Klinisk genetik – Richard Rosenquist Brandells forskargrupp

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Publikationer

Alla gruppmedlemmars publikationer

• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2026;194(2):R17-R36

  International guideline on genetic testing of children with short stature.

  Dauber A; Jorge AAL; Nilsson O; Dekkers OM; Argente J; Netchine I; Backeljauw P; Baron J; Bertola DR; Clayton P; Davies JH; Edouard T; Eggermann T; Gevers EF; Grigelioniene G; Heath KE; Jee YH; Lapunzina P; Mortier GR; Pruhova S; Storr HL; Wakeling E; Ferreira CR; Hasegawa T; Hokken-Koelega ACS; Linglart A; Luo X; Wang X; Hwa V; Gregory LC; Buonocore F; Dattani MT; Cianfarani S; Wit JM
• Article: BMJ PAEDIATRICS OPEN. 2026;10(1):e004087

  Bone structure and body composition in adolescents with cow's milk allergy in infancy: a clinical cohort study.

  Piippo S; Varimo T; Hauta-Alus H; Viljanen M; Savilahti E; Mäkitie O; Kuitunen M
• Letter: LEUKEMIA. 2026;40(2):454-458

  Molecular and functional characterization of the B-cell receptor in chronic lymphocytic leukemia-like monoclonal B-cell lymphocytosis

  Agathangelidis A; Iatrou A; Pechlivanis N; Karakatsoulis G; Zaragoza-Infante L; Galigalidou C; Maity PC; Ranghetti P; Almeida J; Fuentes-Herrero B; Navarro A; Alcoceba M; Rabbani L; Thorvaldsdottir B; Scarfo L; Orfao A; Psomopoulos F; Jumaa H; Rosenquist R; Chatzidimitriou A; Ghia P; Stamatopoulos K
• Article: JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY. 2026

  Vitamin D supplementation in the first 2 years and autism spectrum traits at 6-8 years - a randomized clinical trial

  Sandboge S; Seppala V; Lintula S; Holmlund-Suila E; Hauta-alus H; Kajantie E; Makitie O; Andersson S; Raikkonen K; Heinonen K
• Editorial: NATURE BIOTECHNOLOGY. 2026;44(1):21-25

  Moving beyond monogenic disorders in clinical healthcare

  Kampe A; Picard OB; Eisfeldt J; Lindstrand A
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2026;99(1):49-56

  Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity

  Loid P; Vuorela N; Aaltonen K; Kuittinen J; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2025;41(1):85-90

  Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge

  Ryhanen EM; Makitie RE; Pekkarinen T; Kroger H; Tong X; Kerttula L; Makitie O; Schalin-Jantti C
• Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2025

  T-cell immunomodulation occurs with different time kinetics during acalabrutinib and zanubrutinib therapy in chronic lymphocytic leukaemia

  Andersson ML; Lind O; Heimersson K; Berglof A; del Peso Santos T; Pena-Perez L; Wang Q; Mulder TA; Zain R; Mansson R; Rosenquist R; Smith CIE; Osterborg A; Palma M
• Article: SCIENTIFIC REPORTS. 2025;15(1):44236

  Circulating cell free HPVDNA in HPV positive head and neck cancer reveals fast responders and early peakers during treatment

  Zupancic M; Birgersson M; Kostopoulou ON; Marklund L; Bark R; Friesland S; Jylha C; Tham E; Nasman A; Sivars L; Dalianis T
• Article: JOURNAL OF THE ENDOCRINE SOCIETY. 2025;10(1):bvaf187

  Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study

  Sandini E; Laakso S; Tuomaala A-K; Makitie O; Paldanius PM
• Article: JOURNAL OF CLINICAL INVESTIGATION. 2025;135(22):e182100

  PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

  Masson A; Paccaud J; Orefice M; Colin E; Makitie O; Cormier-Daire V; Relator R; Ghosh S; Strub J-M; Schaeffer-Reiss C; Marcelis C; Koolen DA; Pfundt R; de Boer E; Vissers LELM; Gardeitchik T; Aarts LAM; Rinne T; Terhal PA; Verbeek NE; Zuurbier LC; Plomp AS; Wessels MW; de Man SA; Bouman A; Bird LM; Saadeh-Haddad R; Sacoto MJG; Person R; Gooch C; Hurst ACE; Thompson ML; Hiatt SM; Littlejohn RO; Roeder ER; Mori M; Hickey SE; Hunter JM; Lee K; Osman K; Halloun R; Bachmann-Gagescu R; Rauch A; Wieczorek D; Platzer K; Luppe J; Duplomb-Jego L; El It F; Duffourd Y; Mau-Them FT; Huber C; Gordon CT; Taylan F; Makitie RE; Costantini A; Valta H; Robertson S; Poke G; Francoise M; Ciolfi A; Tartaglia M; Ekhilevitch N; Zaid R; Levy MA; Kerkhof J; McConkey H; Delanne J; Chevarin M; Vautrot V; Bourgeois V; Nguyen S; Marle N; Callier P; Safraou H; Morgan A; Amor DJ; Hildebrand MS; Coman D; Mucca MA; Thevenon J; Laffargue F; Bilan F; Pebrel-Richard C; Yoon G; Axford MM; Perez-Jurado LA; Sevilla-Porras M; Black DL; Philippe C; Sadikovic B; Thauvin-Robinet C; Olivier-Faivre L; Ori M; Thomas Q; Vitobello A
• Study protocol: BMJ OPEN. 2025;15(11):e100082

  Mesalamine for Colorectal Cancer Prevention Programme in Lynch syndrome (MesaCAPP): a multicentre, multinational, randomised, two-arm, double-blind, phase II clinical study with mesalamine or placebo in carriers with Lynch syndrome - a study protocol

  Backman A-S; Frank A; Lindberg LJ; Ljungman D; Silander G; Gustafsson RJ; Bozso T; Schmidt PT; Ingre M; Mittlbock M; Lowbeer C; Marsal J; Lindblom A; Tham E; Therkildsen C; Gasche C
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33(11):1474-1483

  Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

  Lindelof H; Hammarsjo A; Voss U; Piticchio SG; Conner P; Papadogiannakis N; Batkovskyte D; Orellana L; Kvarnung M; Malmgren H; Robinson KL; Nordgren A; Lindstrand A; Nishimura G; Grigelioniene G
• Article: MOLECULAR DIAGNOSIS & THERAPY. 2025;29(6):827-838

  Human Papillomavirus Type and Viral Load in Relation to Circulating Cell-Free Tumour HPV DNA Level and Survival in Cervical Cancer

  Hellman K; Zupancic M; Jylha C; Tham E; Sivars L
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2025;193(Supplement_2):ii23-ii34

  EndoCompass project: research roadmap for calcium and bone endocrinology

  Jahn-Rickert K; Zibar Tomsic K; Anastasilakis AD; Bertocchio J-P; Brandi ML; Fassnacht M; Cheung MS-M; Gevers E; Gittoes N; Makitie O; Martos-Moreno GA; Milovanovic P; Raimann A; Tencerova M; Tsourdi E; Vlug AG; Hogler W; Kamenicky P
• Article: JBMR PLUS. 2025;9(11):ziaf153

  Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome

  Maatta K; Chen Y-C; Pihlstrom S; Makitie RE; Dambroise E; Legeai-Mallet L; Panula P; Makitie O; Pekkinen M
• Article: EUROPEAN CHILD & ADOLESCENT PSYCHIATRY. 2025;:1-11

  Early life vitamin D and neurocognitive abilities at age 6-8 years: a randomized clinical trial and observational analysis

  Seppala V; Sandboge S; Holmlund-Suila E; Hauta-alus H; Lintula S; Kajantie E; Makitie O; Andersson S; Raikkonen K; Heinonen K
• Article: SCIENTIFIC REPORTS. 2025;15(1):35033

  TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype

  Zhang AS; Omran M; Arthur C; Malmgren H; Barbosa-Matos R; Seixas S; Oliveira C; Tham E; Bajalica-Lagercrantz S
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2025;99:64-65

  23. RARE CODING VARIANTS IN SCHIZOPHRENIA HAVE ADDITIVE EFFECTS ON POLYGENIC RISK AND ASSOCIATE WITH COGNITIVE ABILITIES IN INDIVIDUALS WITH PSYCHOTIC DISORDERS

  Kämpe A; Sealock J; Liao C; Giangrande EJ; Trontti K; Urpa L; Lähteenvuo M; Suvisaari J; Daly M; Neale B; Palotie A; Pietiläinen O
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2025;99:90

  TRAJECTORY-BASED STRATIFICATION OF PSY-CHOTIC DISORDERS REVEALS GENOMIC AND FUNCTIONAL DIFFERENCES ACROSS SEVERITY SUBTYPES

  Giangrande E; Kampe A; Sealock J; Liao C; Suvisaari J; Lahteenvuo M; Vartiainen E; Salo K; Pietilainen O; Palotie A; Neale B; Smoller J
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2025;99:38-39

  LEVERAGING REAL-WORLD DATA FROM HEALTH REG-ISTRIES TO MEASURE ANTIDEPRESSANT TREATMENT OUTCOMES FOR LARGE-SCALE GENOME-WIDE ASSOCIATION ANALYSES

  Koch E; Shadrin A; O'Connell KS; Sonajalg H; Alver M; Einarsson G; Lo CWH; Kampe A; Mitchell B; Buil A; Stefansson K; Lu Y; Milani L; Lewis C; Andreassen O
• Article: GENETICS IN MEDICINE. 2025;27(10):101467

  The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

  Hendricks LAJ; Verbeek KCJ; Schuurs-Hoeijmakers JHM; de Jong MM; Links TP; Brems H; Aerden M; Brunet J; Lleuger-Pujol R; Hüneburg R; Aretz S; Colas C; Villy M-C; Woodward ER; Evans DG; Bosch DGM; Donze SH; Foretová L; Blatnik A; Leter EM; Tischkowitz M; Jahn A; de Putter R; Dupont J; Briskemyr S; Steinke-Lange V; Baldassarri M; Anastasiadou VC; Irmejs A; Oliveira C; van der Post RS; Mensenkamp AR; Tesi B; Mu N; Benusiglio PR; Gerasimenko A; Innella G; Turchetti D; Houdayer C; Branchaud M; Høberg-Vetti H; Haavind MT; Balmaña J; Torres M; Genuardi M; Panfili A; Jørgensen K; Mæhle L; Hoogerbrugge N; Vos JR
• Article: JOURNAL OF LEUKOCYTE BIOLOGY. 2025;117(10):qiaf131

  Transcriptome-wide Mendelian randomization exploring dynamic CD4+T cell gene expression in colorectal cancer development

  Deslandes B; Wu X; Lee MA; Goudswaard LJ; Jones GW; Gsur A; Lindblom A; Ogino S; Vymetalkova V; Wolk A; Wu AH; Huyghe JR; Peters U; Phipps AI; Thomas CE; Pai RK; Grant RC; Buchanan DD; Yarmolinsky J; Gunter MJ; Zheng J; Hazelwood E; Vincent EE
• Corrigendum: NATURE COMMUNICATIONS. 2025;16(1):8237

  Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus (vol 7, 12675, 2016)

  Lawrenson K; Kar S; McCue K; Kuchenbaeker K; Michailidou K; Tyrer J; Beesley J; Ramus SJ; Li Q; Delgado MK; Lee JM; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Arun BK; Arver B; Bandera EV; Barile M; Barkardottir RB; Barrowdale D; Beckmann MW; Benitez J; Berchuck A; Bisogna M; Bjorge L; Blomqvist C; Blot W; Bogdanova N; Bojesen A; Bojesen SE; Bolla MK; Bonanni B; Borresen-Dale A-L; Brauch H; Brennan P; Brenner H; Bruinsma F; Brunet J; Buhari SA; Burwinkel B; Butzow R; Buys SS; Cai Q; Caldes T; Campbell I; Cannioto R; Chang-Claude J; Chiquette J; Choi J-Y; Claes KBM; Collonge-Rame M-A; Damette A; Barouk-Simonet E; Bonnet F; Bubien V; Sevenet N; Longy M; Vaur D; Berthet P; Castera L; Ferrer SF; Bignon Y-J; Uhrhammer N; Coron F; Faivre L; Baurand A; Jacquot C; Bertolone G; Lizard S; Leroux D; Dreyfus H; Rebischung C; Peysselon M; Peyrat J-P; Fournier J; Revillion F; Adenis C; Venat-Bouvet L; Leone M; Boutry-Kryza N; Calender A; Giraud S; Verny-Pierre C; Lasset C; Bonadona V; Barjhoux L; Sobol H; Bourdon V; Noguchi T; Remenieras A; Coupier I; Pujol P; Sokolowska J; Bronner M; Delnatte C; Bezieau S; Mari V; Gauthier-Villars M; Buecher B; Rouleau E; Golmard L; Moncoutier V; Belotti M; de Pauw A; Elan C; Fourme E; Birot A-M; Saule C; Laurent M; Houdayer C; Lesueur F; Mebirouk N; Coulet F; Colas C; Soubrier F; Warcoin M; Prieur F; Lebrun M; Kientz C; Muller D; Fricker J-P; Toulas C; Guimbaud R; Gladieff L; Feillel V; Mortemousque I; Bressac-de-Paillerets B; Caron O; Guillaud-Bataille M; Cook LS; Cox A; Cramer DW; Cross SS; Cybulski C; Czene K; Daly MB; Damiola F; Dansonka-Mieszkowska A; Darabi H; Dennis J; Devilee P; Diez O; Doherty JA; Domchek SM; Dorfling CM; Dork T; Dumont M; Ehrencrona H; Ejlertsen B; Ellis S; Gregory H; Miedzybrodzka Z; Morrison PJ; Donaldson A; Rogers MT; Kennedy MJ; Porteous ME; Brady A; Barwell J; Foo C; Lalloo F; Side LE; Eason J; Henderson A; Walker L; Cook J; Snape K; Murray A; Mccann E; Engel C; Lee E; Evans DG; Fasching PA; Feliubadalo L; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Foretova L; Fostira F; Foulkes WD; Fridley BL; Friedman E; Frost D; Gambino G; Ganz PA; Garber J; Garcia-Closas M; Gentry-Maharaj A; Ghoussaini M; Giles GG; Glasspool R; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Goode EL; Goodman MT; Greene MH; Gronwald J; Guenel P; Haiman CA; Hall P; Hallberg E; Hamann U; Hansen TVO; Harrington PA; Hartman M; Hassan N; Healey S; Rookus MA; van Leeuwen FE; van der Kolk LE; Schmidt MK; Russell NS; de Lange JL; Wijnands R; Collee JM; Hooning MJ; Seynaeve C; van Deurzen CHM; Obdeijn IM; van Asperen CJ; Tollenaar RAEM; van Cronenburg TCTEF; Kets CM; Ausems MGEM; van der Pol CC; van Os TAM; Waisfisz Q; Meijers-Heijboer HEJ; Gomez-Garcia EB; Oosterwijk JC; Mourits MJ; de Bock GH; Vasen HF; Siesling S; Verloop J; Overbeek LIH; Heitz F; Herzog J; Hogdall E; Hogdall CK; Hogervorst FBL; Hollestelle A; Hopper JL; Hulick PJ; Huzarski T; Imyanitov EN; Fox S; Kirk J; Lindeman G; Price M; Bowtell D; Defazio A; Webb P; Isaacs C; Ito H; Jakubowska A; Janavicius R; Jensen A; John EM; Johnson N; Kabisch M; Kang D; Kapuscinski M; Karlan BY; Khan S; Kiemeney LA; Kjaer SK; Knight JA; Konstantopoulou I; Kosma V-M; Kristensen V; Kupryjanczyk J; Kwong A; de la Hoya M; Laitman Y; Lambrechts D; Le N; De Leeneer K; Lester J; Levine DA; Li J; Lindblom A; Long J; Lophatananon A; Loud JT; Lu K; Lubinski J; Mannermaa A; Manoukian S; Le Marchand L; Margolin S; Marme F; Massuger LFAG; Matsuo K; Mazoyer S; Mcguffog L; McLean C; McNeish I; Meindl A; Menon U; Mensenkamp AR; Milne RL; Montagna M; Moysich KB; Muir K; Mulligan AM; Nathanson KL; Ness RB; Neuhausen SL; Nevanlinna H; Nord S; Nussbaum RL; Odunsi K; Offit K; Olah E; Olopade OI; Olson JE; Olswold C; O'Malley D; Orlow I; Orr N; Osorio A; Park SK; Pearce CL; Pejovic T; Peterlongo P; Pfeiler G; Phelan CM; Poole EM; Pylkas K; Radice P; Rantala J; Rashid MU; Rennert G; Rhenius V; Rhiem K; Risch HA; Rodriguez G; Rossing MA; Rudolph A; Salvesen HB; Sangrajrang S; Sawyer EJ; Schildkraut JM; Schmidt MK; Schmutzler RK; Sellers TA; Seynaeve C; Shah M; Shen C-Y; Shu X-O; Sieh W; Singer CF; Sinilnikova OM; Slager S; Song H; Soucy P; Southey MC; Stenmark-Askmalm M; Stoppa-Lyonnet D; Sutter C; Swerdlow A; Tchatchou S; Teixeira MR; Teo SH; Terry KL; Terry MB; Thomassen M; Tibiletti MG; Tihomirova L; Tognazzo S; Toland AE; Tomlinson I; Torres D; Truong T; Tseng C-C; Tung N; Tworoger SS; Vachon C; van den Ouweland AMW; van Doorn HC; van Rensburg EJ; Van't Veer LJ; Vanderstichele A; Vergote I; Vijai J; Wang Q; Wang-Gohrke S; Weitzel JN; Wentzensen N; Whittemore AS; Wildiers H; Winqvist R; Wu AH; Yannoukakos D; Yoon S-Y; Yu J-C; Zheng W; Zheng Y; Khanna KK; Simard J; Monteiro AN; French JD; Couch FJ; Freedman ML; Easton DF; Dunning AM; Pharoah PD; Edwards SL; Chenevix-Trench G; Antoniou AC; Gayther SA
• Article: BREAST CANCER RESEARCH. 2025;27(1):160

  Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer

  Kvist A; Kampe A; Torngren T; Tesi B; Baliakas P; Borg A; Eriksson D
• Article: JBMR PLUS. 2025;9(10):ziaf128

  Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis

  Pihlstrom S; Oghabian A; Maatta K; Legebeke J; Makitie RE; Campeau PM; Terhal PA; Botto LD; Olkkonen VM; Makitie O; Pekkinen M
• Journal article: PRESSE MEDICALE. 2025;54(3):104293

  Lymphatic malformations revisited: Genetics, clinics and future directions

  Fransen J; Frisk S; Ghaffarpour N
• Review: LEUKEMIA. 2025;39(9):2049-2060

  Resistance to targeted therapies in chronic lymphocytic leukemia: Current status and perspectives for clinical and diagnostic practice

  Blombery P; Chatzikonstantinou T; Gerousi M; Rosenquist R; Gaidano G; Pospisilova S; Roberts AW; Birkinshaw RW; Rossi D; Scarfo L; Seymour JF; Stilgenbauer S; Wiestner A; Woyach JA; Brown JR; Ghia P; Stamatopoulos K
• Article: LEUKEMIA. 2025;39(9):2076-2086

  Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms

  Nadeu F; Shuai S; Clot G; Hilton LK; Diaz-Navarro A; Martin S; Royo R; Baumann T; Kulis M; Lopez-Oreja I; Cossio M; Lu J; Ljungstroem V; Young E; Plevova K; Knisbacher BA; Lin Z; Hahn CK; Bousquets P; Alcoceba M; Gonzalez M; Colado E; Payer AR; Aymerich M; Terol MJ; Rivas-Delgado A; Enjuanes A; Ruiz-Gaspa S; Chatzikonstantinou T; Haegerstrand D; Jylhae C; Skaftason A; Mansouri L; Stranska K; Doubek M; van Gastel-Mol EJ; Davis Z; Walewska R; Scarfo L; Trentin L; Visentin A; Parikh SA; Rabe KG; Moia R; Armand M; Rossi D; Davi F; Gaidano G; Kay NE; Shanafelt TD; Ghia P; Oscier D; Langerak AW; Bea S; Lopez-Guillermo A; Neuberg D; Wu CJ; Getz G; Pospisilova S; Stamatopoulos K; Rosenquist R; Huber W; Zenz T; Colomer D; Martin-Subero JI; Delgado J; Morin RD; Stein LD; Puente XS; Campo E
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2025;45(9):1636-1647

  Tricuspid Aortic Valve Regurgitation Associates With Ascending Aortic Aneurysm Through Endothelial Activation and Lipoprotein Infiltration

  Freiholtz D; Reyes-Goya C; Lang K; Bergman O; Olsson C; Granbom Koski M; Dismorr M; Osterholm C; Caidahl K; Franco-Cereceda A; Eriksson P; Gistera A; Bjorck HM
• Article: NATURE AGING. 2025;5(9):1739-1749

  Induced somatic mutation accumulation during skeletal muscle regeneration reduces muscle strength

  Vrtacnik P; Merino LG; Subhash S; Helgadottir HT; Bardin M; Stefani F; Wang D; Chen P; Franco I; Revechon G; Eriksson M
• Article: JCO ONCOLOGY PRACTICE. 2025;:OP2500087

  Assessing an eHealth Intervention on Quality of Life in Patients With Chronic Lymphocytic Leukemia and Myelodysplastic Syndromes: The MyPal Randomized Controlled Trial.

  Chatzikonstantinou T; Vasilopoulou M; Kyrou D; Karakatsoulis G; Argyropaidas P; Besikli-Dimou S; Bonotis P; Chatzimina M; Didi J; Dimosthenous C; Garani-Papadatos T; Hoffman S; Kakalou C; Kazantzaki E; Kiefer S; Koumakis L; Ling J; Maramis C; Meyerheim M; Payne C; Papangelou C; Payne S; Pontikoglou C; Reston R; Ryblom H; Sander A; Schera F; Smedby KE; Zacharioudakis G; Chatzidimitriou A; Doubek M; Stavroyianni N; Ghia P; Papadaki HA; Rosenquist R; Graf N; Natsiavas P; Stamatopoulos K; Karamanidou C; Scarfò L
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2025;:1-7

  Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder

  Loid P; Narhi A; Hussain S; Muurinen M; Makitie O
• Article: EBIOMEDICINE. 2025;118:105830

  GWAS meta-analysis identifies five susceptibility loci for endometrial cancer

  Ramachandran D; Wang X; Laisk T; Zheng Y; Ingold N; Canson DM; Kho PF; Naumann BJ; Chapman CJ; Bousset K; Krause AV; Schurmann P; Wieland B; Hanel P; Hulse F; Hafner N; Runnebaum I; Dubrowinskaja N; Turmanov N; Yugay T; Yessimsiitova ZB; Amant F; Annibali D; Beckmann MW; Bodelon C; Buchanan DD; Chen C; Clarke MA; Cook LS; De Vivo I; De Wispelaere W; Du M; Easton DF; Emons J; Fasching PA; Friedenreich CM; Gallagher G; Giles GG; Goode EL; Harris HR; Hunter DJ; Kolin DL; Kraft P; Lacey JV; Lambrechts D; Lu L; Mutter GL; Naduparambil J; O'Connell K; Patel AV; Pharoah PDP; Rebbeck TR; Ricceri F; Risch HA; Ruebner M; Sacerdote C; Scott RJ; Setiawan VW; Shu X-O; Southey MC; Tham E; Tomlinson I; Turman C; Wentzensen N; Xu W; Yu H; Zheng W; Spurdle AB; Yarden Y; Team EBR; Magi R; Hillemanns P; Glubb DM; Doerk T; O'Mara TA
• Article: CLINICAL GENETICS. 2025;108(2):199-205

  Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency

  Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
• Article: BMC CANCER. 2025;25(1):1222

  Stage at diagnosis and tumor characteristics among young women and men with breast cancer, in Ethiopia and Sweden, a descriptive cross-sectional study

  Hjelm TE; Gebremariam TY; Weldearegay MF; Sori M; Bauer M; Getachew BA; Assefa M; Anberber E; Mohammed HY; Kantelhardt EJ; Margolin S; Lindblom A; Ashenafi S; Lofgren J
• Article: LEUKEMIA. 2025;39(7):1650-1660

  ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker

  Thorvaldsdottir B; Mansouri L; Sutton L-A; Nadeu F; Meggendorfer M; Parker H; Brieghel C; Laidou S; Moia R; Rossi D; Kotaskova J; Delgado J; Rodriguez-Vicente AE; Benito R; Rigolin GM; Bonfiglio S; Scarfo L; Mattsson M; Davis Z; Baliakas P; Rapado I; Miras F; Martinez-Lopez J; de la Serna J; Hernandez Rivas JM; Larrayoz MJ; Calasanz MJ; Smedby KE; Espinet B; Puiggros A; Bullinger L; Bosch F; Tazon-Vega B; Baran-Marszak F; Oscier D; Nguyen-Khac F; Zenz T; Terol MJ; Cuneo A; Hernandez-Sanchez M; Pospisilova S; Gaidano G; Niemann CU; Campo E; Strefford JC; Ghia P; Stamatopoulos K; Rosenquist R
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2025;40(7):860-867

  Increased risk of vertebral fractures and reduced risk of femur fractures in patients with chronic hypoparathyroidism: a nationwide cohort study in Sweden

  Bjornsdottir S; Kamal W; Mannstadt M; Makitie O; Spelman T; Kampe O; Langdahl BL
• Article: JOURNAL OF MEDICAL GENETICS. 2025;62(7):436-440

  Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

  Loid P; Wang F; Lennartsson O; Muurinen M; Costantini A; Vats S; Lodefalk M; Nilsson O; Makitie O
• Article: FRONTIERS IN GENETICS. 2025;16:1580879

  Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

  Malmgren H; Kvarnung M; Gustafsson P; Anderlid B-M; Arthur C; Carlsten J; De Geer K; Ehn E; Grigelioniene G; Hammarsjo A; Helgadottir HT; Hellstrom-Pigg M; Iwarsson E; Kuchinskaya E; Lindelof H; Mannila M; Nilsson D; Pettersson M; Rudd E; Sahlin E; Tesi B; Tham E; Thonberg H; Westenius E; Winberg J; Winerdal M; Nordenskjold M; Johansson-Soller M; Wirta V; Nordgren A; Lindstrand A; Lagerstedt-Robinson K
• Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2025;26(12):5461

  Novel Shared Heritable Candidate Risk Loci of Breast and Endometrial Cancer-A Swedish Haplotype Genome-Wide Association Study

  Barnekow E; Liu W; Franko MA; von Wachenfeldt A; Wendt C; Tham E; Mints M; O'Mara TA; Hall P; Margolin S; Lindblom A
• Article: BJC REPORTS. 2025;3(1):42

  Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

  Hendricks LAJ; Verbeek KCJ; Schuurs-Hoeijmakers JHM; de Putter R; Brems H; Van Daele SH; Anastasiadou VC; Foretova L; Benusiglio PR; Gerasimenko A; Colas C; Villy M-C; Houdayer C; Branchaud M; Huneburg R; Aretz S; Jahn A; Steinke-Lange V; Innella G; Turchetti D; Barili V; Genuardi M; Panfili A; Baldassarri M; Irmejs A; de Jong MM; Links TP; Leter EM; Bosch DGM; Donze SH; van der Post RS; Mensenkamp AR; Westdorp H; Hoberg-Vetti H; Tveit Haavind M; Jorgensen K; Maehle L; Briskemyr S; Garcia JD; Blatnik A; Balmana J; Torres M; Brunet J; Lleuger-Pujol R; Tham E; Tischkowitz M; Evans DG; Hyder Z; Hoogerbrugge N; Vos JR
• Letter: NATURE MEDICINE. 2025;31(6):1730-1732

  Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare

  Kampe A; Gudmundsson S; Walsh CP; Lindblad-Toh K; Johansson A; Clareborn A; Ameur A; Edsjo A; Fioretos T; Ehrencrona H; Eriksson D; Fall T; Franks PW; Gyllensten U; Haag M; Hagwall A; Johansson Soller M; Lehtio J; Lu Y; Magnusson PKE; Melen E; Melin B; Michaelsson K; Nordgren A; Nordlund J; Saal LH; Schwenk JM; Sikora P; Sundstrom J; Taylan F; Van Guelpen B; Wadelius M; Wedell A; Wirta V; Ostling P; Jacobsson B; Sjoblom T; Persson B; Rosenquist R; Lindstrand A; Lappalainen T
• Article: NATURE AGING. 2025;5(6):1046-1062

  Recurrent somatic mutation and progerin expression in early vascular aging of chronic kidney disease

  Revechon G; Witasp A; Viceconte N; Helgadottir HT; Machtel P; Stefani F; Whisenant D; Sola-Carvajal A; McGuinness D; Abutaleb NO; Artiach G; Arzt EW; Soveri I; Babler A; Ziegler S; Kramann R; Back M; Thorell A; Truskey GA; Wennberg L; Shiels PG; Wernerson A; Stenvinkel P; Eriksson M
• Article: SURGERY FOR OBESITY AND RELATED DISEASES. 2025;21(6):628-636

  Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass-a randomized clinical trial

  Loid P; Gronroos S; Hurme S; Salminen P; Makitie O
• Article: BONE. 2025;195:117469

  Dental and craniofacial manifestations in sponastrime dysplasia- An observational study

  Arponen H; Valta H; Makitie O
• Review: LANCET PSYCHIATRY. 2025;12(6):457-468

  Recommendations for defining treatment outcomes in major psychiatric disorders using real-world data

  Koch E; Smart S; Einarsson G; Kampe A; Jonsson L; Alver M; Iveson M; Goteson A; Pardinas AF; Sonderby IE; O'Connell KS; Li Q; Lu Y; Stefansson H; Stefansson K; Whalley H; Landen M; O'Donovan MC; Smerud K; Dawson GR; Werge T; Buil A; Reif A; Milani L; Molden E; Fabbri C; Serretti A; Walters J; Lewis CM; Andreassen O
• Editorial: BLOOD. 2025;145(21):2403-2405

  Chromatin dynamics in CLL: a matter of balance.

  Rosenquist R
• Preprint: MEDRXIV. 2025;MEDRXIV

  Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia.

  Giangrande EJ; Kämpe A; Suvisaari J; Lähteenvuo M; Vartiainen E; Salo K; Pietiläinen O; Palotie A; Smoller JW; Neale BM
• Article: BJU INTERNATIONAL. 2025;135(5):792-801

  Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples

  Axelsson TA; Syden F; Eisfeldt J; Eriksson Y; Lundberg GG; Jaremko G; Gyllensten OC; Tham E; Brehmer M
• Preprint: MEDRXIV. 2025;MEDRXIV

  Transcriptome-wide Mendelian randomisation exploring dynamic CD4+ T cell gene expression in colorectal cancer development.

  Deslandes B; Wu X; Lee MA; Goudswaard LJ; Jones GW; Gsur A; Lindblom A; Ogino S; Vymetalkova V; Wolk A; Wu AH; Huyghe JR; Peters U; Phipps AI; Thomas CE; Pai RK; Grant RC; Buchanan DD; Yarmolinsky J; Gunter MJ; Zheng J; Hazelwood E; Vincent EE
• Article: PSYCHOLOGICAL MEDICINE. 2025;55:e117

  Sleep and schizophrenia polygenic scores in non-affective and affective psychotic disorders

  Cederlof E; Holm M; Kampe A; Ahola-Olli A; Kantojarvi K; Lahteenvuo M; Ahti J; Hietala J; Hakkinen K; Isometsa E; Tuulio-Henriksson A; Kampman O; Lahdensuo K; Lonnqvist J; Tiihonen J; Turunen H; Wegelius A; Veijola J; Kieseppa T; Palotie A; Paunio T
• Doctoral thesis: 2025

  Whole genome sequencing in pediatric ALL - a tool for understanding chromosomal aberrations and improving diagnostic procedures

  Rezayee F
• Preprint: PSYARXIV. 2025

  Recommendations for defining treatment outcomes in major psychiatric disorders leveraging real-world data

  Koch E; Smart SE; Einarsson G; Kämpe A; Jonsson L; Alver M; Iveson MH; Göteson A; Pardiñas AF; Sønderby IE; O’Connell K; Li Q; Yi L; Stefansson H; Stefánsson K; Whalley HC; Landén M; O’Donovan MC; Smerud KT; Dawson GR; Werge T; Buil A; Reif A; Milani L; Molden E; Fabbri C; Serretti A; Walters J; Lewis C; Andreassen OA
• Article: CLINICAL GENETICS. 2025;107(4):463-468

  Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families

  Khan IU; Abdullah H; Khan H; Ali A; Sani A; Khan FU; Ullah MT; Ahmed S; Liaqat R; Haider A; Ullah K; Ullah N; Khan MS; Hussain S; Ullah I; Ullah A; Anees M; Makitie O; Ahmad W
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33(4):513-522

  Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families

  Omran M; Liu Y; Sun Zhang A; Poluha A; Stenmark-Askmalm M; Persson F; Hallbeck A-L; Rosen A; Helgadottir HT; Tham E; Bajalica-Lagercrantz S
• Article: PSYCHIATRIC GENETICS. 2025;35(2):26-36

  Unresolved ethical issues of genetic counseling and testing in clinical psychiatry

  Perry J; Bunnik E; Rietschel M; Bentzen HB; Ingvoldstad Malmgren C; Pawlak J; Chaumette B; Tammimies K; Bialy F; Bizzarri V; Borg I; Coviello D; Crepaz-Keay D; Ivanova E; Mcquillin A; Mezinska S; Johansson Soller M; Suvisaari J; Watson M; Wirgenes K; Wynn SL; Degenhardt F; Schicktanz S
• Article: BJS-BRITISH JOURNAL OF SURGERY. 2025;112(4):znaf061

  Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6 Lynch syndrome: multicentre study from the Prospective Lynch Syndrome Database

  Zalevskaja K; Ojala K; Petrov A; Haupt S; Sunde L; Bernstein I; Jenkins MA; Aretz S; Nielsen M; Capella G; Balaguer F; Evans DG; Burn J; Holinski-Feder E; Bertario L; Bonanni B; Lindblom A; Levi Z; Macrae F; Winship I; Plazzer J-P; Sijmons R; Laghi L; Della Valle A; Heinimann K; Debniak T; Fruscio R; Lopez-Koestner F; Alvarez-Valenzuela K; Katz LH; Laish I; Vainer E; Vaccaro C; Carraro DM; Monahan K; Half E; Stakelum A; Winter D; Kennelly R; Gluck N; Sheth H; Abu-Freha N; Greenblatt M; Rossi BM; Bohorquez M; Cavestro GM; Lino-Silva LS; Horisberger K; Tibiletti MG; do Nascimento I; Thomas H; Rossi NT; da Silva LA; Zarand A; Ruiz-Banobre J; Heuveline V; Lindberg LJ; Gogenur I; Hopper JL; Win AK; Haile RW; Lindor N; Gallinger S; Le Marchand L; Newcomb PA; Figueiredo J; Buchanan DD; Thibodeau SN; Knebel DMV; Loeffler M; Rahner N; Schroeck E; Steinke-Lange V; Schmiegel W; Vangala D; Perne C; Hueneburg R; Redler S; Buettner R; Weitz J; Pineda M; Duenas N; Brunet Vidal J; Moreira L; Sanchez A; Castillo-Iturra J; Hovig E; Green K; Lalloo F; Hill J; Crosbie E; Mints M; Goldberg Y; Tjandra D; ten Broeke SW; Kariv R; Rosner G; Jain A; Shah P; Shah M; Neffa F; Esperon P; Pavicic W; Torrezan GT; Bassaneze T; Martin CA; Pylvanainen K; Moeslein G; Lepistoe A; Mecklin J-P; Renkonen-Sinisalo L; Sampson JR; Dominguez Valentin M; Moller P; Seppala TT
• Article: NATURE COMMUNICATIONS. 2025;16(1):2694

  Missense variants in FRS3 affect body mass index in populations of diverse ancestries.

  Jonsdottir AB; Sveinbjornsson G; Thorolfsdottir RB; Tamlander M; Tragante V; Olafsdottir T; Rognvaldsson S; Sigurdsson A; Eggertsson HP; Aegisdottir HM; Arnar DO; Banasik K; Beyter D; Bjarnason RG; Bjornsdottir G; Brunak S; Topholm Bruun M; Dowsett J; Einarsson E; Einarsson G; Erikstrup C; Fridriksdottir R; Ghouse J; Gretarsdottir S; Halldorsson GH; Hansen T; Helgadottir A; Holm PC; Ivarsdottir EV; Iversen KK; Jensen BA; Jonsdottir I; Knight S; Knowlton KU; Kristmundsdottir S; Larusdottir AE; Magnusson OT; Masson G; Melsted P; Mikkelsen C; Moore KHS; Oddsson A; Olason PI; Palsson F; Pedersen OB; Schwinn M; Sigurdsson EL; Skaftason A; Stefansdottir L; Stefansson H; Steingrimsdottir T; Sturluson A; Styrkarsdottir U; Sørensen E; Teitsdottir UD; Thorgeirsson TE; Thorisson GA; Thorsteinsdottir U; Ulfarsson MO; Ullum H; Vikingsson A; Walters GB; DBDS Genomic Consortium; Nadauld LD; Bundgaard H; Ostrowski SR; Helgason A; Halldorsson BV; Norddahl GL; Ripatti S; Gudbjartsson DF; Thorleifsson G; Steinthorsdottir V; Holm H; Sulem P; Stefansson K
• Article: HUMAN MOLECULAR GENETICS. 2025;34(7):617-625

  Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer

  Prizment A; Standafer A; Qu C; Beutel KM; Wang S; Huang W-Y; Lindblom A; Pearlman R; Van Guelpen B; Wolk A; Buchanan DD; Grant RC; Schmit SL; Platz EA; Joshu CE; Couper DJ; Peters U; Starr TK; Scott P; Pankratz N
• Article: PLOS ONE. 2025;20(3):e0316086

  A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk

  Barnekow E; Liu W; Andersson E; Wang X; Helgadottir HT; Thutkawkorapin J; Barilla S; Vermani L; Mints M; Tham E; Fasching PA; Lambrechts D; Amant F; Spurdle AB; Hall P; O'Mara TA; Margolin S; Lindblom A
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2025;40(3):382-395

  Preterm birth and risk of bone fractures during childhood and early adulthood

  Alenius S; Miettinen ME; Nurhonen M; Salmi S; Nasanen-Gilmore P; Haaramo P; Tikanmaki M; Vaarasmaki M; Gissler M; Makitie O; Hovi P; Kajantie E
• Preprint: MEDRXIV. 2025;MEDRXIV

  Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

  Ho PJ; Loo CKY; Goh MH; Abubakar M; Ahearn TU; Andrulis IL; Antonenkova NN; Aronson KJ; Augustinsson A; Behrens S; Bodelon C; Bogdanova NV; Bolla MK; Brantley K; Brenner H; Byers H; Camp NJ; Castelao JE; Cessna MH; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Choi J-Y; Colonna SV; Czene K; Daly MB; Derouane F; Dörk T; Eliassen AH; Engel C; Eriksson M; Evans DG; Fletcher O; Fritschi L; Gago-Dominguez M; Genkinger JM; Geurts-Giele WRR; Glendon G; Hall P; Hamann U; Ho CYS; Ho W-K; Hooning MJ; Hoppe R; Howell A; Humphreys K; ABCTB Investigators; kConFab Investigators; SGBCC Investigators; MyBrCa Investigators; Ito H; Iwasaki M; Jakubowska A; Jernström H; John EM; Johnson N; Kang D; Kim S-W; Kitahara CM; Ko Y-D; Kraft P; Kwong A; Lambrechts D; Larsson S; Li S; Lindblom A; Linet M; Lissowska J; Lophatananon A; MacInnis RJ; Mannermaa A; Manoukian S; Margolin S; Matsuo K; Michailidou K; Milne RL; Taib NAM; Muir K; Murphy RA; Newman WG; O'Brien KM; Obi N; Olopade OI; Panayiotidis MI; Park SK; Park-Simon T-W; Patel AV; Peterlongo P; Plaseska-Karanfilska D; Pylkäs K; Rashid MU; Rennert G; Rodriguez J; Saloustros E; Sandler DP; Sawyer EJ; Scott CG; Shahi S; Shu X-O; Shulman K; Simard J; Southey MC; Stone J; Taylor JA; Teo S-H; Teras LR; Terry MB; Torres D; Vachon CM; Van Houdt M; Verhoeven J; Weinberg CR; Wolk A; Yamaji T; Yip CH; Zheng W; Hartman M; Li J
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935

  Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

  Batkovskyte D; Swolin-Eide D; Hammarsjo A; Saether KB; Thunstrom S; Lundin J; Eisfeldt J; Lindstrand A; Nordgren A; Astrom E; Grigelioniene G
• Article: CLINICAL GENETICS. 2025;107(3):271-277

  Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia

  Karlberg S; Toiviainen-Salo S; Lipsanen-Nyman M; Makitie O
• Journal article: JOURNAL OF VASCULAR ANOMALIES. 2025;6(1):e102

  The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Capillary Malformations

  Baselga E; Andersen R; Barea M; Bejarano Serrano M; Berger S; Bisdorff-Bresson A; Boccara O; Bom-Sucesso M; Boon LM; Borgards P; Diociaiuti A; Dompmartin A; Dvorakova V; El Hachem M; Frisk S; Gasparella P; Ghaffarpour N; Haxhija E; Hjuler T; Holm A; Kaltoft M; Kapp FG; Kyrklund K; Irvine AD; Madureira M; Palionis D; Rößler J; Salminen P; Tolonen J; Vaisnyte B; Van Den Bosch C; van der Vleuten C; Schultze Kool L; Vikkula M
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2025;110(3):693-705

  BRAF-induced EHF Expression Affects TERT in Aggressive Papillary Thyroid Cancer

  Xu Y; Gao J; Wang N; Zedenius J; Nilsson I-L; Lui W-O; Xu D; Juhlin CC; Larsson C; Mu N
• Article: PAEDIATRIC AND PERINATAL EPIDEMIOLOGY. 2025;39(2):177-183

  Body Composition in Adults Born at Very Low Birthweight-A Sibling Study

  Sandboge S; Kuula J; Hauta-alus H; Kaseva N; Jussinniemi L; Bjorkqvist J; Hovi P; Eriksson JG; Makitie O; Pietilainen KH; Kajantie E
• Article: JBMR PLUS. 2025;9(2):ziae169

  A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

  Koponen L; Pekkinen M; Legebeke J; Muurinen M; Rusanen S; Hussain S; Wang F; Nevalainen PI; Makitie O
• Review: HEREDITARY CANCER IN CLINICAL PRACTICE. 2025;23(1):3

  Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences

  Moller P; Ahadova A; Kloor M; Seppala TT; Burn J; Haupt S; Macrae F; Dominguez-Valentin M; Moslein G; Lindblom A; Sunde L; Winship I; Capella G; Monahan K; Buchanan DD; Evans DG; Hovig E; Sampson JR
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2025;110(2):e257-e265

  Progressive Impairment of Prepubertal Growth in Children With APECED

  Saari V; Alanko V; Holopainen E; Makitie O; Laakso S
• Article: CARDIO-ONCOLOGY. 2025;11(1):5

  Cardiovascular health in breast cancer patients: insight on BRCA1/2 mutations impact

  Mallios P; Manshadi MD; Hubbert L; Aydin T; Maes C; Rantala J; Liljegren A; Kiani NA; Hedayati E
• Article: HEMASPHERE. 2025;9(1):e70065

  Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL

  Pavlova S; Malcikova J; Radova L; Bonfiglio S; Cowland JB; Brieghel C; Andersen MK; Karypidou M; Biderman B; Doubek M; Lazarian G; Rapado I; Vynck M; Porret NA; Andres M; Rosenberg D; Sahar D; Martinez-Laperche C; Buno I; Hindley A; Donaldson D; Sanchez JB; Garcia-Marco JA; Serrano-Alcala A; Ferrer-Lores B; Fernandez-Rodriguez C; Bellosillo B; Stilgenbauer S; Tausch E; Nikdin H; Quinn F; Atkinson E; van de Corput L; Yildiz C; Bilbao-Sieyro C; Florido Y; Thiede C; Schuster C; Stoj A; Czekalska S; Chatzidimitriou A; Laidou S; Bidet A; Dussiau C; Nollet F; Piras G; Monne M; Smirnova S; Nikitin E; Sloma I; Claudel A; Largeaud L; Ysebaert L; Valk PJM; Christian A; Walewska R; Oscier D; Sebastiao M; da Silva MG; Galieni P; Angelini M; Rossi D; Spina V; Matos S; Martins V; Stoklosa T; Pepek M; Baliakas P; Andreu R; Luna I; Kahre T; Murumets U; Pikousova T; Kurucova T; Laird S; Ward D; Alcoceba M; Balanzategui A; Scarfo L; Gandini F; Zapparoli E; Blanco A; Abrisqueta P; Rodriguez-Vicente AE; Benito R; Bravetti C; Davi F; Gameiro P; Martinez-Lopez J; Tazon-Vega B; Baran-Marszak F; Davis Z; Catherwood M; Sudarikov A; Rosenquist R; Niemann CU; Stamatopoulos K; Ghia P; Pospisilova S
• Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2025;26(2):817

  A Haplotype GWAS in Syndromic Familial Colorectal Cancer

  Vermani L; Samola Winnberg J; Liu W; Soller V; Sjodin T; Lindblad M; Lindblom A
• Article: SCIENTIFIC REPORTS. 2025;15(1):1014

  Spatial transcriptomics unveils estrogen-modulated immune responses and structural alterations in the ectocervical mucosa of depot medroxyprogesterone acetate users

  Kaldhusdal V; Boger MF; Tjernlund A; Burgener AD; Bradley F; Lajoie J; Omollo K; Kimani J; Fowke K; Czarnewski P; Broliden K
• Article: ENDOCRINE CONNECTIONS. 2025;14(1):e240482

  Bone turnover markers, and growth and bone parameters in infants participating in a vitamin D intervention study

  Persia S; Holmlund-Suila E; Valkama S; Enlund-Cerullo M; Rosendahl J; Andersson S; Makitie O; Hauta-alus H
• Review: HORMONE RESEARCH IN PAEDIATRICS. 2025;98(SUPPL 2):29-43

  EndoCompass Project: Research Roadmap for Calcium and Bone Endocrinology

  Jahn-Rickert K; Tomsic KZ; Anastasilakis AD; Bertocchio J-P; Brandi ML; Fassnacht M; Cheung MS-M; Gevers E; Gittoes N; Makitie O; Martos-Moreno GA; Milovanovic P; Raimann A; Tencerova M; Tsourdi E; Vlug AG; Hogler W; Kamenicky P
• Article: METHODS IN MOLECULAR BIOLOGY. 2025;2865:125-143

  Stereotyped B-Cell Receptor Immunoglobulins in B-Cell Lymphomas.

  Agathangelidis A; Roussos A; Kardamiliotis K; Psomopoulos F; Stamatopoulos K
• Article: CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY. 2025;16(1):e00790

  Candidate Genetic Loci Modifying the Colorectal Cancer Risk Caused by Lifestyle Risk Factors

  Barot S; Vermani L; Blom J; Larsson S; Liljegren A; Lindblom A
• Article: PRENATAL DIAGNOSIS. 2025;45(1):77-88

  The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia

  Rajala K; Toiviainen-Salo S; Makitie O; Stefanovic V; Tanner L
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2025;98(6):677-687

  A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure

  Koljonen L; Salonen P; Rusanen S; Mayranpaa MK; Pekkinen M; Makitie O
• Article: CLINICAL GENETICS. 2025;107(1):78-82

  Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

  Gregersen PA; Hammarsjo A; Graversen L; Brix N; Lindelof H; Jensen UB; Farholt S; Rubak S; Bjerre J; Piticchio SG; Terkelsen T; Nishimura G; Hellfritzsch MB; Grigelioniene G
• Article: JOURNAL OF MEDICAL ECONOMICS. 2024;27(1):1053-1060

  Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing

  Thangavelu T; Wirta V; Orsmark-Pietras C; Cavelier L; Fioretos T; Barbany G; Olsson-Arvidsson L; Pandzic T; Staffas A; Rosenquist R; Levin L-A
• Article: BREAST CANCER RESEARCH. 2024;26(1):189

  Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction

  Yiangou K; Mavaddat N; Dennis J; Zanti M; Wang Q; Bolla MK; Abubakar M; Ahearn TU; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Aronson KJ; Augustinsson A; Baten A; Behrens S; Bermisheva M; de Gonzalez AB; Bialkowska K; Boddicker N; Bodelon C; Bogdanova NV; Bojesen SE; Brantley KD; Brauch H; Brenner H; Camp NJ; Canzian F; Castelao JE; Cessna MH; Chang-Claude J; Chenevix-Trench G; Chung WK; Colonna SV; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Doerk T; Dunning AM; Eccles DM; Eliassen AH; Engel C; Eriksson M; Evans DG; Fasching PA; Fletcher O; Flyger H; Fritschi L; Gago-Dominguez M; Gentry-Maharaj A; Gonzalez-Neira A; Guenel P; Hahnen E; Haiman CA; Hamann U; Hartikainen JM; Ho V; Hodge J; Hollestelle A; Honisch E; Hooning MJ; Hoppe R; Hopper JL; Howell S; Howell A; Jakovchevska S; Jakubowska A; Jernstroem H; Johnson N; Kaaks R; Khusnutdinova EK; Kitahara CM; Koutros S; Kristensen VN; Lacey JV; Lambrechts D; Lejbkowicz F; Lindblom A; Lush M; Mannermaa A; Mavroudis D; Menon U; Murphy RA; Nevanlinna H; Obi N; Offit K; Park-Simon T-W; Patel AV; Peng C; Peterlongo P; Pita G; Plaseska-Karanfilska D; Pylkaes K; Radice P; Rashid MU; Rennert G; Roberts E; Rodriguez J; Romero A; Rosenberg EH; Saloustros E; Sandler DP; Sawyer EJ; Schmutzler RK; Scott CG; Shu X-O; Southey MC; Stone J; Taylor JA; Teras LR; van de Beek I; Willett W; Winqvist R; Zheng W; Vachon CM; Schmidt MK; Hall P; MacInnis RJ; Milne RL; Pharoah PDP; Simard J; Antoniou AC; Easton DF; Michailidou K
• Article: CANCERS. 2024;17(1):12

  A GWAS Suggesting Genetic Modifiers to Increase the Risk of Colorectal Cancer from Antibiotic Use

  Vermani L; Wolk A; Lindblom A; Swedish LRCCSG
• Article: GENES. 2024;15(12):1616

  Swedish Genome-Wide Haplotype Association Analysis Suggests Breast Cancer Loci with Varying Risk-Modifying Effects

  Vermani L; Barnekow E; Liu W; Wendt C; Hall P; Margolin S; Lindblom A
• Article: SCIENTIFIC REPORTS. 2024;14(1):30343

  Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

  Ek M; Kvarnung M; Pettersson M; Soller MJ; Anderlid B-M; Thonberg H; Eisfeldt J; Lindstrand A
• Article: HUMAN GENOME VARIATION. 2024;11(1):44

  Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing

  Nakajima E; Yokohama Y; Sugiyama S; Taketazu M; Mitsube K; Yamada T; Hammarsjoe A; Grigelioniene G; Nishimura G; Makita Y
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128

  Somatic overgrowth and vascular malformations - high-depth massive parallel sequencing and ddPCR in a Swedish cohort of 100 individuals

  Hammarsjo A; Sollander K; Frisk S
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128

  Somatic overgrowth and vascular malformations high-depth massive parallel sequencing and ddPCR in a Swedish cohort of 100 individuals

  Hammarsjo A; Sollander K; Frisk S
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:915

  Whole exome sequencing in a family with familial colorectal cancer

  Helgadottir HT; Lundin P; Lindblom A
• Article: EUROPEAN JOURNAL OF IMMUNOLOGY. 2024;54(12):e2451189

  Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration

  Hetemaki I; Sarkkinen J; Wong HH; Heikkila N; Laakso S; Miettinen S; Mayranpaa MI; Makitie O; Arstila TP; Kekalainen E
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2024;:1-11

  Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and WNT1 Osteoporosis

  Doulgeraki A; Wang F; Skouma A; Petropoulou E; Tournis S; Costantini A; Makitie O
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2024;22(1):25

  A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives

  Winnberg JS; Vermani L; Liu W; Soller V; Thutkawkorapin J; Lindblad M; Lindblom A
• Article: CANCERS. 2024;16(22):3816

  Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors

  Ofverholm I; Lin Y; Mondini J; Hardingz J; Braenstroem R; Tsagkozis P; Wirta V; Gellerbring A; Lindberg J; Chellappa V; Mayrhofer M; Haglund C; Haglund de Flon F; Wallander K
• Article: MOLECULAR PHARMACEUTICS. 2024;21(11):5353-5372

  PBBM Considerations for Base Models, Model Validation, and Application Steps: Workshop Summary Report

  Heimbach T; Tshinanu FM; Raines K; Borges L; Kijima S; Malamatari M; Moody R; Veerasingham S; Seo P; Turner D; Fang L; Stillhart C; Bransford P; Ren X; Patel N; Sperry D; Chen H; Rostami-Hodjegan A; Lukacova V; Sun D; Nguefack J-F; Carducci T; Grimstein M; Pepin X; Jamei M; Stamatopoulos K; Li M; Sanghavi M; Tannergren C; Mandula H; Zhao Z; Ju TR; Wagner C; Arora S; Wang M; Rullo G; Mitra A; Kollipara S; Chirumamilla SK; Polli JE; Mackie C
• Article: HUMAN GENETICS. 2024;143(12):1481-1498

  Germline copy number variants and endometrial cancer risk

  Stylianou CE; Wiggins GAR; Lau VL; Dennis J; Shelling AN; Wilson M; Sykes P; Amant F; Annibali D; De Wispelaere W; Easton DF; Fasching PA; Glubb DM; Goode EL; Lambrechts D; Pharoah PDP; Scott RJ; Tham E; Tomlinson I; Bolla MK; Couch FJ; Czene K; Doerk T; Dunning AM; Fletcher O; Garcia-Closas M; Hoppe R; Jernstrom H; Kaaks R; Michailidou K; Obi N; Southey MC; Stone J; Wang Q; Spurdle AB; O'Mara TA; Pearson J; Walker LC
• Article: NEURO-OPHTHALMOLOGY. 2024;48(6):407-416

  A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene

  Hammar B; Paulsson S; Helgadottir HT; Albinsson J; Naumovska M; Sheikh R; Kvarnung M
• Conference publication: BEHAVIOR GENETICS. 2024;54(6):585-586

  Stratifying Psychotic Disorder Severity and Genetic Risk Using Longitudinal Inpatient Hospitalization Data

  Giangrande EJ; Kampe A; Suvisaari J; Lahteenvuo M; Vartiainen E; Pietilainen O; Palotie A; Smoller JW; Neale BM
• Editorial: NATURE GENETICS. 2024;56(11):2287-2294

  Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

  Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Saether KB; Hoijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjo A; Hammond CK; Ng OH; Hesketh S; Hettiarachchi D; Soller MJ; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Wiklander ML; Makay P; Maiga AB; Maya-Gonzalez C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjo S; Ottosson J; Ozbek U; Ozdemir O; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; de la Paz MP; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tumer Z; van Zelst-Stams WAG; Verloes A; Vasterviga E; Wang S; Yang R; Yamamoto S; Yepez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
• Article: PLOS PATHOGENS. 2024;20(11):e1012709

  Sustained immune activation and impaired epithelial barrier integrity in the ectocervix of women with chronic HIV infection

  Boger MF; Hasselrot T; Kaldhusdal V; Miranda GHB; Czarnewski P; Edfeldt G; Bradley F; Rexaj G; Lajoie J; Omollo K; Kimani J; Fowke KR; Broliden K; Tjernlund A
• Article: LEUKEMIA. 2024;38(11):2429-2442

  The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia

  Hagerstrand D; Oder B; Cortese D; Qu Y; Binzer-Panchal A; Osterholm C; Santos TDP; Rabbani L; Asl HF; Skaftason A; Ljungstrom V; Lundholm A; Koutroumani M; Haider Z; Jylha C; Mollstedt J; Mansouri L; Plevova K; Agathangelidis A; Scarfo L; Armand M; Muggen AF; Kay NE; Shanafelt T; Rossi D; Orre LM; Pospisilova S; Barylyuk K; Davi F; Vesterlund M; Langerak AW; Lehtio J; Ghia P; Stamatopoulos K; Sutton L-A; Rosenquist R
• Article: FRONTIERS IN ENDOCRINOLOGY. 2024;15:1454006

  Estradiol-mediated enhancement of the human ectocervical epithelial barrier correlates with desmoglein-1 expression in the follicular menstrual phase

  Bradley F; Stern A; Boger MF; Mousavian Z; Dethlefsen O; Kaldhusdal V; Lajoie J; Omollo K; Bergstrom S; Manberg A; Nilsson P; Kimani J; Burgener AD; Tjernlund A; Sundling C; Fowke KR; Broliden K
• Corrigendum: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):369

  Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA (vol 19, 213, 2024)

  Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2024;87:49-50

  POLYGENIC RISK PREDICTS GLOBAL FUNCTIONING ACROSS INPATIENT PSYCHIATRIC HOSPITALIZATION AMONG PEOPLE WITH SCHIZOPHRENIA

  Giangrande E; Kampe A; Suvisaari J; Lahteenvuo M; Pietilainen O; Palotie A; Smoller J; Neale B
• Article: EJHAEM. 2024;5(5):998-1004

  Medical history and lifestyle factors have limited impact on time-to-first-treatment in patients with chronic lymphocytic leukemia

  Glimelius I; Kleinstern G; Robinson DP; Mansouri L; Rostgaard K; Hjalgrim H; Niemann CU; Mattsson M; Rabe KG; Hampel PJ; Parikh SA; Rosenquist R; Cerhan JR; Slager SL; Smedby KE
• Article: HEALTH INFORMATICS JOURNAL. 2024;30(4):14604582241290725

  Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis

  Brahimllari O; Eloranta S; Georgii-Hemming P; Haider Z; Koch S; Krstic A; Skarp FP; Rosenquist R; Smedby KE; Taylan F; Thorvaldsdottir B; Wirta V; Wasterlid T; Boman M
• Article: AMERICAN JOURNAL OF PSYCHIATRY. 2024;181(10):879-892

  High Burden of Ileus and Pneumonia in Clozapine-Treated Individuals With Schizophrenia: A Finnish 25-Year Follow-Up Register Study

  Partanen JJ; Happola P; Kampe A; Ahola-Olli A; Hellsten A; Rask SM; Haaki W; Hietala J; Kampman O; Tiihonen J; Tanskanen AJ; Daly MJ; Ripatti S; Palotie A; Taipale H; Lahteenvuo M; Koskela JT
• Article: SCIENCE. 2024;385(6715):eadd8947

  Germline mutations in a G protein identify signaling cross-talk in T cells

  Ham H; Jing H; Lamborn IT; Kober MM; Koval A; Berchiche YA; Anderson DE; Druey KM; Mandl JN; Isidor B; Ferreira CR; Freeman AF; Ganesan S; Karsak M; Mustillo PJ; Teo J; Zolkipli-Cunningham Z; Chatron N; Lecoquierre F; Oler AJ; Schmid JP; Kuhns DB; Xu X; Hauck F; Al-Herz W; Wagner M; Terhal PA; Muurinen M; Barlogis V; Cruz P; Danielson J; Stewart H; Loid P; Rading S; Keren B; Pfundt R; Zarember KA; Vill K; Potocki L; Olivier KN; Lesca G; Faivre L; Wong M; Puel A; Chou J; Tusseau M; Moutsopoulos NM; Matthews HF; Simons C; Taft RJ; Soldatos A; Masle-Farquhar E; Pittaluga S; Brink R; Fink DL; Kong HH; Kabat J; Kim WS; Bierhals T; Meguro K; Hsu AP; Gu J; Stoddard J; Banos-Pinero B; Slack M; Trivellin G; Mazel B; Soomann M; Li S; Watts VJ; Stratakis CA; Rodriguez-Quevedo MF; Bruel A-L; Lipsanen-Nyman M; Saultier P; Jain R; Lehalle D; Torres D; Sullivan KE; Barbarot S; Neu A; Duffourd Y; Similuk M; McWalter K; Blanc P; Bezieau S; Jin T; Geha RS; Casanova J-L; Makitie OM; Kubisch C; Edery P; Christodoulou J; Germain RN; Goodnow CC; Sakmar TP; Billadeau DD; Kury S; Katanaev VL; Zhang Y; Lenardo MJ; Su HC
• Review: GENES. 2024;15(9):1205

  Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges

  Kristoffersson U; Johansson-Soller M
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2024;111(9):2059-2069

  Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

  Davidson AL; Michailidou K; Parsons MT; Fortuno C; Bolla MK; Wang Q; Dennis J; Naven M; Abubakar M; Ahearn TU; Alonso MR; Andrulis IL; Antoniou AC; Auvinen P; Behrens S; Bermisheva MA; Bogdanova NV; Bojesen SE; Bruning T; Byers HJ; Camp NJ; Campbell A; Castelao JE; Cessna MH; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Collee JM; Czene K; Dork T; Eriksson M; Evans DG; Fasching PA; Figueroa JD; Flyger H; Gago-Dominguez M; Garcia-Closas M; Glendon G; Gonzalez-Neira A; Grassmann F; Gronwald J; Guenel P; Hadjisavvas A; Haeberle L; Hall P; Hamann U; Hartman M; Ho PJ; Hooning MJ; Hoppe R; Howell A; Jakubowska A; Khusnutdinova EK; Kristensen VN; Li J; Lim J; Lindblom A; Liu J; Lophatananon A; Mannermaa A; Mavroudis DA; Mensenkamp AR; Milne RL; Muir KR; Newman WG; Obi N; Panayiotidis MI; Park SK; Park-Simon T-W; Peterlongo P; Radice P; Rashid MU; Rhenius V; Saloustros E; Sawyer EJ; Schmidt MK; Seibold P; Shah M; Southey MC; Teo SH; Tomlinson I; Torres D; Truong T; van de Beek I; van der Hout AH; Wendt CC; Dunning AM; Pharoah PDP; Devilee P; Easton DF; James PA; Spurdle AB
• Article: MOLECULAR PSYCHIATRY. 2024;29(9):2733-2741

  Genetic contribution to disease-course severity and progression in the SUPER-Finland study, a cohort of 10,403 individuals with psychotic disorders

  Kampe A; Suvisaari J; Lahteenvuo M; Singh T; Ahola-Olli A; Urpa L; Haaki W; Hietala J; Isometsa E; Jukuri T; Kampman O; Kieseppa T; Lahdensuo K; Lonnqvist J; Mannynsalo T; Paunio T; Niemi-Pynttari J; Suokas K; Tuulio-Henriksson A; Veijola J; Wegelius A; Daly M; Taylor J; Kendler KS; Palotie A; Pietilainen O
• Article: BONE REPORTS. 2024;22:101789

  A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

  Ahmad S; Muurinen M; Loid P; Ali MZ; Muzammal M; Fatima S; Khan J; Khan MA; Makitie O
• Article: ENDOCRINE-RELATED CANCER. 2024;31(9):e230061

  Genetic variants and down-regulation of CACNA1H in pheochromocytoma

  Svahn F; Hose KS; Stenman A; Liu Y; Calissendorff J; Tham E; Vegvari A; Zubarev RA; Wang N; Korah R; Carling T; Zedenius J; Branstrom R; Juhlin CC; Larsson C
• Article: BMC CARDIOVASCULAR DISORDERS. 2024;24(1):452

  Hemoglobin homeostasis in abdominal aortic aneurysm: diagnostic and prognostic potential of hemoglobin/heme and scavenger molecules

  Vats S; Sundquist K; Grundberg A; Sundquist J; Wang X; Zarrouk M; Gottsater A; Memon AA
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2024;22(1):14

  Universal testing in endometrial cancer in Sweden

  Andersson E; Keranen A; Lagerstedt-Robinson K; Ghazi S; Lindblom A; Tham E; Mints M
• Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2024;103(8):1564-1569

  Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

  Wincent J; Helgadottir HT; Sergouniotis F; Mantero AS; Carvalho CMB; Malmgren H; Lindstrand A; Iwarsson E
• Corrigendum: NATURE GENETICS. 2024;56(8):1763-1764

  Understanding the genetic complexity of puberty timing across the allele frequency spectrum (vol 56, pg 1397, 2024)

  Kentistou KA; Kaisinger LR; Stankovic S; Vaudel M; de Oliveira EM; Messina A; Walters RG; Liu X; Busch AS; Helgason H; Thompson DJ; Santoni F; Petricek KM; Zouaghi Y; Huang-Doran I; Gudbjartsson DF; Bratland E; Lin K; Gardner EJ; Zhao Y; Jia RY; Terao C; Riggan MJ; Bolla MK; Yazdanpanah M; Yazdanpanah N; Bradfield JP; Broer L; Campbell A; Chasman DI; Cousminer DL; Franceschini N; Franke LH; Girotto G; He C; Jarvelin M-R; Joshi PK; Kamatani Y; Karlsson R; Luan J; Lunetta KL; Maegi R; Mangino M; Medland SE; Meisinger C; Noordam R; Nutile T; Concas MP; Polasek O; Porcu E; Ring SM; Sala C; Smith AV; Tanaka T; van der Most PJ; Vitart V; Wang CA; Willemsen G; Zygmunt M; Ahearn TU; Andrulis IL; Anton-Culver H; Antoniou AC; Auer PL; Barnes CLK; Beckmann MW; de Gonzalez AB; Bogdanova NV; Bojesen SE; Brenner H; Buring JE; Canzian F; Chang-Claude J; Couch FJ; Cox A; Crisponi L; Czene K; Daly MB; Demerath EW; Dennis J; Devilee P; De Vivo I; Dork T; Dunning AM; Dwek M; Eriksson JG; Fasching PA; Fernandez-Rhodes L; Ferreli L; Fletcher O; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Gonzalez-Neira A; Grallert H; Guenel P; Haiman CA; Hall P; Hamann U; Hakonarson H; Hart RJ; Hickey M; Hooning MJ; Hoppe R; Hopper JL; Hottenga J-J; Hu FB; Huebner H; Hunter DJ; Jernstrom H; John EM; Karasik D; Khusnutdinova EK; Kristensen VN; Lacey JV; Lambrechts D; Launer LJ; Lind PA; Lindblom A; Magnusson PKE; Mannermaa A; McCarthy MI; Meitinger T; Menni C; Michailidou K; Millwood IY; Milne RL; Montgomery GW; Nevanlinna H; Nolte IM; Nyholt DR; Obi N; O'Brien KM; Offit K; Oldehinkel AJ; Ostrowski SR; Palotie A; Pedersen OB; Peters A; Pianigiani G; Plaseska-Karanfilska D; Pouta A; Pozarickij A; Radice P; Rennert G; Rosendaal FR; Ruggiero D; Saloustros E; Sandler DP; Schipf S; Schmidt CO; Schmidt MK; Small K; Spedicati B; Stampfer M; Stone J; Tamimi RM; Teras LR; Tikkanen E; Turman C; Vachon CM; Wang Q; Winqvist R; Wolk A; Zemel BS; Zheng W; van Dijk KW; Alizadeh BZ; Bandinelli S; Boerwinkle E; Boomsma DI; Ciullo M; Chenevix-Trench G; Cucca F; Esko T; Gieger C; Grant SFA; Gudnason V; Hayward C; Kolcic I; Kraft P; Lawlor DA; Martin NG; Nohr EA; Pedersen NL; Pennell CE; Ridker PM; Robino A; Snieder H; Sovio U; Spector TD; Stockl D; Sudlow C; Timpson NJ; Toniolo D; Uitterlinden A; Ulivi S; Volzke H; Wareham NJ; Widen E; Wilson JF; Pharoah PDP; Li L; Easton DF; Njolstad PR; Sulem P; Murabito JM; Murray A; Manousaki D; Juul A; Erikstrup C; Stefansson K; Horikoshi M; Chen Z; Farooqi IS; Pitteloud N; Johansson S; Day FR; Perry JRB; Ong KK
• Article: EUROPEAN JOURNAL OF PUBLIC HEALTH. 2024;34(4):666-675

  Genetic counselling legislation and practice in cancer in EU Member States

  McCrary JM; Van Valckenborgh E; Poirel HA; de Putter R; van Rooij J; Horgan D; Dierks M-L; Antonova O; Brunet J; Chirita-Emandi A; Colas C; Dalmas M; Ehrencrona H; Grima C; Janavicius R; Klink B; Koczok K; Krajc M; Lace B; Leitsalu L; Mistrik M; Paneque M; Primorac D; Roetzer KM; Ronez J; Slamova L; Spanou E; Stamatopoulos K; Stoklosa T; Strang-Karlsson S; Szakszon K; Szczaluba K; Turner J; van Dooren MF; van Zelst-Stams WAG; Vassallo L-M; Wadt KAW; Zigman T; Ripperger T; Genuardi M; Van den Bulcke M; Bergmann AK
• Review: HEMASPHERE. 2024;8(7):e113

  Realizing precision medicine in chronic lymphocytic leukemia: Remaining challenges and potential opportunities

  Stamatopoulos K; Pavlova S; Al-Sawaf O; Chatzikonstantinou T; Karamanidou C; Gaidano G; Cymbalista F; Kater AP; Rawstron A; Scarfo L; Ghia P; Rosenquist R
• Article: GENES CHROMOSOMES & CANCER. 2024;63(7):e23257

  Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel

  Orsmark-Pietras C; Lyander A; Ladenvall C; Hallstrom B; Staffas A; Awier H; Krstic A; Baliakas P; Barbany G; Hakansson CB; Gellerbring A; Hagstrom A; Hellstrom-Lindberg E; Juliusson G; Lazarevic V; Munters A; Pandzic T; Wadelius M; As J; Fogelstrand L; Wirta V; Rosenquist R; Cavelier L; Fioretos T
• Article: NATURE. 2024;631(8019):134-141

  Genetic drivers and cellular selection of female mosaic X chromosome loss

  Liu A; Genovese G; Zhao Y; Pirinen M; Zekavat SM; Kentistou KA; Yang Z; Yu K; Vlasschaert C; Liu X; Brown DW; Hudjashov G; Gorman BR; Dennis J; Zhou W; Momozawa Y; Pyarajan S; Tuzov V; Pajuste F-D; Aavikko M; Sipila TP; Ghazal A; Huang W-Y; Freedman ND; Song L; Gardner EJ; Sankaran VG; Palotie A; Ollila HM; Tukiainen T; Chanock SJ; Magi R; Natarajan P; Daly MJ; Bick A; McCarroll SA; Terao C; Loh P-R; Ganna A; Perry JRB; Machiela MJ; Metspalu A; Esko T; Nelis M; Milani L; Ahearn TU; Andrulis IL; Anton-Culver H; Antoniou AC; de Gonzalez AB; Bogdanova NV; Bojesen SE; Bolla MK; Brenner H; Chang-Claude J; Chenevix-Trench G; Colonna SV; Couch FJ; Cox A; Czene K; Daly MB; Devilee P; Doerk T; Dunning AM; Dwek M; Easton DF; Eccles DM; Fasching PA; Fletcher O; Gago-Dominguez M; Garcia-Closas M; Goldberg MS; Gonzalez-Neira A; Guenel P; Haiman CA; Hall P; Hamann U; Hollestelle A; Hoppe R; Hopper JL; Jakubowska A; Jernstrom H; John EM; Kaaks R; Khusnutdinova EK; Kitahara CM; Kraft P; Kristensen VN; Lambrechts D; Lindblom A; Mannermaa A; Menon U; Michailidou K; Murphy RA; Nevanlinna H; Obi N; Offit K; Peterlongo P; Pharoah PDP; Plaseska-Karanfilska D; Rennert G; Romero A; Saloustros E; Schmidt MK; Schmutzler RK; Stone J; Tamimi RM; Teras LR; Terry MB; Troester MA; Vachon CM; Wang Q; Weinberg CR; Winqvist R; Wolk A
• Review: LEUKEMIA. 2024;38(7):1474-1476

  Immunogenetics in hematopathology and hematology: why a common language is important

  Stamatopoulos K; Bruford E; Campo E; Lefranc M-P
• Article: ACTA ANAESTHESIOLOGICA SCANDINAVICA. 2024;68(6):788-793

  Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare

  Hellblom A; Miller WP; Soller M; Samuelsson C
• Article: CLINICAL CANCER RESEARCH. 2024;30(13):2764-2771

  Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylha C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjold M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S4 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Results and Discussion S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S6 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S4 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S2 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S7 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S7 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Methods S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S8 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S9 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S3 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S4 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S2 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S9 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S8 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Results and Discussion S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Data from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S3 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S6 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S3 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S2 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S3 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Data from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S5 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S2 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Figure S5 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Table S4 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2024

  Supplementary Methods S1 from Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer

  Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
• Review: LEUKEMIA. 2024;38(7):1455-1468

  ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update

  Malcikova J; Pavlova S; Baliakas P; Chatzikonstantinou T; Tausch E; Catherwood M; Rossi D; Soussi T; Tichy B; Kater AP; Niemann CU; Davi F; Gaidano G; Stilgenbauer S; Rosenquist R; Stamatopoulos K; Ghia P; Pospisilova S
• Article: NATURE GENETICS. 2024;56(7):1397-1411

  Understanding the genetic complexity of puberty timing across the allele frequency spectrum

  Kentistou KA; Kaisinger LR; Stankovic S; Vaudel M; de Oliveira EM; Messina A; Walters RG; Liu X; Busch AS; Helgason H; Thompson DJ; Santoni F; Petricek KM; Zouaghi Y; Huang-Doran I; Gudbjartsson DF; Bratland E; Lin K; Gardner EJ; Zhao Y; Jia RY; Terao C; Riggan MJ; Bolla MK; Yazdanpanah M; Yazdanpanah N; Bradfield JP; Broer L; Campbell A; Chasman DI; Cousminer DL; Franceschini N; Franke LH; Girotto G; He C; Jarvelin M-R; Joshi PK; Kamatani Y; Karlsson R; Luan J; Lunetta KL; Magi R; Mangino M; Medland SE; Meisinger C; Noordam R; Nutile T; Concas MP; Polasek O; Porcu E; Ring SM; Sala C; Smith AV; Tanaka T; Van der Most PJ; Vitart V; Wang CA; Willemsen G; Zygmunt M; Ahearn TU; Andrulis IL; Anton-Culver H; Antoniou AC; Auer PL; Barnes CLK; Beckmann MW; de Gonzalez AB; Bogdanova NV; Bojesen SE; Brenner H; Buring JE; Canzian F; Chang-Claude J; Couch FJ; Cox A; Crisponi L; Czene K; Daly MB; Demerath EW; Dennis J; Devilee P; De Vivo I; Doerk T; Dunning AM; Dwek M; Eriksson JG; Fasching PA; Fernandez-Rhodes L; Ferreli L; Fletcher O; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Gonzalez-Neira A; Grallert H; Guenel P; Haiman CA; Hall P; Hamann U; Hakonarson H; Hart RJ; Hickey M; Hooning MJ; Hoppe R; Hopper JL; Hottenga J-J; Hu FB; Huebner H; Hunter DJ; Jernstrom H; John EM; Karasik D; Khusnutdinova EK; Kristensen VN; Lacey JV; Lambrechts D; Launer LJ; Lind PA; Lindblom A; Magnusson PKE; Mannermaa A; McCarthy MI; Meitinger T; Menni C; Michailidou K; Millwood IY; Milne RL; Montgomery GW; Nevanlinna H; Nolte IM; Nyholt DR; Obi N; O'Brien KM; Offit K; Oldehinkel AJ; Ostrowski SR; Palotie A; Pedersen OB; Peters A; Pianigiani G; Plaseska-Karanfilska D; Pouta A; Pozarickij A; Radice P; Rennert G; Rosendaal FR; Ruggiero D; Saloustros E; Sandler DP; Schipf S; Schmidt CO; Schmidt MK; Small K; Spedicati B; Stampfer M; Stone J; Tamimi RM; Teras LR; Tikkanen E; Turman C; Vachon CM; Wang Q; Winqvist R; Wolk A; Zemel BS; Zheng W; van Dijk KW; Alizadeh BZ; Bandinelli S; Boerwinkle E; Boomsma DI; Ciullo M; Chenevix-Trench G; Cucca F; Esko T; Gieger C; Grant SFA; Gudnason V; Hayward C; Kolcic I; Kraft P; Lawlor DA; Martin NG; Nohr EA; Pedersen NL; Pennell CE; Ridker PM; Robino A; Snieder H; Sovio U; Spector TD; Stockl D; Sudlow C; Timpson NJ; Toniolo D; Uitterlinden A; Ulivi S; Volzke H; Wareham NJ; Widen E; Wilson JF; Pharoah PDP; Li L; Easton DF; Njolstad PR; Sulem P; Murabito JM; Murray A; Manousaki D; Juul A; Erikstrup C; Stefansson K; Horikoshi M; Chen Z; Farooqi IS; Pitteloud N; Johansson S; Day FR; Perry JRB; Ong KK
• Article: JOURNAL OF CLINICAL INVESTIGATION. 2024;134(15):e170369

  The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERIC/SOX9-dependent osteoprogenitor differentiation defect

  Marom R; Song I-W; Busse EC; Washington ME; Berrier AS; Rossi VC; Ortinau L; Jeong Y; Jiang M-M; Dawson BC; Adeyeye M; Leynes C; Lietman CD; Stroup BM; Batkovskyte D; Jain M; Chen Y; Cela R; Castellon A; Tran AA; Lorenzo I; Meyers DN; Huang S; Turner A; Shenava V; Wallace M; Orwoll E; Park D; Ambrose CG; Nagamani SCS; Heaney JD; Lee BH
• Article: CLINICAL CANCER RESEARCH. 2024;30(12):2647-2658

  Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma

  Ofverholm I; Wallander K; Haglund C; Chellappa V; Wejde J; Gellerbring A; Wirta V; Renevey A; Caceres E; Tsagkozis P; Mayrhofer M; Papakonstantinou A; Linder-Stragliotto C; Branstrom R; Larsson O; Lindberg J; Lin Y; de Flon FH
• Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2024;44(6):140

  Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1-A National Cohort Study

  Laakso SM; Hakkinen A; Makitie O; Laakso S
• Article: NEUROPSYCHOPHARMACOLOGY. 2024;49(7):1113-1119

  Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study

  Koch E; Kampe A; Alver M; Siguroarson S; Einarsson G; Partanen J; Smith RL; Jaholkowski P; Taipale H; Lahteenvuo M; Steen NE; Smeland OB; Djurovic S; Molden E; Sigurdsson E; Stefansson H; Stefansson K; Palotie A; Milani L; O'Connell KS; Andreassen OA
• Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2024;153(6):1736-1742

  Increased type 7 inflammation in gynecologic cervicovaginal samples in patients with APS-7

  Hetemaki I; Saari V; Yohannes DA; Holopainen E; Holster T; Jokiranta S; Mayranpaa MI; Virtanen S; Makitie O; Kekalainen E; Laakso S
• Article: ACTA PAEDIATRICA. 2024;113(6):1446-1452

  Bisphosphonate treatment for skeletal complications in paediatric cancer-Experience from a single tertiary centre

  Utriainen P; Stenberg JEE; Vettenranta KK; Makitie OM
• Article: LEUKEMIA. 2024;38(6):1287-1298

  IκBε deficiency accelerates disease development in chronic lymphocytic leukemia

  Bordini J; Lenzi C; Frenquelli M; Morabito A; Pseftogas A; Belloni D; Mansouri L; Tsiolas G; Perotta E; Ranghetti P; Gandini F; Genova F; Hagerstrand D; Gavriilidis G; Keisaris S; Pechlivanis N; Davi F; Kay NE; Langerak AW; Pospisilova S; Scarfo L; Makris A; Psomopoulos FE; Stamatopoulos K; Rosenquist R; Campanella A; Ghia P
• Article: JOURNAL OF INTERNAL MEDICINE. 2024;295(6):785-803

  High-throughput molecular assays for inclusion in personalised oncology trials - State-of-the-art and beyond

  Edsjo A; Russnes HG; Lehtio J; Tamborero D; Hovig E; Stenzinger A; Rosenquist R
• Journal article: JOURNAL OF CLINICAL ONCOLOGY. 2024;42(16_suppl):e15644

  A GWAS in Swedish colorectal cancer families with gastric and prostate cancer.

  Samola Winnberg J; Vermani L; Liu W; Soller V; Thutkawkorapin J; Lindblad M; Lindblom A
• Conference publication: JOURNAL OF CLINICAL ONCOLOGY. 2024;42(16)

  A GWAS in Swedish colorectal cancer families with gastric and prostate cancer.

  Winnberg JS; Vermani L; Liu W; Soller V; Thutkawkorapin J; Lindblad M; Lindblom A
• Article: TRENDS IN ENDOCRINOLOGY AND METABOLISM. 2024;35(6):478-489

  A perspective on muscle phenotyping in musculoskeletal research

  Foessl I; Ackert-Bicknell CL; Kague E; Laskou F; Jakob F; Karasik D; Obermayer-Pietsch B; Alonso N; Bjornerem A; Brandi ML; Busse B; Calado A; Cebi AH; Christou M; Curran KM; Hald JD; Semeraro MD; Douni E; Duncan EL; Duran I; Formosa MM; Gabet Y; Ghatan S; Gkitakou A; Hassler EM; Hogler W; Heino TJ; Hendrickx G; Khashayar P; Kiel DP; Koromani F; Langdahl B; Lopes P; Makitie O; Maurizi A; Medina-Gomez C; Ntzani E; Ohlsson C; Prijatelj V; Rabionet R; Reppe S; Rivadeneira F; Roshchupkin G; Sharma N; Soe K; Styrkarsdottir U; Szulc P; Teti A; Tobias J; Valjevac A; van de Peppel J; van der Eerden B; van Rietbergen B; Zekic T; Zillikens MC
• Journal article: ACTA ONCOLOGICA. 2024;63:385-391

  PCM4EU and PRIME-ROSE: Collaboration for implementation of precision cancer medicine in Europe.

  Taskén K; Haj Mohammad SF; Fagereng GL; Sørum Falk R; Helland Å; Barjesteh van Waalwijk van Doorn-Khosrovani S; Steen Carlsson K; Ryll B; Jalkanen K; Edsjö A; Russnes HG; Lassen U; Hallersjö Hult E; Lugowska I; Blay J-Y; Verlingue L; Abel E; Lowery MA; Krebs MG; Staal Rohrberg K; Ojamaa K; Oliveira J; Verheul HMW; Voest EE; Gelderblom H; PRIME-ROSE Consortium and the PCM4EU Consortium
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):213

  Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

  Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
• Article: CELL REPORTS MEDICINE. 2024;5(5):101529

  Genetic variants for head size share genes and pathways with cancer

  Knol MJ; Poot RA; Evans TE; Satizabal CL; Mishra A; Sargurupremraj M; van der Auwera S; Duperron M-G; Jian X; Hostettler IC; Van Dam-Nolen DHK; Lamballais S; Pawlak MA; Lewis CE; Carrion-Castillo A; van Erp TGM; Reinbold CS; Shin J; Scholz M; Haberg AK; Kampe A; Li GHY; Avinun R; Atkins JR; Hsu F-C; Amod AR; Lam M; Tsuchida A; Teunissen MWA; Aygun N; Patel Y; Liang D; Beiser AS; Beyer F; Bis JC; Bos D; Bryan RN; Buelow R; Caspers S; Catheline G; Cecil CAM; Dalvie S; Dartigues J-F; DeCarli C; Enlund-Cerullo M; Ford JM; Franke B; Freedman BI; Friedrich N; Green MJ; Haworth S; Helmer C; Hoffmann P; Homuth G; Ikram MK; Jack CRJ; Jahanshad N; Jockwitz C; Kamatani Y; Knodt AR; Li S; Lim K; Longstreth WT; Macciardi F; Makitie O; Mazoyer B; Medland SE; Miyamoto S; Moebus S; Mosley TH; Muetzel R; Muehleisen TW; Nagata M; Nakahara S; Palmer ND; Pausova Z; Preda A; Quide Y; Reay WR; Roshchupkin GV; Schmidt R; Schreiner PJ; Setoh K; Shapland CY; Sidney S; St Pourcain B; Stein JL; Tabara Y; Teumer A; Uhlmann A; van der Lugt A; Vernooij MW; Werring DJ; Windham BG; Witte AV; Wittfeld K; Yang Q; Yoshida K; Brunner HG; Le Grand Q; Sim K; Stein DJ; Bowden DW; Cairns MJ; Hariri AR; Cheung C-L; Andersson S; Villringer A; Paus T; Cichon S; Calhoun VD; Crivello F; Launer LJ; White T; Koudstaal PJ; Houlden H; Fornage M; Matsuda F; Grabe HJ; Ikram MA; Debette S; Thompson PM; Seshadri S; Adams HHH
• Editorial: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020

  Novel findings in a Swedish primary familial brain calcification cohort

  Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2024;22(1):6

  Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes

  Moller P; Haupt S; Ahadova A; Kloor M; Sampson JR; Sunde L; Seppaelae T; Burn J; Bernstein I; Capella G; Evans DG; Lindblom A; Winship I; Macrae F; Katz L; Laish I; Vainer E; Monahan K; Half E; Horisberger K; da Silva LA; Heuveline V; Therkildsen C; Lautrup C; Klarskov LL; Cavestro GM; Moeslein G; Hovig E; Dominguez-Valentin M
• Article: PEDIATRIC RESEARCH. 2024;95(6):1578-1586

  Low-grade inflammation from prenatal period to age 6-8 years in a Vitamin D trial

  Hauta-alus HH; Rosendahl J; Holmlund-Suila EM; Valkama SM; Enlund-Cerullo M; Nurhonen M; Kajantie E; Makitie O; Andersson S
• Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2024;153(5):1445-1455

  Dysregulated germinal center reaction with expanded T follicular helper cells in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy lymph nodes

  Hetemaki I; Sarkkinen J; Heikkila N; Drechsel K; Mayranpaa MI; Farkkila A; Laakso S; Makitie O; Arstila TP; Kekalainen E
• Editorial: NATURE GENETICS. 2024;56(5):733-736

  The 1+Million Genomes Minimal Dataset for Cancer

  Riba M; Sala C; Culhane AC; Flobak A; Patocs A; Boye K; Plevova K; Pospisilova S; Gandolfi G; Morelli MJ; Bucci G; Edsjo A; Lassen U; Al-Shahrour F; Lopez-Bigas N; Hovland R; Cuppen E; Valencia A; Poirel HA; Rosenquist R; Scollen S; Marquez JA; Belien J; De Nicolo A; De Maria R; Torrents D; Tonon G
• Letter: JOURNAL OF CLINICAL IMMUNOLOGY. 2024;44(5):115

  Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia

  Vakkilainen S; Ahonen K; Makitie O
• Article: NATURE COMMUNICATIONS. 2024;15(1):3557

  Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

  Chen Z; Guo X; Tao R; Huyghe JR; Law PJ; Fernandez-Rozadilla C; Ping J; Jia G; Long J; Li C; Shen Q; Xie Y; Timofeeva MN; Thomas M; Schmit SL; Diez-Obrero V; Devall M; Moratalla-Navarro F; Fernandez-Tajes J; Palles C; Sherwood K; Briggs SEW; Svinti V; Donnelly K; Farrington SM; Blackmur J; Vaughan-Shaw PG; Shu X-O; Lu Y; Broderick P; Studd J; Harrison TA; Conti DV; Schumacher FR; Melas M; Rennert G; Obon-Santacana M; Martin-Sanchez V; Oh JH; Kim J; Jee SH; Jung KJ; Kweon S-S; Shin M-H; Shin A; Ahn Y-O; Kim D-H; Oze I; Wen W; Matsuo K; Matsuda K; Tanikawa C; Ren Z; Gao Y-T; Jia W-H; Hopper JL; Jenkins MA; Win AK; Pai RK; Figueiredo JC; Haile RW; Gallinger S; Woods MO; Newcomb PA; Duggan D; Cheadle JP; Kaplan R; Kerr R; Kerr D; Kirac I; Bohm J; Mecklin J-P; Jousilahti P; Knekt P; Aaltonen LA; Rissanen H; Pukkala E; Eriksson JG; Cajuso T; Hanninen U; Kondelin J; Palin K; Tanskanen T; Renkonen-Sinisalo L; Mannisto S; Albanes D; Weinstein SJ; Ruiz-Narvaez E; Palmer JR; Buchanan DD; Platz EA; Visvanathan K; Ulrich CM; Siegel E; Brezina S; Gsur A; Campbell PT; Chang-Claude J; Hoffmeister M; Brenner H; Slattery ML; Potter JD; Tsilidis KK; Schulze MB; Gunter MJ; Murphy N; Castells A; Castellvi-Bel S; Moreira L; Arndt V; Shcherbina A; Bishop DT; Giles GG; Southey MC; Idos GE; McDonnell KJ; Abu-Ful Z; Greenson JK; Shulman K; Lejbkowicz F; Offit K; Su Y-R; Steinfelder R; Keku TO; van Guelpen B; Hudson TJ; Hampel H; Pearlman R; Berndt SI; Hayes RB; Martinez ME; Thomas SS; Pharoah PDP; Larsson SC; Yen Y; Lenz H-J; White E; Li L; Doheny KF; Pugh E; Shelford T; Chan AT; Cruz-Correa M; Lindblom A; Hunter DJ; Joshi AD; Schafmayer C; Scacheri PC; Kundaje A; Schoen RE; Hampe J; Stadler ZK; Vodicka P; Vodickova L; Vymetalkova V; Edlund CK; Gauderman WJ; Shibata D; Toland A; Markowitz S; Kim A; Chanock SJ; van Duijnhoven F; Feskens EJM; Sakoda LC; Gago-Dominguez M; Wolk A; Pardini B; FitzGerald LM; Lee SC; Ogino S; Bien SA; Kooperberg C; Li CI; Lin Y; Prentice R; Qu C; Bezieau S; Yamaji T; Sawada N; Iwasaki M; Le Marchand L; Wu AH; Qu C; McNeil CE; Coetzee G; Hayward C; Deary IJ; Harris SE; Theodoratou E; Reid S; Walker M; Ooi LY; Lau KS; Zhao H; Hsu L; Cai Q; Dunlop MG; Gruber SB; Houlston RS; Moreno V; Casey G; Peters U; Tomlinson I; Zheng W
• Editorial: BLOOD. 2024;143(17):1682-1684

  New signature predicts MBL-to-CLL progression.

  Rosenquist R
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):169

  Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients

  Arponen H; Vakkilainen S; Tomnikov N; Kallonen T; Silling S; Maekitie O; Rautava J
• Preprint: RESEARCH SQUARE. 2024

  Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes

  Møller P; Haupt S; Ahadova A; Kloor M; Sampson J; Sunde L; Seppälä TT; Burn J; Bernstein I; Capella G; Evans G; Lindblom A; Winship I; Macrae F; Katz L; Laish I; Vainer E; Monahan K; Half E; Horisberger K; Silva LAD; Heuveline V; Therkildsen C; Lautrup C; Klarskov L; Cavestro GM; Möslein G; Hovig E; Dominguez-Valentin M
• Doctoral thesis: 2024

  Genetic studies of rare skeletal disorders : to solve the unsolved

  Batkovskyte D
• Review: MOLECULAR ASPECTS OF MEDICINE. 2024;96:101250

  Current and emerging sequencing-based tools for precision cancer medicine.

  Edsjö A; Gisselsson D; Staaf J; Holmquist L; Fioretos T; Cavelier L; Rosenquist R
• Article: LANCET REGIONAL HEALTH-EUROPE. 2024;39:100881

  Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study

  Tesi B; Robinson KL; Abel F; Stahl TDD; Orrsjoe S; Poluha A; Hellberg M; Wessman S; Samuelsson S; Frisk T; Vogt H; Henning K; Sabel M; Ek T; Pal N; Nyman P; Giraud G; Wille J; Pronk CJ; Noren-Nystroem U; Borssen M; Fili M; Stalhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebaeck P; Kogner P; Smoler GK; Laehteenmaeki P; Fransso S; Martinsson T; Shamik A; Mertens F; Rosenquist R; Wirta V; Tham E; Grillner P; Sandgren J; Ljungman G; Gisselsson D; Taylan F; Nordgren A
• Article: SEMINARS IN HEMATOLOGY. 2024;61(2):91-99

  B-cell receptor immunoglobulin stereotypy in chronic lymphocytic leukemia: Key to understanding disease biology and stratifying patients

  Agathangelidis A; Chatzikonstantinou T; Stamatopoulos K
• Article: ORAL ONCOLOGY. 2024;151:106749

  Human papillomavirus (HPV) load is higher in HPVDNA/p16 positive than in HPVDNA positive/p16 negative oropharyngeal squamous cell carcinoma but does not differ significantly between various subsites or correlate to survival

  Zupancic M; Kostopoulou ON; Holzhauser S; Lukoseviciute M; Jylha C; Marklund L; Nasman A; Sivars L; Dalianis T
• Letter: AMERICAN JOURNAL OF HEMATOLOGY. 2024;99(4):745-750

  Additional booster doses in patients with chronic lymphocytic leukemia induce humoral and cellular immune responses to SARS-CoV-2 similar to natural infection regardless ongoing treatments: A study by ERIC, the European Research Initiative on CLL

  Campanella A; Capasso A; Heltai S; Taccetti C; Albi E; Herishanu Y; Haggenburg S; Chatzikonstantinou T; Doubek M; Kattstrom M; Giannopoulos K; Simkovic M; Moreno C; Massaia M; Bumbea H; Alshemmari S; Ranghetti P; Perotta E; Martini F; Sant'Antonio E; Colia M; Combi C; Levi S; Kater AP; Hazenberg M; Nijhof IS; Hofsink Q; Demosthenous C; Kotaskova J; Zaleska J; Vrbacky F; Raya AM; Bisogno D; Tripoli IE; Popov VM; Roman V; Stavroyianni N; Karypidou M; Scarano E; Locatelli M; Frenquelli M; Scarfo L; Stamatopoulos K; Ghia P
• Article: NATURE COMMUNICATIONS. 2024;15(1):2367

  The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

  Xie M; Kaiser M; Gershtein Y; Schnyder D; Deviatiiarov R; Gazizova G; Shagimardanova E; Zikmund T; Kerckhofs G; Ivashkin E; Batkovskyte D; Newton PT; Andersson O; Fried K; Gusev O; Zeberg H; Kaiser J; Adameyko I; Chagin AS
• Article: JBMR PLUS. 2024;8(4):ziae017

  Demographic and disease-related factors impact bone turnover and vitamin D in children with hemato-oncological diseases

  Jackmann N; Gustafsson J; Utriainen P; Magnusson P; Harila A; Atanasova D; Rinaldo C; Frisk P; Makitie O
• Letter: LEUKEMIA. 2024;38(3):679-680

  Updates of the ERIC recommendations on how to report the results from immunoglobulin heavy variable gene analysis in chronic lymphocytic leukemia

  Chatzikonstantinou T; Agathangelidis A; Chatzidimitriou A; Tresoldi C; Davis Z; Giudicelli V; Kossida S; Belessi C; Rosenquist R; Ghia P; Langerak AW; Davi F; Stamatopoulos K
• Article: HAEMATOLOGICA. 2024;109(3):824-834

  Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia

  Quinten E; Sepulveda-Yanez JH; Koning MT; Eken JA; Pfeifer D; Nteleah V; de Groen RAL; Saravia DA; Knijnenburg J; Stuivenberg-Bleijswijk HE; Pantic M; Agathangelidis A; Keppler-Hafkemeyer A; van Bergen CAM; Uribe-Paredes R; Stamatopoulos K; Vermaat JSP; Zirlik K; Navarrete MA; Jumaa H; Veelken H
• Article: CANCERS. 2024;16(5):953

  Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

  Hendricks LAJ; Verbeek KCJ; Schuurs-Hoeijmakers JHM; Mensenkamp AR; Brems H; de Putter R; Anastasiadou VC; Villy M-C; Jahn A; Steinke-Lange V; Baldassarri M; Irmejs A; de Jong MM; Links TP; Leter EM; Bosch DGM; Hoberg-Vetti H; Tveit Haavind M; Jorgensen K; Maehle L; Blatnik A; Brunet J; Darder E; Tham E; Hoogerbrugge N; Vos JR
• Article: NPJ PRECISION ONCOLOGY. 2024;8(1):44

  Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm

  Arthur C; Carlson L-M; Svoboda J; Sandvik U; Jylha C; Nordenskjold M; Holm S; Tham E
• Preprint: MEDRXIV. 2024;MEDRXIV

  Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction.

  Yiangou K; Mavaddat N; Dennis J; Zanti M; Wang Q; Bolla MK; Abubakar M; Ahearn TU; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Aronson KJ; Augustinsson A; Baten A; Behrens S; Bermisheva M; de Gonzalez AB; Białkowska K; Boddicker N; Bodelon C; Bogdanova NV; Bojesen SE; Brantley KD; Brauch H; Brenner H; Camp NJ; Canzian F; Castelao JE; Cessna MH; Chang-Claude J; Chenevix-Trench G; Chung WK; NBCS Collaborators; Colonna SV; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Dörk T; Dunning AM; Eccles DM; Eliassen AH; Engel C; Eriksson M; Evans DG; Fasching PA; Fletcher O; Flyger H; Fritschi L; Gago-Dominguez M; Gentry-Maharaj A; González-Neira A; Guénel P; Hahnen E; Haiman CA; Hamann U; Hartikainen JM; Ho V; Hodge J; Hollestelle A; Honisch E; Hooning MJ; Hoppe R; Hopper JL; Howell S; Howell A; ABCTB Investigators; kConFab Investigators; Jakovchevska S; Jakubowska A; Jernström H; Johnson N; Kaaks R; Khusnutdinova EK; Kitahara CM; Koutros S; Kristensen VN; Lacey JV; Lambrechts D; Lejbkowicz F; Lindblom A; Lush M; Mannermaa A; Mavroudis D; Menon U; Murphy RA; Nevanlinna H; Obi N; Offit K; Park-Simon T-W; Patel AV; Peng C; Peterlongo P; Pita G; Plaseska-Karanfilska D; Pylkäs K; Radice P; Rashid MU; Rennert G; Roberts E; Rodriguez J; Romero A; Rosenberg EH; Saloustros E; Sandler DP; Sawyer EJ; Schmutzler RK; Scott CG; Shu X-O; Southey MC; Stone J; Taylor JA; Teras LR; van de Beek I; Willett W; Winqvist R; Zheng W; Vachon CM; Schmidt MK; Hall P; MacInnis RJ; Milne RL; Pharoah PDP; Simard J; Antoniou AC; Easton DF; Michailidou K
• Editorial: FRONTIERS IN ONCOLOGY. 2024;14:1368676

  Editorial: Decoding the genome of acute lymphoblastic leukemia through genomic and transcriptomic approaches

  Jimenez-Morales S; Rojas-Martinez A; Barbany G
• Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: GLOBAL. 2024;3(1):100190

  Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia

  Pello E; Kainulainen L; Vakkilainen M; Klemetti P; Taskinen M; Makitie O; Vakkilainen S
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2024;42(4):452-466

  Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes

  Noerenberg D; Briest F; Hennch C; Yoshida K; Hablesreiter R; Takeuchi Y; Ueno H; Staiger AM; Ziepert M; Asmar F; Locher BN; Toth E; Weber T; Amini R-M; Klapper W; Bouzani M; Poeschel V; Rosenwald A; Held G; Campo E; Ishaque N; Stamatopoulos K; Kanellis G; Anagnostopoulos I; Bullinger L; Goldschmidt N; Zinzani PL; Boedoer C; Rosenquist R; Vassilakopoulos TP; Ott G; Ogawa S; Damm F
• Review: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2024;47(2):285-298

  Bone fragility and osteoporosis in children and young adults

  Formosa MM; Christou MA; Makitie O
• Article: CANCER CAUSES & CONTROL. 2024;35(2):367-376

  Combined associations of a healthy lifestyle and body mass index with colorectal cancer recurrence and survival: a cohort study

  Barot S; Rantanen P; Nordenvall C; Lindforss U; Everhov AH; Larsson SC; Lindblom A; Liljegren A
• Article: CALCIFIED TISSUE INTERNATIONAL. 2024;114(2):157-170

  PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families

  Costa A; Martins A; Machado C; Lundberg E; Nilsson O; Wang F; Costantini A; Tournis S; Hoeppner J; Grasemann C; Maekitie O
• Article: INTERNATIONAL JOURNAL OF OBESITY. 2024;48(5):709-716

  Allometric versus traditional body-shape indices and risk of colorectal cancer: a Mendelian randomization analysis

  Rontogianni MO; Bouras E; Aglago EK; Freisling H; Murphy N; Cotterchio M; Hampe J; Lindblom A; Pai RK; Pharoah PDP; Phipps AI; van Duijnhoven FJB; Visvanathan K; van Guelpen B; Li CI; Brenner H; Pellatt AJ; Ogino S; Gunter MJ; Peters U; Christakoudi S; Tsilidis KK
• Article: FRONTIERS IN ENDOCRINOLOGY. 2024;14:1142310

  A novel link between chronic inflammation and humanin regulation in children

  Zhao Y; Makitie O; Laakso S; Fedosova V; Savendahl L; Zaman F
• Article: JOURNAL OF MEDICAL GENETICS. 2024;61(2):150-154

  Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer

  Baliakas P; Munters AR; Kampe A; Tesi B; Bondeson M-L; Ladenvall C; Eriksson D
• Article: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. 2024;31(1):61-74

  Oxidative stress-related genetic variation and antioxidant vitamin intake in intact and ruptured abdominal aortic aneurysm: a Swedish population-based retrospective cohort study

  Vats S; Sundquist K; Sundquist J; Zhang N; Wang X; Acosta S; Gottsater A; Memon AA
• Article: CLINICAL GENETICS. 2024;105(1):87-91

  Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome

  Batkovskyte D; Komatsu M; Hammarsjo A; Pooh R; Shimokawa O; Ikegawa S; Grigelioniene G; Nishimura G; Yamada T
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:142

  USP7 is a new candidate gene for nonsyndromic polydactyly

  Hussain S; Raza A; Muurinen M; Hayat A; Loid P; Basit S; Makitie O; Ahmad W
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:641

  Whole genome sequencing as the sole method to characterize genetically pediatric B-cell precursor acute lymphoblastic leukemia in a diagnostic setting

  Rezayee F; Eisfeldt J; Skaftasson A; Ofverholm I; Nordlund J; Sayyab S; Arvidsson L; Johansson B; Fioretos T; Pietras CO; Fogelstrand L; Staffas A; Palmqvist L; Franco LC; Wirta V; Brandell RR; Barbany G
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524

  Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders

  Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
• Article: NEURO-ONCOLOGY ADVANCES. 2024;6(1):vdae008

  The potential of liquid biopsy for detection of the KIAA1549-BRAF fusion in circulating tumor DNA from children with pilocytic astrocytoma

  Krynina O; de Stahl TD; Jylhae C; Arthur C; Giraud G; Nyman P; Fritzberg A; Sandgren J; Tham E; Sandvik U
• Journal article: LEUKEMIA. 2024;38(11):2429-2442

  The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia

  Hagerstrand D; Oder B; Cortese D; Qu Y; Binzer-Panchal A; Osterholm C; Del Peso Santos T; Rabbani L; Asl HF; Skaftason A; Ljungstrom V; Lundholm A; Koutroumani M; Haider Z; Jylha C; Mollstedt J; Mansouri L; Plevova K; Agathangelidis A; Scarfo L; Armand M; Muggen AF; Kay NE; Shanafelt T; Rossi D; Orre LM; Pospisilova S; Barylyuk K; Davi F; Vesterlund M; Langerak AW; Lehtio J; Ghia P; Stamatopoulos K; Sutton L-A; Rosenquist R
• Preprint: ELSEVIER BV. 2024

  Precision Omics Initiative Sweden (PROMISE): A New Model for Biomedical Research

  Kä mpe A; Gudmundsson S; Walsh C; Lindblad-Toh K; Johansson AS; Clareborn A; Ameur A; Edsjö A; Fioretos T; Ehrencrona H; Eriksson D; Fall T; Franks P; Gyllensten U; Haag M; Hagwall A; Lehtiö J; Lu Y; Magnusson P; Melén E; Melin B; Michaëlsson K; Nordgren A; Nordlund J; Schwenk JM; Sikora P; Sundström J; Taylan F; van Guelpen B; Wadelius M; Wedell A; Wirta V; Östling P; Jacobsson B; Sjöblom T; Persson B; Rosenquist R; Lindstrand A; Lappalainen T
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:568

  Lifestyle factors and breast cancer risk in females with PTEN Hamartoma Tumor Syndrome

  Hendricks L; Verbeek K; Schuurs-Hoeijmakers J; Mensenkamp A; Brems H; de Putter R; Anastasiadou V; Colas C; Jahn A; Steinke-Lange V; Renieri A; Irmejs A; Olderode-Berends M; Links T; Leter E; Bosch D; Vetti HH; Haavind MT; Jorgensen K; Maehle L; Blatnik A; Lleuger-Pujol R; Brunet J; Tham E; Hoogerbrugge N; Vos J
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:915

  Whole exome sequencing in a family with familial colorectal cancer

  Helgadottir HT; Lundin P; Lindblom A
• Article: THERAPEUTIC ADVANCES IN CHRONIC DISEASE. 2024;15:20406223241247643

  Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis

  Boot AM; Ariceta G; Beck-Nielsen SS; Brandi ML; Briot K; Collantes CDL; Giannini S; Haffner D; Keen R; Levtchenko E; Mughal MZ; Makitie O; Nilsson O; Schnabel D; Tripto-Shkolnik L; Zillikens MC; Liu J; Tudor A; Emma F
• Review: BLOOD ADVANCES. 2023;7(23):7382-7383

  Time to include IGLV3-21R110 status in CLL prognostication?

  Rosenquist R
• Article: NPJ PRECISION ONCOLOGY. 2023;7(1):131

  Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

  Krali O; Marincevic-Zuniga Y; Arvidsson G; Enblad AP; Lundmark A; Sayyab S; Zachariadis V; Heinaniemi M; Suhonen J; Oksa L; Vepsaelaeinen K; Ofverholm I; Barbany G; Nordgren A; Lilljebjorn H; Fioretos T; Madsen HO; Marquart HV; Flaegstad T; Forestier E; Jonsson OG; Kanerva J; Lohi O; Noren-Nystrom U; Schmiegelow K; Harila A; Heyman M; Lonnerholm G; Syvanen A-C; Nordlund J
• Article: ACTA ONCOLOGICA. 2023;62(12):1649-1652

  Prevalence of human papillomavirus (HPV) types 16 and 18 in cervical cancer in Stockholm, Sweden during 2019-2023 compared to 2003-2008

  Sivars L; Holzhauser S; Ramqvist T; Tham E; Hellman K; Dalianis T
• Article: WORLD JOURNAL OF UROLOGY. 2023;41(12):3421-3427

  Patient-specific targeted analysis of circulating tumour DNA in plasma is feasible and may be a potential biomarker in UTUC

  Mu N; Jylha C; Axelsson T; Syden F; Brehmer M; Tham E
• Article: WORLD JOURNAL OF UROLOGY. 2023;41(12):3405-3411

  Consultation on UTUC II Stockholm 2022: diagnostic and prognostic methods-what's around the corner?

  Grahn A; Coleman JA; Eriksson Y; Gabrielsson S; Madsen JS; Tham E; Thomas K; Turney B; Uhlen P; Vollmer T; Zieger K; Osther PJS; Brehmer M
• Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(6):690-707

  Sarcoma care in the era of precision medicine

  Wallander K; Ofverholm I; Boye K; Tsagkozis P; Papakonstantinou A; Lin Y; de Flon FH
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2023;98(12):1856-1868

  The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL

  Visentin A; Chatzikonstantinou T; Scarfo L; Kapetanakis A; Demosthenous C; Karakatsoulis G; Minga E; Chamou D; Allsup D; Cabrero AA; Andres M; Antic D; Baile M; Baliakas P; Besikli-Dimou S; Bron D; Chatzileontiadou S; Cordoba R; Correa J-G; Cuellar-Garcia C; De Paoli L; De Paolis MR; Delgado J; Dimou M; Donaldson D; Catherwood M; Doubek M; Efstathopoulou M; Eichhorst B; Elashwah S; Enrico A; Espinet B; Farina L; Ferrari A; Foglietta M; Frederiksen H; Furstenau M; Garcia-Marco JA; Garcia-Serra R; Collado R; Gentile M; Gimeno E; Glenthoj A; da Silva MG; Hakobyan YK; Herishanu Y; Hernandez-Rivas JA; Herold T; Innocenti I; Itchaki G; Jaksic O; Janssens A; Kalashnikova OB; Kalicinska E; Kater AP; Kersting S; Labrador J; Lad D; Laurenti L; Levin M-D; Lista E; Lopez-Garcia A; Malerba L; Marasca R; Marchetti M; Marquet J; Mattsson M; Mauro FR; Morawska M; Motta M; Munir T; Murru R; Niemann CU; Rodrigues RN; Olivieri J; Orsucci L; Papaioannou M; Pavlovsky MA; Piskunova I; Popov VM; Quaglia FM; Quaresmini G; Qvist K; Rigolin GM; Ruchlemer R; Simkovic M; Spacek M; Sportoletti P; Stanca O; Tadmor T; Capasso A; Del Poeta G; Gutwein O; Karlsson LK; Milosevic I; Miras F; Reda G; Saghumyan G; Shrestha A; Raa DT; Tonino SH; Van Der Spek E; van Gelder M; van Kampen R; Wasik-Szczepanek E; Wrobel T; San Segundo LY; Yassin M; Pocali B; Vandenberghe E; Iyengar S; Varettoni M; Vitale C; Coscia M; Rambaldi A; Montserrat E; Cuneo A; Stavroyianni N; Trentin L; Stamatopoulos K; Ghia P
• Article: FRONTIERS IN MICROBIOLOGY. 2023;14:1292230

  High risk HPV-positive women cervicovaginal microbial profiles in a Greek cohort: a retrospective analysis of the GRECOSELF study

  Sofou E; Gkoliou G; Pechlivanis N; Pasentsis K; Chatzistamatiou K; Psomopoulos F; Agorastos T; Stamatopoulos K
• Article: JOURNAL OF MEDICAL GENETICS. 2023;60(12):1186-1197

  Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

  Levi H; Carmi S; Rosset S; Yerushalmi R; Zick A; Yablonski-Peretz T; Wang Q; Bolla MK; Dennis J; Michailidou K; Lush M; Ahearn T; Andrulis IL; Anton-Culver H; Antoniou AC; Arndt V; Augustinsson A; Auvinen P; Freeman LB; Beckmann M; Behrens S; Bermisheva M; Bodelon C; Bogdanova NV; Bojesen SE; Brenner H; Byers H; Camp N; Castelao J; Chang-Claude J; Chirlaque M-D; Chung W; Clarke C; Collee MJ; Colonna S; Couch F; Cox A; Cross SS; Czene K; Daly M; Devilee P; Dork T; Dossus L; Eccles DM; Eliassen AH; Eriksson M; Evans G; Fasching P; Fletcher O; Flyger H; Fritschi L; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Genkinger J; Giles GG; Goldberg M; Guenel P; Hall P; Hamann U; He W; Hillemanns P; Hollestelle A; Hoppe R; Hopper J; Jakovchevska S; Jakubowska A; Jernstrom H; John E; Johnson N; Jones M; Vijai J; Kaaks R; Khusnutdinova E; Kitahara C; Koutros S; Kristensen V; Kurian AW; Lacey J; Lambrechts D; Le Marchand L; Lejbkowicz F; Lindblom A; Loibl S; Lori A; Lubinski J; Mannermaa A; Manoochehri M; Mavroudis D; Menon U; Mulligan A; Murphy R; Nevelsteen I; Newman WG; Obi N; O'Brien K; Offit K; Olshan A; Plaseska-Karanfilska D; Olson J; Panico S; Park-Simon T-W; Patel A; Peterlongo P; Rack B; Radice P; Rennert G; Rhenius V; Romero A; Saloustros E; Sandler D; Schmidt MK; Schwentner L; Shah M; Sharma P; Simard J; Southey M; Stone J; Tapper WJ; Taylor J; Teras L; Toland AE; Troester M; Truong T; van der Kolk LE; Weinberg C; Wendt C; Yang XR; Zheng W; Ziogas A; Dunning AM; Pharoah P; Easton DF; Ben-Sachar S; Elefant N; Shamir R; Elkon R
• Article: NPJ GENOMIC MEDICINE. 2023;8(1):39

  Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

  Jacob P; Lindelof H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjo A; Bhavani GS; Batkovskyte D; Tveten K; Dalal A; Horemuzova E; Nordgren A; Tham E; Shah H; Merckoll E; Orellana L; Nishimura G; Girisha KM; Grigelioniene G
• Article: LEUKEMIA. 2023;37(11):2237-2249

  Frequent ZNF217 mutations lead to transcriptional deregulation of interferon signal transduction via altered chromatin accessibility in B cell lymphoma

  Briest F; Noerenberg D; Hennch C; Yoshida K; Hablesreiter R; Nimo J; Sasca D; Kirchner M; Mansouri L; Inoue Y; Wiegand L; Staiger AM; Casadei B; Korkolopoulou P; Weiner J; Lopez-Guillermo A; Warth A; Schneider T; Nagy A; Klapper W; Hummel M; Kanellis G; Anagnostopoulos I; Mertins P; Bullinger L; Rosenquist R; Vassilakopoulos TP; Ott G; Ogawa S; Damm F
• Article: NATURE GENETICS. 2023;55(11):1820-1830

  An atlas of genetic determinants of forearm fracture

  Nethander M; Moverare-Skrtic S; Kampe A; Coward E; Reimann E; Grahnemo L; Borbely E; Helyes Z; Funck-Brentano T; Cohen-Solal M; Tuukkanen J; Koskela A; Wu J; Li L; Lu T; Gabrielsen ME; Magi R; Hoff M; Lerner UH; Henning P; Ullum H; Erikstrup C; Brunak S; Langhammer A; Tuomi T; Oddsson A; Stefansson K; Pettersson-Kymmer U; Ostrowski SR; Pedersen OBV; Styrkarsdottir U; Makitie O; Hveem K; Richards JB; Ohlsson C
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2023;108(11):2879-2885

  Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study

  Borchers J; Pukkala E; Makitie O; Laakso S
• Review: HEREDITARY CANCER IN CLINICAL PRACTICE. 2023;21(1):19

  Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

  Moller P; Seppala TT; Ahadova A; Crosbie EJ; Holinski-Feder E; Scott R; Haupt S; Moeslein G; Winship I; Bajwa-ten Broeke SW; Kohut KE; Ryan N; Bauerfeind P; Thomas LE; Evans DG; Aretz S; Sijmons RH; Half E; Heinimann K; Horisberger K; Monahan K; Engel C; Cavestro GM; Fruscio R; Abu-Freha N; Zohar L; Laghi L; Bertario L; Bonanni B; Tibiletti MG; Lino-Silva LS; Vaccaro C; Della Valle A; Rossi BM; da Silva LA; Nascimento ILDO; Rossi NT; Debniak T; Mecklin J-P; Bernstein I; Lindblom A; Sunde L; Nakken S; Heuveline V; Burn J; Hovig E; Kloor M; Sampson JR; Dominguez-Valentin M
• Review: FRONTIERS IN ENDOCRINOLOGY. 2023;14:1224318

  SGMS2 in primary osteoporosis with facial nerve palsy

  Pihlstrom S; Richardt S; Maatta K; Pekkinen M; Olkkonen VM; Makitie O; Maekitie RE
• Preprint: BIORXIV. 2023

  The Minimal Dataset for Cancer of the 1+Million Genomes Initiative

  Riba M; Sala C; Culhane A; Flobak Å; Patocs A; Boye K; Plevova K; Pospíšilová Š; Gandolfi G; Morelli MJ; Bucci G; Edsjö A; Lassen U; Al-Shahrour F; Lopez-Bigas N; Hovland R; Cuppen E; Valencia A; Antoine-Poirel H; Brandell RR; Scollen S; Marquez JA; Belien J; De Nicolo A; De Maria R; Torrents D; Tonon G
• Article: JOURNAL OF TRANSLATIONAL MEDICINE. 2023;21(1):696

  Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer

  Li Y; Sundquist K; Vats S; Hong M-G; Wang X; Chen Y; Hedelius A; Saal LH; Sundquist J; Memon AA
• Article: NATURE COMMUNICATIONS. 2023;14(1):6147

  Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

  Thomas M; Su Y-R; Rosenthal EA; Sakoda LC; Schmit SL; Timofeeva MN; Chen Z; Fernandez-Rozadilla C; Law PJ; Murphy N; Carreras-Torres R; Diez-Obrero V; van Duijnhoven FJB; Jiang S; Shin A; Wolk A; Phipps AI; Burnett-Hartman A; Gsur A; Chan AT; Zauber AG; Wu AH; Lindblom A; Um CY; Tangen CM; Gignoux C; Newton C; Haiman CA; Qu C; Bishop DT; Buchanan DD; Crosslin DR; Conti DV; Kim D-H; Hauser E; White E; Siegel E; Schumacher FR; Rennert G; Giles GG; Hampel H; Brenner H; Oze I; Oh JH; Lee JK; Schneider JL; Chang-Claude J; Kim J; Huyghe JR; Zheng J; Hampe J; Greenson J; Hopper JL; Palmer JR; Visvanathan K; Matsuo K; Matsuda K; Jung KJ; Li L; Le Marchand L; Vodickova L; Bujanda L; Gunter MJ; Matejcic M; Jenkins MA; Slattery ML; D'Amato M; Wang M; Hoffmeister M; Woods MO; Kim M; Song M; Iwasaki M; Du M; Udaltsova N; Sawada N; Vodicka P; Campbell PT; Newcomb PA; Cai Q; Pearlman R; Pai RK; Schoen RE; Steinfelder RS; Haile RW; Vandenputtelaar R; Prentice RL; Kuery S; Castellvi-Bel S; Tsugane S; Berndt SI; Lee SC; Brezina S; Weinstein SJ; Chanock SJ; Jee SH; Kweon S-S; Vadaparampil S; Harrison TA; Yamaji T; Keku TO; Vymetalkova V; Arndt V; Jia W-H; Shu X-O; Lin Y; Ahn Y-O; Stadler ZK; Van Guelpen B; Ulrich CM; Platz EA; Potter JD; Li CI; Meester R; Moreno V; Figueiredo JC; Casey G; Lansdorp Vogelaar I; Dunlop MG; Gruber SB; Hayes RB; Pharoah PDP; Houlston RS; Jarvik GP; Tomlinson IP; Zheng W; Corley DA; Peters U; Hsu L
• Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):437-454

  Implementation of precision medicine in healthcare-A European perspective

  Stenzinger A; Moltzen EK; Winkler E; Molnar-Gabor F; Malek N; Costescu A; Jensen BN; Nowak F; Pinto C; Ottersen OP; Schirmacher P; Nordborg J; Seufferlein T; Froehling S; Edsjoe A; Garcia-Foncillas J; Normanno N; Lundgren B; Friedman M; Bolanos N; Tatton-Brown K; Hill S; Rosenquist R
• Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):413-436

  Novel precision medicine approaches and treatment strategies in hematological malignancies

  Rosenquist R; Bernard E; Erkers T; Scott DW; Itzykson R; Rousselot P; Soulier J; Hutchings M; Ostling P; Cavelier L; Fioretos T; Smedby KE
• Article: HAEMATOLOGICA. 2023;108(10):2664-2676

  Subgroup-specific gene expression profiles and mixed epistasis in chronic lymphocytic leukemia.

  Lütge A; Lu J; Hüllein J; Walther T; Sellner L; Wu B; Rosenquist R; Oakes CC; Dietrich S; Huber W; Zenz T
• Journal article: GASTROENTEROLOGY. 2023;165(4):1070-1076.e3

  Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

  Mahmood K; Thomas M; Qu C; Hsu L; Buchanan DD; Peters U
• Journal article: ANNALS OF ONCOLOGY. 2023;34:s537

  Cell-free human papillomavirus (HPV) DNA is a sensitive biomarker for monitoring treatment response and for detecting relapse in locally advanced cervical cancer

  Sivars L; Tham E; Hellman K
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2023;75:s151-s152

  W88. PHENOTYPIC AND GENETIC CHARACTERIZATION OF INDIVIDUALS WITH SCHIZOPHRENIA AND HIGH PSYCHIATRIC HOSPITALIZATION BURDEN

  Kämpe A; Suvisaari J; Lähteenvuo M; Vartiainen E; Singh T; Ahola-Olli A; Urpa L; Researchers S-F; Daly M; Taylor J; Kendler K; Palotie A; Pietiläinen O
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):304

  The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

  Ariceta G; Beck-Nielsen SS; Boot AM; Brandi ML; Briot K; Collantes CDL; Emma F; Giannini S; Haffner D; Keen R; Levtchenko E; Makitie O; Mughal MZ; Nilsson O; Schnabel D; Tripto-Shkolnik L; Liu J; Williams A; Wood S; Zillikens MC
• Preprint: RESEARCH SQUARE. 2023

  Polygenic Liability for Antipsychotic Dosage and Polypharmacy - A Real-World Registry and Biobank Study

  Koch E; Kämpe A; Alver M; Sigurðarson S; Einarsson G; Partanen J; Smith R; Jaholkowski P; Taipale H; Lähteenvuo M; Steen NE; Smeland O; Djurovic S; Molden E; Sigurdsson E; Stefánsson H; Stefansson K; Palotie A; Milani L; O'Connell K; Andreassen O
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2023;108(10):e1082-e1091

  Alkaline Phosphatase and Hyperphosphatasemia in Vitamin D Trial in Healthy Infants and Toddlers

  Pontan F; Hauta-alus H; Valkama S; Rosendahl J; Enlund-Cerullo M; Andersson S; Makitie O; Holmlund-Suila E
• Article: BMC MUSCULOSKELETAL DISORDERS. 2023;24(1):735

  Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

  Ishaq T; Loid P; Ishaq HA; Seo GH; Makitie O; Naz S
• Article: HUMAN MUTATION. 2023;2023:9961341-17

  A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

  Zanti M; O'Mahony DG; Parsons MT; Li H; Dennis J; Aittomakkiki K; Andrulis IL; Anton-Culver H; Aronson KJ; Augustinsson A; Becher H; Bojesen SE; Bolla MK; Brenner H; Brown MA; Buys SS; Canzian F; Caputo SM; Castelao JE; Chang-Claude J; Czene K; Daly MB; De Nicolo A; Devilee P; Dork T; Dunning AM; Dwek M; Eccles DM; Engel C; Evans DG; Fasching PA; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Gentry-Maharaj A; Geurts-Giele WRR; Giles GG; Glendon G; Goldberg MS; Garcia EBG; Guendert M; Guenel P; Hahnen E; Haiman CA; Hall P; Hamann U; Harkness EF; Hogervorst FBL; Hollestelle A; Hoppe R; Hopper JL; Houdayer C; Houlston RS; Howell A; Investigators A; Jakimovska M; Jakubowska A; Jernstrom H; John EM; Kaaks R; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Lacey JV; Lambrechts D; Leone M; Lindblom A; Lush M; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Menon U; Milne RL; Monteiro AN; Murphy RA; Neuhausen SL; Nevanlinna H; Newman WG; Offit K; Park SK; James P; Peterlongo P; Peto J; Plaseska-Karanfilska D; Punie K; Radice P; Rashid MU; Rennert G; Romero A; Rosenberg EH; Saloustros E; Sandler DP; Schmidt MK; Schmutzler RK; Shu X-O; Simard J; Southey MC; Stone J; Stoppa-Lyonnet D; Tamimi RM; Tapper WJ; Taylor JA; Teo SH; Teras LR; Terry MB; Thomassen M; Troester MA; Vachon CM; Vega A; Vreeswijk MPG; Wang Q; Wappenschmidt B; Weinberg CR; Wolk A; Zheng W; Feng B; Couch FJ; Spurdle AB; Easton DF; Goldgar DE; Michailidou K
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2023;115(9):1050-1059

  Lung cancer risk discrimination of prediagnostic proteomics measurements compared with existing prediction tools

  Feng X; Wu WY-Y; Onwuka JU; Haider Z; Alcala K; Smith-Byrne K; Zahed H; Guida F; Wang R; Bassett JK; Stevens V; Wang Y; Weinstein S; Freedman ND; Chen C; Tinker L; Nost TH; Koh W-P; Muller D; Colorado-Yohar SM; Tumino R; Hung RJ; Amos CI; Lin X; Zhang X; Arslan AA; Sanchez M-J; Sorgjerd EP; Severi G; Hveem K; Brennan P; Langhammer A; Milne RL; Yuan J-M; Melin B; Johansson M; Robbins HA; Johansson M
• Doctoral thesis: 2023

  Liquid biopsies in pediatric oncology : towards clinical implementation

  Arthur C
• Article: GENES CHROMOSOMES & CANCER. 2023;62(9):557-563

  Real-world data for precision cancer medicine-A European perspective.

  Christopoulos P; Schlenk R; Kazdal D; Blasi M; Lennerz J; Shah R; Budczies J; Malek N; Fröhling S; Rosenquist R; Schirmacher P; Bozorgmehr F; Kuon J; Reck M; Thomas M; Stenzinger A
• Corrigendum: LEUKEMIA. 2023;37(9):1944-1951

  The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms (vol 36, pg 1720, 2022)

  Alaggio R; Amador C; Anagnostopoulos I; Attygalle AD; de Oliveira Araujo IB; Berti E; Bhagat G; Borges AM; Boyer D; Calaminici M; Chadburn A; Chan JKC; Cheuk W; Chng W-J; Choi JK; Chuang S-S; Coupland SE; Czader M; Dave SS; de Jong D; Di Napoli A; Du M-Q; Elenitoba-Johnson KS; Ferry J; Geyer J; Gratzinger D; Guitart J; Gujral S; Harris M; Harrison CJ; Hartmann S; Hochhaus A; Jansen PM; Karube K; Kempf W; Khoury J; Kimura H; Klapper W; Kovach AE; Kumar S; Lazar AJ; Lazzi S; Leoncini L; Leung N; Leventaki V; Li X-Q; Lim MS; Liu W-P; Louissaint AJ; Marcogliese A; Medeiros LJ; Michal M; Miranda RN; Mitteldorf C; Montes-Moreno S; Morice W; Nardi V; Naresh KN; Natkunam Y; Ng S-B; Oschlies I; Ott G; Parrens M; Pulitzer M; Rajkumar SV; Rawstron AC; Rech K; Rosenwald A; Said J; Sarkozy C; Sayed S; Saygin C; Schuh A; Sewell W; Siebert R; Sohani AR; Suzuki R; Tooze R; Traverse-Glehen A; Vega F; Vergier B; Wechalekar AD; Wood B; Xerri L; Xiao W; Akinola NO; Akkari Y; Allende LM; Aozasa K; Araujo I; Arcaini L; Ardeshna KM; Asano N; Attarbaschi A; Bacon CM; Barrans SL; Batchelor T; Battistella M; Baughn LB; Behdad A; Berentsen S; Bianchi G; Bledsoe J; Borchmann P; Bower M; Buldini B; Burger JA; Burkhardt B; Cassaday RD; Cazzaniga G; Cerf-Bensussan N; Cesarman E; Chandy M; Chapman JR; Chapuy B; Chen X; Cheng CL; Chiattone C; Chiorazzi N; Cook LB; Cooper WA; Corboy GP; Cowan AJ; Cozzolino I; Cree IA; d'Amore ESG; Davies AJ; Deckert M; Delabie J; Demicco EG; Deshpande V; Diepstra A; Dierickx D; Dunleavy K; Eichhorst B; Ennishi D; Fajgenbaum DC; Farinha P; Fernandez de Larrea C; Fisher KE; Fitzgibbon J; Flanagan M; Fromm J; Garcia JF; Geddie WR; Gertz M; Gopal A; Gopal S; Greipp PT; Gru A; Gupta R; Hansmann M-L; Hebeda KM; Herfarth K; Herling M; Hermine O; Khe H-X; Hodge J; Hu S; Huang Y; Hung YP; Hunger S; Inaba H; Inagaki H; Iqbal J; Ishitsuka K; Iwaki N; Iwatsuki K; Jain N; Jeon YK; Kadin M; Kaji S; Kakkar A; Karadimitris A; Kataoka K; Kato S; Kersten MJ; Ketterling RP; Kim JE; Kratz CP; Kridel R; Kristinsson S; Kuppers R; Kuzu I; Yok-Lam; Lacasce A; Lamant-Rochaix L; Lamy T; Landgren O; Laskar S; Laskin WB; Lenz G; Li S; Di Li G; Lin P; Locatelli F; Lorsbach RB; Lossos I; Loughran TPJ; Macon WR; Maleszewski JJ; Malhotra P; Marafioti T; Maruyama D; Marx A; Mbulaiteye SM; Meignin V; Mejstrikova E; Michelow P; Miettinen M; Miles RR; Miyoshi H; Molina TJ; Mollejo M; Momose S; Mori T; Morice WG; Nadel B; Nagai H; Nagane M; Nair R; Nakamura N; Nakazawa A; Nasr S; Nicholson AG; Nicolae A; Ohgami RS; Oishi N; Olson TS; Ortonne N; Paiva B; Pan-Hammarstrom Q; Parihar M; Paulli M; Petersen A; Picarsic J; Pileri A; Pimpinelli N; Plaza JA; Rabin KR; Raderer M; Rai K; Randen U; Rao H; Robson A; Rochford R; Rosenquist R; Rossi D; Rossi ED; Rule S; Rymkiewicz G; Sabattini E; Saha V; Sakata-Yanagimoto M; Sander CA; Sangueza JM; Sangueza OP; Santucci M; Sato Y; Satou A; Schafernak KT; Schmitt F; Semenzato G; Sengar M; Shanafelt T; Shimada K; Slack GW; Slager S; Soffietti R; Solomon DA; Stamatopoulos K; Steidl C; Stilgenbauer S; Sukswai N; Takeuchi K; Tallini G; Tamaru J; Tan S-Y; Tembhare P; Tiacci E; Tokura Y; Tournilhac O; Treon S; Truemper L; Tsukasaki K; van Rhee F; Varghese A; Vermeer MH; Vielh P; Walker B; Wang M; Wang H-Y; Wang Z; Watanabe T; Weigert O; Wein-Stock D; Whittaker SJ; Willemze R; Woessmann W; Wu CJ; Yamaguchi M; Yamamoto H; Yamashita D; Yang S; Yang DT; Yasuda T; Yin W-H; Zen Y; Zhao S; Zhao W-L
• Article: JOURNAL OF IMMUNOLOGY. 2023;211(5):743-754

  N-Glycosylation of the Ig Receptors Shapes the Antigen Reactivity in Chronic Lymphocytic Leukemia Subset #201

  Iatrou A; Gounari M; Sofou E; Zaragoza-Infante L; Markopoulos I; Sarrigeorgiou I; Petrakis G; Pechlivanis N; Roumeliotou-Dimou M; Panayiotidis P; Stamatopoulos B; Gkanidou M; Sandaltzopoulos R; Degano M; Koletsa T; Lymberi P; Psomopoulos F; Ghia P; Agathangelidis A; Chatzidimitriou A; Stamatopoulos K
• Article: CYTOTHERAPY. 2023;25(9):956-966

  Lysis and phenotypic modulation of mesenchymal stromal cells upon blood contact triggers anti-inflammatory skewing of the peripheral innate immune repertoire

  Davies LC; Queckborner S; Jylha CE; Andren AT; Forshell TZP; Le Blanc K
• Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2023;96:321

  Progressively impaired prepubertal growth in children with APECED

  Saari V; Alanko V; Holopainen E; Makitie O; Laakso S
• Article: CELLULAR AND MOLECULAR LIFE SCIENCES. 2023;80(9):268

  Analysis of local extracellular matrix identifies different aetiologies behind bicuspid and tricuspid aortic valve degeneration and suggests therapies

  Beusch CM; Simonson OE; Wedin JO; Sabatier P; Felldin U; Kadekar S; Osterholm C; Vegvari A; Zubarev RA; Fromell K; Nilson B; James S; Stahle E; Grinnemo K-H; Rodin S
• Corrigendum: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2023;108(9):e905

  Correction to "High-Dose Vitamin D Intervention in Infants-Effects on Vitamin D Status, Calcium Homeostasis, and Bone Strength".
• Article: FRONTIERS IN ONCOLOGY. 2023;13:1217712

  Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

  Rezayee F; Eisfeldt J; Skaftason A; Ofverholm I; Sayyab S; Syvanen AC; Maqbool K; Lilljebjorn H; Johansson B; Olsson-Arvidsson L; Pietras CO; Staffas A; Palmqvist L; Fioretos T; Cavelier L; Fogelstrand L; Nordlund J; Wirta V; Rosenquist R; Barbany G
• Article: BMC CANCER. 2023;23(1):738

  Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

  Ofverholm A; Toerngren T; Rosen A; Arver B; Einbeigi Z; Haraldsson K; Stahlbom AK; Kuchinskaya E; Lindblom A; Melin B; Paulsson-Karlsson Y; Stenmark-Askmalm M; Tham E; von Wachenfeldt A; Kvist A; Borg A; Ehrencrona H
• Editorial: FRONTIERS IN ONCOLOGY. 2023;13:1252189

  Editorial: The promise of immunogenetics for precision oncology

  Vlachonikola E; Langerak AW; Rosenquist R; Chatzidimitriou A
• Article: CANCER MEDICINE. 2023;12(15):16142-16162

  Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

  Morra A; Schreurs MAC; Andrulis IL; Anton-Culver H; Augustinsson A; Beckmann MW; Behrens S; Bojesen SE; Bolla MK; Brauch H; Broeks A; Buys SS; Camp NJ; Castelao JE; Cessna MH; Chang-Claude J; Chung WK; Colonna SV; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Dennis J; Devilee P; Doerk T; Dunning AM; Dwek M; Easton DF; Eccles DM; Eriksson M; Evans DG; Fasching PA; Fehm TN; Figueroa JD; Flyger H; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Genkinger JA; Grassmann F; Guendert M; Hahnen E; Haiman C; Hamann U; Harrington PA; Hartikainen JM; Hoppe R; Hopper JL; Houlston RS; Howell A; Jakubowska A; Janni W; Jernstroem H; John EM; Johnson N; Jones ME; Kristensen VN; Kurian AW; Lambrechts D; Le Marchand L; Lindblom A; Lubinski J; Lux MP; Mannermaa A; Mavroudis D; Mulligan AM; Muranen TA; Nevanlinna H; Nevelsteen I; Neven P; Newman WG; Obi N; Offit K; Olshan AF; Park-Simon T-W; Patel AV; Peterlongo P; Phillips K-A; Plaseska-Karanfilska D; Polley EC; Presneau N; Pylkas K; Rack B; Radice P; Rashid MU; Rhenius V; Robson M; Romero A; Saloustros E; Sawyer EJ; Schmutzler RK; Schuetze S; Scott C; Shah MT; Smichkoska S; Southey MC; Tapper WJ; Teras LR; Tollenaar RAEM; Tomczyk K; Tomlinson I; Troester M; Vachon C; van Veen E; Wang Q; Wendt C; Wildiers H; Winqvist RA; Ziogas A; Hall P; Pharoah PDP; Adank M; Hollestelle A; Schmidt MK; Hooning MJ
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(8):104805

  Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe-A multi-professional survey study

  Koido K; Malmgren CI; Pojskic L; Almos PZ; Bergen SE; Borg I; Bozina N; Coviello DA; Degenhardt F; Ganoci L; Jensen UB; Durand-Lennad L; Laurent-Levinson C; McQuillin A; Navickas A; Pace NP; Paneque M; Rietschel M; Grigoroiu-Serbanescu M; Soller MJ; Suvisaari J; Utkus A; Van Assche E; Vissouze L; Zuckerman S; Chaumette B; Tammimies K
• Article: PLOS ONE. 2023;18(7):e0289346

  Transposable element insertions in 1000 Swedish individuals

  Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
• Article: INTERNATIONAL JOURNAL OF COLORECTAL DISEASE. 2023;38(1):197

  The prognostic significance of microsatellite instability in colorectal cancer: a Swedish multi-center study

  Rantanen P; Keranen A; Barot S; Ghazi S; Liljegren A; Nordenvall C; Lindblom A; Lindforss U
• Article: JOURNAL OF CLINICAL INVESTIGATION. 2023;133(13):e166070

  Tumor-activated lymph node fibroblasts suppress T cell function in diffuse large B cell lymphoma

  Apollonio B; Spada F; Petrov N; Cozzetto D; Papazoglou D; Jarvis P; Kannambath S; Terranova-Barberio M; Amini R-M; Enblad G; Graham C; Benjamin R; Phillips E; Ellis R; Nuamah R; Saqi M; Calado DP; Rosenquist R; Sutton LA; Salisbury J; Zacharioudakis G; Vardi A; Hagner PR; Gandhi AK; Bacac M; Claus C; Umana P; Jarrett RF; Klein C; Deutsch A; Ramsay AG
• Article: CURRENT RESEARCH IN TRANSLATIONAL MEDICINE. 2023;71(3):103401

  Establishment and characterization of a novel breast implant-associated anaplastic large cell lymphoma cell line and PDX model (BIA-XR1) with a unique KRAS mutation

  Xagoraris I; Stathopoulou K; Aulerio RD; He M; Ketscher A; Jatta K; de Flon FH; Barbany G; Rosenquist R; Westerberg LS; Rassidakis GZ
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934

  Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63

  Pacheco NP; Pettersson M; Lindstrand A; Grigelioniene G
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2023;202(2):384-392

  The prognostic impact of IKZF1 deletions and UKALL genetic classifiers in paediatric B-cell precursor acute lymphoblastic leukaemia treated according to NOPHO 2008 protocols

  Ofverholm I; Rezayee F; Heyman M; Harila A; Arvidsson L; Schmiegelow K; Noren-Nystrom U; Barbany G
• Article: BRITISH JOURNAL OF CANCER. 2023;128(12):2283-2294

  Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

  O'Mahony DG; Ramus SJ; Southey MC; Meagher NS; Hadjisavvas A; John EM; Hamann U; Imyanitov EN; Andrulis IL; Sharma P; Daly MB; Hake CR; Weitzel JN; Jakubowska A; Godwin AK; Arason A; Bane A; Simard J; Soucy P; Caligo MA; Mai PL; Claes KBM; Teixeira MR; Chung WK; Lazaro C; Hulick PJ; Toland AE; Pedersen IS; Neuhausen SL; Vega A; de la Hoya M; Nevanlinna H; Dhawan M; Zampiga V; Danesi R; Varesco L; Gismondi V; Vellone VG; James PA; Janavicius R; Nikitina-Zake L; Nielsen FC; van Overeem Hansen T; Pejovic T; Borg A; Rantala J; Offit K; Montagna M; Nathanson KL; Domchek SM; Osorio A; Garcia MJ; Karlan BY; De Fazio A; Bowtell D; McGuffog L; Leslie G; Parsons MT; Doerk T; Speith L-M; dos Santos ES; da Costa AABA; Radice P; Peterlongo P; Papi L; Engel C; Hahnen E; Schmutzler RK; Wappenschmidt B; Easton DF; Tischkowitz M; Singer CF; Tan YY; Whittemore AS; Sieh W; Brenton JD; Yannoukakos D; Fostira F; Konstantopoulou I; Soukupova J; Vocka M; Chenevix-Trench G; Pharoah PDP; Antoniou AC; Goldgar DE; Spurdle AB; Michailidou K; Mourits MJE; Lesueur F
• Article: BLOOD ADVANCES. 2023;7(12):2794-2806

  BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib

  Bonfiglio S; Sutton L-A; Ljungstrom V; Capasso A; Pandzic T; Westrom S; Foroughi-Asl H; Skaftason A; Gellerbring A; Lyander A; Gandini F; Gaidano G; Trentin L; Bonello L; Reda G; Bodor C; Stavroyianni N; Tam CS; Marasca R; Forconi F; Panayiotidis P; Ringshausen I; Jaksic O; Frustaci AM; Iyengar S; Coscia M; Mulligan SP; Ysebaert L; Strugov V; Pavlovsky C; Walewska R; Osterborg A; Cortese D; Ranghetti P; Baliakas P; Stamatopoulos K; Scarfo L; Rosenquist R; Ghia P
• Article: FRONTIERS IN GENETICS. 2023;14:1174046

  Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

  Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G
• Article: CANCERS. 2023;15(13):3313

  Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

  Figlioli G; Billaud A; Wang Q; Bolla MK; Dennis J; Lush M; Kvist A; Adank MA; Ahearn TU; Antonenkova NN; Auvinen P; Behrens S; Bermisheva M; Bogdanova NV; Bojesen SE; Bonanni B; Bruening T; Camp NJ; Campbell A; Castelao JE; Cessna MH; Czene K; Devilee P; Doerk T; Eriksson M; Fasching PA; Flyger H; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Glendon G; Garcia EG; Gonzalez-Neira A; Grassmann F; Guenel P; Hahnen E; Hamann U; Hillemanns P; Hooning MJ; Hoppe R; Howell A; Humphreys K; Jakubowska A; Khusnutdinova EK; Kristensen VN; Lindblom A; Loizidou MA; Lubinski J; Mannermaa A; Maurer T; Mavroudis D; Newman WG; Obi N; Panayiotidis MI; Radice P; Rashid MU; Rhenius V; Ruebner M; Saloustros E; Sawyer EJ; Schmidt MK; Schmutzler RK; Shah MT; Southey MC; Tomlinson I; Truong T; van Veen EM; Wendt C; Yang XR; Michailidou K; Dunning AM; Pharoah PDP; Easton DF; Andrulis IL; Evans DG; Hollestelle A; Chang-Claude J; Milne RL; Peterlongo P
• Preprint: MEDRXIV. 2023;MEDRXIV

  Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

  Kentistou KA; Kaisinger LR; Stankovic S; Vaudel M; de Oliveira EM; Messina A; Walters RG; Liu X; Busch AS; Helgason H; Thompson DJ; Santon F; Petricek KM; Zouaghi Y; Huang-Doran I; Gudbjartsson DF; Bratland E; Lin K; Gardner EJ; Zhao Y; Jia R; Terao C; Riggan M; Bolla MK; Yazdanpanah M; Yazdanpanah N; Bradfield JP; Broer L; Campbell A; Chasman DI; Cousminer DL; Franceschini N; Franke LH; Girotto G; He C; Järvelin M-R; Joshi PK; Kamatani Y; Karlsson R; Luan J; Lunetta KL; Mägi R; Mangino M; Medland SE; Meisinger C; Noordam R; Nutile T; Concas MP; Polašek O; Porcu E; Ring SM; Sala C; Smith AV; Tanaka T; van der Most PJ; Vitart V; Wang CA; Willemsen G; Zygmunt M; Ahearn TU; Andrulis IL; Anton-Culver H; Antoniou AC; Auer PL; Barnes CL; Beckmann MW; Berrington A; Bogdanova NV; Bojesen SE; Brenner H; Buring JE; Canzian F; Chang-Claude J; Couch FJ; Cox A; Crisponi L; Czene K; Daly MB; Demerath EW; Dennis J; Devilee P; Vivo ID; Dörk T; Dunning AM; Dwek M; Eriksson JG; Fasching PA; Fernandez-Rhodes L; Ferreli L; Fletcher O; Gago-Dominguez M; García-Closas M; García-Sáenz JA; González-Neira A; Grallert H; Guénel P; Haiman CA; Hall P; Hamann U; Hakonarson H; Hart RJ; Hickey M; Hooning MJ; Hoppe R; Hopper JL; Hottenga J-J; Hu FB; Hübner H; Hunter DJ; ABCTB Investigators; Jernström H; John EM; Karasik D; Khusnutdinova EK; Kristensen VN; Lacey JV; Lambrechts D; Launer LJ; Lind PA; Lindblom A; Magnusson PK; Mannermaa A; McCarthy MI; Meitinger T; Menni C; Michailidou K; Millwood IY; Milne RL; Montgomery GW; Nevanlinna H; Nolte IM; Nyholt DR; Obi N; O'Brien KM; Offit K; Oldehinkel AJ; Ostrowski SR; Palotie A; Pedersen OB; Peters A; Pianigiani G; Plaseska-Karanfilska D; Pouta A; Pozarickij A; Radice P; Rennert G; Rosendaal FR; Ruggiero D; Saloustros E; Sandler DP; Schipf S; Schmidt CO; Schmidt MK; Small K; Spedicati B; Stampfer M; Stone J; Tamimi RM; Teras LR; Tikkanen E; Turman C; Vachon CM; Wang Q; Winqvist R; Wolk A; Zemel BS; Zheng W; van Dijk KW; Alizadeh BZ; Bandinelli S; Boerwinkle E; Boomsma DI; Ciullo M; Chenevix-Trench G; Cucca F; Esko T; Gieger C; Grant SF; Gudnason V; Hayward C; Kolčić I; Kraft P; Lawlor DA; Martin NG; Nøhr EA; Pedersen NL; Pennell CE; Ridker PM; Robino A; Snieder H; Sovio U; Spector TD; Stöckl D; Sudlow C; Timpson NJ; Toniolo D; Uitterlinden A; Ulivi S; Völzke H; Wareham NJ; Widen E; Wilson JF; Lifelines Cohort Study; Danish Blood Donor study; Ovarian Cancer Association Consortium; Breast Cancer Association Consortium; Biobank Japan Project; China Kadoorie Biobank Collaborative Group; Pharoah PD; Li L; Easton DF; Njølstad P; Sulem P; Murabito JM; Murray A; Manousaki D; Juul A; Erikstrup C; Stefansson K; Horikoshi M; Chen Z; Farooqi IS; Pitteloud N; Johansson S; Day FR; Perry JR; Ong KK
• Article: BREAST CANCER RESEARCH. 2023;25(1):72

  Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

  Kast KM; John EL; Hopper J; Andrieu N; Nogues C; Mouret-Fourme E; Lasset C; Fricker J-P; Berthet P; Mari V; Salle LK; Schmidt M; Ausems MGEM; Garcia EBG; van de Beek IR; Wevers M; Evans DG; Tischkowitz M; Lalloo F; Cook J; Izatt L; Tripathi V; Snape K; Musgrave H; Sharif S; Murray JV; Colonna SV; Andrulis IL; Daly MB; Southey MC; de la Hoya M; Osorio A; Foretova L; Berkova D; Gerdes A-M; Olah E; Jakubowska A; Singer CF; Tan Y; Augustinsson A; Rantala J; Simard J; Schmutzler RK; Milne RL; Phillips K-A; Terry MB; Goldgar D; van Leeuwen FE; Mooij TM; Antoniou AC; Easton DF; Rookus MA; Engel C
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):147

  Oral findings in patients with cartilage-hair hypoplasia-cross-sectional observational study

  Arponen H; Vakkilainen S; Rautava J; Maekitie O
• Article: BLOOD. 2023;141(23):2853-2866

  The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

  Hakkarainen M; Kaaja I; Douglas SPM; Vulliamy T; Dokal I; Soulier J; Larcher L; de Latour RP; Leblanc T; de Fontbrune FS; Siitonen T; Lohi O; Hellstrom-Lindberg E; Barbany G; Tesi B; Shimamura A; Beier F; Jackson S; Kuperman AA; Zaccai TF; Tamary H; Mecucci C; Capolsini I; Jahnukainen K; Salmenniemi U; Niinimaki R; Varilo T; Kilpivaara O; Wartiovaara-Kautto U
• Letter: ACTA ONCOLOGICA. 2023;62(6):560-564

  The BioLymph study - implementing precision medicine approaches in lymphoma diagnostics, treatment and follow-up: feasibility and first results

  Smedby KE; Waesterlid T; Tham E; Haider Z; Joelsson J; Thorvaldsdottir B; Krstic A; Wahlin BE; Foroughi-Asl H; Karlsson C; Eloranta S; Saft L; Palma M; Kwiecinska A; Hansson L; Osterborg A; Wirta V; Rassidakis G; Sander B; Sonnevi K; Rosenquist R
• Article: FRONTIERS IN ONCOLOGY. 2023;13:1176698

  Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study

  Haider Z; Wasterlid T; Spangberg LD; Rabbani L; Jylha C; Thorvaldsdottir B; Skaftason A; Awier HN; Krstic A; Gellerbring A; Lyander A; Hagglund M; Jeggari A; Rassidakis G; Sonnevi K; Sander B; Rosenquist R; Tham E; Smedby KE
• Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039

  Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

  Wadensten E; Wessman S; Abel F; De Stahl TD; Tesi B; Pietras CO; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjo S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Bontell TO; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nister M; Mertens F; Sabel M; Noren-Nystrom U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D
• Article: CALCIFIED TISSUE INTERNATIONAL. 2023;112(6):675-682

  Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases

  Laakso S; Tong X; Blouin S; Keplinger P; Valimaki V-V; Kroger H; Makitie O; Hartmann MA
• Review: INTERNATIONAL JOURNAL OF CANCER. 2023;152(11):2232-2242

  The current status of cell-free human papillomavirus DNA as a biomarker in cervical cancer and other HPV-associated tumors: A review

  Sivars L; Palsdottir K; Guterstam YC; Falconer H; Hellman K; Tham E
• Journal article: JOURNAL OF CLINICAL ONCOLOGY. 2023;41(16_SUPPL):3609

  Combined associations of a healthy lifestyle and body mass index on colorectal cancer recurrence and survival: A cohort study.

  Barot S; Rantanen P; Nordenvall C; Lindforss U; Hallqvist Everhov A; Larsson S; Lindblom A; Liljegren A
• Conference publication: JOURNAL OF CLINICAL ONCOLOGY. 2023;41(16)

  Combined associations of a healthy lifestyle and body mass index on colorectal cancer recurrence and survival: A cohort study

  Barot S; Rantanen P; Nordenvall C; Lindforss U; Everhov AH; Larsson S; Lindblom A; Liljegren A
• Article: JOURNAL OF TRANSLATIONAL MEDICINE. 2023;21(1):342

  The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden

  de Stahl TD; Shamikh A; Mayrhofer M; Juhos S; Basmaci E; Prochazka G; Garcia M; Somarajan PR; Zielinska-Chomej K; Illies C; Ora I; Siesjo P; Sandstrom P-E; Stenman J; Sabel M; Gustavsson B; Kogner P; Pfeifer S; Ljungman G; Sandgren J; Nister M
• Article: FRONTIERS IN GENETICS. 2023;14:1192368

  Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants

  Enlund-Cerullo M; Holmlund-Suila E; Valkama S; Hauta-alus H; Rosendahl J; Andersson S; Pekkinen M; Makitie O
• Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005

  Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

  Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
• Article: NPJ BREAST CANCER. 2023;9(1):37

  PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

  Muranen T; Morra A; Khan SR; Barnes DK; Bolla M; Dennis J; Keeman R; Leslie GT; Parsons M; Wang QU; Ahearn T; Aittomaeki KL; Andrulis IK; Arun B; Behrens S; Bialkowska KE; Bojesen SJ; Camp N; Chang-Claude J; Czene K; Devilee PM; Domchek SM; Dunning A; Engel C; Evans DG; Gago-Dominguez M; Garcia-Closas M; Gerdes A-M; Glendon G; Guenel P; Hahnen E; Hamann U; Hanson HJ; Hooning M; Hoppe R; Izatt L; Jakubowska AA; James PN; Kristensen V; Lalloo FJ; Lindeman G; Mannermaa A; Margolin SL; Neuhausen SG; Newman W; Peterlongo P; Phillips K-A; Pujana MA; Rantala J; Ronlund K; Saloustros EK; Schmutzler R; Schneeweiss AF; Singer C; Suvanto M; Tan YYR; Teixeira M; Thomassen M; Tischkowitz M; Tripathi V; Wappenschmidt B; Zhao EF; Easton DC; Antoniou A; Chenevix-Trench G; Pharoah PDPK; Schmidt M; Blomqvist C; Nevanlinna H
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:395-396

  Inversion of LMX1B-a novel cause of nail-patella syndrome in a Swedish family

  Lindelof H; Horemuzova E; Nordgren A; Voss U; Hammarsjo A; Grigelioniene G
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:13

  Cancer risks by cancer type, gender and PTEN variant type in a large cohort of PTEN Hamartoma Tumour Syndrome patients

  Hendricks L; Hoogerbrugge N; Mensenkamp A; Brunet J; Lleuger-Pujol R; Vetti HH; Haavind MT; Innella G; Turchetti D; Aretz S; Spier I; Tischkowitz M; Jahn A; Links T; Olderode-Berends M; Blatnik A; Leter E; Evans DG; Woodward E; Steinke-Lange V; Anastasiadou VC; Colas C; Villy M-C; Benusiglio P; Gerasimenko A; Barili V; Brau-Chaud M; Houdayer C; Tesi B; Tham E; Schuurs-Hoeijmakers J; Vos J
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451

  Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

  Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444

  Parental mosaicism is underestimated in rare intellectual disability syndromes

  Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(5):1164-1209

  Nosology of genetic skeletal disorders: 2023 revision

  Unger S; Ferreira CR; Mortier GR; Ali H; Bertola DR; Calder A; Cohn DH; Cormier-Daire V; Girisha KM; Hall C; Krakow D; Makitie O; Mundlos S; Nishimura G; Robertson SP; Savarirayan R; Sillence D; Simon M; Sutton VR; Warman ML; Superti-Furga A
• Article: INTERNATIONAL JOURNAL OF CANCER. 2023;152(9):2002-2010

  Assessment of the EarlyCDT-Lung test as an early biomarker of lung cancer in ever-smokers: A retrospective nested case-control study in two prospective cohorts

  Wu WY-Y; Haider Z; Feng X; Heath AK; Tjonneland A; Agudo A; Masala G; Robbins HA; Huerta M-J; Guevara M; Schulze MB; Rodriguez-Barranco M; Vineis P; Tumino R; Kaaks R; Fortner RT; Sieri S; Panico S; Nost TH; Sandanger TM; Braaten T; Johansson M; Melin B; Johansson M
• Letter: HEMASPHERE. 2023;7(5):e883

  Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old With Acute Lymphoblastic Leukemia in the NOPHO ALL2008 Trial

  Noren-Nystrom U; Andersen MK; Barbany G; Dirse V; Eilert-Olsen M; Engvall M; Harila-Saari A; Heyman M; Hovland R; Haikio S; Jonsson JJ; Karhu R; Kjeldsen E; Norberg A; Preiss BS; Pulkkinen K; Quist-Paulsen P; Rasanen H; Schmiegelow K; Seitsonen A; Sjogren H; Tammur P; Johansson B
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31(5):578-587

  FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

  Figlioli G; Billaud A; Ahearn TU; Antonenkova NN; Becher H; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Blok MJ; Bogdanova NV; Bonanni B; Burwinkel B; Camp NJ; Campbell A; Castelao JE; Cessna MH; Chanock SJ; Czene K; Devilee P; Doerk T; Engel C; Eriksson M; Fasching PA; Figueroa JD; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Gonzalez-Neira A; Grassmann F; Guenel P; Guendert M; Hadjisavvas A; Hahnen E; Hall P; Hamann U; Harrington PA; He W; Hillemanns P; Hollestelle A; Hooning MJ; Hoppe R; Howell A; Humphreys K; Jager A; Jakubowska A; Khusnutdinova EK; Ko Y-D; Kristensen VN; Lindblom A; Lissowska J; Lubinski J; Mannermaa A; Manoukian S; Margolin S; Mavroudis D; Newman WG; Obi N; Panayiotidis MI; Rashid MU; Rhenius V; Rookus MA; Saloustros E; Sawyer EJ; Schmutzler RK; Shah M; Sironen R; Southey MC; Suvanto M; Tollenaar RAEM; Tomlinson I; Truong T; van der Kolk LE; van Veen EM; Wappenschmidt B; Yang XR; Bolla MK; Dennis J; Dunning AM; Easton DF; Lush M; Michailidou K; Pharoah PDP; Wang Q; Adank MA; Schmidt MK; Andrulis IL; Chang-Claude J; Nevanlinna H; Chenevix-Trench G; Evans DG; Milne RL; Radice P; Peterlongo P
• Article: JAMA NETWORK OPEN. 2023;6(5):e2314319

  Effect of Vitamin D₃ Supplementation in the First 2 Years of Life on Psychiatric Symptoms at Ages 6 to 8 Years: A Randomized Clinical Trial

  Sandboge S; Raikkonen K; Lahti-Pulkkinen M; Hauta-alus H; Holmlund-Suila E; Girchenko P; Kajantie E; Makitie O; Andersson S; Heinonen K
• Article: RADIOGRAPHICS. 2023;43(5):e220067

  Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis

  Handa A; Grigelioniene G; Nishimura G
• Article: SCIENTIFIC REPORTS. 2023;13(1):6904

  The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

  Runheim H; Pettersson M; Hammarsjo A; Nordgren A; Henriksson M; Lindstrand A; Levin L-A; Soller MJ
• Article: SCIENCE ADVANCES. 2023;9(16):eadf2687

  CBP and Gcn5 drive zygotic genome activation independently of their catalytic activity

  Ciabrelli F; Rabbani L; Cardamone F; Zenk F; Loeser E; Schaechtle MA; Mazina M; Loubiere V; Iovino N
• Article: JOURNAL OF THE AMERICAN HEART ASSOCIATION. 2023;12(8):e029248

  Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm

  Vats S; Sundquist K; Li Y; Wang X; Hong M-G; Sundquist J; Zarrouk M; Gottsater A; Memon AA
• Article: BMC GENOMICS. 2023;24(1):205

  T-RHEX-RNAseq - a tagmentation-based, rRNA blocked, random hexamer primed RNAseq method for generating stranded RNAseq libraries directly from very low numbers of lysed cells

  Gustafsson C; Hauenstein J; Frengen N; Krstic A; Luc S; Mansson R
• Review: FRONTIERS IN ONCOLOGY. 2023;13:1143811

  Recent revelations and future directions using single-cell technologies in chronic lymphocytic leukemia

  Oder B; Chatzidimitriou A; Langerak AW; Rosenquist R; Osterholm C
• Article: GENES. 2023;14(4):869

  Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

  Ahmad S; Ali MZ; Muzammal M; Khan AU; Ikram M; Muurinen M; Hussain S; Loid P; Khan MA; Makitie O
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2023;188(4):K17-K23

  Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study

  Traskila E; Holopainen E; Mayranpaa MI; Toppari J; Makitie O; Laakso S
• Article: LAKARTIDNINGEN. 2023;120:22139

  Precisionsmedicin kräver samverkan och långsiktighet.

  Edsjö A; Fioretos T; Rosenquist R
• Article: EUROPEAN CHILD & ADOLESCENT PSYCHIATRY. 2023;32(4):601-609

  Prenatal maternal and cord blood vitamin D concentrations and negative affectivity in infancy

  Sammallahti S; Holmlund-Suila E; Zou R; Valkama S; Rosendahl J; Enlund-Cerullo M; Hauta-Alus H; Lahti-Pulkkinen M; El Marroun H; Tiemeier H; Makitie O; Andersson S; Raikkonen K; Heinonen K
• Article: ECLINICALMEDICINE. 2023;58:101909

  Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

  Dominguez-Valentin M; Haupt S; Seppala TT; Sampson JR; Sunde L; Bernstein I; Jenkins MA; Engel C; Aretz S; Nielsen M; Capella G; Balaguer F; Evans DG; Burn J; Holinski-Feder E; Bertario L; Bonanni B; Lindblom A; Levi Z; Macrae F; Winship I; Plazzer J-P; Sijmons R; Laghi L; Della Valle A; Heinimann K; Debniak T; Fruscio R; Lopez-Koestner F; Alvarez-Valenzuela K; Katz LH; Laish I; Vainer E; Vaccaro C; Carraro DM; Monahan K; Half E; Stakelum A; Winter D; Kennelly R; Gluck N; Sheth H; Abu-Freha N; Greenblatt M; Rossi BM; Bohorquez M; Cavestro GM; Lino-Silva LS; Horisberger K; Tibiletti MG; do Nascimento I; Thomas H; Rossi NT; da Silva LA; Zarand A; Ruiz-Banobre J; Heuveline V; Mecklin J-P; Pylvaenaeinen K; Renkonen-Sinisalo L; Lepistoe A; Peltomaeki P; Therkildsen C; Madsen MG; Burgdorf SK; Hopper JL; Win AK; Haile RW; Lindor N; Gallinger S; Le Marchand L; Newcomb PA; Figueiredo J; Buchanan DD; Thibodeau SN; Doeberitz MVK; Loeffler M; Rahner N; Schroeck E; Steinke-Lange V; Schmiegel W; Vangala D; Perne C; Hueneburg R; Redler S; Buettner R; Weitz J; Pineda M; Duenas N; Vidal JB; Moreira L; Sanchez A; Hovig E; Nakken S; Green K; Lalloo F; Hill J; Crosbie E; Mints M; Goldberg Y; Tjandra D; ten Broeke SW; Kariv R; Rosner G; Advani SH; Thomas L; Shah P; Shah M; Neffa F; Esperon P; Pavicic W; Torrezan GT; Bassaneze T; Martin CA; Moslein G; Moller P
• Article: MICROBIOME. 2023;11(1):67

  Distinct cervical tissue-adherent and luminal microbiome communities correlate with mucosal host gene expression and protein levels in Kenyan sex workers

  Edfeldt G; Kaldhusdal V; Czarnewski P; Bradley F; Bergstrom S; Lajoie J; Xu J; Manberg A; Kimani J; Oyugi J; Nilsson P; Tjernlund A; Fowke KR; Kwon DS; Broliden K
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S1 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S3 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S3 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Data from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Data from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S1 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S2 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S4 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S3 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S1 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S4 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S2 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Table S2 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S2 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S1 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Figure S3 from Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nistér M; Lindström MS; Hägerstrand D
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Supplementary Data from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Supplementary Data from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Data from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Supplementary Figure Legends from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Supplementary Figure Legends from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Other: AMERICAN ASSOCIATION FOR CANCER RESEARCH (AACR). 2023

  Data from A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjöberg E; Meyrath M; Milde L; Herrera M; Lövrot J; Hägerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Chevigné A; Augsten M; Östman A
• Preprint: MEDRXIV. 2023

  Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

  Krali O; Marincevic-Zuniga Y; Arvidsson G; Enblad AP; Lundmark A; Sayyab S; Zachariadis V; Heinäniemi M; Suhonen J; Oksa L; Vepsäläinen K; Öfverholm I; Barbany G; Nordgren A; Lilljebjörn H; Fioretos T; Madsen H; Marquart HV; Flaegstad T; Forestier E; Jónsson Ó; Kanerva J; Lohi O; Norén-Nyström U; Schmiegelow K; Harila A; Heyman M; Lönnerholm G; Syvänen A-C; Nordlund J
• Article: CANCERS. 2023;15(7):1972

  Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma

  Arthur C; Jylha C; de Stahl TD; Shamikh A; Sandgren J; Rosenquist R; Nordenskjold M; Harila A; Barbany G; Sandvik U; Tham E
• Review: FRONTIERS IN ONCOLOGY. 2023;13:1146486

  Precision diagnostics in chronic lymphocytic leukemia: Past, present and future

  Mollstedt J; Mansouri L; Rosenquist R
• Article: FRONTIERS IN ORAL HEALTH. 2023;4:1087761

  Dental health of patients with X-linked hypophosphatemia: A controlled study

  Larsson A; Regnstrand T; Skott P; Makitie O; Bjornsdottir S; Garming-Legert K
• Article: CANCER. 2023;129(6):946-955

  Whole-body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study

  Omran M; Johansson H; Lundgren C; Silander G; Stenmark-Askmalm M; Loman N; Baan A; Adra J; Kuchinskaya E; Blomqvist L; Tham E; Bajalica-Lagercrantz S; Brandberg Y
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2023;32(3):353-362

  Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort

  Su Y-R; Sakoda LC; Jeon J; Thomas M; Lin Y; Schneider JL; Udaltsova N; Lee JK; Lansdorp-Vogelaar I; Peterse EFP; Zauber AG; Zheng J; Zheng Y; Hauser E; Baron JA; Barry EL; Bishop DT; Brenner H; Buchanan DD; Burnett-Hartman A; Campbell PT; Casey G; Castellvi-Bel S; Chan AT; Chang-Claude J; Figueiredo JC; Gallinger SJ; Giles GG; Gruber SB; Gsur A; Gunter MJ; Hampe J; Hampel H; Harrison TA; Hoffmeister M; Hua X; Huyghe JR; Jenkins MA; Keku TO; Le Marchand L; Li L; Lindblom A; Moreno V; Newcomb PA; Pharoah PDP; Platz EA; Potter JD; Qu C; Rennert G; Schoen RE; Slattery ML; Song M; van Duijnhoven FJB; Van Guelpen B; Vodicka P; Wolk A; Woods MO; Wu AH; Hayes RB; Peters U; Corley DA; Hsu L
• Corrigendum: NATURE GENETICS. 2023;55(3):519-520

  Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

  Fernandez-Rozadilla C; Timofeeva M; Chen Z; Law P; Thomas M; Schmit S; Diez-Obrero V; Hsu L; Fernandez-Tajes J; Palles C; Sherwood K; Briggs S; Svinti V; Donnelly K; Farrington S; Blackmur J; Vaughan-Shaw P; Shu X-O; Long J; Cai Q; Guo X; Lu Y; Broderick P; Studd J; Huyghe J; Harrison T; Conti D; Dampier C; Devall M; Schumacher F; Melas M; Rennert G; Obon-Santacana M; Martin-Sanchez V; Moratalla-Navarro F; Oh JH; Kim J; Jee SH; Jung KJ; Kweon S-S; Shin M-H; Shin A; Ahn Y-O; Kim D-H; Oze I; Wen W; Matsuo K; Matsuda K; Tanikawa C; Ren Z; Gao Y-T; Jia W-H; Hopper J; Jenkins M; Win AK; Pai R; Figueiredo J; Haile R; Gallinger S; Woods M; Newcomb P; Duggan D; Cheadle J; Kaplan R; Maughan T; Kerr R; Kerr D; Kirac I; Bohm J; Mecklin L-P; Jousilahti P; Knekt P; Aaltonen L; Rissanen H; Pukkala E; Eriksson J; Cajuso T; Hanninen U; Kondelin J; Palin K; Tanskanen T; Renkonen-Sinisalo L; Zanke B; Mannisto S; Albanes D; Weinstein S; Ruiz-Narvaez E; Palmer J; Buchanan D; Platz E; Visvanathan K; Ulrich C; Siegel E; Brezina S; Gsur A; Campbell P; Chang-Claude J; Hoffmeister M; Brenner H; Slattery M; Potter J; Tsilidis K; Schulze M; Gunter M; Murphy N; Castells A; Castellvi-Bel S; Moreira L; Arndt V; Shcherbina A; Stern M; Pardamean B; Bishop T; Giles G; Southey M; Idos G; McDonnell K; Abu-Ful Z; Greenson J; Shulman K; Lejbkowicz F; Offit K; Su Y-R; Steinfelder R; Keku T; van Guelpen B; Hudson T; Hampel H; Pearlman R; Berndt S; Hayes R; Martinez ME; Thomas S; Corley D; Pharoah P; Larsson S; Yen Y; Lenz H-J; White E; Li L; Doheny K; Pugh E; Shelford T; Chan A; Cruz-Correa M; Lindblom A; Hunter D; Joshi A; Schafmayer C; Scacheri P; Kundaje A; Nickerson D; Schoen R; Hampe J; Stadler Z; Vodicka P; Vodickova L; Vymetalkova V; Papadopoulos N; Edlund C; Gauderman W; Thomas D; Shibata D; Toland A; Markowitz S; Kim A; Chanock S; van Duijnhoven F; Feskens E; Sakoda L; Gago-Dominguez M; Wolk A; Naccarati A; Pardini B; FitzGerald L; Lee SC; Ogino S; Bien S; Kooperberg C; Li C; Lin Y; Prentice R; Qu C; Bezieau S; Tangen C; Mardis E; Yamaji T; Sawada N; Iwasaki M; Haiman C; Le Marchand L; Wu A; Qu C; McNeil C; Coetzee G; Hayward C; Deary I; Harris S; Theodoratou E; Reid S; Walker M; Ooi LY; Moreno V; Casey G; Gruber S; Tomlinson I; Zheng W; Dunlop M; Houlston R; Peters U
• Article: LEUKEMIA. 2023;37(3):550-559

  Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children

  Stratmann S; Vesterlund M; Umer HM; Eshtad S; Skaftason A; Herlin MK; Sundstrom C; Eriksson A; Hoglund M; Palle J; Abrahamsson J; Jahnukainen K; Munthe-Kaas MC; Zeller B; Tamm KP; Lindskog C; Cavelier L; Lehtio J; Holmfeldt L
• Article: EUROPEAN JOURNAL OF CANCER PREVENTION. 2023;32(2):113-118

  Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk

  Bryant P; Bernstedt SW; Thutkawkorapin J; Backman A-S; Lindblom A; Lagerstedt-Robinson K
• Journal article: ESMO OPEN. 2023;8(1):101095

  58P Evaluating the impact of WGTS in routine diagnostics of bone and soft tissue tumors

  Wallander KM; Öfverholm I; Yingbo L; Haglund C; Chellappa V; Tsagkozis P; Hesla A; Papakonstantinou A; Bränström R; Wirta V; Lindberg J; de Flon FH
• Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023;24(5):4468

  A Swedish Familial Genome-Wide Haplotype Analysis Identified Five Novel Breast Cancer Susceptibility Loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31

  Barnekow E; Hasslow J; Liu W; Bryant P; Thutkawkorapin J; Wendt C; Czene K; Hall P; Margolin S; Lindblom A
• Preprint: RES SQ. 2023;RES SQ

  Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

  Morra A; Schreurs MAC; Andrulis IL; Anton-Culver H; Augustinsson A; Beckmann MW; Behrens S; Bojesen SE; Bolla MK; Brauch H; Broeks A; Buys SS; Camp NJ; Castelao JE; Cessna MH; Chang-Claude J; Chung WK; Collaborators N; Colonna SV; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Dennis J; Devilee P; Dörk T; Dunning AM; Dwek M; Easton DF; Eccles DM; Eriksson M; Evans DG; Fasching PA; Fehm TN; Figueroa JD; Flyger H; Gabrielson M; Gago-Dominguez M; García-Closas M; García-Sáenz JA; Genkinger J; Grassmann F; Gündert M; Hahnen E; Haiman CA; Hamann U; Harrington PA; Hartikainen JM; Hoppe R; Hopper JL; Houlston RS; Howell A; Investigators A; Investigators K; Jakubowska A; Janni W; Jernström H; John EM; Johnson N; Jones ME; Kristensen VN; Kurian AW; Lambrechts D; Marchand LL; Lindblom A; Lubiński J; Lux MP; Mannermaa A; Mavroudis D; Mulligan AM; Muranen TA; Nevanlinna H; Nevelsteen I; Neven P; Newman WG; Obi N; Offit K; Olshan AF; Park-Simon T-W; Patel AV; Peterlongo P; Phillips K-A; Plaseska-Karanfilska D; Polley EC; Presneau N; Pylkäs K; Rack B; Radice P; Rashid MU; Rhenius V; Robson M; Romero A; Saloustros E; Sawyer EJ; Schmutzler RK; Schuetze S; Scott C; Shah M; Smichkoska S; Southey MC; Tapper WJ; Teras LR; Tollenaar RAEM; Tomczyk K; Tomlinson I; Troester MA; Vachon CM; van Veen EM; Wang Q; Wendt C; Wildiers H; Winqvist R; Ziogas A; Hall P; Pharoah PDP; Adank MA; Hollestelle A; Schmidt MK; Hooning MJ
• Article: CANCERS. 2023;15(4):1160

  Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

  Wallander K; Haider Z; Jeggari A; Foroughi-Asl H; Gellerbring A; Lyander A; Chozhan A; Gyllensten OC; Haegglund M; Wirta V; Nordenskjoeld M; Lindblad M; Tham E
• Article: FRONTIERS IN ONCOLOGY. 2023;13:1123029

  Differences in the immunoglobulin gene repertoires of IgG versus IgA multiple myeloma allude to distinct immunopathogenetic trajectories

  Gkoliou G; Agathangelidis A; Karakatsoulis G; Lalayanni C; Papalexandri A; Medina A; Genuardi E; Chlichlia K; Hatjiharissi E; Papaioannou M; Terpos E; Jimenez C; Sakellari I; Ferrero S; Ladetto M; Sanz RG; Belessi C; Stamatopoulos K
• Article: FRONTIERS IN ONCOLOGY. 2023;13:1097942

  T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations

  Vlachonikola E; Pechlivanis N; Karakatsoulis G; Sofou E; Gkoliou G; Jeromin S; Stavroyianni N; Ranghetti P; Scarfo L; Osterholm C; Mansouri L; Notopoulou S; Siorenta A; Anagnostopoulos A; Ghia P; Haferlach C; Rosenquist R; Psomopoulos F; Kouvatsi A; Baliakas P; Stamatopoulos K; Chatzidimitriou A
• Corrigendum: LEUKEMIA. 2023;37(2):504

  Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY (Dec, 10.1038/s41375-022-01802-y, 2022)

  Mansouri L; Thorvaldsdottir B; Sutton L-A; Karakatsoulis G; Meggendorfer M; Parker H; Nadeu F; Brieghel C; Laidou S; Moia R; Rossi D; Catherwood M; Kotaskova J; Delgado J; Rodriguez-Vicente AE; Benito R; Rigolin GM; Bonfiglio S; Scarfo L; Mattsson M; Davis Z; Gogia A; Rani L; Baliakas P; Foroughi-Asl H; Jylha C; Skaftason A; Rapado I; Miras F; Martinez-Lopez J; de la Serna J; Rivas JMH; Thornton P; Larrayoz MJ; Calasanz MJ; Fesus V; Matrai Z; Bodor C; Smedby KE; Espinet B; Puiggros A; Gupta R; Bullinger L; Bosch F; Tazon-Vega B; Baran-Marszak F; Oscier D; Nguyen-Khac F; Zenz T; Terol MJ; Cuneo A; Hernandez-Sanchez M; Pospisilova S; Mills K; Gaidano G; Niemann CU; Campo E; Strefford JC; Ghia P; Stamatopoulos K; Rosenquist R
• Article: LEUKEMIA. 2023;37(2):339-347

  Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

  Mansouri L; Thorvaldsdottir B; Sutton L-A; Karakatsoulis G; Meggendorfer M; Parker H; Nadeu F; Brieghel C; Laidou S; Moia R; Rossi D; Catherwood M; Kotaskova J; Delgado J; Rodriguez-Vicente AE; Benito R; Rigolin GM; Bonfiglio S; Scarfo L; Mattsson M; Davis Z; Gogia A; Rani L; Baliakas P; Foroughi-Asl H; Jylha C; Skaftason A; Rapado I; Miras F; Martinez-Lopez J; de la Serna J; Rivas JMH; Thornton P; Larrayoz MJ; Calasanz MJ; Fesus V; Matrai Z; Bodor C; Smedby KE; Espinet B; Puiggros A; Gupta R; Bullinger L; Bosch F; Tazon-Vega B; Baran-Marszak F; Oscier D; N'Guyen-Khac F; Zenz T; Terol MJ; Cuneo A; Hernandez-Sanchez M; Pospisilova S; Mills K; Gaidano G; Niemann CU; Campo E; Strefford JC; Ghia P; Stamatopoulos K; Rosenquist R
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2023;38:331-332

  Sgms2 Genes Are Essential for Normal Notochord and Craniofacial Element Formation and for Early Vertebral Element Mineralization in Zebrafish Larvae

  Maatta K; Pihlstrom S; Chen Y-C; Makitie R; Panula P; Makitie O; Pekkinen M
• Journal article: PATHOLOGY. 2023;55:s19-s20

  Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

  Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
• Article: NATURE COMMUNICATIONS. 2023;14(1):509

  Spatially resolved transcriptomic profiling of degraded and challenging fresh frozen samples

  Mirzazadeh R; Andrusivova Z; Larsson L; Newton PT; Galicia LA; Abalo XM; Avijgan M; Kvastad L; Denadai-Souza A; Stakenborg N; Firsova AB; Shamikh A; Jurek A; Schultz N; Nister M; Samakovlis C; Boeckxstaens G; Lundeberg J
• Preprint: MEDRXIV. 2023;MEDRXIV

  Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity.

  Thomas M; Su Y-R; Rosenthal EA; Sakoda LC; Schmit SL; Timofeeva MN; Chen Z; Fernandez-Rozadilla C; Law PJ; Murphy N; Carreras-Torres R; Diez-Obrero V; van Duijnhoven FJ; Jiang S; Shin A; Wolk A; Phipps AI; Burnett-Hartman A; Gsur A; Chan AT; Zauber AG; Wu AH; Lindblom A; Um CY; Tangen CM; Gignoux C; Newton C; Haiman CA; Qu C; Bishop DT; Buchanan DD; Crosslin DR; Conti DV; Kim D-H; Hauser E; White E; Siegel E; Schumacher FR; Rennert G; Giles GG; Hampel H; Brenner H; Oze I; Oh JH; Lee JK; Schneider JL; Chang-Claude J; Kim J; Huyghe JR; Zheng J; Hampe J; Greenson J; Hopper JL; Palmer JR; Visvanathan K; Matsuo K; Matsuda K; Jung KJ; Li L; Marchand LL; Vodickova L; Bujanda L; Gunter MJ; Matejcic M; Jenkins MA; Slattery ML; D'Amato M; Wang M; Hoffmeister M; Woods MO; Kim M; Song M; Iwasaki M; Du M; Udaltsova N; Sawada N; Vodicka P; Campbell PT; Newcomb PA; Cai Q; Pearlman R; Pai RK; Schoen RE; Steinfelder RS; Haile RW; Vandenputtelaar R; Prentice RL; Küry S; Castellví-Bel S; Tsugane S; Berndt SI; Lee SC; Brezina S; Weinstein SJ; Chanock SJ; Jee SH; Kweon S-S; Vadaparampil S; Harrison TA; Yamaji T; Keku TO; Vymetalkova V; Arndt V; Jia W-H; Shu X-O; Lin Y; Ahn Y-O; Stadler ZK; Van Guelpen B; Ulrich CM; Platz EA; Potter JD; Li CI; Meester R; Moreno V; Figueiredo JC; Casey G; Vogelaar IL; Dunlop MG; Gruber SB; Hayes RB; Pharoah PDP; Houlston RS; Jarvik GP; Tomlinson IP; Zheng W; Corley DA; Peters U; Hsu L
• Article: HGG ADVANCES. 2023;4(1):100148

  A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

  Young C; Batkovskyte D; Kitamura M; Shvedova M; Mihara Y; Akiba J; Zhou W; Hammarsjo A; Nishimura G; Yatsuga S; Grigelioniene G; Kobayashi T
• Article: FRONTIERS IN PEDIATRICS. 2023;10:1082986

  Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia

  Krstic A; Rezayee F; Saft L; Hammarsjoe A; Svenberg P; Barbany G
• Preprint: RESEARCH SQUARE. 2023

  The International X-Linked Hypophosphataemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

  Ariceta G; Beck-Nielsen SS; Boot AM; Brandi ML; Briot K; Collantes CDL; Emma F; Giannini S; Haffner D; Keen R; Levtchenko E; Mäkitie O; Mughal Z; Nilsson O; Schnabel D; Tripto-Shkolnik L; Liu J; Williams A; Wood S; Zillikens C
• Article: NATURE GENETICS. 2023;55(1):89-99

  Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

  Fernandez-Rozadilla C; Timofeeva M; Chen Z; Law P; Thomas M; Bien S; Diez-Obrero V; Li L; Fernandez-Tajes J; Palles C; Sherwood K; Harris S; Svinti V; McDonnell K; Farrington S; Studd J; Vaughan-Shaw P; Shu X-O; Long J; Cai Q; Guo X; Lu Y; Scacheri P; Studd J; Huyghe J; Harrison T; Shibata D; Haiman C; Devall M; Schumacher F; Melas M; Rennert G; Obon-Santacana M; Martin-Sanchez V; Moratalla-Navarro F; Oh JH; Kim J; Jee SH; Jung KJ; Kweon S-S; Shin M-H; Shin A; Ahn Y-O; Kim D-H; Oze I; Wen W; Matsuo K; Matsuda K; Tanikawa C; Ren Z; Gao Y-T; Jia W-H; Potter J; Jenkins M; Win AK; Pai R; Figueiredo J; Haile R; Gallinger S; Woods M; Newcomb P; Shibata D; Cheadle J; Kaplan R; Maughan T; Kerr R; Kerr D; Kirac I; Boehm J; Mecklin L-P; Jousilahti P; Knekt P; Aaltonen L; Rissanen H; Pukkala E; Eriksson J; Cajuso T; Hanninen U; Kondelin J; Palin K; Tanskanen T; Renkonen-Sinisalo L; Zanke B; Mannisto S; Albanes D; Weinstein S; Ruiz-Narvaez E; Palmer J; Buchanan D; Platz E; Visvanathan K; Ulrich C; Siegel E; Brezina S; Gsur A; Campbell P; Chang-Claude J; Hoffmeister M; Brenner H; Slattery M; Potter J; Tsilidis K; Schulze M; Gunter M; Murphy N; Castells A; Castellvi-Bel S; Moreira L; Arndt V; Shcherbina A; Stern M; Pardamean B; Bishop T; Giles G; Southey M; Idos G; McDonnell K; Abu-Ful Z; Greenson J; Shulman K; Lejbkowicz F; Offit K; Su Y-R; Steinfelder R; Keku T; van Guelpen B; Hudson T; Hampel H; Pearlman R; Berndt S; Hayes R; Martinez ME; Thomas S; Corley D; Pharoah P; Larsson S; Yen Y; Lenz H-J; White E; Li L; Doheny K; Pugh E; Shelford T; Chan A; Cruz-Correa M; Lindblom A; Shibata D; Joshi A; Schafmayer C; Scacheri P; Kundaje A; Nickerson D; Schoen R; Hampe J; Stadler Z; Vodicka P; Vodickova L; Vymetalkova V; Papadopoulos N; Edlund C; Gauderman W; Thomas D; Shibata D; Toland A; Markowitz S; Kim A; Gruber S; van Duijnhoven F; Feskens E; Sakoda L; Gago-Dominguez M; Wolk A; Naccarati A; Pardini B; FitzGerald L; Lee SC; Ogino S; Bien S; Kooperberg C; Li C; Lin Y; Prentice R; Qu C; Bezieau S; Tangen C; Mardis E; Yamaji T; Sawada N; Iwasaki M; Haiman C; Le Marchand L; Wu A; Qu C; McNeil C; Coetzee G; Hayward C; Deary I; Harris S; Theodoratou E; Reid S; Walker M; Ooi LY; Moreno V; Casey G; Gruber S; Tomlinson I; Zheng W; Dunlop M; Houlston R; Peters U
• Book chapter: GENETIC SYNDROMES. 2023;p. 1-4

  Cartilage-Hair Hypoplasia (CHH)

  Naz S; Makitie O
• Book chapter: GENETIC SYNDROMES. 2023;p. 1-4

  Acromesomelic Dysplasia I, Maroteaux Type (AMD1)

  Naz S; Makitie O
• Journal article: NATURE GENETICS. 2023;55(11):1820

  An atlas of genetic determinants of forearm fracture

  Nethander M; Moverare-Skrtic S; Kampe A; Coward E; Reimann E; Grahnemo L; Borbely E; Helyes Z; Funck-Brentano T; Cohen-Solal M; Tuukkanen J; Koskela A; Wu J; Li L; Lu T; Gabrielsen ME; Magi R; Hoff M; Lerner UH; Henning P; Ullum H; Erikstrup C; Brunak S; Langhammer A; Tuomi T; Oddsson A; Stefansson K; Pettersson-Kymmer U; Ostrowski SR; Pedersen OBV; Styrkarsdottir U; Makitie O; Hveem K; Richards JB; Ohlsson C
• Journal article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31(5):578-587

  FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

  Figlioli G; Billaud A; Ahearn TU; Antonenkova NN; Becher H; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Blok MJ; Bogdanova NV; Bonanni B; Burwinkel B; Camp NJ; Campbell A; Castelao JE; Cessna MH; Chanock SJ; Czene K; Devilee P; Doerk T; Engel C; Eriksson M; Fasching PA; Figueroa JD; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Gonzalez-Neira A; Grassmann F; Guenel P; Guendert M; Hadjisavvas A; Hahnen E; Hall P; Hamann U; Harrington PA; He W; Hillemanns P; Hollestelle A; Hooning MJ; Hoppe R; Howell A; Humphreys K; Jager A; Jakubowska A; Khusnutdinova EK; Ko Y-D; Kristensen VN; Lindblom A; Lissowska J; Lubinski J; Mannermaa A; Manoukian S; Margolin S; Mavroudis D; Newman WG; Obi N; Panayiotidis MI; Rashid MU; Rhenius V; Rookus MA; Saloustros E; Sawyer EJ; Schmutzler RK; Shah M; Sironen R; Southey MC; Suvanto M; Tollenaar RAEM; Tomlinson I; Truong T; van der Kolk LE; van Veen EM; Wappenschmidt B; Yang XR; Bolla MK; Dennis J; Dunning AM; Easton DF; Lush M; Michailidou K; Pharoah PDP; Wang Q; Adank MA; Schmidt MK; Andrulis IL; Chang-Claude J; Nevanlinna H; Chenevix-Trench G; Evans DG; Milne RL; Radice P; Peterlongo P
• Review: CAMBRIDGE PRISMS: PRECISION MEDICINE. 2023;1:e15

  Building a precision medicine infrastructure at a national level: The Swedish experience.

  Edsjö A; Lindstrand A; Gisselsson D; Mölling P; Friedman M; Cavelier L; Johansson M; Ehrencrona H; Fagerqvist T; Strid T; Lovmar L; Jacobsson B; Johansson Å; Engstrand L; Wheelock CE; Sikora P; Wirta V; Fioretos T; Rosenquist R; Genomic Medicine Sweden (GMS)
• Article: FRONTIERS IN ONCOLOGY. 2022;12:1079772

  Evidence of somatic hypermutation in the antigen binding sites of patients with CLL harboring IGHV genes with 100% germline identity

  Sofou E; Zaragoza-Infante L; Pechlivanis N; Karakatsoulis G; Notopoulou S; Stavroyianni N; Psomopoulos F; Georgiou E; de Septenville AL; Davi F; Agathangelidis A; Chatzidimitriou A; Stamatopoulos K
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2022;96(4):385-394

  Effects of a 2-year early childhood vitamin D3 intervention on tooth enamel and oral health at age 6-7 years

  Arponen H; Waltimo-Siren J; Hauta-Alus HH; Tuhkiainen M; Sorsa T; Tervahartiala T; Andersson S; Makitie O; Holmlund-Suila E
• Article: JCO PRECISION ONCOLOGY. 2022;6:e2200245

  Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.

  Cuppen E; Elemento O; Rosenquist R; Nikic S; IJzerman M; Zaleski ID; Frederix G; Levin L-Å; Mullighan CG; Buettner R; Pugh TJ; Grimmond S; Caldas C; Andre F; Custers I; Campo E; van Snellenberg H; Schuh A; Nakagawa H; von Kalle C; Haferlach T; Fröhling S; Jobanputra V
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(12):104632

  Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

  Hendricks LAJ; Hoogerbrugge N; Venselaar H; Aretz S; Spier I; Legius E; Brems H; de Putter R; Claes KBM; Evans G; Woodward ER; Genuardi M; Brugnoletti F; van Ierland Y; Dijke K; Tham E; Tesi B; Schuurs-Hoeijmakers JHM; Branchaud M; Salvador H; Jahn A; Schnaiter S; Anastasiadou VC; Brunet J; Oliveira C; Roht L; Blatnik A; Irmejs A; Mensenkamp AR; Vos JR
• Review: ANTIOXIDANTS & REDOX SIGNALING. 2022;37(16):1168-1190

  Mitochondrial DNA Copy Number: Linking Diabetes and Cancer

  Memon AAA; Vats S; Sundquist J; Li Y; Sundquist K
• Article: BLOOD. 2022;140(21):2193-2227

  Genomic profiling for clinical decision making in lymphoid neoplasms

  de Leval L; Alizadeh AA; Bergsagel PL; Campo E; Davies A; Dogan A; Fitzgibbon J; Horwitz SM; Melnick AM; Morice WG; Morin RD; Nadel B; Pileri SA; Rosenquist R; Rossi D; Salaverria I; Steidl C; Treon SP; Zelenetz AD; Advani RH; Allen CE; Ansell SM; Chan WC; Cook JR; Cook LB; D'Amore F; Dirnhofer S; Dreyling M; Dunleavy K; Feldman AL; Fend F; Gaulard P; Ghia P; Gribben JG; Hermine O; Hodson DJ; Hsi ED; Inghirami G; Jaffe ES; Karube K; Kataoka K; Klapper W; Kim WS; King RL; Ko YH; LaCasce AS; Lenz G; Martin-Subero JI; Piris MA; Pittaluga S; Pasqualucci L; Quintanilla-Martinez L; Rodig SJ; Rosenwald A; Salles GA; San-Miguel J; Savage KJ; Sehn LH; Semenzato G; Staudt LM; Swerdlow SH; Tam CS; Trotman J; Vose JM; Weigert O; Wilson WH; Winter JN; Wu CJ; Zinzani PL; Zucca E; Bagg A; Scott DW
• Corrigendum: BREAST CANCER RESEARCH. 2022;24(1):82

  PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ∼ 200,000 patients (vol 24, 69, 2022)

  Giardiello D; Hooning MJ; Hauptmann M; Keeman R; Heemskerk-Gerritsen BAM; Becher H; Blomqvist C; Bojesen SE; Bolla MK; Camp NJ; Czene K; Devilee P; Eccles DM; Fasching PA; Figueroa JD; Flyger H; Garcia-Closas M; Haiman CA; Hamann U; Hopper JL; Jakubowska A; Leeuwen FE; Lindblom A; Lubinski J; Margolin S; Martinez ME; Nevanlinna H; Nevelsteen I; Pelders S; Pharoah PDP; Siesling S; Southey MC; van der Hout AH; van Hest LP; Chang-Claude J; Hall P; Easton DF; Steyerberg EW; Schmidt MK
• Article: FRONTIERS IN MOLECULAR BIOSCIENCES. 2022;9:1032026

  A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells

  Pihlstrom S; Maatta K; Ohman T; Makitie RE; Aronen M; Varjosalo M; Makitie O; Pekkinen M
• Article: FRONTIERS IN ONCOLOGY. 2022;12:984021

  Data-driven support to decision-making in molecular tumour boards for lymphoma: A design science approach

  Ruiz NR; Abd Own S; Smedby KE; Eloranta S; Koch S; Wasterlid T; Krstic A; Boman M
• Article: PRENATAL DIAGNOSIS. 2022;42(12):1525-1537

  Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort

  Rajala K; Kasanen E; Toiviainen-Salo S; Valta H; Makitie O; Stefanovic V; Tanner L
• Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307

  Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

  Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
• Article: HUMAN MUTATION. 2022;43(11):1567-1575

  Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation

  Eisfeldt J; Rezayee F; Pettersson M; Lagerstedt K; Malmgren H; Falk A; Grigelioniene G; Lindstrand A
• Preprint: MEDRXIV. 2022

  Genetically-proxied anti-diabetic drug target perturbation and risk of cancer: a Mendelian randomization analysis

  Yarmolinsky J; Bouras E; Constantinescu A; Burrows K; Bull C; Vincent E; Martin R; Dimopoulou O; Lewis S; Moreno V; Vujkovic M; Chang K-M; Voight B; Tsao P; Gunter M; Hampe J; Lindblom A; Pellatt A; Pharoah P; Schoen R; Gallinger S; Jenkins M; Pai R; the PRACTICAL consortium; VA Million Veteran Program; Gill D; Tsilidis K
• Article: BREAST CANCER RESEARCH. 2022;24(1):69

  PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ∼200,000 patients

  Giardiello D; Hooning MJ; Hauptmann M; Keeman R; Heemskerk-Gerritsen BAM; Becher H; Blomqvist C; Bojesen SE; Bolla MK; Camp NJ; Czene K; Devilee P; Eccles DM; Fasching PA; Figueroa JD; Flyger H; Garcia-Closas M; Haiman CA; Hamann U; Hopper JL; Jakubowska A; Leeuwen FE; Lindblom A; Lubinski J; Margolin S; Martinez ME; Nevanlinna H; Nevelsteen I; Pelders S; Pharoah PDP; Siesling S; Southey MC; van der Hout AH; van Hest LP; Chang-Claude J; Hall P; Easton DF; Steyerberg EW; Schmidt MK
• Article: NATURE COMMUNICATIONS. 2022;13(1):6226

  Proteogenomics refines the molecular classification of chronic lymphocytic leukemia

  Herbst SA; Vesterlund M; Helmboldt AJ; Jafari R; Siavelis I; Stahl M; Schitter EC; Liebers N; Brinkmann BJ; Czernilofsky F; Roider T; Bruch P-M; Iskar M; Kittai A; Huang Y; Lu J; Richter S; Mermelekas G; Umer HM; Knoll M; Kolb C; Lenze A; Cao X; Osterholm C; Wahnschaffe L; Herling C; Scheinost S; Ganzinger M; Mansouri L; Kriegsmann K; Kriegsmann M; Anders S; Zapatka M; Del Poeta G; Zucchetto A; Bomben R; Gattei V; Dreger P; Woyach J; Herling M; Muller-Tidow C; Rosenquist R; Stilgenbauer S; Zenz T; Huber W; Tausch E; Lehtioe J; Dietrich S
• Article: COMMUNICATIONS BIOLOGY. 2022;5(1):1061

  Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

  Hakkaart C; Pearson JF; Marquart L; Dennis J; Wiggins GAR; Barnes DR; Robinson BA; Mace PD; Aittomaki K; Andrulis IL; Arun BK; Azzollini J; Balmana J; Barkardottir RB; Belhadj S; Berger L; Blok MJ; Boonen SE; Borde J; Bradbury AR; Brunet J; Buys SS; Caligo MA; Campbell I; Chung WK; Claes KBM; Collonge-Rame M-A; Cook J; Cosgrove C; Couch FJ; Daly MB; Dandiker S; Davidson R; de la Hoya M; de Putter R; Delnatte C; Dhawan M; Diez O; Ding YC; Domchek SM; Donaldson A; Eason J; Easton DF; Ehrencrona H; Engel C; Evans DG; Faust U; Feliubadalo L; Fostira F; Friedman E; Frone M; Frost D; Garber J; Gayther SA; Gehrig A; Gesta P; Godwin AK; Goldgar DE; Greene MH; Hahnen E; Hake CR; Hamann U; Hansen TVO; Hauke J; Hentschel J; Herold N; Honisch E; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Izquierdo A; Jakubowska A; James PA; Janavicius R; John EM; Joseph V; Karlan BY; Kemp Z; Kirk J; Konstantopoulou I; Koudijs M; Kwong A; Laitman Y; Lalloo F; Lasset C; Lautrup C; Lazaro C; Legrand C; Leslie G; Lesueur F; Mai PL; Manoukian S; Mari V; Martens JWM; McGuffog L; Mebirouk N; Meindl A; Miller A; Montagna M; Moserle L; Mouret-Fourme E; Musgrave H; Nambot S; Nathanson KL; Neuhausen SL; Nevanlinna H; Yie JNY; Nguyen-Dumont T; Nikitina-Zake L; Offit K; Olah E; Olopade OI; Osorio A; Ott C-E; Park SK; Parsons MT; Pedersen IS; Peixoto A; Perez-Segura P; Peterlongo P; Pocza T; Radice P; Ramser J; Rantala J; Rodriguez GC; Ronlund K; Rosenberg EH; Rossing M; Schmutzler RK; Shah PD; Sharif S; Sharma P; Side LE; Simard J; Singer CF; Snape K; Steinemann D; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teo SH; Thomassen M; Thull DL; Tischkowitz M; Toland AE; Trainer AH; Tripathi V; Tung N; van Engelen K; van Rensburg EJ; Vega A; Viel A; Walker L; Weitzel JN; Wevers MR; Chenevix-Trench G; Spurdle AB; Antoniou AC; Walker LC
• Review: BMC MEDICINE. 2022;20(1):353

  Changes in concentrations of cervicovaginal immune mediators across the menstrual cycle: a systematic review and meta-analysis of individual patient data

  Hughes SM; Levy CN; Katz R; Lokken EM; Anahtar MN; Hall MB; Bradley F; Castle PE; Cortez V; Doncel GF; Fichorova R; Fidel PLJ; Fowke KR; Francis SC; Ghosh M; Hwang LY; Jais M; Jespers V; Joag V; Kaul R; Kyongo J; Lahey T; Li H; Makinde J; McKinnon LR; Moscicki A-B; Novak RM; Patel MV; Sriprasert I; Thurman AR; Yegorov S; Mugo NR; Roxby AC; Micks E; Hladik F
• Article: FRONTIERS IN PEDIATRICS. 2022;10:969881

  Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

  Loid P; Lipsanen-Nyman M; Ala-Mello S; Hannula-Jouppi K; Kere J; Makitie O; Muurinen M
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2022;20(1):36

  Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

  Moller P; Seppala T; Dowty JG; Haupt S; Dominguez-Valentin M; Sunde L; Bernstein I; Engel C; Aretz S; Nielsen M; Capella G; Evans DG; Burn J; Holinski-Feder E; Bertario L; Bonanni B; Lindblom A; Levi Z; Macrae F; Winship I; Plazzer J-P; Sijmons R; Laghi L; Della Valle A; Heinimann K; Half E; Lopez-Koestner F; Alvarez-Valenzuela K; Scott RJ; Katz L; Laish I; Vainer E; Vaccaro CA; Carraro DM; Gluck N; Abu-Freha N; Stakelum A; Kennelly R; Winter D; Rossi BM; Greenblatt M; Bohorquez M; Sheth H; Tibiletti MG; Lino-Silva LS; Horisberger K; Portenkirchner C; Nascimento I; Rossi NT; da Silva LA; Thomas H; Zarand A; Mecklin J-P; Pylvanainen K; Renkonen-Sinisalo L; Lepisto A; Peltomaki P; Therkildsen C; Lindberg LJ; Thorlacius-Ussing O; von Knebel Doeberitz M; Loeffler M; Rahner N; Steinke-Lange V; Schmiegel W; Vangala D; Perne C; Hueneburg R; de Vargas AF; Latchford A; Gerdes A-M; Backman A-S; Guillen-Ponce C; Snyder C; Lautrup CK; Amor D; Palmero E; Stoffel E; Duijkers F; Hall MJ; Hampel H; Williams H; Okkels H; Lubinski J; Reece J; Ngeow J; Guillem JG; Arnold J; Wadt K; Monahan K; Senter L; Rasmussen LJ; van Hest LP; Ricciardiello L; Kohonen-Corish MRJ; Ligtenberg MJL; Southey M; Aronson M; Zahary MN; Samadder NJ; Poplawski N; Hoogerbrugge N; Morrison PJ; James P; Lee G; Chen-Shtoyerman R; Ankathil R; Pai R; Ward R; Parry S; Debniak T; John T; van Overeem Hansen T; Caldes T; Yamaguchi T; Barca-Tierno V; Garre P; Cavestro GM; Weitz J; Redler S; Buettner R; Heuveline V; Hopper JL; Win AK; Lindor N; Gallinger S; Le Marchand L; Newcomb PA; Figueiredo J; Buchanan DD; Thibodeau SN; ten Broeke SW; Hovig E; Nakken S; Pineda M; Duenas N; Brunet J; Green K; Lalloo F; Newton K; Crosbie EJ; Mints M; Tjandra D; Neffa F; Esperon P; Kariv R; Rosner G; Pavicic WH; Kalfayan P; Torrezan GT; Bassaneze T; Martin C; Moslein G; Ahadova A; Kloor M; Sampson JR; Jenkins MA
• Letter: NATURE MEDICINE. 2022;28(10):1980-1982

  Implementing precision medicine in a regionally organized healthcare system in Sweden

  Fioretos T; Wirta V; Cavelier L; Berglund E; Friedman M; Akhras M; Botling J; Ehrencrona H; Engstrand L; Helenius G; Fagerqvist T; Gisselsson D; Gruvberger-Saal S; Gyllensten U; Heidenblad M; Hoglund K; Jacobsson B; Johansson M; Johansson A; Soller MJ; Landstrom M; Larsson P; Levin L-A; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Molling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Soderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjo A; Rosenquist R
• Article: BRITISH JOURNAL OF SPORTS MEDICINE. 2022;56(20):1157-1170

  Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

  Dixon-Suen SC; Lewis SJ; Martin RM; English DR; Boyle T; Giles GG; Michailidou K; Bolla MK; Wang Q; Dennis J; Lush M; Ahearn TU; Ambrosone CB; Andrulis IL; Anton-Culver H; Arndt V; Aronson KJ; Augustinsson A; Auvinen P; Beane Freeman LE; Becher H; Beckmann MW; Behrens S; Bermisheva M; Blomqvist C; Bogdanova NV; Bojesen SE; Bonanni B; Brenner H; Bruening T; Buys SS; Camp NJ; Campa D; Canzian F; Castelao JE; Cessna MH; Chang-Claude J; Chanock SJ; Clarke CL; Conroy DM; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Doerk T; Dwek M; Eccles DM; Eliassen AH; Engel C; Eriksson M; Evans DG; Fasching PA; Fletcher O; Flyger H; Fritschi L; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Goldberg MS; Guenel P; Guendert M; Hahnen E; Haiman CA; Haeberle L; Hakansson N; Hall P; Hamann U; Hart SN; Harvie M; Hillemanns P; Hollestelle A; Hooning MJ; Hoppe R; Hopper J; Howell A; Hunter DJ; Jakubowska A; Janni W; John EM; Jung A; Kaaks R; Keeman R; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Kubelka-Sabit K; Kurian AW; Lacey JV; Lambrechts D; Le Marchand L; Lindblom A; Loibl S; Lubinski J; Mannermaa A; Manoochehri M; Margolin S; Martinez ME; Mavroudis D; Menon U; Mulligan AM; Murphy RA; Nevanlinna H; Nevelsteen I; Newman WG; Offit K; Olshan AF; Olsson H; Orr N; Patel A; Peto J; Plaseska-Karanfilska D; Presneau N; Rack B; Radice P; Rees-Punia E; Rennert G; Rennert HS; Romero A; Saloustros E; Sandler DP; Schmidt MK; Schmutzler RK; Schwentner L; Scott C; Shah M; Shu X-O; Simard J; Southey MC; Stone J; Surowy H; Swerdlow AJ; Tamimi RM; Tapper WJ; Taylor JA; Terry MB; Tollenaar RAEM; Troester MA; Truong T; Untch M; Vachon CM; Joseph V; Wappenschmidt B; Weinberg CR; Wolk A; Yannoukakos D; Zheng W; Ziogas A; Dunning AM; Pharoah PDP; Easton DF; Milne RL; Lynch BM
• Article: HEMASPHERE. 2022;6(10):e785

  Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia

  Pilheden M; Ahlgren L; Hyrenius-Wittsten A; Gonzalez-Pena V; Sturesson H; Marquart HVH; Lausen B; Castor A; Pronk CJ; Barbany G; Tamm KP; Fogelstrand L; Lohi O; Noren-Nystrom U; Asklin J; Chen Y; Song G; Walsh M; Ma J; Zhang J; Saal LH; Gawad C; Hagstrom-Andersson AK
• Article: GYNECOLOGIC ONCOLOGY. 2022;167(1):107-114

  Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer

  Sivars L; Hellman K; Guterstam YC; Holzhauser S; Nordenskjold M; Falconer H; Palsdottir K; Tham E
• Article: FRONTIERS IN IMMUNOLOGY. 2022;13:1004694

  Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form

  Kukkola H-L; Utriainen P; Huttunen P; Taskinen M; Maekitie O; Vakkilainen S
• Article: BRIEFINGS IN BIOINFORMATICS. 2022;23(5):bbac349

  IgIDivA: immunoglobulin intraclonal diversification analysis

  Zaragoza-Infante L; Junet V; Pechlivanis N; Fragkouli S-C; Amprachamian S; Koletsa T; Chatzidimitriou A; Papaioannou M; Stamatopoulos K; Agathangelidis A; Psomopoulos F
• Article: ELIFE. 2022;11:e79278

  Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

  Sokoya T; Parolek J; Foged MM; Danylchuk DI; Bozan M; Sarkar B; Hilderink A; Philippi M; Botto LD; Terhal PA; Makitie O; Piehler J; Kim Y; Burd CG; Klymchenko AS; Maeda K; Holthuis JCM
• Article: BLOOD ADVANCES. 2022;6(17):5009-5023

  Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

  Pena-Perez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Mansson R
• Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:954730

  Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis

  Loid P; Hauta-Alus H; Makitie O; Magnusson P; Makitie RE
• Review: SEMINARS IN CANCER BIOLOGY. 2022;84:16-22

  Analytical demands to use whole-genome sequencing in precision oncology

  Meggendorfer M; Jobanputra V; Wrzeszczynski KO; Roepman P; de Bruijn E; Cuppen E; Buttner R; Caldas C; Grimmond S; Mullighan CG; Elemento O; Rosenquist R; Schuh A; Haferlach T
• Article: PAEDIATRIC AND PERINATAL EPIDEMIOLOGY. 2022;36(5):665-672

  Bone mineral density in very low birthweight adults-A sibling study

  Sandboge S; Kuula J; Bjorkqvist J; Hovi P; Makitie O; Kajantie E
• Review: SEMINARS IN CANCER BIOLOGY. 2022;84:32-39

  Clinical utility of whole-genome sequencing in precision oncology

  Rosenquist R; Cuppen E; Buettner R; Caldas C; Dreau H; Elemento O; Frederix G; Grimmond S; Haferlach T; Jobanputra V; Meggendorfer M; Mullighan CG; Wordsworth S; Schuh A
• Editorial: SEMINARS IN CANCER BIOLOGY. 2022;84:1-2

  Precision medicine in cancer: A paradigm shift

  Rosenquist R; Frohling S; Stamatopoulos K
• Article: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254

  Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

  Stenzinger A; Edsjoe A; Ploeger C; Friedman M; Frohling S; Wirta V; Seufferlein T; Botling J; Duyster J; Akhras M; Thimme R; Fioretos T; Bitzer M; Cavelier L; Schirmacher P; Malek N; Rosenquist R
• Article: CANCER PREVENTION RESEARCH. 2022;15(9):623-634

  Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

  Mathers JC; Elliott F; Macrae F; Mecklin J-P; Moslein G; McRonald FE; Bertario L; Evans DG; Gerdes A-M; Ho JWC; Lindblom A; Morrison PJ; Rashbass J; Ramesar RS; Seppala TT; Thomas HJW; Sheth HJ; Pylvanainen K; Reed L; Borthwick GM; Bishop DT; Burn J
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2022;198(6):1023-1031

  The human cathelicidin hCAP-18 in serum of children with haemato-oncological diseases

  Jackmann N; Englund S; Frisk P; Makitie O; Utriainen P; Mortberg A; Henriques-Normark B; Putsep K; Harila-Saari A
• Article: SEMINARS IN CANCER BIOLOGY. 2022;84:170-183

  Precision diagnostics in lymphomas-Recent developments and future directions

  Mansouri L; Thorvaldsdottir B; Laidou S; Stamatopoulos K; Rosenquist R
• Article: BMC MUSCULOSKELETAL DISORDERS. 2022;23(1):818

  Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

  Kausar M; Ul Ain N; Hayat F; Fatima H; Azim S; Ullah H; Mushtaq M; Khalid S; Hussain S; Naz S; Janjua J; Bin Amjad S; Baig RM; Makitie O; Qamar R; Ikegawa S; Gen N; Khor CC; Foo JN; Siddiqi S
• Article: LEUKEMIA & LYMPHOMA. 2022;63(10):2311-2320

  Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium

  Engvall M; Karlsson Y; Kuchinskaya E; Jornegren A; Mathot L; Pandzic T; Palle J; Ljungstrom V; Cavelier L; Lindberg EH; Cammenga J; Baliakas P
• Article: NATURE. 2022;608(7922):360-367

  Spatially resolved clonal copy number alterations in benign and malignant tissue

  Erickson A; He M; Berglund E; Marklund M; Mirzazadeh R; Schultz N; Kvastad L; Andersson A; Bergenstrahle L; Bergenstrahle J; Larsson L; Galicia LA; Shamikh A; Basmaci E; De Stahl TD; Rajakumar T; Doultsinos D; Thrane K; Ji AL; Khavari PA; Tarish F; Tanoglidi A; Maaskola J; Colling R; Mirtti T; Hamdy FC; Woodcock DJ; Helleday T; Mills IG; Lamb AD; Lundeberg J
• Article: HEMASPHERE. 2022;6(8):e761

  Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting.

  Pandzic T; Ladenvall C; Engvall M; Mattsson M; Hermanson M; Cavelier L; Ljungström V; Baliakas P
• Article: JBMR PLUS. 2022;6(8):e10660

  Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

  Muurinen M; Taylan F; Tournis S; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Makitie O; Costantini A
• Review: JOURNAL OF INTERNAL MEDICINE. 2022;292(2):221-242

  Towards precision medicine in lymphoid malignancies

  Buhler MM; Martin-Subero JI; Pan-Hammarstrom Q; Campo E; Rosenquist R
• Review: LEUKEMIA. 2022;36(8):1961-1968

  Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: the 2022 update of the recommendations by ERIC, the European Research Initiative on CLL

  Agathangelidis A; Chatzidimitriou A; Chatzikonstantinou T; Tresoldi C; Davis Z; Giudicelli V; Kossida S; Belessi C; Rosenquist R; Ghia P; Langerak AW; Davi F; Stamatopoulos K
• Review: JOURNAL OF INTERNAL MEDICINE. 2022;292(2):243-261

  Application of precision medicine in clinical routine in haematology-Challenges and opportunities

  Wasterlid T; Cavelier L; Haferlach C; Konopleva M; Froehling S; Ostling P; Bullinger L; Fioretos T; Smedby KE
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2022;20(1):28

  Unravelling genetic variants of a swedish family with high risk of prostate cancer

  Barilla S; Lindblom A; Helgadottir HT
• Article: FRONTIERS IN ONCOLOGY. 2022;12:897280

  Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia

  Kaufman M; Yan X-J; Li W; Ghia EM; Langerak AW; Rassenti LZ; Belessi C; Kay NE; Davi F; Byrd JC; Pospisilova S; Brown JR; Catherwood M; Davis Z; Oscier D; Montillo M; Trentin L; Rosenquist R; Ghia P; Barrientos JC; Kolitz JE; Allen SL; Rai KR; Stamatopoulos K; Kipps TJ; Neuberg D; Chiorazzi N
• Article: NATURE COMMUNICATIONS. 2022;13(1):4033

  Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.

  Chen L; Eriksson A; Weström S; Pandzic T; Lehmann S; Cavelier L; Landegren U
• Article: FRONTIERS IN ONCOLOGY. 2022;12:899325

  Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

  Arthur C; Rezayee F; Mogensen N; Saft L; Rosenquist R; Nordenskjold M; Harila-Saari A; Tham E; Barbany G
• Article: LEUKEMIA. 2022;36(7):1834-1842

  Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study

  White HE; Salmon M; Albano F; Andersen CSA; Balabanov S; Balatzenko G; Barbany G; Cayuela J-M; Cerveira N; Cochaux P; Colomer D; Coriu D; Diamond J; Dietz C; Dulucq S; Engvall M; Franke GN; Gineikiene-Valentine E; Gniot M; Gomez-Casares MT; Gottardi E; Hayden C; Hayette S; Hedblom A; Ilea A; Izzo B; Jimenez-Velasco A; Jurcek T; Kairisto V; Langabeer SE; Lion T; Meggyesi N; Mesanovic S; Mihok L; Mitterbauer-Hohendanner G; Moeckel S; Naumann N; Nibourel O; Oppliger Leibundgut E; Panayiotidis P; Podgornik H; Pott C; Rapado I; Rose SJ; Schaefer V; Touloumenidou T; Veigaard C; Venniker-Punt B; Venturi C; Vigneri P; Vorkinn I; Wilkinson E; Zadro R; Zawada M; Zizkova H; Mueller MC; Saussele S; Ernst T; Machova Polakova K; Hochhaus A; Cross NCP
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2022;198(1):103-113

  Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy

  Voso M-T; Pandzic T; Falconi G; Dencic-Fekete M; De Bellis E; Scarfo L; Ljungstrom V; Iskas M; Del Poeta G; Ranghetti P; Laidou S; Cristiano A; Plevova K; Imbergamo S; Engvall M; Zucchetto A; Salvetti C; Mauro FR; Stavroyianni N; Cavelier L; Ghia P; Stamatopoulos K; Fabiani E; Baliakas P
• Article: BJU INTERNATIONAL. 2022;130(1):92-101

  Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma

  Grahn A; Eisfeldt J; Malm C; Foroughi Asl H; Jaremko G; Tham E; Brehmer M
• Preprint: RESEARCH SQUARE. 2022

  PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~200,000 patients

  Giardiello D; Hooning M; Hauptmann M; Keeman R; Heemskerk-Gerritsen B; Becker H; Blomqvist C; Bojesen S; Bolla M; Camp N; Czene K; Devilee P; Eccles D; Fasching P; Figueroa J; Flyger H; García-Closas M; Haiman C; Hamann U; Hopper J; Jakubowska A; Leeuwen F; Lindblom A; Lubiński J; Margolin S; Martinez ME; Nevanlinna H; Nevelsteen I; Pelders S; Pharoah PDP; Siesling S; Southey M; Hout AVD; Hest LV; Chang-Claude J; Hall P; Easton D; Steyerberg E; Schmidt M
• Journal article: HEMASPHERE. 2022;6(Suppl):1167-1168

  P1282: DISEASE‐SPECIFIC U1 SPLICEOSOMAL RNA MUTATIONS IN MATURE B‐CELL NEOPLASMS

  Nadeu F; Shuai S; Clot G; Hilton LK; Diaz‐Navarro A; Martín S; Royo R; Baumann T; Kulis M; López‐Oreja I; Cossio M; Lu J; Ljungström V; Young E; Plevova K; Knisbacher BA; Lin Z; Hahn CK; Bousquets P; Alcoceba M; González M; Colado E; Aymerich M; Terol MJ; Rivas‐Delgado A; Enjuanes A; Ruiz‐Gaspà S; Chatzikonstantinou T; Hägerstrand D; Jylhä C; Skaftason A; Mansouri L; Stranska K; Doubek M; van Gastel‐Mol EJ; Davis Z; Walewska R; Scarfò L; Trentin L; Visentin A; Parikh SA; Rabe KG; Moia R; Armand M; Rossi D; Davi F; Gaidano G; Kay NE; Shanafelt T; Ghia P; Oscier D; Langerak AW; Beà S; López‐Guillermo A; Neuberg D; Wu CJ; Getz G; Pospisilova S; Stamatopoulos K; Rosenquist R; Huber W; Zenz T; Colomer D; Martín‐Subero JI; Delgado J; Morin RD; Stein LD; Puente XS; Campo E
• Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:904507

  Recurrent Hypokalemia and Adrena Steroids in Patients With APECED

  Borchers J; Makitie O; Jaaskelainen J; Laakso S
• Article: SCIENTIFIC REPORTS. 2022;12(1):9838

  Altered cytoskeletal status in the transition from proneural to mesenchymal glioblastoma subtypes

  Keller M; Blom M; Conze LL; Guo M; Hagerstrand D; Aspenstrom P
• Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908

  Case Report: Inversion of LMX1B-A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

  Lindelof H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjo A
• Article: FRONTIERS IN IMMUNOLOGY. 2022;13:854312

  FOXO1 and FOXO3 Cooperatively Regulate Innate Lymphoid Cell Development

  Luu TT; Sondergaard JN; Pena-Perez L; Kharazi S; Krstic A; Meinke S; Schmied L; Frengen N; Heshmati Y; Kierczak M; Bouderlique T; Wagner AK; Gustafsson C; Chambers BJ; Achour A; Kutter C; Hoglund P; Mansson R; Kadri N
• Article: DIAGNOSTICS. 2022;12(6):1389

  LymphoTrack Is Equally Sensitive as PCR GeneScan and Sanger Sequencing for Detection of Clonal Rearrangements in ALL Patients.

  Paulsen K; Marincevic M; Cavelier L; Hollander P; Amini R-M
• Article: BLOOD. 2022;139(22):3340-3344

  Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations

  Tausch E; Ljungstrom V; Agathangelidis A; Zapatka M; Scarfo L; Jebaraj BMC; Yosifov DY; Mueller A; Munugalavadla V; Degenhardt JD; Ghia P; Rosenquist R; Stilgenbauer S
• Editorial: HEMASPHERE. 2022;6(6):e726

  The EHA Research Roadmap: Malignant Lymphoid Diseases.

  Dreyling M; André M; Gökbuget N; Tilly H; Jerkeman M; Gribben J; Ferreri A; Morel P; Stilgenbauer S; Fox C; Maria Ribera J; Zweegman S; Aurer I; Bödör C; Burkhardt B; Buske C; Dollores Caballero M; Campo E; Chapuy B; Davies A; de Leval L; Doorduijn J; Federico M; Gaulard P; Gay F; Ghia P; Grønbæk K; Goldschmidt H; Kersten M-J; Kiesewetter B; Landman-Parker J; Le Gouill S; Lenz G; Leppä S; Lopez-Guillermo A; Macintyre E; Mantega MVM; Moreau P; Moreno C; Nadel B; Okosun J; Owen R; Pospisilova S; Pott C; Robak T; Spina M; Stamatopoulos K; Stary J; Tarte K; Tedeschi A; Thieblemont C; Trappe RU; Trümper LH; Salles G
• Article: PRENATAL DIAGNOSIS. 2022;42(7):934-946

  Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey

  Buchanan J; Hill M; Vass CM; Hammond J; Riedijk S; Klapwijk JE; Harding E; Lou S; Vogel I; Hui L; Ingvoldstad-Malmgren C; Soller MJ; Ormond KE; Choolani M; Zheng Q; Chitty LS; Lewis C
• Preprint: RESEARCH SQUARE. 2022

  Dental health of patients with X-linked hypophosphatemia – a controlled study

  Larsson A; Regnstrand T; Skott P; Mäkitie O; Björnsdottir S; Legert KG
• Article: GENOME MEDICINE. 2022;14(1):51

  Breast cancer risks associated with missense variants in breast cancer susceptibility genes

  Dorling L; Carvalho S; Allen J; Parsons MT; Fortuno C; Gonzalez-Neira A; Heijl SM; Adank MA; Ahearn TU; Andrulis IL; Auvinen P; Becher H; Beckmann MW; Behrens S; Bermisheva M; Bogdanova NV; Bojesen SE; Bolla MK; Bremer M; Briceno I; Camp NJ; Campbell A; Castelao JE; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Collee JM; Czene K; Dennis J; Dork T; Eriksson M; Evans DG; Fasching PA; Figueroa J; Flyger H; Gabrielson M; Gago-Dominguez M; Garcia-Closas M; Giles GG; Glendon G; Guenel P; Gundert M; Hadjisavvas A; Hahnen E; Hall P; Hamann U; Harkness EF; Hartman M; Hogervorst FBL; Hollestelle A; Hoppe R; Howell A; Jakubowska A; Jung A; Khusnutdinova E; Kim S-W; Ko Y-D; Kristensen VN; Lakeman IMM; Li J; Lindblom A; Loizidou MA; Lophatananon A; Lubinski J; Luccarini C; Madsen MJ; Mannermaa A; Manoochehri M; Margolin S; Mavroudis D; Milne RL; Mohd Taib NA; Muir K; Nevanlinna H; Newman WG; Oosterwijk JC; Park SK; Peterlongo P; Radice P; Saloustros E; Sawyer EJ; Schmutzler RK; Shah M; Sim X; Southey MC; Surowy H; Suvanto M; Tomlinson I; Torres D; Truong T; van Asperen CJ; Waltes R; Wang Q; Yang XR; Pharoah PDP; Schmidt MK; Benitez J; Vroling B; Dunning AM; Teo SH; Kvist A; de la Hoya M; Devilee P; Spurdle AB; Vreeswijk MPG; Easton DF
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2022;40(14):1529-1541

  Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

  Li S; Silvestri V; Leslie G; Rebbeck TR; Neuhausen SL; Hopper JL; Nielsen HR; Lee A; Yang X; McGuffog L; Parsons MT; Andrulis IL; Arnold N; Belotti M; Borg A; Buecher B; Buys SS; Caputo SM; Chung WK; Colas C; Colonna SV; Cook J; Daly MB; de la Hoya M; de Pauw A; Delhomelle H; Eason J; Engel C; Evans DG; Faust U; Fehm TN; Fostira F; Fountzilas G; Frone M; Garcia-Barberan V; Garre P; Gauthier-Villars M; Gehrig A; Glendon G; Goldgar DE; Golmard L; Greene MH; Hahnen E; Hamann U; Hanson H; Hassan T; Hentschel J; Horvath J; Izatt L; Janavicius R; Jiao Y; John EM; Karlan BY; Kim S-W; Konstantopoulou I; Kwong A; Lauge A; Lee JW; Lesueur F; Mebirouk N; Meindl A; Mouret-Fourme E; Musgrave H; Yie JNY; Niederacher D; Park SK; Pedersen IS; Ramser J; Ramus SJ; Rantala J; Rashid MU; Reichl F; Ritter J; Rump A; Santamarina M; Saule C; Schmidt G; Schmutzler RK; Senter L; Shariff S; Singer CF; Southey MC; Stoppa-Lyonnet D; Sutter C; Tan Y; Teo SH; Terry MB; Thomassen M; Tischkowitz M; Toland AE; Torres D; Vega A; Wagner SA; Wang-Gohrke S; Wappenschmidt B; Weber BHF; Yannoukakos D; Spurdle AB; Easton DF; Chenevix-Trench G; Ottini L; Antoniou AC
• Article: FRONTIERS IN IMMUNOLOGY. 2022;13:880668

  FOXO Dictates Initiation of B Cell Development and Myeloid Restriction in Common Lymphoid Progenitors

  Pena-Perez L; Kharazi S; Frengen N; Krstic A; Bouderlique T; Hauenstein J; He M; Somuncular E; Li Wang X; Dahlberg C; Gustafsson C; Johansson A-S; Walfridsson J; Kadri N; Woll P; Kierczak M; Qian H; Westerberg L; Luc S; Mansson R
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(5):630-631

  Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

  Dareng EO; Tyrer JP; Barnes DR; Jones MR; Yang X; Aben KKH; Adank MA; Agata S; Andrulis IL; Anton-Culver H; Antonenkova NN; Aravantinos G; Arun BK; Augustinsson A; Balmana J; Bandera EV; Barkardottir RB; Barrowdale D; Beckmann MW; Beeghly-Fadiel A; Benitez J; Bermisheva M; Bernardini MQ; Bjorge L; Black A; Bogdanova NV; Bonanni B; Borg A; Brenton JD; Budzilowska A; Butzow R; Buys SS; Cai H; Caligo MA; Campbell I; Cannioto R; Cassingham H; Chang-Claude J; Chanock SJ; Chen K; Chiew Y-E; Chung WK; Claes KBM; Colonna S; Cook LS; Couch FJ; Daly MB; Dao F; Davies E; de la Hoya M; de Putter R; Dennis J; DePersia A; Devilee P; Diez O; Ding YC; Doherty JA; Domchek SM; Dork T; du Bois A; Durst M; Eccles DM; Eliassen HA; Engel C; Evans GD; Fasching PA; Flanagan JM; Fortner RT; Machackova E; Friedman E; Ganz PA; Garber J; Gensini F; Giles GG; Glendon G; Godwin AK; Goodman MT; Greene MH; Gronwald J; Hahnen E; Haiman CA; Hakansson N; Hamann U; Hansen TVO; Harris HR; Hartman M; Heitz F; Hildebrandt MAT; Hogdall E; Hogdall CK; Hopper JL; Huang R-Y; Huff C; Hulick PJ; Huntsman DG; Imyanitov EN; Isaacs C; Jakubowska A; James PA; Janavicius R; Jensen A; Johannsson OT; John EM; Jones ME; Kang D; Karlan BY; Karnezis A; Kelemen LE; Khusnutdinova E; Kiemeney LA; Kim B-G; Kjaer SK; Komenaka I; Kupryjanczyk J; Kurian AW; Kwong A; Lambrechts D; Larson MC; Lazaro C; Le ND; Leslie G; Lester J; Lesueur F; Levine DA; Li L; Li J; Loud JT; Lu KH; Lubinski J; Mai PL; Manoukian S; Marks JR; Matsuno RK; Matsuo K; May T; McGuffog L; McLaughlin JR; McNeish IA; Mebirouk N; Menon U; Miller A; Milne RL; Minlikeeva A; Modugno F; Montagna M; Moysich KB; Munro E; Nathanson KL; Neuhausen SL; Nevanlinna H; Yie JNY; Nielsen HR; Nielsen FC; Nikitina-Zake L; Odunsi K; Offit K; Olah E; Olbrecht S; Olopade OI; Olson SH; Olsson H; Osorio A; Papi L; Park SK; Parsons MT; Pathak H; Pedersen IS; Peixoto A; Pejovic T; Perez-Segura P; Permuth JB; Peshkin B; Peterlongo P; Piskorz A; Prokofyeva D; Radice P; Rantala J; Riggan MJ; Risch HA; Rodriguez-Antona C; Ross E; Rossing MA; Runnebaum I; Sandler DP; Santamarina M; Soucy P; Schmutzler RK; Setiawan VW; Shan K; Sieh W; Simard J; Singer CF; Sokolenko AP; Song H; Southey MC; Steed H; Stoppa-Lyonnet D; Sutphen R; Swerdlow AJ; Tan YY; Teixeira MR; Teo SH; Terry KL; Terry MB; Thomassen M; Thompson PJ; Thomsen LCV; Thull DL; Tischkowitz M; Titus L; Toland AE; Torres D; Trabert B; Travis R; Tung N; Tworoger SS; Valen E; van Altena AM; van der Hout AH; Van Nieuwenhuysen E; van Rensburg EJ; Vega A; Edwards DV; Vierkant RA; Wang F; Wappenschmidt B; Webb PM; Weinberg CR; Weitzel JN; Wentzensen N; White E; Whittemore AS; Winham SJ; Wolk A; Woo Y-L; Wu AH; Yan L; Yannoukakos D; Zavaglia KM; Zheng W; Ziogas A; Zorn KK; Kleibl Z; Easton D; Lawrenson K; DeFazio A; Sellers TA; Ramus SJ; Pearce CL; Monteiro AN; Cunningham JM; Goode EL; Schildkraut JM; Berchuck A; Chenevix-Trench G; Gayther SA; Antoniou AC; Pharoah PDP
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2022;108(5):369-378

  Identifying patients with chronic lymphocytic leukemia without need of treatment: End of endless watch and wait?

  Brieghel C; Galle V; Agius R; Da Cunha-Bang C; Andersen MA; Vlummens P; Mattsson M; Rosenquist R; Smedby KE; Herling CD; Bahlo J; Hallek M; Lundgren JD; Offner F; Niemann CU
• Letter: LEUKEMIA. 2022;36(5):1436-1439

  "Randomized phase II study of azacitidine ± lenalidomide in higher-risk myelodysplastic syndromes and acute myeloid leukemia with a karyotype including Del(5q)"

  Rasmussen B; Gohring G; Bernard E; Nilsson L; Tobiasson M; Jadersten M; Garelius H; Dybedal I; Gronbaek K; Ejerblad E; Lorenz F; Flogegard M; Marcher CW; oster Fernstrom A; Cavelier L; Papaemmanuil E; Ebeling F; Kittang AO; Norgaard JM; Saft L; Mollgard L; Hellstrom-Lindberg E
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2022;197(4):431-441

  International validation of the EORTC QLQ-CLL17 questionnaire for assessment of health-related quality of life for patients with chronic lymphocytic leukaemia

  Oerlemans S; Efficace F; Kieffer JM; Kyriakou C; Xochelli A; Levedahl K; Petranovic D; Borges FC; Bredart A; Shamieh O; Gziskevicius L; Lehmann J; Scholz CW; Caocci G; Molica S; Stamatopoulos K; Panteliadou A-K; Papaioannou M; Alrjoob W; Baliakas P; Rosenquist R; Malak S; Miranda A; Cocks K; van de Poll-Franse L
• Article: PLOS PATHOGENS. 2022;18(5):e1010494

  Multi-omics analysis of the cervical epithelial integrity of women using depot medroxyprogesterone acetate

  Bradley F; Boger MF; Kaldhusdal V; Ahlberg A; Edfeldt G; Lajoie J; Bergstrom S; Omollo K; Damdimopoulos A; Czarnewski P; Manberg A; Oyugi J; Kimani J; Nilsson P; Fowke K; Tjernlund A; Broliden K
• Article: CANCER REPORTS. 2022;5(5):e1498

  The association between Annexin A2 and epithelial cell adhesion molecule in breast cancer cells

  Al-Qahtani SM; Gadalla SE; Guo M; Ericsson C; Hagerstrand D; Nister M
• Review: CALCIFIED TISSUE INTERNATIONAL. 2022;110(5):546-561

  Early-Onset Osteoporosis

  Makitie O; Zillikens MC
• Journal article: BONE REPORTS. 2022;16:101412

  Clinical findings of the temporomandibular joint in 21 patients with Cartilage-hair hypoplasia and 42 controls

  Arponen H; Mäkitie O
• Journal article: BONE REPORTS. 2022;16:101391

  Osteogenically differentiated human fibroblasts – an alternative model to study bone diseases

  Pihlström S; Määttä K; Mäkitie R; Aronen M; Mäkitie O; Pekkinen M
• Journal article: BONE REPORTS. 2022;16:101311

  Collagen X biomarker, linear growth and bone development in a Vitamin D intervention study in Infants

  Hauta-Alus H; Valkama S; Holmlund-Suila E; Enlund-Cerullo M; Rosendahl J; Andersson S; Mäkitie O
• Journal article: BONE REPORTS. 2022;16:101289

  Bone tissue evaluation indicates abnormal mineralization in patients with autoimmune polyendocrine syndrome type I

  Laakso S; Xiaoyu T; Blouin S; Välimäki V-V; Kröger H; Mäkitie O; Hartmann MA
• Conference publication: BONE REPORTS. 2022;16:101512

  Mosaic deletions of known genes explain skeletal dysplasias with high and low bone mass

  Muurinen M; Taylan F; Tournis T; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Mäkitie O; Costantini A
• Article: BIOINFORMATICS. 2022;38(9):2624-2625

  monaLisa: an R/Bioconductor package for identifying regulatory motifs.

  Machlab D; Burger L; Soneson C; Rijli FM; Schübeler D; Stadler MB
• Article: BIOMEDICINES. 2022;10(5):1004

  Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer

  Liu Y; Helgadottir HT; Kharaziha P; Choi J; Lopez-Giraldez F; Mane SM; Hoiom V; Juhlin CC; Larsson C; Bajalica-Lagercrantz S
• Article: BLOOD ADVANCES. 2022;6(8):2657-2666

  Incidence and time trends of second primary malignancies after non-Hodgkin lymphoma: a Swedish population-based study

  Joelsson J; Wasterlid T; Rosenquist R; Jakobsen LH; El-Galaly TC; Smedby KE; Eloranta S
• Article: BLOOD ADVANCES. 2022;6(7):2275-2289

  A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

  Bang B; Eisfeldt J; Barbany G; Harila-Saari A; Heyman M; Zachariadis V; Taylan F; Nordgren A
• Article: HEMASPHERE. 2022;6(4):e707

  Cytogenetics in Chronic Lymphocytic Leukemia: ERIC Perspectives and Recommendations

  Baliakas P; Espinet B; Mellink C; Jarosova M; Athanasiadou A; Ghia P; Kater AP; Oscier D; Haferlach C; Stamatopoulos K
• Letter: TRANSPLANTATION. 2022;106(4):e244-e246

  Long-term Outcome of Kidney Transplantation in 6 Patients With Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy

  Laakso S; Kaijansinkko H; Raisanen-Sokolowski A; Jahnukainen T; Kataja J; Makitie O; Helantera I; Jalanko H
• Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880

  Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

  Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
• Article: JOURNAL OF INFECTIOUS DISEASES. 2022;225(7):1151-1161

  Regular Use of Depot Medroxyprogesterone Acetate Causes Thinning of the Superficial Lining and Apical Distribution of Human Immunodeficiency Virus Target Cells in the Human Ectocervix

  Edfeldt G; Lajoie J; Rohl M; Oyugi J; Ahlberg A; Khalilzadeh-Binicy B; Bradley F; Mack M; Kimani J; Omollo K; Wahlby C; Fowke KR; Broliden K; Tjernlund A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42

  Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

  Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
• Doctoral thesis: 2022

  Studies of genetic mosaicism in rare diseases

  Frisk S
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2022;107(4):e1610-e1619

  Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib

  Milioto A; Reyes M; Hanna P; Kiuchi Z; Turan S; Zeve D; Agarwal C; Grigelioniene G; Chen A; Mericq V; Frangos M; Ten S; Mantovani G; Salusky IB; Tebben P; Juppner H
• Article: FRONTIERS IN MEDICINE. 2022;9:842507

  A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias

  Berglund E; Barbany G; Orsmark-Pietras C; Fogelstrand L; Abrahamsson J; Golovleva I; Hallbook H; Hoglund M; Lazarevic V; Levin L-A; Nordlund J; Noren-Nystrom U; Palle J; Thangavelu T; Palmqvist L; Wirta V; Cavelier L; Fioretos T; Rosenquist R; Clinical GPSGMS
• Article: CANCERS. 2022;14(6):1385

  Downregulation and Hypermethylation of GABPB1 Is Associated with Aggressive Thyroid Cancer Features

  Xing X; Mu N; Yuan X; Wang N; Juhlin CC; Straat K; Larsson C; Neo SY; Xu D
• Article: FRONTIERS IN GENETICS. 2022;13:839349

  Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity

  Loid P; Pekkinen M; Mustila T; Tossavainen P; Viljakainen H; Lindstrand A; Maekitie O
• Preprint: RESEARCH SQUARE. 2022

  Patient-specific assays based on whole-genome sequencing data to measure residual disease in children with acute lymphoblastic leukemia – a proof-of- concept study

  Arthur C; Rezayee F; Mogensen N; Saft L; Rosenquist R; Nordenskjöld M; Harila-Saari A; Tham E; Barbany G
• Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:845889

  A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

  Maekitie RE; Toiviainen-Salo S; Kaitila I; Maekitie O
• Article: METABOLISM OPEN. 2022;13:100167

  Diversity of respiratory parameters and metabolic adaptation to low oxygen tension in mesenchymal stromal cells

  Olesen K; Moruzzi N; Bulatovic I; Folmes C; Jeon R; Felldin U; Terzic A; Simonson OE; Le Blanc K; Osterholm C; Berggren P-O; Schiffer T; Rodin S; Tilevik A; Grinnemo K-H
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(3):349-362

  Polygenic risk modeling for prediction of epithelial ovarian cancer risk

  Dareng EO; Tyrer JP; Barnes DR; Jones MR; Yang X; Aben KKH; Adank MA; Agata S; Andrulis IL; Anton-Culver H; Antonenkova NN; Aravantinos G; Arun BK; Augustinsson A; Balmana J; Bandera EV; Barkardottir RB; Barrowdale D; Beckmann MW; Beeghly-Fadiel A; Benitez J; Bermisheva M; Bernardini MQ; Bjorge L; Black A; Bogdanova NV; Bonanni B; Borg A; Brenton JD; Budzilowska A; Butzow R; Buys SS; Cai H; Caligo MA; Campbell I; Cannioto R; Cassingham H; Chang-Claude J; Chanock SJ; Chen K; Chiew Y-E; Chung WK; Claes KBM; Colonna S; Cook LS; Couch FJ; Daly MB; Dao F; Davies E; de la Hoya M; de Putter R; Dennis J; DePersia A; Devilee P; Diez O; Ding YC; Doherty JA; Domchek SM; Dork T; du Bois A; Durst M; Eccles DM; Eliassen HA; Engel C; Evans GD; Fasching PA; Flanagan JM; Fortner R; Machackova E; Friedman E; Ganz PA; Garber J; Gensini F; Giles GG; Glendon G; Godwin AK; Goodman MT; Greene MH; Gronwald J; Group OS; AOCSGroup; Hahnen E; Haiman CA; Hakansson N; Hamann U; Hansen TVO; Harris HR; Hartman M; Heitz F; Hildebrandt MAT; Hogdall E; Hogdall CK; Hopper JL; Huang R-Y; Huff C; Hulick PJ; Huntsman DG; Imyanitov EN; Isaacs C; Jakubowska A; James PA; Janavicius R; Jensen A; Johannsson OT; John EM; Jones ME; Kang D; Karlan BY; Karnezis A; Kelemen LE; Khusnutdinova E; Kiemeney LA; Kim B-G; Kjaer SK; Komenaka I; Kupryjanczyk J; Kurian AW; Kwong A; Lambrechts D; Larson MC; Lazaro C; Le ND; Leslie G; Lester J; Lesueur F; Levine DA; Li L; Li J; Loud JT; Lu KH; Mai PL; Manoukian S; Marks JR; KimMatsuno R; Matsuo K; May T; McGuffog L; McLaughlin JR; McNeish IA; Mebirouk N; Menon U; Miller A; Milne RL; Minlikeeva A; Modugno F; Montagna M; Moysich KB; Munro E; Nathanson KL; Neuhausen SL; Nevanlinna H; Yie JNY; Nielsen HR; Nielsen FC; Nikitina-Zake L; Odunsi K; Offit K; Olah E; Olbrecht S; Olopade OI; Olson SH; Olsson H; Osorio A; Papi L; Park SK; Parsons MT; Pathak H; Pedersen IS; Peixoto A; Pejovic T; Perez-Segura P; Permuth JB; Peshkin B; Peterlongo P; Piskorz A; Prokofyeva D; Radice P; Rantala J; Riggan MJ; Risch HA; Rodriguez-Antona C; Ross E; Rossing MA; Runnebaum I; Sandler DP; Santamarina M; Soucy P; Schmutzler RK; Setiawan VW; Shan K; Sieh W; Simard J; Singer CF; Sokolenko AP; Song H; Southey MC; Steed H; Stoppa-Lyonnet D; Sutphen R; Swerdlow AJ; Tan YY; Teixeira MR; Teo SH; Terry KL; BethTerry M; Thomassen M; Thompson PJ; Thomsen LCV; Thull DL; Tischkowitz M; Titus L; Toland AE; Torres D; Trabert B; Travis R; Tung N; Tworoger SS; Valen E; van Altena AM; van der Hout AH; Nieuwenhuysen E; van Rensburg EJ; Vega A; Edwards DV; Vierkant RA; Wang F; Wappenschmidt B; Webb PM; Weinberg CR; Weitzel JN; Wentzensen N; White E; Whittemore AS; Winham SJ; Wolk A; Woo Y-L; Wu AH; Yan L; Yannoukakos D; Zavaglia KM; Zheng W; Ziogas A; Zorn KK; Kleibl Z; Easton D; Lawrenson K; DeFazio A; Sellers TA; Ramus SJ; Pearce CL; Monteiro AN; Cunningham J; Goode EL; Schildkraut JM; Berchuck A; Chenevix-Trench G; Gayther SA; Antoniou AC; Pharoah PDP
• Article: MOLECULAR CARCINOGENESIS. 2022;61(3):288-300

  Colorectal cancer risk susceptibility loci in a Swedish population

  Liu W; Mahdessian H; Helgadottir H; Zhou X; Thutkawkorapin J; Jiao X; Wolk A; Lindblom A
• Article: JAMA ONCOLOGY. 2022;8(3):e216744

  Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

  Mavaddat N; Dorling L; Carvalho S; Allen J; Gonzalez-Neira A; Keeman R; Bolla MK; Dennis J; Wang Q; Ahearn TU; Andrulis IL; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Blomqvist C; Bogdanova NV; Bojesen SE; Briceno I; Bruning T; Camp NJ; Campbell A; Castelao JE; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Christiansen H; Czene K; Dork T; Eriksson M; Evans DG; Fasching PA; Figueroa JD; Flyger H; Gabrielson M; Gago-Dominguez M; Geisler J; Giles GG; Guenel P; Hadjisavvas A; Hahnen E; Hall P; Hamann U; Hartikainen JM; Hartman M; Hoppe R; Howell A; Jakubowska A; Jung A; Khusnutdinova EK; Kristensen VN; Li J; Lim SH; Lindblom A; Loizidou MA; Lophatananon A; Lubinski J; Madsen MJ; Mannermaa A; Manoochehri M; Margolin S; Mavroudis D; Milne RL; Taib NAM; Morra A; Muir K; Obi N; Osorio A; Park-Simon T-W; Peterlongo P; Radice P; Saloustros E; Sawyer EJ; Schmutzler RK; Shah M; Sim X; Southey MC; Thorne H; Tomlinson I; Torres D; Truong T; Yip CH; Spurdle AB; Vreeswijk MPG; Dunning AM; Garcia-Closas M; Pharoah PDP; Kvist A; Muranen TA; Nevanlinna H; Teo SH; Devilee P; Schmidt MK; Easton DF
• Letter: LEUKEMIA. 2022;36(3):889-891

  Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?

  Ljungström V; Mattisson J; Halvardson J; Pandzic T; Davies H; Rychlicka-Buniowska E; Danielsson M; Lacaze P; Cavelier L; Dumanski JP; Baliakas P; Forsberg LA
• Article: CANCERS. 2022;14(5):1206

  A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16

  Barnekow E; Liu W; Helgadottir HT; Michailidou K; Dennis J; Bryant P; Thutkawkorapin J; Wendt C; Czene K; Hall P; Margolin S; Lindblom A
• Letter: LEUKEMIA & LYMPHOMA. 2022;63(3):755-758

  Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation

  Jadersten M; Boriskina K; Lindholm C; Westrom S; Cavelier L; Hellstrom-Lindberg E; Mielke S; Tobiasson M
• Article: PLOS ONE. 2022;17(2):e0264056

  A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

  Lagerstedt-Robinson K; Korberg IB; Tsiaprazis S; Bjorck E; Tham E; Poluha A; Pigg MH; Paulsson-Karlsson Y; Nordenskjold M; Johansson-Soller M; Aravidis C
• Article: NPJ GENOMIC MEDICINE. 2022;7(1):11

  Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

  Zhao S; Zhang Y; Hallgrimsdottir S; Zuo Y; Li X; Batkovskyte D; Liu S; Lindelof H; Wang S; Hammarsjo A; Yang Y; Ye Y; Wang L; Yan Z; Lin J; Yu C; Chen Z; Niu Y; Wang H; Zhao Z; Liu P; Qiu G; Posey JE; Wu Z; Lupski JR; Micule I; Anderlid B-M; Voss U; Sulander D; Kuchinskaya E; Nordgren A; Nilsson O; Zhang TJ; Grigelioniene G; Wu N
• Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146

  A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

  Ponten E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
• Article: CLINICAL NUTRITION. 2022;41(2):279-287

  Iron status in early childhood is modified by diet, sex and growth: Secondary analysis of a randomized controlled vitamin D trial

  Holmlund-Suila EM; Hauta-alus HH; Enlund-Cerullo M; Rosendahl J; Valkama SM; Andersson S; Makitie O
• Article: PLOS ONE. 2022;17(1):e0261898

  Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design

  Hammond J; Klapwijk JE; Riedijk S; Lou S; Ormond KE; Vogel I; Hui L; Sziepe E-J; Buchanan J; Ingvoldstad-Malmgren C; Soller MJ; Harding E; Hill M; Lewis C
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2022;107(2):e528-e537

  Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies

  Laakso S; Holopainen E; Betterle C; Saari V; Vogt E; Schmitt MM; Winer KK; Kareva M; Sabbadin C; Husebye ES; Orlova E; Lionakis MS; Makitie O
• Article: CANCERS. 2022;14(2):380

  Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)

  Omran M; Tham E; Brandberg Y; Ahlstrom H; Lundgren C; Paulsson-Karlsson Y; Kuchinskaya E; Silander G; Rosen A; Persson F; Leonhardt H; Stenmark-Askmalm M; Berg J; van Westen D; Bajalica-Lagercrantz S; Blomqvist L
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2022;114(1):109-122

  Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

  Barnes DR; Silvestri V; Leslie G; McGuffog L; Dennis J; Yang X; Adlard J; Agnarsson BA; Ahmed M; Aittomaki K; Andrulis IL; Arason A; Arnold N; Auber B; Azzollini J; Balmana J; Barkardottir RB; Barrowdale D; Barwell J; Belotti M; Benitez J; Berthet P; Boonen SE; Borg A; Bozsik A; Brady AF; Brennan P; Brewer C; Brunet J; Bucalo A; Buys SS; Caldes T; Caligo MA; Campbell I; Cassingham H; Christensen LL; Cini G; Claes KBM; Cook J; Coppa A; Cortesi L; Damante G; Darder E; Davidson R; de la Hoya M; De Leeneer K; de Putter R; Del Valle J; Diez O; Ding YC; Domchek SM; Donaldson A; Eason J; Eeles R; Engel C; Evans DG; Feliubadalo L; Fostira F; Frone M; Frost D; Gallagher D; Gehrig A; Giraud S; Glendon G; Godwin AK; Goldgar DE; Greene MH; Gregory H; Gross E; Hahnen E; Hamann U; Hansen TVO; Hanson H; Hentschel J; Horvath J; Izatt L; Izquierdo A; James PA; Janavicius R; Jensen UB; Johannsson OT; John EM; Kramer G; Kroeldrup L; Kruse TA; Lautrup C; Lazaro C; Lesueur F; Lopez-Fernandez A; Mai PL; Manoukian S; Matrai Z; Matricardi L; Maxwell KN; Mebirouk N; Meindl A; Montagna M; Monteiro AN; Morrison PJ; Muranen TA; Murray A; Nathanson KL; Neuhausen SL; Nevanlinna H; Tu N-D; Niederacher D; Olah E; Olopade OI; Palli D; Parsons MT; Pedersen IS; Peissel B; Perez-Segura P; Peterlongo P; Petersen AH; Pinto P; Porteous ME; Pottinger C; Pujana MA; Radice P; Ramser J; Rantala J; Robson M; Rogers MT; Ronlund K; Rump A; Sanchez de Abajo AM; Shah PD; Sharif S; Side LE; Singer CF; Stadler Z; Steele L; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teule A; Thull DL; Tischkowitz M; Toland AE; Tommasi S; Toss A; Trainer AH; Tripathi V; Valentini V; van Asperen CJ; Venturelli M; Viel A; Vijai J; Walker L; Wang-Gohrke S; Wappenschmidt B; Whaite A; Zanna I; Offit K; Thomassen M; Couch FJ; Schmutzler RK; Simard J; Easton DF; Chenevix-Trench G; Antoniou AC; Ottini L
• Article: BLOOD ADVANCES. 2022;6(1):152-164

  Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression

  Stratmann S; Yones SA; Garbulowski M; Sun J; Skaftason A; Mayrhofer M; Norgren N; Herlin MK; Sundstrom C; Eriksson A; Hoglund M; Palle J; Abrahamsson J; Jahnukainen K; Munthe-Kaas MC; Zeller B; Tamm KP; Cavelier L; Komorowski J; Holmfeldt L
• Article: BREAST CANCER RESEARCH. 2022;24(1):2

  Common variants in breast cancer risk loci predispose to distinct tumor subtypes

  Ahearn TU; Zhang H; Michailidou K; Milne RL; Bolla MK; Dennis J; Dunning AM; Lush M; Wang Q; Andrulis IL; Anton-Culver H; Arndt V; Aronson KJ; Auer PL; Augustinsson A; Baten A; Becher H; Behrens S; Benitez J; Bermisheva M; Blomqvist C; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brauch H; Brenner H; Brooks-Wilson A; Bruening T; Burwinkel B; Buys SS; Canzian F; Castelao JE; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Clarke CL; Collee JM; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Dork T; Dwek M; Eccles DM; Evans DG; Fasching PA; Figueroa J; Floris G; Gago-Dominguez M; Gapstur SM; Garcia-Saenz JA; Gaudet MM; Giles GG; Goldberg MS; Gonzalez-Neira A; Alnaes GIG; Grip M; Guenel P; Haiman CA; Hall P; Hamann U; Harkness EF; Heemskerk-Gerritsen BAM; Holleczek B; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Howell A; Jakimovska M; Jakubowska A; John EM; Jones ME; Jung A; Kaaks R; Kauppila S; Keeman R; Khusnutdinova E; Kitahara CM; Ko Y-D; Koutros S; Kristensen VN; Kruger U; Kubelka-Sabit K; Kurian AW; Kyriacou K; Lambrechts D; Lee DG; Lindblom A; Linet M; Lissowska J; Llaneza A; Lo W-Y; MacInnis RJ; Mannermaa A; Manoochehri M; Margolin S; Martinez ME; McLean C; Meindl A; Menon U; Nevanlinna H; Newman WG; Nodora J; Offit K; Olsson H; Orr N; Park-Simon T-W; Patel AV; Peto J; Pita G; Plaseska-Karanfilska D; Prentice R; Punie K; Pylkas K; Radice P; Rennert G; Romero A; Ruediger T; Saloustros E; Sampson S; Sandler DP; Sawyer EJ; Schmutzler RK; Schoemaker MJ; Schottker B; Sherman ME; Shu X-O; Smichkoska S; Southey MC; Spinelli JJ; Swerdlow AJ; Tamimi RM; Tapper WJ; Taylor JA; Teras LR; Terry MB; Torres D; Troester MA; Vachon CM; van Deurzen CHM; van Veen EM; Wagner P; Weinberg CR; Wendt C; Wesseling J; Winqvist R; Wolk A; Yang XR; Zheng W; Couch FJ; Simard J; Kraft P; Easton DF; Pharoah PDP; Schmidt MK; Garcia-Closas M; Chatterjee N
• Editorial: NEUROMUSCULAR DISORDERS. 2022;32(1):86-97

  259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28-29 May, 2021.

  van den Bersselaar LR; Riazi S; Snoeck M; Jungbluth H; Voermans NC; Anaesthesia and Neuromuscular Disorders Working Gr
• Article: CANCER INFORMATICS. 2022;21:11769351221110872

  Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

  Schaal W; Ameur A; Olsson-Stromberg U; Hermanson M; Cavelier L; Spjuth O
• Article: THERAPEUTIC ADVANCES IN CHRONIC DISEASE. 2022;13:20406223221117471

  Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-Linked hypophosphataemia: rationale and description

  Brandi ML; Ariceta G; Beck-Nielsen SS; Boot AM; Briot K; de Lucas Collantes C; Emma F; Giannini S; Haffner D; Keen R; Levtchenko E; Makitie O; Nilsson O; Schnabel D; Tripto-Shkolnik L; Zillikens MC; Liu J; Tudor A; Mughal MZ
• Article: METHODS IN MOLECULAR BIOLOGY. 2022;2453:585-603

  Purpose-Built Immunoinformatics for BcR IG/TR Repertoire Data Analysis.

  Galigalidou C; Zaragoza-Infante L; Chatzidimitriou A; Stamatopoulos K; Psomopoulos F; Agathangelidis A
• Article: GENES CHROMOSOMES & CANCER. 2022;61(1):27-36

  Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology

  Skaftason A; Qu Y; Abdulla M; Nordlund J; Berglund M; Ednersson SB; Andersson P-O; Enblad G; Amini R-M; Rosenquist R; Mansouri L
• Journal article: MEDICAL RESEARCH ARCHIVES. 2022;10(4)

  Linkage and association analysis define novel regions for the risk of adenomas and colorectal cancer

  Liu W; Gonn M; Holst S; Thutkawkorapin J; Jiao X; Björk2 J; Backman A-S; Lagerstedt-Robinson K; Lindblom A
• Article: GENES. 2021;13(1):83

  BRCA2 Haploinsufficiency in Telomere Maintenance.

  Gunnarsdottir SR; Bjarnason H; Thorvaldsdottir B; Paland F; Steinarsdottir M; Eyfjörd JE; Bödvarsdottir SK
• Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2021;118(51):e2100687118

  A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.

  Landegren N; Ishii N; Aranda-Guillén M; Gunnarsson HI; Sardh F; Hallgren Å; Ståhle M; Hagforsen E; Bradley M; Edqvist P-HD; Pontén F; Mäkitie O; Eidsmo L; Norlén L; Achour A; Dahlbom I; Korponay-Szabó I; Agardh D; Alimohammadi M; Eriksson D; Hashimoto T; Kämpe O
• Article: FRONTIERS IN ENDOCRINOLOGY. 2021;12:741548

  Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls

  Arponen H; Evaelahti M; Maekitie O
• Editorial: BLOOD. 2021;138(23):2305-2307

  The more complex, the worse outcome in CLL

  Rosenquist R
• Other: BONE REPORTS. 2021;15:101121

  Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

  Basalom S; Fiscaletti M; Miranda V; Huber C; Couture G; Drouin R; Monceau E; Wavrant S; Dube J; Makitie O; Cormier-Daire V; Campeau PM
• Article: NATURE COMMUNICATIONS. 2021;12(1):7002

  Histone variant H2A.Z regulates zygotic genome activation.

  Ibarra-Morales D; Rauer M; Quarato P; Rabbani L; Zenk F; Schulte-Sasse M; Cardamone F; Gomez-Auli A; Cecere G; Iovino N
• Article: LEUKEMIA. 2021;35(12):3444-3454

  COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study.

  Chatzikonstantinou T; Kapetanakis A; Scarfò L; Karakatsoulis G; Allsup D; Cabrero AA; Andres M; Antic D; Baile M; Baliakas P; Bron D; Capasso A; Chatzileontiadou S; Cordoba R; Correa J-G; Cuéllar-García C; De Paoli L; De Paolis MR; Del Poeta G; Demosthenous C; Dimou M; Donaldson D; Doubek M; Efstathopoulou M; Eichhorst B; El-Ashwah S; Enrico A; Espinet B; Farina L; Ferrari A; Foglietta M; Frederiksen H; Fürstenau M; García-Marco JA; García-Serra R; Gentile M; Gimeno E; Glenthøj A; Gomes da Silva M; Gutwein O; Hakobyan YK; Herishanu Y; Hernández-Rivas JÁ; Herold T; Innocenti I; Itchaki G; Jaksic O; Janssens A; Kalashnikova ОB; Kalicińska E; Karlsson LK; Kater AP; Kersting S; Labrador J; Lad D; Laurenti L; Levin M-D; Lista E; Lopez-Garcia A; Malerba L; Marasca R; Marchetti M; Marquet J; Mattsson M; Mauro FR; Milosevic I; Mirás F; Morawska M; Motta M; Munir T; Murru R; Niemann CU; Rodrigues RN; Olivieri J; Orsucci L; Papaioannou M; Pavlovsky MA; Piskunova I; Popov VM; Quaglia FM; Quaresmini G; Qvist K; Reda G; Rigolin GM; Ruchlemer R; Saghumyan G; Shrestha A; Šimkovič M; Špaček M; Sportoletti P; Stanca O; Stavroyianni N; Tadmor T; Te Raa D; Tonino SH; Trentin L; Van Der Spek E; van Gelder M; van Kampen R; Varettoni M; Visentin A; Vitale C; Wasik-Szczepanek E; Wróbel T; San Segundo LY; Yassin M; Coscia M; Rambaldi A; Montserrat E; Foà R; Cuneo A; Stamatopoulos K; Ghia P
• Article: CALCIFIED TISSUE INTERNATIONAL. 2021;109(6):626-632

  A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

  Makitie RE; Pekkinen M; Morisada N; Kobayashi D; Yonezawa Y; Nishimura G; Ikegawa S; Makitie O
• Article: HUMAN GENETICS. 2021;140(12):1709-1731

  TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

  Whitman MC; Barry BJ; Robson CD; Facio FM; Van Ryzin C; Chan W-M; Lehky TJ; Thurm A; Zalewski C; King KA; Brewer C; Almpani K; Lee JS; Delaney A; FitzGibbon EJ; Lee PR; Toro C; Paul SM; Abdul-Rahman OA; Webb BD; Jabs EW; Moller HU; Larsen DA; Antony JH; Troedson C; Ma A; Ragnhild G; Wirgenes KV; Tham E; Kvarnung M; Maarup TJ; MacKinnon S; Hunter DG; Collins FS; Manoli I; Engle EC
• Article: STEM CELLS. 2021;39(12):1751-1765

  Spatiotemporal extracellular matrix modeling for in situ cell niche studies

  Olesen K; Rodin S; Mak WC; Felldin U; Osterholm C; Tilevik A; Grinnemo K-H
• Article: FRONTIERS IN ENDOCRINOLOGY. 2021;12:784195

  Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)

  Saari V; Laakso S; Tiitinen A; Maekitie O; Holopainen E
• Doctoral thesis: 2021

  Diagnostic and prognostic markers in thyroid carcinoma with focus on TERT activation

  Mu N
• Meeting abstract: BLOOD. 2021;138:2617

  Different Prognostic Impact of Recurrent Gene Mutations in IGHV-Mutated and IGHV-Unmutated Chronic Lymphocytic Leukemia: A Retrospective, Multi-Center Cohort Study By Eric, the European Research Initiative on CLL, in Harmony

  Mansouri L; Thorvaldsdottir B; Sutton L-A; Meggendorfer M; Nadeu F; Brieghel C; Parker H; Laidou S; Moia R; Rossi D; Catherwood M; Kotaskova J; Delgado J; Rodriguez-Vicente AE; Benito R; Rigolin GM; Bonfiglio S; Scarfo L; Mattsson M; Davis Z; Gogia A; Rani L; Baliakas P; Jylha C; Skaftason A; Rapado I; Miras F; Martinez-Lopez J; de la Serna J; Hernandez Rivas JM; Thornton P; Jose Larrayoz M; Jose Calasanz M; Matrai Z; Bodor C; Smedby KE; Espinet B; Puiggros A; Gupta R; Bullinger L; Bosch F; Tazon B; Baran-Marszak F; Oscier D; Nguyen-Khac F; Zenz T; Jose Terol M; Cuneo A; Hernandez-Sanchez M; Pospisilova S; Mills KI; Gaidano G; Niemann CU; Campo E; Strefford JC; Ghia P; Stamatopoulos K; Rosenquist R
• Meeting abstract: BLOOD. 2021;138:3515

  Mutations of the Novel Tumor Suppressor Gene SAMHD1 Are Frequent and Correlate with Decreased Protein Expression in Peripheral T-Cell Lymphomas (PTCL)

  Kokaraki G; Xagoraris I; Da Silva PFN; Sutton LA; Falcao RM; de Souza JES; Osterborg A; Wirta V; Brandell RR; Rassidakis GZ
• Article: NUTRIENTS. 2021;13(11):4164

  Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study

  Nounu A; Richmond RC; Stewart ID; Surendran P; Wareham NJ; Butterworth A; Weinstein SJ; Albanes D; Baron JA; Hopper JL; Figueiredo JC; Newcomb PA; Lindor NM; Casey G; Platz EA; Marchand LL; Ulrich CM; Li CI; van Dujinhoven FJB; Gsur A; Campbell PT; Moreno V; Vodicka P; Vodickova L; Amitay E; Alwers E; Chang-Claude J; Sakoda LC; Slattery ML; Schoen RE; Gunter MJ; Castellvi-Bel S; Kim H-R; Kweon S-S; Chan AT; Li L; Zheng W; Bishop DT; Buchanan DD; Giles GG; Gruber SB; Rennert G; Stadler ZK; Harrison TA; Lin Y; Keku TO; Woods MO; Schafmayer C; Van Guelpen B; Gallinger S; Hampel H; Berndt SI; Pharoah PDP; Lindblom A; Wolk A; Wu AH; White E; Peters U; Drew DA; Scherer D; Bermejo JL; Brenner H; Hoffmeister M; Williams AC; Relton CL
• Corrigendum: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):47

  Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis (vol 19, 46, 2021)

  Wallander K; Thonberg H; Nilsson D; Tham E
• Review: FRONTIERS IN ONCOLOGY. 2021;11:769612

  Understanding Monoclonal B Cell Lymphocytosis: An Interplay of Genetic and Microenvironmental Factors

  Galigalidou C; Zaragoza-Infante L; Iatrou A; Chatzidimitriou A; Stamatopoulos K; Agathangelidis A
• Letter: LEUKEMIA & LYMPHOMA. 2021;62(13):3288-3291

  TAp63 and BCL2 expression are co-affected by cell-extrinsic signals in chronic lymphocytic leukemia

  Koutroumani M; Laidou S; Kotta K; Stamatopoulos K
• Review: FRONTIERS IN ONCOLOGY. 2021;11:771454

  Distinctive Signaling Profiles With Distinct Biological and Clinical Implications in Aggressive CLL Subsets With Stereotyped B-Cell Receptor Immunoglobulin

  Gerousi M; Laidou S; Gemenetzi K; Stamatopoulos K; Chatzidimitriou A
• Study protocol: BMJ OPEN. 2021;11(11):e050256

  MyPal ADULT study protocol: a randomised clinical trial of the MyPal ePRO-based early palliative care system in adult patients with haematological malignancies

  Scarfo L; Karamanidou C; Doubek M; Garani-Papadatos T; Didi J; Pontikoglou C; Ling J; Payne C; Papadaki HA; Rosenquist R; Stavroyianni N; Payne S; Ghia P; Natsiavas P; Maramis C; Stamatopoulos K
• Article: JBMR PLUS. 2021;5(11):e10537

  Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations

  Makitie RE; Blouin S; Valimaki V-V; Pihlstrom S; Maatta K; Pekkinen M; Fratzl-Zelman N; Makitie O; Hartmann MA
• Article: EJHAEM. 2021;2(4):813-817

  Cytogenetic aberrations in adult acute lymphoblastic leukemia-A population-based study

  Lennmyr EB; Engvall M; Barbany G; Fogelstrand L; Rhodin H; Hallbook H
• Editorial: JCO PRECISION ONCOLOGY. 2021;5:974-980

  Discordant Reporting of a Previously CD Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma

  Kordes M; Tamborero D; Lagerstedt-Robinson K; Yachnin J; Rosenquist R; Lohr J-M; Liljefors MG
• Article: NATURE CANCER. 2021;2(11):1224-1242

  Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune-evasion mechanisms

  Lehtio J; Arslan T; Siavelis I; Pan Y; Socciarelli F; Berkovska O; Umer HM; Mermelekas G; Pirmoradian M; Jonsson M; Brunnstrom H; Brustugun OT; Purohit KP; Cunningham R; Asl HF; Isaksson S; Arbajian E; Aine M; Karlsson A; Kotevskaz M; Hansen CG; Haakensen VD; Helland A; Tamborero D; Johansson HJ; Branca RM; Planckz M; Staaf J; Orre LM
• Article: LEUKEMIA. 2021;35(11):3163-3175

  Myeloid-derived suppressor cell subtypes differentially influence T-cell function, T-helper subset differentiation, and clinical course in CLL

  Ferrer G; Jung B; Chiu PY; Aslam R; Palacios F; Mazzarello AN; Vergani S; Bagnara D; Chen S-S; Yancopoulos S; Xochelli A; Yan X-J; Burger JA; Barrientos JC; Kolitz JE; Allen SL; Stamatopoulos K; Rai KR; Sherry B; Chiorazzi N
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):46

  Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

  Wallander K; Thonberg H; Nilsson D; Tham E
• Preprint: MEDRXIV. 2021

  Salicylic acid and risk of colorectal cancer: a two sample Mendelian randomization study

  Nounu A; Richmond R; Stewart I; Surendran P; Wareham N; Butterworth A; Weinstein S; Albanes D; Baron J; Hopper J; Figueiredo J; Newcomb P; Lindor N; Casey G; Platz E; Marchand LL; Ulrich C; Li C; van Duijnhoven FJB; Gsur A; Campbell P; Moreno V; Vodicka P; Vodickova L; Amitay E; Alwers E; Chang-Claude J; Sakoda L; Slattery M; Schoen R; Gunter M; Castellví-Bel S; Kim HR; Kweon S-S; Chan A; Li L; Zheng W; Bishop T; Buchanan D; Giles G; Gruber S; Rennert G; Stadler Z; Harrison T; Lin Y; Keku T; Woods M; Schafmayer C; Van Guelpen B; Gallinger S; Hampel H; Berndt S; Pharoah P; Lindblom A; Wolk A; Wu A; White E; Peters U; Drew D; Scherer D; Bermejo JL; Brenner H; Hoffmeister M; Williams A; Relton C
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2021;106(11):3312-3319

  Women With Chronic Hypoparathyroidism Have Low Risk of Adverse Pregnancy Outcomes

  Bjornsdottir S; Clarke B; Makitie O; Sandstrom A; Tiblad E; Spelman T; Kampe O
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2021;185(5):K13-K17

  Infections and demanding endocrine care contribute to increased mortality in patients with APECED

  Borchers J; Makitie O; Laakso S
• Article: SCIENTIFIC REPORTS. 2021;11(1):19787

  Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

  Escala-Garcia M; Canisius S; Keeman R; Beesley J; Anton-Culver H; Arndt V; Augustinsson A; Becher H; Beckmann MW; Behrens S; Bermisheva M; Bojesen SE; Bolla MK; Brenner H; Canzian F; Castelao JE; Chang-Claude J; Chanock SJ; Couch FJ; Czene K; Daly MB; Dennis J; Devilee P; Dork T; Dunning AM; Easton DF; Ekici AB; Eliassen AH; Fasching PA; Flyger H; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Geisler J; Giles GG; Grip M; Guendert M; Hahnen E; Haiman CA; Hakansson N; Hall P; Hamann U; Hartikainen JM; Heemskerk-Gerritsen BAM; Hollestelle A; Hoppe R; Hopper JL; Hunter DJ; Jacot W; Jakubowska A; John EM; Jung AY; Kaaks R; Khusnutdinova E; Koppert LB; Kraft P; Kristensen VN; Kurian AW; Lambrechts D; Le Marchand L; Lindblom A; Luben RN; Lubinski J; Mannermaa A; Manoochehri M; Margolin S; Mavroudis D; Muranen TA; Nevanlinna H; Olshan AF; Olsson H; Park-Simon T-W; Patel AV; Peterlongo P; Pharoah PDP; Punie K; Radice P; Rennert G; Rennert HS; Romero A; Roylance R; Ruediger T; Ruebner M; Saloustros E; Sawyer EJ; Schmutzler RK; Schoemaker MJ; Scott C; Southey MC; Surowy H; Swerdlow AJ; Tamimi RM; Teras LR; Thomas E; Tomlinson I; Troester MA; Vachon CM; Wang Q; Winqvist R; Wolk A; Ziogas A; Michailidou K; Chenevix-Trench G; Bachelot T; Schmidt MK
• Review: CURRENT OSTEOPOROSIS REPORTS. 2021;19(5):481-493

  The Polygenic and Monogenic Basis of Paediatric Fractures

  Ghatan S; Costantini A; Li R; De Bruin C; Appelman-Dijkstra NM; Winter EM; Oei L; Medina-Gomez C
• Editorial: HAEMATOLOGICA. 2021;106(10):2783-2787

  Successful pregnancies after transplantation of ovarian tissue retrieved and cryopreserved at time of childhood acute lymphoblastic leukemia - a case report

  Rodriguez-Wallberg KA; Milenkovic M; Papaikonomou K; Keros V; Gustafsson B; Sergouniotis F; Wikander I; Perot R; Borgstrom B; Ljungman P; Barbany G
• Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008

  High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

  Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
• Article: LANCET HAEMATOLOGY. 2021;8(10):e700-e710

  Minimal residual disease, long-term outcome, and IKZF1 deletions in children and adolescents with Down syndrome and acute lymphocytic leukaemia: a matched cohort study

  Michels N; Boer JM; Enshaei A; Sutton R; Heyman M; Ebert S; Fiocco M; de Groot-Kruseman HA; van der Velden VHJ; Barbany G; Escherich G; Vora A; Trahair T; Dalla-Pozza L; Pieters R; zur Stadt U; Schmiegelow K; Moorman AV; Zwaan CM; den Boer ML
• Article: CLINICAL IMMUNOLOGY. 2021;231:108851

  Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections

  Hetemaki I; Laakso S; Valimaa H; Kleino I; Kekalainen E; Makitie O; Arstila TP
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2021;106(10):2865-2875

  Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age

  Koljonen L; Enlund-Cerullo M; Hauta-Alus H; Holmlund-Suila E; Valkama S; Rosendahl J; Andersson S; Pekkinen M; Makitie O
• Letter: LEUKEMIA & LYMPHOMA. 2021;62(11):2808-2811

  Mutations known from B-cell lymphoid malignancies are not found in CD34⁺ stem cells from patients with lymphoma

  Husby S; Favero F; Rodriguez-Gonzalez FG; Sutton LA; Haastrup EK; Orskov AD; Hansen JW; Arboe B; Aslan D; Clasen-Linde E; Rahbek Gjerdrum LM; Gorlev JS; Brown P; Fischer-Nielsen A; Rosenquist R; Weischenfeldt J; Gronbaek K
• Preprint: MEDRXIV. 2021

  Breast cancer risks associated with missense variants in breast cancer susceptibility genes

  Dorling L; Carvalho S; Allen J; Parsons M; Fortuno C; González-Neira A; Heijl S; Adank M; Ahearn T; Andrulis I; Auvinen P; Becher H; Beckmann M; Behrens S; Bermisheva M; Bogdanova N; Bojesen S; Bolla M; Bremer M; Briceno I; Camp N; Campbell A; Castelao J; Chang-Claude J; Chanock S; Chenevix-Trench G; NBCS Collaborators; Collée M; Czene K; Dennis J; Dörk T; Eriksson M; Evans G; Fasching P; Figueroa J; Flyger H; Gabrielson M; Gago-Dominguez M; García-Closas M; Giles G; Glendon G; Guénel P; Gündert M; Hadjisavvas A; Hahnen E; Hall P; Hamann U; Harkness E; Hartman M; Hogervorst FBL; Hollestelle A; Hoppe R; Howell A; kConFab Investigators; SGBCC Investigators; Jakubowska A; Jung A; Khusnutdinova E; Kim S-W; Ko Y-D; Kristensen V; Lakeman IMM; Li J; Lindblom A; Loizidou M; Lophatananon A; Lubiński J; Luccarini C; Madsen M; Mannermaa A; Manoochehri M; Margolin S; Mavroudis D; Milne R; Mohd Taib NA; Muir K; Nevanlinna H; Newman W; Oosterwijk J; Park S; Peterlongo P; Radice P; Saloustros E; Sawyer E; Schmutzler R; Shah M; Sim X; Southey M; Surowy H; Suvanto M; Tomlinson I; Torres D; Truong T; van Asperen C; Waltes R; Wang Q; Yang X; Pharoah PDP; Schmidt M; Benitez J; Vroling B; Dunning A; Teo SH; Kvist A; de la Hoya M; Devilee P; Spurdle A; Vreeswijk MPG; Easton D
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(9):1710-1724

  COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

  Marom R; Burrage LC; Venditti R; Clement A; Blanco-Sanchez B; Jain M; Scott DA; Rosenfeld JA; Sutton VR; Shinawi M; Mirzaa G; DeVile C; Roberts R; Calder AD; Allgrove J; Grafe I; Lanza DG; Li X; Joeng KS; Lee Y-C; Song I-W; Sliepka JM; Batkovskyte D; Washington M; Dawson BC; Jin Z; Jiang M-M; Chen S; Chen Y; Tran AA; Emrick LT; Murdock DR; Hanchard NA; Zapata GE; Mehta NR; Weis MA; Scott AA; Tremp BA; Phillips JB; Wegner J; Taylor-Miller T; Gibbs RA; Muzny DM; Jhangiani SN; Hicks J; Stottmann RW; Dickinson ME; Seavitt JR; Heaney JD; Eyre DR; Westerfield M; De Matteis MA; Lee B
• Article: ACTA ONCOLOGICA. 2021;60(9):1140-1145

  Bisphosphonate treatment in children with acute lymphoblastic leukemia and osteonecrosis - radiological and clinical findings in a national cohort

  Utriainen P; Niinimaki TT; Huurre AJ; Vepsalainen KL; Makitie OM; Niinimaki RA
• Article: GENETICS IN MEDICINE. 2021;23(9):1726-1737

  The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

  Lakeman IMM; van den Broek AJ; Vos JAM; Barnes DR; Adlard J; Andrulis IL; Arason A; Arnold N; Arun BK; Balmana J; Barrowdale D; Benitez J; Borg A; Caldes T; Caligo MA; Chung WK; Claes KBM; Collee JM; Couch FJ; Daly MB; Dennis J; Dhawan M; Domchek SM; Eeles R; Engel C; Evans DG; Feliubadalo L; Foretova L; Friedman E; Frost D; Ganz PA; Garber J; Gayther SA; Gerdes A-M; Godwin AK; Goldgar DE; Hahnen E; Hake CR; Hamann U; Hogervorst FBL; Hooning MJ; Hopper JL; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Jakubowska A; James PA; Janavicius R; Jensen UB; Jiao Y; John EM; Joseph V; Karlan BY; Kets CM; Konstantopoulou I; Kwong A; Legrand C; Leslie G; Lesueur F; Loud JT; Lubinski J; Manoukian S; McGuffog L; Miller A; Gomes DM; Montagna M; Mouret-Fourme E; Nathanson KL; Neuhausen SL; Nevanlinna H; Yie JNY; Olah E; Olopade OI; Park SK; Parsons MT; Peterlongo P; Piedmonte M; Radice P; Rantala J; Rennert G; Risch HA; Schmutzler RK; Sharma P; Simard J; Singer CF; Stadler Z; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teo SH; Teule A; Thomassen M; Thull DL; Tischkowitz M; Toland AE; Tung N; van Rensburg EJ; Vega A; Wappenschmidt B; Devilee P; van Asperen CJ; Bernstein JL; Offit K; Easton DF; Rookus MA; Chenevix-Trench G; Antoniou AC; Robson M; Schmidt MK
• Article: JAMA NETWORK OPEN. 2021;4(9):e2124493

  Effect of High-Dose vs Standard-Dose Vitamin D Supplementation on Neurodevelopment of Healthy Term Infants A Randomized Clinical Trial

  Tuovinen S; Raikkonen K; Holmlund-Suila E; Hauta-Alus H; Helve O; Rosendahl J; Enlund-Cerullo M; Kajantie E; Valkama S; Viljakainen H; Makitie O; Andersson S; Heinonen K
• Review: JOURNAL OF INTERNAL MEDICINE. 2021;290(3):602-620

  Technological readiness and implementation of genomic-driven precision medicine for complex diseases

  Franks PW; Melen E; Friedman M; Sundstrom J; Kockum I; Klareskog L; Almqvist C; Bergen SE; Czene K; Hagg S; Hall P; Johnell K; Malarstig A; Catrina A; Hagstrom H; Benson M; Smith JG; Gomez MF; Orho-Melander M; Jacobsson B; Halfvarson J; Repsilber D; Oresic M; Jern C; Melin B; Ohlsson C; Fall T; Ronnblom L; Wadelius M; Nordmark G; Johansson A; Rosenquist R; Sullivan PF
• Article: FRONTIERS IN ONCOLOGY. 2021;11:740083

  Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia

  Kolijn PM; Muggen AF; Ljungstrom V; Agathangelidis A; Wolvers-Tettero ILM; Beverloo HB; Pal K; Hengeveld PJ; Darzentas N; Hendriks RW; van Dongen JJM; Rosenquist R; Langerak AW
• Article: FRONTIERS IN PEDIATRICS. 2021;9:610227

  Serum and Urinary Osteocalcin in Healthy 7-to 19-Year-Old Finnish Children and Adolescents

  Paldanius PM; Ivaska KK; Makitie O; Viljakainen H
• Article: BLOOD ADVANCES. 2021;5(16):3188-3198

  Validation of the EuroClonality-NGS DNA capture panel as an integrated genomic tool for lymphoproliferative disorders.

  Stewart JP; Gazdova J; Darzentas N; Wren D; Proszek P; Fazio G; Songia S; Alcoceba M; Sarasquete ME; Villarese P; van der Klift MY; Heezen KC; McCafferty N; Pal K; Catherwood M; Kim CS; Srivastava S; Kroeze LI; Hodges E; Stamatopoulos K; Klapper W; Genuardi E; Ferrero S; van den Brand M; Cazzaniga G; Davi F; Sutton L-A; Garcia-Sanz R; Groenen PJTA; Macintyre EA; Brüggemann M; Pott C; Langerak AW; Gonzalez D; EuroClonality-NGS Working Group
• Article: NATURE. 2021;596(7872):393-397

  Genetic insights into biological mechanisms governing human ovarian ageing

  Ruth KS; Day FR; Hussain J; Martinez-Marchal A; Aiken CE; Azad A; Thompson DJ; Knoblochova L; Abe H; Tarry-Adkins JL; Gonzalez JM; Fontanillas P; Claringbould A; Bakker OB; Sulem P; Walters RG; Terao C; Turon S; Horikoshi M; Lin K; Onland-Moret NC; Sankar A; Hertz EPT; Timshel PN; Shukla V; Borup R; Olsen KW; Aguilera P; Ferrer-Roda M; Huang Y; Stankovic S; Timmers PRHJ; Ahearn TU; Alizadeh BZ; Naderi E; Andrulis IL; Arnold AM; Aronson KJ; Augustinsson A; Bandinelli S; Barbieri CM; Beaumont RN; Becher H; Beckmann MW; Benonisdottir S; Bergmann S; Bochud M; Boerwinkle E; Bojesen SE; Bolla MK; Boomsma DI; Bowker N; Brody JA; Broer L; Buring JE; Campbell A; Campbell H; Castelao JE; Catamo E; Chanock SJ; Chenevix-Trench G; Ciullo M; Corre T; Couch FJ; Cox A; Crisponi L; Cross SS; Cucca F; Czene K; Smith GD; de Geus EJCN; de Mutsert R; De Vivo I; Demerath EW; Dennis J; Dunning AM; Dwek M; Eriksson M; Esko T; Fasching PA; Faul JD; Ferrucci L; Franceschini N; Frayling TM; Gago-Dominguez M; Mezzavilla M; Garcia-Closas M; Gieger C; Giles GG; Grallert H; Gudbjartsson DF; Gudnason V; Guenel P; Haiman CA; Hakansson N; Hall P; Hayward C; He C; He W; Heiss G; Hoffding MK; Hopper JL; Hottenga JJ; Hu F; Hunter D; Ikram MA; Jackson RD; Joaquim MDR; John EM; Joshi PK; Karasik D; Kardia SLR; Kartsonaki C; Karlsson R; Kitahara CM; Kolcic I; Kooperberg C; Kraft P; Kurian AW; Kutalik Z; La Bianca M; LaChance G; Langenberg C; Launer LJ; Laven JSE; Lawlor DA; Le Marchand L; Li J; Lindblom A; Lindstrom S; Lindstrom T; Linet M; Liu Y; Liu S; Luan J; Magi R; Magnusson PKE; Mangino M; Mannermaa A; Marco B; Marten J; Martin NG; Mbarek H; McKnight B; Medland SE; Meisinger C; Meitinger T; Menni C; Metspalu A; Milani L; Milne RL; Montgomery GW; Mook-Kanamori DO; Mulas A; Mulligan AM; Murray A; Nalls MA; Newman A; Noordam R; Nutile T; Nyholt DR; Olshan AF; Olsson H; Painter JN; Patel AV; Pedersen NL; Perjakova N; Peters A; Peters U; Pharoah PDP; Polasek O; Porcu E; Psaty BM; Rahman I; Rennert G; Rennert HS; Ridker PM; Ring SM; Robino A; Rose LM; Rosendaal FR; Rossouw J; Rudan I; Rueedi R; Ruggiero D; Sala CF; Saloustros E; Sandler DP; Sanna S; Sawyer EJ; Sarnowski C; Schlessinger D; Schmidt MK; Schoemaker MJ; Schraut KE; Scott C; Shekari S; Shrikhande A; Smith AV; Smith BH; Smith JA; Sorice R; Southey MC; Spector TD; Spinelli JJ; Stampfer M; Stoeckl D; van Meurs JBJ; Strauch K; Styrkarsdottir U; Swerdlow AJ; Tanaka T; Teras LR; Teumer A; thorsteinsdottir U; Timpson NJ; Toniolo D; Traglia M; Troester MA; Truong T; Tyrrell J; Uitterlinden AG; Ulivi S; Vachon CM; Vitart V; Voelker U; Vollenweider P; Voelzke H; Wang Q; Wareham NJ; Weinberg CR; Weir DR; Wilcox AN; van Dijk KW; Willemsen G; Wilson JF; Wolffenbuttel BHR; Wolk A; Wood AR; Zhao W; Zygmunt M; Chen Z; Li L; Franke L; Burgess S; Deelen P; Pers TH; Grondahl ML; Andersen CY; Pujol A; Lopez-Contreras AJ; Daniel JA; Stefansson K; Chang-Claude J; van der Schouw YT; Lunetta KL; Chasman DI; Easton DF; Visser JA; Ozanne SE; Namekawa SH; Solc P; Murabito JM; Ong KK; Hoffmann ER; Murray A; Roig I; Perry JRB
• Article: BREAST CANCER RESEARCH. 2021;23(1):86

  Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

  Morra A; Escala-Garcia M; Beesley J; Keeman R; Canisius S; Ahearn TU; Andrulis IL; Anton-Culver H; Arndt V; Auer PL; Augustinsson A; Freeman LEB; Becher H; Beckmann MW; Behrens S; Bojesen SE; Bolla MK; Brenner H; Bruening T; Buys SS; Caan B; Campa D; Canzian F; Castelao JE; Chang-Claude J; Chanock SJ; Cheng T-YD; Clarke CL; Colonna SV; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Dennis J; Dork T; Dossus L; Dunning AM; Dwek M; Eccles DM; Ekici AB; Eliassen AH; Eriksson M; Evans DG; Fasching PA; Flyger H; Fritschi L; Gago-Dominguez M; Garcia-Saenz JA; Giles GG; Grip M; Guenel P; Guendert M; Hahnen E; Haiman CA; Hakansson N; Hall P; Hamann U; Hart SN; Hartikainen JM; Hartmann A; He W; Hooning MJ; Hoppe R; Hopper JL; Howell A; Hunter DJ; Jager A; Jakubowska A; Janni W; John EM; Jung AY; Kaaks R; Keupers M; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Kurian AW; Lacey JV; Lambrechts D; Le Marchand L; Lindblom A; Linet M; Luben RN; Lush M; Mannermaa A; Manoochehri M; Margolin S; Martens JWM; Martinez ME; Mavroudis D; Michailidou K; Milne RL; Mulligan AM; Muranen TA; Nevanlinna H; Newman WG; Nielsen SF; Nordestgaard BG; Olshan AF; Olsson H; Orr N; Park-Simon T-W; Patel AV; Peissel B; Peterlongo P; Plaseska-Karanfilska D; Prajzendanc K; Prentice R; Presneau N; Rack B; Rennert G; Rennert HS; Rhenius V; Romero A; Roylance R; Lubinski J; Ruebner M; Saloustros E; Sawyer EJ; Schmutzler RK; Schneeweiss A; Scott C; Shah M; Smichkoska S; Southey MC; Stone J; Surowy H; Swerdlow AJ; Tamimi RM; Tapper WJ; Teras LR; Terry MB; Tollenaar RAEM; Tomlinson I; Troester MA; Truong T; Vachon CM; Wang Q; Hurson AN; Winqvist R; Wolk A; Ziogas A; Brauch H; Garcia-Closas M; Pharoah PDP; Easton DF; Chenevix-Trench G; Schmidt MK
• Review: FRONTIERS IN ENDOCRINOLOGY. 2021;12:709815

  The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects

  Koromani F; Alonso N; Alves I; Brandi ML; Foessl I; Formosa MM; Morgenstern MF; Karasik D; Kolev M; Makitie O; Ntzani E; Obermayer-Pietsch B; Ohlsson C; Rauner M; Soe K; Soldatovic I; Teti A; Valjevac A; Rivadeneira F
• Review: FRONTIERS IN ENDOCRINOLOGY. 2021;12:709711

  A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

  Formosa MM; Bergen DJM; Gregson CL; Maurizi A; Kampe A; Garcia-Giralt N; Zhou W; Grinberg D; Ovejero Crespo D; Zillikens MC; Williams GR; Bassett JHD; Brandi ML; Sangiorgi L; Balcells S; Hoegler W; Van Hul W; Makitie O
• Corrigendum: ONCOGENE. 2021;40(32):5153

  SFRP2 induces a mesenchymal subtype transition by suppression of SOX2 in glioblastoma (May, 10.1038/s41388-021-01825-2, 2021)

  Guo M; Goudarzi KM; Abedi S; Pieber M; Sjoberg E; Behnan J; Zhang X-M; Harris RA; Bartek J; Lindstrom MS; Nister M; Hagerstrand D
• Article: ONCOGENE. 2021;40(32):5066-5080

  SFRP2 induces a mesenchymal subtype transition by suppression of SOX2 in glioblastoma

  Guo M; Goudarzi KM; Abedi S; Pieber M; Sjoberg E; Behnan J; Zhang X-M; Harris RA; Bartek J; Lindstrom MS; Nister M; Hagerstrand D
• Article: INTERNATIONAL JOURNAL OF CANCER. 2021;149(3):627-634

  Identification of known and novel familial cancer genes in Swedish colorectal cancer families

  Helgadottir HT; Thutkawkorapin J; Rohlin A; Nordling M; Lagerstedt-Robinson K; Lindblom A
• Article: HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA. 2021;35(4):687-702

  The Significance of B-cell Receptor Stereotypy in Chronic Lymphocytic Leukemia: Biological and Clinical Implications.

  Vlachonikola E; Sofou E; Chatzidimitriou A; Stamatopoulos K; Agathangelidis A
• Article: FRONTIERS IN IMMUNOLOGY. 2021;12:668219

  Fecal Bacteria Implicated in Biofilm Production Are Enriched and Associate to Gastrointestinal Symptoms in Patients With APECED - A Pilot Study

  Hetemaki I; Jian C; Laakso S; Makitie O; Pajari A-M; de Vos WM; Arstila TP; Salonen A
• Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):630

  RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature

  Ain NU; Fatima Z; Naz S; Makitie O
• Article: SCIENTIFIC REPORTS. 2021;11(1):14763

  A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

  Wendt C; Muranen TA; Mielikainen L; Thutkawkorapin J; Blomqvist C; Jiao X; Ehrencrona H; Tham E; Arver B; Melin B; Kuchinskaya E; Askmalm MS; Paulsson-Karlsson Y; Einbeigi Z; Vappling AVW; Kalso E; Tasmuth T; Kallioniemi A; Aittomaki K; Nevanlinna H; Borg A; Lindblom A
• Article: SCIENTIFIC REPORTS. 2021;11(1):14737

  Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

  Helgadottir HT; Thutkawkorapin J; Lagerstedt-Robinson K; Lindblom A
• Article: BLOOD ADVANCES. 2021;5(13):2788-2792

  RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia

  Ntoufa S; Gerousi M; Laidou S; Psomopoulos F; Tsiolas G; Moysiadis T; Papakonstantinou N; Mansouri L; Anagnostopoulos A; Stavrogianni N; Pospisilova S; Plevova K; Makris AM; Rosenquist R; Stamatopoulos K
• Article: JBMR PLUS. 2021;5(7):e10509

  An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility

  Makitie RE; Henning P; Jiu Y; Kampe A; Kogan K; Costantini A; Valimaki V-V; Medina-Gomez C; Pekkinen M; Salusky IB; Schalin-Jantti C; Haanpaa MK; Rivadeneira F; Bassett JHD; Williams GR; Lerner UH; Pereira RC; Lappalainen P; Makitie O
• Article: ACTA PAEDIATRICA. 2021;110(7):2252-2258

  Prevalence of and factors influencing vitamin D deficiency in paediatric patients diagnosed with cancer at northern latitudes

  Jackmann N; Gustafsson J; Harila-Saari A; Ljungman G; Nezirevic Dernroth D; Frisk P; Makitie O
• Article: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. 2021;225(1):51.e1-51.e17

  Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

  Schrijver LH; Antoniou AC; Olsson H; Mooij TM; Roos-Blom M-J; Azarang L; Adlard J; Ahmed M; Barrowdale D; Davidson R; Donaldson A; Eeles R; Evans DG; Frost D; Henderson A; Izatt L; Ong K-R; Bonadona V; Coupier I; Faivre L; Fricker J-P; Gesta P; van Engelen K; Jager A; Menko FH; Mourits MJE; Singer CF; Tan YY; Foretova L; Navratilova M; Schmutzler RK; Ellberg C; Gerdes A-M; Caldes T; Simard J; Olah E; Jakubowska A; Rantala J; Osorio A; Hopper JL; Phillips K-A; Milne RL; Terry MB; Nogues C; Engel C; Kast K; Goldgar DE; van Leeuwen FE; Easton DF; Andrieu N; Rookus MA
• Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2021;41(5):1064-1071

  Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study

  Vakkilainen S; Klemetti P; Martelius T; Seppanen MJR; Makitie O; Toiviainen-Salo S
• Article: GUT. 2021;70(7):1325-1334

  Genetic architectures of proximal and distal colorectal cancer are partly distinct

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• Review: CANCERS. 2021;13(13):3255

  T Cell Defects and Immunotherapy in Chronic Lymphocytic Leukemia

  Vlachonikola E; Stamatopoulos K; Chatzidimitriou A
• Article: JOURNAL OF CLINICAL MEDICINE. 2021;10(13):2856

  No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

  Dominguez-Valentin M; Plazzer J-P; Sampson JR; Engel C; Aretz S; Jenkins MA; Sunde L; Bernstein I; Capella G; Balaguer F; Macrae F; Winship IM; Thomas H; Evans DG; Burn J; Greenblatt M; Cappel WHDVTN; Sijmons RH; Nielsen M; Bertario L; Bonanni B; Tibiletti MG; Cavestro GM; Lindblom A; Della Valle A; Lopez-Kostner F; Alvarez K; Gluck N; Katz L; Heinimann K; Vaccaro CA; Nakken S; Hovig E; Green K; Lalloo F; Hill J; Vasen HFA; Perne C; Buettner R; Goergens H; Holinski-Feder E; Morak M; Holzapfel S; Hueneburg R; Doeberitz MVK; Loeffler M; Rahner N; Weitz J; Steinke-Lange V; Schmiegel W; Vangala D; Crosbie EJ; Pineda M; Navarro M; Brunet J; Moreira L; Sanchez A; Serra-Burriel M; Mints M; Kariv R; Rosner G; Pinero TA; Pavicic WH; Kalfayan P; ten Broeke SW; Mecklin J-P; Pylvanainen K; Renkonen-Sinisalo L; Lepisto A; Peltomaki P; Hopper JL; Win AK; Buchanan DD; Lindor NM; Gallinger S; Le Marchand L; Newcomb PA; Figueiredo JC; Thibodeau SN; Therkildsen C; Hansen TVO; Lindberg L; Rodland EA; Neffa F; Esperon P; Tjandra D; Moslein G; Seppala TT; Moller P
• Article: FRONTIERS IN GENETICS. 2021;12:680838

  Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

  Costantini A; Valta H; Suomi A-M; Makitie O; Taylan F
• Article: AMERICAN JOURNAL OF CLINICAL NUTRITION. 2021;113(6):1490-1502

  Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study

  Tsilidis KK; Papadimitriou N; Dimou N; Gill D; Lewis SJ; Martin RM; Murphy N; Markozannes G; Zuber V; Cross AJ; Burrows K; Lopez DS; Key TJ; Travis RC; Perez-Cornago A; Hunter DJ; van Duijnhoven FJB; Albanes D; Arndt V; Berndt SI; Bezieau S; Bishop DT; Boehm J; Brenner H; Burnett-Hartman A; Campbell PT; Casey G; Castellvi-Bel S; Chan AT; Chang-Claude J; de la Chapelle A; Figueiredo JC; Gallinger SJ; Giles GG; Goodman PJ; Gsur A; Hampe J; Hampel H; Hoffmeister M; Jenkins MA; Keku TO; Kweon S-S; Larsson SC; Le Marchand L; Li CI; Li L; Lindblom A; Martin V; Milne RL; Moreno V; Nan H; Nassir R; Newcomb PA; Offit K; Pharoah PDP; Platz EA; Potter JD; Qi L; Rennert G; Sakoda LC; Schafmayer C; Slattery ML; Snetselaar L; Schenk J; Thibodeau SN; Ulrich CM; Van Guelpen B; Harlid S; Visvanathan K; Vodickova L; Wang H; White E; Wolk A; Woods MO; Wu AH; Zheng W; Bueno-de-Mesquita B; Boutron-Ruault M-C; Hughes DJ; Jakszyn P; Kuehn T; Palli D; Riboli E; Giovannucci EL; Banbury BL; Gruber SB; Peters U; Gunter MJ
• Article: HEMATOLOGICAL ONCOLOGY. 2021;39:73-77

  Molecular diagnostics and reporting in lymphoid malignancies: Current status and beyond

  Rosenquist R
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2021;16(1):236

  Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility

  Anttila H; Tallqvist S; Munoz M; Leppajoki-Tiistola S; Makitie O; Hiekkala S
• Article: CANCERS. 2021;13(10):2370

  Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

  Park J; Choi J-Y; Choi J; Chung S; Song N; Park SK; Han W; Noh D-Y; Ahn S-H; Lee JW; Kim MK; Jee SH; Wen W; Bolla MK; Wang Q; Dennis J; Michailidou K; Shah M; Conroy DM; Harrington PA; Mayes R; Czene K; Hall P; Teras LR; Patel AV; Couch FJ; Olson JE; Sawyer EJ; Roylance R; Bojesen SE; Flyger H; Lambrechts D; Baten A; Matsuo K; Ito H; Guenel P; Truong T; Keeman R; Schmidt MK; Wu AH; Tseng C-C; Cox A; Cross SS; Andrulis IL; Hopper JL; Southey MC; Wu P-E; Shen C-Y; Fasching PA; Ekici AB; Muir K; Lophatananon A; Brenner H; Arndt V; Jones ME; Swerdlow AJ; Hoppe R; Ko Y-D; Hartman M; Li J; Mannermaa A; Hartikainen JM; Benitez J; Gonzalez-Neira A; Haiman CA; Doerk T; Bogdanova NV; Teo SH; Mohd Taib NA; Fletcher O; Johnson N; Grip M; Winqvist R; Blomqvist C; Nevanlinna H; Lindblom A; Wendt C; Kristensen VN; Tollenaar RAEM; Heemskerk-Gerritsen BAM; Radice P; Bonanni B; Hamann U; Manoochehri M; Lacey JV; Martinez ME; Dunning AM; Pharoah PDP; Easton DF; Yoo K-Y; Kang D
• Corrigendum: NATURE COMMUNICATIONS. 2021;12(1):2986

  A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (vol 12, 1078, 2021)

  Coignard J; Lush M; Beesley J; O'Mara TA; Dennis J; Tyrer JP; Barnes DR; McGuffog L; Leslie G; Bolla MK; Adank MA; Agata S; Ahearn T; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Arnold N; Aronson KJ; Arun BK; Augustinsson A; Azzollini J; Barrowdale D; Baynes C; Becher H; Bermisheva M; Bernstein L; Bialkowska K; Blomqvist C; Bojesen SE; Bonanni B; Borg A; Brauch H; Brenner H; Burwinkel B; Buys SS; Caldes T; Caligo MA; Campa D; Carter BD; Castelao JE; Chang-Claude J; Chanock SJ; Chung WK; Claes KBM; Clarke CL; Collee JM; Conroy DM; Czene K; Daly MB; Devilee P; Diez O; Ding YC; Domchek SM; Doerk T; dos-Santos-Silva I; Dunning AM; Dwek M; Eccles DM; Eliassen AH; Engel C; Eriksson M; Evans DG; Fasching PA; Flyger H; Fostira F; Friedman E; Fritschi L; Frost D; Gago-Dominguez M; Gapstur SM; Garber J; Garcia-Barberan V; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Gayther SA; Gehrig A; Georgoulias V; Giles GG; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hakansson N; Hall P; Hamann U; Harrington PA; Hart SN; He W; Hogervorst FBL; Hollestelle A; Hopper JL; Horcasitas DJ; Hulick PJ; Hunter DJ; Imyanitov EN; Fox S; van der Hout AH; Clarke C; Jager A; Jakubowska A; James PA; Jensen UB; John EM; Jones ME; Kaaks R; Kapoor PM; Karlan BY; Keeman R; Khusnutdinova E; Kiiski JI; Ko Y-D; Kosma V-M; Kraft P; Kurian AW; Laitman Y; Lambrechts D; Le Marchand L; Lester J; Lesueur F; Lindstrom T; Lopez-Fernandez A; Loud JT; Luccarini C; Mannermaa A; Manoukian S; Margolin S; Martens JWM; Mebirouk N; Meindl A; Miller A; Milne RL; Montagna M; Nathanson KL; Neuhausen SL; Nevanlinna H; Nielsen FC; O'Brien KM; Olopade OI; Olson JE; Olsson H; Osorio A; Ottini L; Park-Simon T-W; Parsons MT; Pedersen IS; Peshkin B; Peterlongo P; Peto J; Pharoah PDP; Phillips K-A; Polley EC; Poppe B; Presneau N; Pujana MA; Punie K; Radice P; Rantala J; Rashid MU; Rennert G; Rennert HS; Robson M; Romero A; Rossing M; Saloustros E; Sandler DP; Santella R; Scheuner MT; Schmidt MK; Schmidt G; Scott C; Sharma P; Soucy P; Southey MC; Spinelli JJ; Steinsnyder Z; Stone J; Stoppa-Lyonnet D; Swerdlow A; Tamimi RM; Tapper WJ; Taylor JA; Terry MB; Teule A; Thull DL; Tischkowitz M; Toland AE; Torres D; Trainer AH; Truong T; Tung N; Vachon CM; Vega A; Vijai J; Wang Q; Wappenschmidt B; Weinberg CR; Weitzel JN; Wendt C; Wolk A; Yadav S; Yang XR; Yannoukakos D; Zheng W; Ziogas A; Zorn KK; Park SK; Thomassen M; Offit K; Schmutzler RK; Couch FJ; Simard J; Chenevix-Trench G; Easton DF; Andrieu N; Antoniou AC
• Review: GENES. 2021;12(5):714

  SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature

  Harkonen H; Loid P; Makitie O
• Article: LAKARTIDNINGEN. 2021;118:21023

  [Genomic Medicine Sweden - a national initiative for the broad introduction of precision medicine in Swedish healthcare].

  Edsjö A; Friedman M; Rosenquist R
• Review: ENDOCRINE CONNECTIONS. 2021;10(5):R160-R174

  New gene discoveries in skeletal diseases with short stature

  Costantini A; Muurinen MH; Makitie O
• Other: LAKARTIDNINGEN. 2021;118:21015

  [The utility of whole genome sequencing in rare disease diagnostics].

  Johansson Soller M; Nordgren A; Ehrencrona H; Lovmar L; Wedell A; Lindstrand A
• Article: LAKARTIDNINGEN. 2021;118:20186

  [Precision diagnostics and therapy in hematological malignancies].

  Hellström Lindberg E; Cavelier L; Cammenga J; Andersson P-O; Fioretos T; Rosenquist R
• Article: PRENATAL DIAGNOSIS. 2021;41(6):720-732

  Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals

  Lewis C; Hammond J; Klapwijk JE; Harding E; Lou S; Vogel I; Szepe EJ; Hui L; Ingvoldstad-Malmgren C; Soller MJ; Ormond KE; Choolani M; Hill M; Riedijk S
• Article: BONE. 2021;146:115900

  Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

  Fratzl-Zelman N; Wesseling-Perry K; Makitie RE; Blouin S; Hartmann MA; Zwerina J; Valimaki V-V; Laine CM; Valimaki MJ; Pereira RC; Makitie O
• Article: GENETICS IN MEDICINE. 2021;23(5):888-899

  DLG4-related synaptopathy: a new rare brain disorder

  Rodriguez-Palmero A; Boerrigter MM; Gomez-Andres D; Aldinger KA; Marcos-Alcalde I; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard A-M; Bjerregaard VA; Bruel A-L; Challman TD; Cogne B; Coubes C; de Man SA; Denomme-Pichon A-S; Dye TJ; Elmslie F; Feuk L; Garcia-Minaur S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; Hoyer J; Hurst ACE; Isidor B; Soller MJ; Kushary S; Kvarnung M; Landau YE; Leppig KA; Lindstrand A; Kleinendorst L; MacKenzie A; Mandrile G; Mendelsohn BA; Moghadasi S; Morton JE; Moutton S; Mueller AJ; O'Leary M; Pacio-Miguez M; Palomares-Bralo M; Parikh S; Pfundt R; Pode-Shakked B; Rauch A; Repnikova E; Revah-Politi A; Ross MJ; Ruivenkamp CAL; Sarrazin E; Savatt JM; Schlueter A; Schoenewolf-Greulich B; Shad Z; Shaw-Smith C; Shieh JT; Shohat M; Spranger S; Thiese H; Mau-Them FT; van Bon B; van de Burgt I; van de Laar IMBH; van Drie E; van Haelst MM; van Ravenswaaij-Arts CM; Verdura E; Vitobello A; Waldmueller S; Whiting S; Zweier C; Prada CE; de Vries BBA; Dobyns WB; Reiter SF; Gomez-Puertas P; Pujol A; Tumer Z
• Article: JOURNAL OF MEDICAL GENETICS. 2021;58(5):351-356

  Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

  Ain NU; Baroncelli M; Costantini A; Ishaq T; Taylan F; Nilsson O; Makitie O; Naz S
• Article: BIOINFORMATICS. 2021;37(3):422-423

  pyGenomeTracks: reproducible plots for multivariate genomic datasets.

  Lopez-Delisle L; Rabbani L; Wolff J; Bhardwaj V; Backofen R; Grüning B; Ramírez F; Manke T
• Article: BLOOD. 2021;137(14):1895-1904

  Higher-order immunoglobulin repertoire restrictions in CLL: the illustrative case of stereotyped subsets 2 and 169

  Gemenetzi K; Psomopoulos F; Carriles AA; Gounari M; Minici C; Plevova K; Sutton L-A; Tsagiopoulou M; Baliakas P; Pasentsis K; Anagnostopoulos A; Sandaltzopoulos R; Rosenquist R; Davi F; Pospisilova S; Ghia P; Stamatopoulos K; Degano M; Chatzidimitriou A
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):23

  Massive parallel sequencing in a family with rectal cancer

  Wallander K; Thutkawkorapin J; Sahlin E; Lindblom A; Lagerstedt-Robinson K
• Article: ACTA ONCOLOGICA. 2021;60(4):531-538

  PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS

  Abdulla M; Alexsson A; Sundstrom C; Ladenvall C; Mansouri L; Lindskog C; Berglund M; Cavelier L; Enblad G; Hollander P; Amini R-M
• Letter: HAEMATOLOGICA. 2021;106(4):1178-1181

  Infrequent "chronic lymphocytic leukemia-specific" immunoglobulin stereotypes in aged individuals with or without low-count monoclonal B-cell lymphocytosis

  Agathangelidis A; Galigalidou C; Scarfo L; Moysiadis T; Rovida A; Gounari M; Psomopoulos F; Ranghetti P; Galanis A; Davi F; Stamatopoulos K; Chatzidimitriou A; Ghia P
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2021;30(4):623-642

  Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

  Morra A; Jung AY; Behrens S; Keeman R; Ahearn TU; Anton-Culver H; Arndt V; Augustinsson A; Auvinen PK; Freeman LEB; Becher H; Beckmann MW; Blomqvist C; Bojesen SE; Bolla MK; Brenner H; Briceno I; Brucker SY; Camp NJ; Campa D; Canzian F; Castelao JE; Chanock SJ; Choi J-Y; Clarke CL; Couch FJ; Cox A; Cross SS; Czene K; Dork T; Dunning AM; Dwek M; Easton DF; Eccles DM; Egan KM; Evans DG; Fasching PA; Flyger H; Gago-Dominguez M; Gapstur SM; Garcia-Saenz JA; Gaudet MM; Giles GG; Grip M; Guenel P; Haiman CA; Hakansson N; Hall P; Hamann U; Han SN; Hart SN; Hartman M; Heyworth JS; Hoppe R; Hopper JL; Hunter DJ; Ito H; Jager A; Jakimovska M; Jakubowska A; Janni W; Kaaks R; Kang D; Kapoor PM; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Lacey JV; Lambrechts D; Le Marchand L; Li J; Lindblom A; Lush M; Mannermaa A; Manoochehri M; Margolin S; Mariapun S; Matsuo K; Mavroudis D; Milne RL; Muranen TA; Newman WG; Noh D-Y; Nordestgaard BG; Obi N; Olshan AF; Olsson H; Park-Simon T-W; Petridis C; Pharoah PDP; Plaseska-Karanfilska D; Presneau N; Rashid MU; Rennert G; Rennert HS; Rhenius V; Romero A; Saloustros E; Sawyer EJ; Schneeweiss A; Schwentner L; Scott C; Shah M; Shen C-Y; Shu X-O; Southey MC; Stram DO; Tamimi RM; Tapper W; Tollenaar RAEM; Tomlinson I; Torres D; Troester MA; Truong T; Vachon CM; Wang Q; Wang SS; Williams JA; Winqvist R; Wolk A; Wu AH; Yoo K-Y; Yu J-C; Zheng W; Ziogas A; Yang XR; Eliassen AH; Holmes MD; Garcia-Closas M; Teo SH; Schmidt MK; Chang-Claude J
• Meeting abstract: EUROPEAN PSYCHIATRY. 2021;64:S50

  How to do genetic counseling in psychiatry?

  Soller MJ; Moldovan R; Malmgren CI; Cuthbert A; Rietschel M
• Article: SCIENTIFIC REPORTS. 2021;11(1):7119

  TP53 modulates radiotherapy fraction size sensitivity in normal and malignant cells.

  Anbalagan S; Ström C; Downs JA; Jeggo PA; McBay D; Wilkins A; Rothkamm K; Harrington KJ; Yarnold JR; Somaiah N
• Article: GENOME MEDICINE. 2021;13(1):40

  Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

  Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
• Article: BLOOD. 2021;137(10):1365-1376

  Higher-order connections between stereotyped subsets: implications for improved patient classification in CLL

  Agathangelidis A; Chatzidimitriou A; Gemenetzi K; Giudicelli V; Karypidou M; Plevova K; Davis Z; Yan X-J; Jeromin S; Schneider C; Pedersen LB; Tschumper RC; Sutton L-A; Baliakas P; Scarfo L; van Gastel EJ; Armand M; Tausch E; Biderman B; Baer C; Bagnara D; Navarro A; de Septenville AL; Guido V; Mitterbauer-Hohendanner G; Dimovski A; Brieghel C; Lawless S; Meggendorfer M; Brazdilova K; Ritgen M; Facco M; Tresoldi C; Visentin A; Patriarca A; Catherwood M; Bonello L; Sudarikov A; Vanura K; Roumelioti M; Francova HS; Moysiadis T; Veronese S; Giannopoulos K; Mansouri L; Karan-Djurasevic T; Sandaltzopoulos R; Bodor C; Fais F; Kater A; Panovska I; Rossi D; Alshemmari S; Panagiotidis P; Costeas P; Espinet B; Antic D; Foroni L; Montillo M; Trentin L; Stavroyianni N; Gaidano G; di Celle PF; Niemann C; Campo E; Anagnostopoulos A; Pott C; Fischer K; Hallek M; Oscier D; Stilgenbauer S; Haferlach C; Jelinek D; Chiorazzi N; Pospisilova S; Lefranc M-P; Kossida S; Langerak AW; Belessi C; Davi F; Rosenquist R; Ghia P; Stamatopoulos K
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2021;106(3):e1140-e1155

  The Effects of Vitamin D Supplementation During Infancy on Growth During the First 2 Years of Life

  Hauta-Alus HH; Holmlund-Suila EM; Kajantie E; Rosendahl J; Valkama SM; Enlund-Cerullo M; Andersson S; Makitie O
• Article: VACCINES. 2021;9(3):217

  HIV-Exposed Seronegative Sex Workers Express Low T-Cell Activation and an Intact Ectocervical Tissue Microenvironment

  Rohl M; Tjernlund A; Lajoie J; Edfeldt G; Bradley F; Bergstrom S; Kaldhusdal V; Ahlberg A; Manberg A; Omollo K; Boily-Larouche G; Asghar M; Kwon DS; Oyugi J; Kimani J; Nilsson P; Fowke KR; Broliden K
• Letter: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(3):527-529

  Response to Li and Hopper

  Thomas M; Sakoda LC; Hoffmeister M; Rosenthal EA; Lee JK; van Duijnhoven FJB; Platz EA; Wu AH; Dampier CH; de la Chapelle A; Wolk A; Joshi AD; Burnett-Hartman A; Gsur A; Lindblom A; Castells A; Kowin A; Namjou B; Van Guelpen B; Tangen CM; He Q; Li CI; Schafmayer C; Joshu CE; Ulrich CM; Bishop DT; Buchanan DD; Schaid D; Drew DA; Muller DC; Duggan D; Crosslin DR; Albanes D; Giovannucci EL; Larson E; Qu F; Mentch F; Giles GG; Hakonarson H; Hampel H; Stanaway IB; Figueiredo JC; Huyghe JR; Minnier J; Chang-Claude J; Hampe J; Harley JB; Visvanathan K; Curtis KR; Offit K; Li L; Le Marchand L; Vodickova L; Gunter MJ; Jenkins MA; Slattery ML; Lemire M; Woods MO; Song M; Murphy N; Lindor NM; Dikilitas O; Pharoah PDP; Campbell PT; Newcomb PA; Milne RL; MacInnis RJ; Castellvi-Bel S; Ogino S; Berndt SI; Bezieau S; Thibodeau SN; Gallinger SJ; Zaidi SH; Harrison TA; Keku TO; Hudson TJ; Vymetalkova V; Moreno V; Martin V; Arndt V; Wei W-Q; Chung W; Su Y-R; Hayes RB; White E; Vodicka P; Casey G; Gruber SB; Schoen RE; Chan AT; Potter JD; Brenner H; Jarvik GP; Corley DA; Peters U; Hsu L
• Letter: HEMASPHERE. 2021;5(3):e546

  Assessing Patients' Knowledge on Chronic Lymphocytic Leukemia: Validation of the ERIC CLL Knowledge Questionnaire in Greece

  Karamanidou C; Xochelli A; Papaioannou M; Moysiadis T; Scarfo L; Mattsson M; Stavroyianni N; Rosenquist R; Ghia P; Stamatopoulos K
• Article: HAEMATOLOGICA. 2021;106(3):682-691

  Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study

  Sutton L-A; Ljungstrom V; Enjuanes A; Cortese D; Skaftason A; Tausch E; Kozubik KS; Nadeu F; Armand M; Malcikova J; Pandzic T; Forster J; Davis Z; Oscier D; Rossi D; Ghia P; Strefford JC; Pospisilova S; Stilgenbauer S; Davi F; Campo E; Stamatopoulos K; Rosenquist R
• Article: NATURE GENETICS. 2021;53(3):379-391

  A unique bipartite Polycomb signature regulates stimulus-response transcription during development.

  Kitazawa T; Machlab D; Joshi O; Maiorano N; Kohler H; Ducret S; Kessler S; Gezelius H; Soneson C; Papasaikas P; López-Bendito G; Stadler MB; Rijli FM
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2021;30(3):564-575

  A Combined Proteomics and Mendelian Randomization Approach to Investigate the Effects of Aspirin-Targeted Proteins on Colorectal Cancer

  Nounu A; Greenhough A; Heesom KJ; Richmond RC; Zheng J; Weinstein SJ; Albanes D; Baron JA; Hopper JL; Figueiredo JC; Newcomb PA; Lindor NM; Casey G; Platz EA; Le Marchand L; Ulrich CM; Li CI; van Duijnhoven FJB; Gsur A; Campbell PT; Moreno V; Vodicka P; Vodickova L; Brenner H; Chang-Claude J; Hoffmeister M; Sakoda LC; Slattery ML; Schoen RE; Gunter MJ; Castellvi-Bel S; Kim HR; Kweon S-S; Chan AT; Li L; Zheng W; Bishop DT; Buchanan DD; Giles GG; Gruber SB; Rennert G; Stadler ZK; Harrison TA; Lin Y; Keku TO; Woods MO; Schafmayer C; Van Guelpen B; Gallinger S; Hampel H; Berndt SI; Pharoah PDP; Lindblom A; Wolk A; Wu AH; White E; Peters U; Drew DA; Scherer D; Bermejo JL; Williams AC; Relton CL
• Article: GASTROENTEROLOGY. 2021;160(4):1164-1178.e6

  Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

  Guo X; Lin W; Wen W; Huyghe J; Bien S; Cai Q; Harrison T; Chen Z; Qu C; Bao J; Long J; Yuan Y; Wang F; Bai M; Abecasis GR; Albanes D; Berndt SI; Bezieau S; Bishop DT; Brenner H; Buch S; Burnett-Hartman A; Campbell PT; Castellvi-Bel S; Chan AT; Chang-Claude J; Chanock SJ; Cho SH; Conti DV; de la Chapelle A; Feskens EJM; Gallinger SJ; Giles GG; Goodman PJ; Gsur A; Guinter M; Gunter MJ; Hampe J; Hampel H; Hayes RB; Hoffmeister M; Kampman E; Kang HM; Keku TO; Kim HR; Le Marchand L; Lee SC; Li CI; Li L; Lindblom A; Lindor N; Milne RL; Moreno V; Murphy N; Newcomb PA; Nickerson DA; Offit K; Pearlman R; Pharoah PDP; Platz EA; Potter JD; Rennert G; Sakoda LC; Schafmayer C; Schmit SL; Schoen RE; Schumacher FR; Slattery ML; Su Y-R; Tangen CM; Ulrich CM; van Duijnhoven FJB; Van Guelpen B; Visvanathan K; Vodicka P; Vodickova L; Vymetalkova V; Wang X; White E; Wolk A; Woods MO; Casey G; Hsu L; Jenkins MA; Gruber SB; Peters U; Zheng W
• Article: HAEMATOLOGICA. 2021;106(3):692-700

  Stem cell factor is implicated in microenvironmental interactions and cellular dynamics of chronic lymphocytic leukemia

  Gavriilidis GI; Ntoufa S; Papakostantinou N; Kotta K; Koletsa T; Chartomatsidou E; Moysiadis T; Stavroyianni N; Anagnostopoulos A; Papadaki E; Tsiftsoglou AS; Stamatopoulos K
• Article: BLOOD ADVANCES. 2021;5(4):1003-1016

  Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML

  Mareschal S; Palau A; Lindberg J; Ruminy P; Nilsson C; Bengtzen S; Engvall M; Eriksson A; Neddermeyer A; Marchand V; Jansson M; Bjorklund M; Jardin F; Rantalainen M; Lennartsson A; Cavelier L; Gronberg H; Lehmann S
• Article: NATURE COMMUNICATIONS. 2021;12(1):1078

  A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

  Coignard J; Lush M; Beesley J; O'Mara TA; Dennis J; Tyrer JP; Barnes DR; McGuffog L; Leslie G; Bolla MK; Adank MA; Agata S; Ahearn T; Aittomaeki K; Andrulis IL; Anton-Culver H; Arndt V; Arnold N; Aronson KJ; Arun BK; Augustinsson A; Azzollini J; Barrowdale D; Baynes C; Becher H; Bermisheva M; Bernstein L; Bialkowska K; Blomqvist C; Bojesen SE; Bonanni B; Borg A; Brauch H; Brenner H; Burwinkel B; Buys SS; Caldes T; Caligo MA; Campa D; Carter BD; Castelao JE; Chang-Claude J; Chanock SJ; Chung WK; Claes KBM; Clarke CL; Collee JM; Conroy DM; Czene K; Daly MB; Devilee P; Diez O; Ding YC; Domchek SM; Dork T; dos-Santos-Silva I; Dunning AM; Dwek M; Eccles DM; Eliassen AH; Engel C; Eriksson M; Evans DG; Fasching PA; Flyger H; Fostira F; Friedman E; Fritschi L; Frost D; Gago-Dominguez M; Gapstur SM; Garber J; Garcia-Barberan V; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Gayther SA; Gehrig A; Georgoulias V; Giles GG; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hakansson N; Hall P; Hamann U; Harrington PA; Hart SN; He W; Hogervorst FBL; Hollestelle A; Hopper JL; Horcasitas DJ; Hulick PJ; Hunter DJ; Imyanitov EN; Jager A; Jakubowska A; James PA; Jensen UB; John EM; Jones ME; Kaaks R; Kapoor PM; Karlan BY; Keeman R; Khusnutdinova E; Kiiski JI; Ko Y-D; Kosma V-M; Kraft P; Kurian AW; Laitman Y; Lambrechts D; Le Marchand L; Lester J; Lesueur F; Lindstrom T; Lopez-Fernandez A; Loud JT; Luccarini C; Mannermaa A; Manoukian S; Margolin S; Martens JWM; Mebirouk N; Meindl A; Miller A; Milne RL; Montagna M; Nathanson KL; Neuhausen SL; Nevanlinna H; Nielsen FC; O'Brien KM; Olopade OI; Olson JE; Olsson H; Osorio A; Ottini L; Park-Simon T-W; Parsons MT; Pedersen IS; Peshkin B; Peterlongo P; Peto J; Pharoah PDP; Phillips K-A; Polley EC; Poppe B; Presneau N; Angel Pujana M; Punie K; Radice P; Rantala J; Rashid MU; Rennert G; Rennert HS; Robson M; Romero A; Rossing M; Saloustros E; Sandler DP; Santella R; Scheuner MT; Schmidt MK; Schmidt G; Scott C; Sharma P; Soucy P; Southey MC; Spinelli JJ; Steinsnyder Z; Stone J; Stoppa-Lyonnet D; Swerdlow A; Tamimi RM; Tapper WJ; Taylor JA; Terry MB; Teule A; Thull DL; Tischkowitz M; Toland AE; Torres D; Trainer AH; Truong T; Tung N; Vachon CM; Vega A; Vijai J; Wang Q; Wappenschmidt B; Weinberg CR; Weitzel JN; Wendt C; Wolk A; Yadav S; Yang XR; Yannoukakos D; Zheng W; Ziogas A; Zorn KK; Park SK; Thomassen M; Offit K; Schmutzler RK; Couch FJ; Simard J; Chenevix-Trench G; Easton DF; Andrieu N; Antoniou AC
• Article: ELIFE. 2021;10:e60607

  BipA exerts temperature-dependent translational control of biofilm-associated colony morphology in Vibrio cholerae

  Santos TDP; Alvarez L; Sit B; Irazoki O; Blake J; Warner BR; Warr AR; Bala A; Benes V; Waldor MK; Fredrick K; Cava F
• Article: BLOOD ADVANCES. 2021;5(3):900-912

  Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets

  Stratmann S; Yones SA; Mayrhofer M; Norgren N; Skaftason A; Sun J; Smolinska K; Komorowski J; Herlin MK; Sundstrom C; Eriksson A; Hoglund M; Palle J; Abrahamsson J; Jahnukainen K; Munthe-Kaas MC; Zeller B; Tamm KP; Cavelier L; Holmfeldt L
• Article: PLOS ONE. 2021;16(2):e0245488

  Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

  Wallander K; Eisfeldt J; Lindblad M; Nilsson D; Billiau K; Foroughi H; Nordenskjold M; Lieden A; Tham E
• Article: NEW ENGLAND JOURNAL OF MEDICINE. 2021;384(5):428-439

  Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

  Dorling L; Carvalho S; Allen J; Gonzalez-Neira A; Luccarini C; Wahlstrom C; Pooley KA; Parsons MT; Fortuno C; Wang Q; Bolla MK; Dennis J; Keeman R; Alonso MR; Alvarez N; Herraez B; Fernandez V; Nunez-Torres R; Osorio A; Valcich J; Li M; Torngren T; Harrington PA; Baynes C; Conroy DM; Decker B; Fachal L; Mavaddat N; Ahearn T; Aittomaki K; Antonenkova NN; Arnold N; Arveux P; Ausems MGEM; Auvinen P; Becher H; Beckmann MW; Behrens S; Bermisheva M; Bialkowska K; Blomqvist C; Bogdanova NV; Bogdanova-Markov N; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brauch H; Bremer M; Briceno I; Bruning T; Burwinkel B; Cameron DA; Camp NJ; Campbell A; Carracedo A; Castelao JE; Cessna MH; Chanock SJ; Christiansen H; Collee JM; Cordina-Duverger E; Cornelissen S; Czene K; Doerk T; Ekici AB; Engel C; Eriksson M; Fasching PA; Figueroa J; Flyger H; Foersti A; Gabrielson M; Gago-Dominguez M; Georgoulias V; Gil F; Giles GG; Glendon G; Garcia EBG; Alnaes GIG; Guenel P; Hadjisavvas A; Haeberle L; Hahnen E; Hall P; Hamann U; Harkness EF; Hartikainen JM; Hartman M; He W; Heemskerk-Gerritsen BAM; Hillemanns P; Hogervorst FBL; Hollestelle A; Ho WK; Hooning MJ; Howell A; Humphreys K; Idris F; Jakubowska A; Jung A; Kapoor PM; Kerin MJ; Khusnutdinova E; Kim S-W; Ko Y-D; Kosma V-M; Kristensen VN; Kyriacou K; Lakeman IMM; Lee JW; Lee MH; Li J; Lindblom A; Lo W-Y; Loizidou MA; Lophatananon A; Lubinski J; MacInnis RJ; Madsen MJ; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Maurer T; Mavroudis D; McLean C; Meindl A; Mensenkamp AR; Michailidou K; Miller N; Taib NAM; Muir K; Mulligan AM; Nevanlinna H; Newman WG; Nordestgaard BG; Ng P-S; Oosterwijk JC; Park SK; Park-Simon T-W; Perez JIA; Peterlongo P; Porteous DJ; Prajzendanc K; Prokofyeva D; Radice P; Rashid MU; Rhenius V; Rookus MA; Rudiger T; Saloustros E; Sawyer EJ; Schmutzler RK; Schneeweiss A; Schurmann P; Shah M; Sohn C; Southey MC; Surowy H; Suvanto M; Thanasitthichai S; Tomlinson I; Torres D; Truong T; Tzardi M; Valova Y; van Asperen CJ; Van Dam RM; van den Ouweland AMW; van der Kolk LE; van Veen EM; Wendt C; Williams JA; Yang XR; Yoon S-Y; Zamora MP; Evans DG; de la Hoya M; Simard J; Antoniou AC; Borg A; Andrulis IL; Chang-Claude J; Garcia-Closas M; Chenevix-Trench G; Milne RL; Pharoah PDP; Schmidt MK; Spurdle AB; Vreeswijk MPG; Benitez J; Dunning AM; Kvist A; Teo SH; Devilee P; Easton DF
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(2):517-527

  Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

  Botto LD; Meeths M; Campos-Xavier B; Bergamaschi R; Mazzanti L; Scarano E; Finocchi A; Cancrini C; Zirn B; Kuehnle I; Kramm CM; Alanay Y; Jones WD; Irving M; Sabir A; Henter J-I; Borgstrom B; Nordgren A; Hammarsjo A; Putti C; Mozzato C; Zuccarello D; Nishimura G; Bonafe L; Grigelioniene G; Unger S; Superti-Furga A
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2021;106(2):e739-e748

  Early Detection of Abnormal Growth Associated with Juvenile Acquired Hypothyroidism

  Saari A; Pokka J; Makitie O; Saha M-T; Dunkel L; Sankilampi U
• Review: FRONTIERS IN IMMUNOLOGY. 2021;11:612244

  T Cells in Chronic Lymphocytic Leukemia: A Two-Edged Sword

  Vlachonikola E; Stamatopoulos K; Chatzidimitriou A
• Article: INTERNATIONAL JOURNAL OF CANCER. 2021;148(2):307-319

  Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

  Kho P-F; Amant F; Annibali D; Ashton K; Attia J; Auer PL; Beckmann MW; Black A; Brinton L; Buchanan DD; Chanock SJ; Chen C; Chen MM; Cheng THT; Cook LS; Crous-Bous M; Czene K; De Vivo I; Dennis J; Doerk T; Dowdy SC; Dunning AM; Duerst M; Easton DF; Ekici AB; Fasching PA; Fridley BL; Friedenreich CM; Garcia-Closas M; Gaudet MM; Giles GG; Goode EL; Gorman M; Haiman CA; Hall P; Hankinson SE; Hein A; Hillemanns P; Hodgson S; Hoivik EA; Holliday EG; Hunter DJ; Jones A; Kraft P; Krakstad C; Lambrechts D; Le Marchand L; Liang X; Lindblom A; Lissowska J; Long J; Lu L; Magliocco AM; Martin L; McEvoy M; Milne RL; Mints M; Nassir R; Otton G; Palles C; Pooler L; Proietto T; Rebbeck TR; Renner SP; Risch HA; Ruebner M; Runnebaum I; Sacerdote C; Sarto GE; Schumacher F; Scott RJ; Setiawan VW; Shah M; Sheng X; Shu X-O; Southey MC; Tham E; Tomlinson I; Trovik J; Turman C; Tyrer JP; van den Berg D; Wang Z; Wentzensen N; Xia L; Xiang Y-B; Yang HP; Yu H; Zheng W; Webb PM; Thompson DJ; Spurdle AB; Glubb DM; O'Mara TA
• Preprint: MEDRXIV. 2021

  Genetic insights into the biological mechanisms governing human ovarian ageing

  Ruth K; Day F; Hussain J; Martínez-Marchal A; Aiken C; Azad A; Thompson D; Abe H; Tarry-Adkins J; Gonzalez JM; Claringbould A; Bakker O; Sulem P; Turon S; Onland-Moret C; Hertz EPT; Timshel P; Shukla V; Borup R; Olsen K; Ferrer-Roda M; Huang Y; Stankovic S; Timmers PRHJ; Ahearn T; Alizadeh B; Naderi E; Andrulis I; Arnold A; Aronson K; Augustinsson A; Bandinelli S; Barbieri C; Beaumont R; Becher H; Beckmann M; Benonisdottir S; Bergmann S; Bochud M; Boerwinkle E; Bojesen S; Bolla M; Boomsma D; Bowker N; Brody J; Broer L; Buring J; Campbell A; Campbell H; Castelao J; Catamo E; Chanock S; Chenevix-Trench G; Ciullo M; Corre T; Couch F; Cox A; Cross S; Cucca F; Czene K; Davey-Smith G; de Geus EJCN; de Mutsert R; Vivo ID; Demerath E; Dennis J; Dunning A; Dwek M; Eriksson M; Esko T; Fasching P; Faul J; Ferrucci L; Franceschini N; Frayling T; Gago-Dominguez M; Mezzavilla M; García-Closas M; Gieger C; Giles G; Grallert H; Gudbjartsson D; Gudnason V; Guénel P; Haiman C; Håkansson N; Hall P; Hayward C; He C; He W; Heiss G; Høffding M; Hopper J; Hottenga J; Hu F; Hunter D; Ikram M; Jackson R; Joaquim MDR; John E; Joshi P; Karasik D; Kardia SLR; Karlsson R; Kitahara C; Kolcic I; Kooperberg C; Kraft P; Kurian A; Kutalik Z; Bianca ML; LaChance G; Langenberg C; Launer L; Laven JSE; Lawlor D; Marchand LL; Li J; Lindblom A; Lindstrom S; Lindstrom T; Linet M; Liu Y; Liu S; Luan J; Mägi R; Magnusson PKE; Mangino M; Mannermaa A; Marco B; Marten J; Martin N; Mbarek H; McKnight B; Medland S; Meisinger C; Meitinger T; Menni C; Metspalu A; Milani L; Milne R; Montgomery G; Mook-Kanamori D; Mulas A; Mulligan A; Murray A; Nalls M; Newman A; Noordam R; Nutile T; Nyholt D; Olshan A; Olsson H; Painter J; Patel A; Pedersen N; Perjakova N; Peters A; Peters U; Pharoah PDP; Polasek O; Porcu E; Psaty B; Rahman I; Rennert G; Rennert H; Ridker P; Ring S; Robino A; Rose L; Rosendaal F; Rossouw J; Rudan I; Rueedi R; Ruggiero D; Sala C; Saloustros E; Sandler D; Sanna S; Sawyer E; Sarnowski C; Schlessinger D; Schmidt M; Schoemaker M; Schraut K; Scott C; Shekari S; Shrikhande A; Smith A; Smith B; Smith J; Sorice R; Southey M; Spector T; Spinelli J; Stampfer M; Stöckl D; van Meurs JBJ; Strauch K; Styrkarsdottir U; Swerdlow A; Tanaka T; Teras L; Teumer A; Þorsteinsdottir U; Timpson N; Toniolo D; Traglia M; Troester M; Truong T; Tyrrell J; Uitterlinden A; Ulivi S; Vachon C; Vitart V; Völker U; Vollenweider P; Völzke H; Wang Q; Wareham N; Weinberg C; Weir D; Wilcox A; Dijk KWV; Willemsen G; Wilson J; Wolffenbuttel BHR; Wolk A; Wood A; Zhao W; Zygmunt M; Biobank-based Integrative Omics Study (BIOS) Conso; eQTLGen Consortiu
• Article: CANCERS. 2021;13(2):285

  The Calcitriol/Vitamin D Receptor System Regulates Key Immune Signaling Pathways in Chronic Lymphocytic Leukemia

  Gerousi M; Psomopoulos F; Kotta K; Tsagiopoulou M; Stavroyianni N; Anagnostopoulos A; Anastasiadis A; Gkanidou M; Kotsianidis I; Ntoufa S; Stamatopoulos K
• Published conference paper: BLOOD. 2021;137(2):216-231

  Triggering interferon signaling in T cells with avadomide sensitizes CLL to anti-PD-L1 /PD-1 immunotherapy

  Ioannou N; Hagner PR; Stokes M; Gandhi AK; Apollonio B; Fanous M; Papazoglou D; Sutton L-A; Rosenquist R; Amini R-M; Chiu H; Lopez-Girona A; Janardhanan P; Awan FT; Jones J; Kay NE; Shanafelt TD; Tallman MS; Stamatopoulos K; Patten PEM; Vardi A; Ramsay AG
• Article: BLOOD ADVANCES. 2021;5(1):129-142

  Modulation of IL-6/STAT3 signaling axis in CD4+FOXP3- T cells represents a potential antitumor mechanism of azacitidine.

  Lamprianidou E; Kordella C; Kazachenka A; Zoulia E; Bernard E; Filia A; Laidou S; Garantziotis P; Vassilakopoulos TP; Papageorgiou SG; Pappa V; Galanopoulos AG; Viniou N; Nakou E; Kalafati L; Chatzidimitriou A; Kassiotis G; Papaemmanuil E; Mitroulis I; Kotsianidis I
• Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):61

  Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta: a prospective pilot study

  Arponen H; Bachour A; Back L; Valta H; Makitie A; Makitie O; Waltimo-Siren J
• Article: COMMUNICATIONS BIOLOGY. 2021;4(1):57

  The spatial RNA integrity number assay for in situ evaluation of transcriptome quality

  Kvastad L; Carlberg K; Larsson L; Villacampa EG; Stuckey A; Stenbeck L; Mollbrink A; Zamboni M; Magnusson JP; Basmaci E; Shamikh A; Prochazka G; Schaupp A-L; Borg A; Fugger L; Nister M; Lundeberg J
• Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):31

  Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

  Yasin S; Makitie O; Naz S
• Article: HAEMATOLOGICA. 2021;106(1):87-97

  Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multicenter study

  Leeksma AC; Baliakas P; Moysiadis T; Puiggros A; Plevova K; van der Kevie-Kersemaekers A-M; Posthuma H; Rodriguez-Vicente AE; Tran AN; Barbany G; Mansouri L; Gunnarsson R; Parker H; van den Berg E; Bellido M; Davis Z; Wall M; Scarpelli I; Osterborg A; Hansson L; Jarosova M; Ghia P; Poddighe P; Espinet B; Pospisilova S; Tam C; Ysebaert L; Nguyen-Khac F; Oscier D; Haferlach C; Schoumans J; Stevens-Kroef M; Eldering E; Stamatopoulos K; Rosenquist R; Strefford JC; Mellink C; Kater AP
• Article: HUMAN MUTATION. 2021;42(1):89-101

  Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

  Ain NU; Muhammad N; Dianatpour M; Baroncelli M; Iqbal M; Fard MAF; Bukhari I; Ahmed S; Hajipour M; Tabatabaie Z; Foroutan H; Nilsson O; Faghihi MA; Makitie O; Naz S
• Published conference paper: RADIOGRAPHICS. 2021;41(1):192-209

  Radiologic Features of Type II and Type XI Collagenopathies

  Handa A; Grigelioniene G; Nishimura G
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(1):112-118

  A new family with epiphyseal chondrodysplasia type Miura

  Kenis V; Melchenko E; Mazunin I; Pekkinen M; Makitie O
• Article: BMC MEDICINE. 2020;18(1):396

  Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

  Bull CJ; Bell JA; Murphy N; Sanderson E; Davey Smith G; Timpson NJ; Banbury BL; Albanes D; Berndt SI; Bezieau S; Bishop DT; Brenner H; Buchanan DD; Burnett-Hartman A; Casey G; Castellvi-Bel S; Chan AT; Chang-Claude J; Cross AJ; de la Chapelle A; Figueiredo JC; Gallinger SJ; Gapstur SM; Giles GG; Gruber SB; Gsur A; Hampe J; Hampel H; Harrison TA; Hoffmeister M; Hsu L; Huang W-Y; Huyghe JR; Jenkins MA; Joshu CE; Keku TO; Kuhn T; Kweon S-S; Le Marchand L; Li CI; Li L; Lindblom A; Martin V; May AM; Milne RL; Moreno V; Newcomb PA; Offit K; Ogino S; Phipps AI; Platz EA; Potter JD; Qu C; Quiros JR; Rennert G; Riboli E; Sakoda LC; Schafmayer C; Schoen RE; Slattery ML; Tangen CM; Tsilidis KK; Ulrich CM; van Duijnhoven FJB; van Guelpen B; Visvanathan K; Vodicka P; Vodickova L; Wang H; White E; Wolk A; Woods MO; Wu AH; Campbell PT; Zheng W; Peters U; Vincent EE; Gunter MJ
• Article: INTERNATIONAL JOURNAL OF CARDIOLOGY. 2020;321:137-142

  Associations of global DNA methylation and homocysteine levels with abdominal aortic aneurysm: A cohort study from a population-based screening program in Sweden

  Vats S; Sundquist K; Wang X; Zarrouk M; Agren-Witteschus S; Sundquist J; Gottsater A; Memon AA
• Article: CUREUS. 2020;12(12):e12020

  GAPDH and PUM1: Optimal Housekeeping Genes for Quantitative Polymerase Chain Reaction-Based Analysis of Cancer Stem Cells and Epithelial-Mesenchymal Transition Gene Expression in Rectal Tumors.

  Vermani L; Kumar R; Senthil Kumar N
• Article: BMC MUSCULOSKELETAL DISORDERS. 2020;21(1):808

  Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study

  Hyvonen H; Anttila H; Tallqvist S; Munoz M; Leppajoki-Tiistola S; Teittinen A; Makitie O; Hiekkala S
• Article: BIORESEARCH OPEN ACCESS. 2020;9(1):269-278

  Characterization of Laminins in Healthy Human Aortic Valves and a Modified Decellularized Rat Scaffold

  Granath C; Noren H; Bjorck H; Simon N; Olesen K; Rodin S; Grinnemol K-H; Osterholm C
• Article: NEUROLOGY-GENETICS. 2020;6(6):e526

  Heterozygous variants in DCC: Beyond congenital mirror movements

  Thams S; Islam M; Lindefeldt M; Nordgren A; Granberg T; Tesi B; Barbany G; Nilsson D; Paucar M
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1653-1664

  Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants

  Hauta-alus HH; Holmlund-Suila EM; Valkama SM; Enlund-Cerullo M; Rosendahl J; Coghlan RF; Andersson S; Makitie O
• Letter: HAEMATOLOGICA. 2020;105(12):2864-2867

  Chronic lymphocytic leukemias with trisomy 12 show a distinct DNA methylation profile linked to altered chromatin activation

  Tsagiopoulou M; Chapaprieta V; Duran-Ferrer M; Moysiadi T; Psomopoulos F; Kollia P; Papakonstantinou N; Campo E; Stamatopoulos K; Martin-Subero JI
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(5):901-912

  Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23

  Makitie RE; Kampe A; Costantini A; Alm JJ; Magnusson P; Makitie O
• Article: PEDIATRIC RESEARCH. 2020;88(6):903-909

  Hematopoietic cellular aging is not accelerated during the first 2 years of life in children born preterm

  Henckel E; Landfors M; Haider Z; Kosma P; Hultdin M; Degerman S; Bohlin K
• Article: BONE. 2020;141:115670

  Peripheral quantitative computed tomography (pQCT) in 12-and 24-month-old children - Practical aspects and descriptive data

  Valkama S; Holmlund-Suila E; Ireland A; Hauta-alus H; Enlund-Cerullo M; Rosendahl J; Andersson S; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;36(2):283-297

  NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

  Costantini A; Alm JJ; Tonelli F; Valta H; Huber C; Tran AN; Daponte V; Kirova N; Kwon Y-U; Bae JY; Chung WY; Tan S; Sznajer Y; Nishimura G; Nareoja T; Warren AJ; Cormier-Daire V; Kim O-H; Forlino A; Cho T-J; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(12):2381-2392

  Exome Sequencing Reveals a Phenotype Modifying Variant inZNF528in Primary Osteoporosis With aCOL1A2Deletion

  Skarp S; Xia J-H; Zhang Q; Loija M; Costantini A; Ruddock LW; Makitie O; Wei G-H; Mannikko M
• Review: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(2):229-247

  High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

  Bergen DJM; Maurizi A; Formosa MM; McDonald GLK; El-Gazzar A; Hassan N; Brandi M-L; Riancho JA; Rivadeneira F; Ntzani E; Duncan EL; Gregson CL; Kiel DP; Zillikens MC; Sangiorgi L; Hogler W; Duran I; Makitie O; Van Hul W; Hendrickx G
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(5):875-882

  Increased Burden of Common Risk Alleles in Children With a Significant Fracture History

  Manousaki D; Kampe A; Forgetta V; Makitie RE; Bardai G; Belisle A; Li R; Andersson S; Makitie O; Rauch F; Richards JB
• Editorial: EBIOMEDICINE. 2020;62:103091

  Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

  Grigelioniene G; Nishimura G
• Article: BONE. 2020;141:115629

  Fibroblast growth factor 23 concentrations and modifying factors in children from age 12 to 24 months

  Enlund-Cerullo M; Hauta-alus H; Valkama S; Rosendahl J; Andersson S; Maekitie O; Holmlund-Suila E
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2020;105(6):779-785

  Concordance in survival among first-degree relatives diagnosed with indolent lymphoid malignancies including chronic lymphocytic leukemia

  Baecklund F; Ekberg S; Rosenquist R; Askling J; Eloranta S; Smedby KE
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(1):12-20

  An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia

  Aljuraibah F; Bacchetta J; Brandi ML; Florenzano P; Javaid MK; Makitie O; Raimann A; Rodriguez M; Siggelkow H; Tiosano D; Vervloet M; Wagner CA
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706

  Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

  Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
• Review: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1623-1641

  Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

  Costantini A; Makitie RE; Hartmann MA; Fratzl-Zelman N; Zillikens MC; Kornak U; Soe K; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1642-1652

  Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

  Reilly ML; ul Ain N; Muurinen M; Tata A; Huber C; Simon M; Ishaq T; Shaw N; Rusanen S; Pekkinen M; Hogler W; Knapen MFCM; van den Born M; Saunier S; Naz S; Cormier-Daire V; Benmerah A; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(10):1962-1973

  Unique, Gender-Dependent SerummicroRNAProfile inPLS3Gene-Related Osteoporosis

  Makitie RE; Hackl M; Weigl M; Frischer A; Kampe A; Costantini A; Grillari J; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(2):226-235

  SLC4A2 Deficiency Causes a New Type of Osteopetrosis

  Xue J-Y; Grigelioniene G; Wang Z; Nishimura G; Iida A; Matsumoto N; Tham E; Miyake N; Ikegawa S; Guo L
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254

  Increased yield of genetic diagnoses in skeletal ciliopathies using massively parallel sequencing, structural variant and RNA analyses

  Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53

  Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities

  Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):284

  Clonal occurrence of the Hutchinson-Gilford progeria syndrome lamin A mutation in chronic kidney disease

  Revechon G; Helgadottir H; Viceconte N; Witasp A; Carvajal AS; Whisenant D; McGuinness D; Artiach G; Arzt EW; Thorell A; Babler A; Ziegler S; Kramann R; Back M; Shiels PG; Wernerson A; Stenvinkel P; Eriksson M
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463

  Non-mosaic germline cancer hotspot mutation p. Ser1344Leu in the RNase IIIa domain of DICER1 causes a GLOW syndrome-like phenotype

  Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
• Review: CURRENT ONCOLOGY REPORTS. 2020;23(1):5

  Vitamin D in Head and Neck Cancer: a Systematic Review

  Makitie A; Tuokkola I; Laurell G; Makitie O; Olsen K; Takes RP; Florek E; Szyfter K; Sier CFM; Ferlito A
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):326

  Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

  Holopainen E; Vakkilainen S; Makitie O
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2020;107(5):837-848

  Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

  Kramer I; Hooning MJ; Mavaddat N; Hauptmann M; Keeman R; Steyerberg EW; Giardiello D; Antoniou AC; Pharoah PDP; Canisius S; Abu-Ful Z; Andrulis IL; Anton-Culver H; Aronson KJ; Augustinsson A; Becher H; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bogdanova NV; Bojesen SE; Bolla MK; Bonanni B; Brauch H; Bremer M; Brucker SY; Burwinkel B; Castelao JE; Chan TL; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Choi J-Y; Clarke CL; Collee JM; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Dork T; dos-Santos-Silva I; Dunning AM; Dwek M; Eccles DM; Evans DG; Fasching PA; Flyger H; Gago-Dominguez M; Garcia-Closas M; Garcia-Saenz JA; Giles GG; Goldgar DE; Gonzalez-Neira A; Haiman CA; Hakansson N; Hamann U; Hartman M; Heemskerk-Gerritsen BAM; Hollestelle A; Hopper JL; Hou M-F; Howell A; Ito H; Jakimovska M; Jakubowska A; Janni W; John EM; Jung A; Kang D; Kets CM; Khusnutdinova E; Ko Y-D; Kristensen VN; Kurian AW; Kwong A; Lambrechts D; Le Marchand L; Li J; Lindblom A; Lubinski J; Mannermaa A; Manoochehri M; Margolin S; Matsuo K; Mavroudis D; Meindl A; Milne RL; Mulligan AM; Muranen TA; Neuhausen SL; Nevanlinna H; Newman WG; Olshan AF; Olson JE; Olsson H; Park-Simon T-W; Peto J; Petridis C; Plaseska-Karanfilska D; Presneau N; Pylkas K; Radice P; Rennert G; Romero A; Roylance R; Saloustros E; Sawyer EJ; Schmutzler RK; Schwentner L; Scott C; See M-H; Shah M; Shen C-Y; Shu X-O; Siesling S; Slager S; Sohn C; Southey MC; Spinelli JJ; Stone J; Tapper WJ; Tengstrom M; Teo SH; Terry MB; Tollenaar RAEM; Tomlinson I; Troester MA; Vachon CM; van Ongeval C; van Veen EM; Winqvist R; Wolk A; Zheng W; Ziogas A; Easton DF; Hall P; Schmidt MK
• Article: HAEMATOLOGICA. 2020;105(11):2598-2607

  Prognostic impact of prevalent chronic lymphocytic leukemia stereotyped subsets: analysis within prospective clinical trials of the German CLL Study Group

  Jaramillo S; Agathangelidis A; Schneider C; Bahlo J; Robrecht S; Tausch E; Bloehdorn J; Hoechstetter M; Fischer K; Eichhorst B; Goede V; Hallek M; Doehner H; Rosenquist R; Ghia P; Stamatopoulos K; Stilgenbauer S
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2020;183(5):513-520

  Pubertal development and premature ovarian insufficiency in patients with APECED

  Saari V; Holopainen E; Makitie O; Laakso S
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2020;191(3):426-432

  Risk-adapted bendamustine plus rituximab is a tolerable treatment alternative for elderly patients with chronic lymphocytic leukaemia: a regional real-world report on 141 consecutive Swedish patients

  Mattsson A; Sylvan SE; Asklid A; Wiggh J; Winqvist M; Lundin J; Mansouri L; Rosenquist R; Johansson H; Osterborg A; Hansson L
• Article: JOURNAL OF WOMENS HEALTH. 2020;29(11):1447-1456

  Acceptability of Self-Sampling for Human Papillomavirus-Based Cervical Cancer Screening

  Chatzistamatiou K; Vrekoussis T; Tsertanidou A; Moysiadis T; Mouchtaropoulou E; Pasentsis K; Kitsou A; Moschaki V; Ntoula M; Zempili P; Halatsi D; Truva T; Piha V; Agelena G; Daponte A; Vanakara P; Paschopoulos M; Stefos T; Lymberis V; Kontomanolis EN; Makrigiannakis A; Deligeoroglou E; Panoskaltsis T; Adonakis G; Michail G; Stamatopoulos K; Agorastos T
• Journal article: 2020

  Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

  A K; M E-C; S V; E H-S; J R; H H-A; M P; S A; O M
• Article: HGG ADVANCES. 2020;1(1):100010

  Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis

  Jarvik GP; Wang X; Fontanillas P; Kim E; Chanprasert S; Gordon AS; Bastarache L; Kowdley KV; Harrison T; Rosenthal EA; Stanaway IB; Bezieau S; Weinstein SJ; Newcomb PA; Casey G; Platz EA; Visvanathan K; Le Marchand L; Ulrich CM; Hardikar S; Li CI; van Duijnhoven FJB; Gsur A; Campbell PT; Moreno V; Vodicka P; Brenner H; Chang-Claude J; Hoffmeister M; Slattery ML; Gunter MJ; Aglago EK; Castellvi-Bel S; Kweon S-S; Chan AT; Li L; Zheng W; Bishop DT; Giles GG; Rennert G; Offit K; Keku TO; Woods MO; Hampe J; Van Guelpen B; Gallinger SJ; de la Chapelle A; Hampel H; Berndt SI; Tangen CM; Lindblom A; Wolk A; Burnett-Hartman A; Wu AH; White E; Gruber SB; Jenkins MA; Mountain J; Peters U; Crosslin DR
• Letter: AMERICAN JOURNAL OF HEMATOLOGY. 2020;95(10):E287-E289

  Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome.

  Amini R-M; Ljungström V; Abdulla M; Cavelier L; Pandzic T; Hollander P; Enblad G; Baliakas P
• Editorial: HEMASPHERE. 2020;4(5):e425

  Challenges and Solutions for Collecting and Analyzing Real World Data: The Eric CLL Database as an Illustrative Example

  Chatzidimitriou A; Minga E; Chatzikonstantinou T; Moreno C; Stamatopoulos K; Ghia P
• Letter: HAEMATOLOGICA. 2020;105(10):e515

  High-throughput analysis of the T cell receptor gene repertoire in low-count monoclonal B cell lymphocytosis reveals a distinct profile from chronic lymphocytic leukemia.

  Agathangelidis A; Galigalidou C; Scarfò L; Moysiadis T; Rovida A; Vlachonikola E; Sofou E; Psomopoulos F; Vardi A; Ranghetti P; Siorenta A; Galanis A; Stamatopoulos K; Chatzidimitriou A; Ghia P
• Article: ACTA PAEDIATRICA. 2020;109(10):2067-2074

  Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

  Gkourogianni A; Andrade AC; Jonsson B-A; Segerlund E; Werner-Sperker A; Horemuzova E; Dahlgren J; Burstedt M; Nilsson O
• Review: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2020;92(4):e12913

  Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management

  Vakkilainen S; Taskinen M; Makitie O
• Article: GENETICS IN MEDICINE. 2020;22(10):1653-1666

  Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

  Barnes DR; Rookus MA; McGuffog L; Leslie G; Mooij TM; Dennis J; Mavaddat N; Adlard J; Ahmed M; Aittomaki K; Andrieu N; Andrulis IL; Arnold N; Arun BK; Azzollini J; Balmana J; Barkardottir RB; Barrowdale D; Benitez J; Berthet P; Bialkowska K; Blanco AM; Blok MJ; Bonanni B; Boonen SE; Borg A; Bozsik A; Bradbury AR; Brennan P; Brewer C; Brunet J; Buys SS; Caldes T; Caligo MA; Campbell I; Christensen LL; Chung WK; Claes KBM; Colas C; Collonge-Rame M-A; Cook J; Daly MB; Davidson R; de la Hoya M; de Putter R; Delnatte C; Devilee P; Diez O; Ding YC; Domchek SM; Dorfling CM; Dumont M; Eeles R; Ejlertsen B; Engel C; Evans DG; Faivre L; Foretova L; Fostira F; Friedlander M; Friedman E; Frost D; Ganz PA; Garber J; Gehrig A; Gerdes A-M; Gesta P; Giraud S; Glendon G; Godwin AK; Goldgar DE; Gonzalez-Neira A; Greene MH; Gschwantler-Kaulich D; Hahnen E; Hamann U; Hanson H; Hentschel J; Hogervorst FBL; Hooning MJ; Horvath J; Hu C; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Izquierdo A; Jakubowska A; James PA; Janavicius R; John EM; Joseph V; Karlan BY; Kast K; Koudijs M; Kruse TA; Kwong A; Laitman Y; Lasset C; Lazaro C; Lester J; Lesueur F; Liljegren A; Loud JT; Lubinski J; Mai PL; Manoukian S; Mari V; Mebirouk N; Meijers-Heijboer HEJ; Meindl A; Mensenkamp AR; Miller A; Montagna M; Mouret-Fourme E; Mukherjee S; Mulligan AM; Nathanson KL; Neuhausen SL; Nevanlinna H; Niederacher D; Nielsen FC; Nikitina-Zake L; Nogues C; Olah E; Olopade OI; Ong K-R; O'Shaughnessy-Kirwan A; Osorio A; Ott C-E; Papi L; Park SK; Parsons MT; Pedersen IS; Peissel B; Peixoto A; Peterlongo P; Pfeiler G; Phillips K-A; Prajzendanc K; Pujana MA; Radice P; Ramser J; Ramus SJ; Rantala J; Rennert G; Risch HA; Robson M; Ronlund K; Salani R; Schuster H; Senter L; Shah PD; Sharma P; Side LE; Singer CF; Slavin TP; Soucy P; Southey MC; Spurdle AB; Steinemann D; Steinsnyder Z; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teo SH; Thull DL; Tischkowitz M; Tognazzo S; Toland AE; Trainer AH; Tung N; van Engelen K; van Rensburg EJ; Vega A; Vierstraete J; Wagner G; Walker L; Wang-Gohrke S; Wappenschmidt B; Weitzel JN; Yadav S; Yang X; Yannoukakos D; Zimbalatti D; Offit K; Thomassen M; Couch FJ; Schmutzler RK; Simard J; Easton DF; Chenevix-Trench G; Antoniou AC
• Article: LEUKEMIA. 2020;34(10):2545-2551

  Immunoglobulin gene analysis in chronic lymphocytic leukemia in the era of next generation sequencing

  Davi F; Langerak AW; de Septenville AL; Kolijn PM; Hengeveld PJ; Chatzidimitriou A; Bonfiglio S; Sutton L-A; Rosenquist R; Ghia P; Stamatopoulos K
• Journal article: BONE REPORTS. 2020;13:100337

  Unique serum microRNA profile in monogenic osteoporosis caused by PLS3 mutations

  Mäkitie R; Hackl M; Weigl M; Kämpe A; Costantini A; Grillari J; Mäkitie O
• Journal article: BONE REPORTS. 2020;13:100647

  Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

  Costantini A; Alm JJ; Tonelli F; Valta H; Huber C; Tran AN; Daponte V; Kirova N; Kwon Y-U; Bae JY; Chung WY; Tan S; Sznajer Y; Nishimura; Näreoja T; Warren AJ; Cormier-Daire V; Kim O-H; Forlino A; Cho T-J; Mäkitie O
• Article: BIOMARKERS IN MEDICINE. 2020;14(14):1371-1382

  Expression pattern of ALDH1, E-cadherin, Vimentin and Twist in early and late onset sporadic colorectal cancer.

  Vermani L; Kumar R; Kannan RR; Deka MK; Talukdar A; Kumar NS
• Article: BMC BIOINFORMATICS. 2020;21(1):422

  TRIP - T cell receptor/immunoglobulin profiler

  Kotouza MT; Gemenetzi K; Galigalidou C; Vlachonikola E; Pechlivanis N; Agathangelidis A; Sandaltzopoulos R; Mitkas PA; Stamatopoulos K; Chatzidimitriou A; Psomopoulos FE
• Article: NEW BIOTECHNOLOGY. 2020;58:45-54

  High throughput generation of a resource of the human secretome in mammalian cells

  Tegel H; Dannemeyer M; Kanje S; Sivertssore A; Berling A; Svensson A-S; Hober A; Enstedt H; Volk A-L; Lundqvist M; Moradi M; Afshari D; Ekblad S; Xu L; Westin M; Bidad F; Schiavone LH; Davies R; Mayr LM; Knight S; Gopel SO; Voldborg BG; Edfors F; Forsstrom B; von Feilitzen K; Zwahlen M; Rockberg J; Takanen JO; Uhlen M; Hober S
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2020;18(1):18

  Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

  Andersson A; Hawranek C; Ofverholm A; Ehrencrona H; Grill K; Hajdarevic S; Melin B; Tham E; Hellquist BN; Rosen A
• Article: CLINICAL CANCER RESEARCH. 2020;26(18):4958-4969

  T-Cell Dynamics in Chronic Lymphocytic Leukemia under Different Treatment Modalities

  Vardi A; Vlachonikola E; Papazoglou D; Psomopoulos F; Kotta K; Ioannou N; Galigalidou C; Gemenetzi K; Pasentsis K; Kotouza M; Koravou E; Scarfo L; Iskas M; Stavroyianni N; Ghia P; Anagnostopoulos A; Kouvatsi A; Ramsay AG; Stamatopoulos K; Chatzidimitriou A
• Article: BMC MEDICINE. 2020;18(1):229

  Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

  Seyed Khoei N; Jenab M; Murphy N; Banbury BL; Carreras-Torres R; Viallon V; Kuehn T; Bueno-de-Mesquita B; Aleksandrova K; Cross AJ; Weiderpass E; Stepien M; Bulmer A; Tjonneland A; Boutron-Ruault M-C; Severi G; Carbonnel F; Katzke V; Boeing H; Bergmann MM; Trichopoulou A; Karakatsani A; Martimianaki G; Palli D; Tagliabue G; Panico S; Tumino R; Sacerdote C; Skeie G; Merino S; Bonet C; Rodriguez-Barranco M; Gil L; Chirlaque M-D; Ardanaz E; Myte R; Hultdin J; Perez-Cornago A; Aune D; Tsilidis K; Albanes; Baron JA; Berndt SI; Bezieau S; Brenner H; Campbell PT; Casey G; Chan AT; Chang-Claude J; Chanock SJ; Cotterchio M; Gallinger S; Gruber SB; Haile RW; Hampe J; Hoffmeister M; Hopper JL; Hsu L; Huyghe JR; Jenkins MA; Joshi AD; Kampman E; Larsson SC; Le Marchand L; Li CI; Li L; Lindblom A; Lindor NM; Martin V; Moreno V; Newcomb PA; Offit K; Ogino S; Parfrey PS; Pharoah PDP; Rennert G; Sakoda LC; Schafmayer C; Schmit SL; Schoen RE; Slattery ML; Thibodeau SN; Ulrich CM; van Duijnhoven FJB; Weigl K; Weinstein SJ; White E; Wolk A; Woods MO; Wu AH; Zhang X; Ferrari P; Anton G; Peters A; Peters U; Gunter MJ; Wagner K-H; Freisling H
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2020;107(3):432-444

  Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

  Thomas M; Sakoda LC; Hoffmeister M; Rosenthal EA; Lee JK; van Duijnhoven FJB; Platz EA; Wu AH; Dampier CH; de la Chapelle A; Wolk A; Joshi AD; Burnett-Hartman A; Gsur A; Lindblom A; Castells A; Win AK; Namjou B; Van Guelpen B; Tangen CM; He Q; Li CI; Schafmayer C; Joshu CE; Ulrich CM; Bishop DT; Buchanan DD; Schaid D; Drew DA; Muller DC; Duggan D; Crosslin DR; Albanes D; Giovannucci EL; Larson E; Qu F; Mentch F; Giles GG; Hakonarson H; Hampel H; Stanaway IB; Figueiredo JC; Huyghe JR; Minnier J; Chang-Claude J; Hampe J; Harley JB; Visvanathan K; Curtis KR; Offit K; Li L; Le Marchand L; Vodickova L; Gunter MJ; Jenkins MA; Slattery ML; Lemire M; Woods MO; Song M; Murphy N; Lindor NM; Dikilitas O; Pharoah PDP; Campbell PT; Newcomb PA; Milne RL; MacInnis RJ; Castellvi-Bel S; Ogino S; Berndt SI; Bezieau S; Thibodeau SN; Gallinger SJ; Zaidi SH; Harrison TA; Keku TO; Hudson TJ; Vymetalkova V; Moreno V; Martin V; Arndt V; Wei W-Q; Chung W; Su Y-R; Hayes RB; White E; Vodicka P; Casey G; Gruber SB; Schoen RE; Chan AT; Potter JD; Brenner H; Jarvik GP; Corley DA; Peters U; Hsu L
• Corrigendum: GENETICS IN MEDICINE. 2020;22(9):1569

  Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (vol 22, pg 15, 2020)

  Dominguez-Valentin M; Sampson JR; Seppala TT; ten Broeke SW; Plazzer J-P; Nakken S; Engel C; Aretz S; Jenkins MA; Sunde L; Bernstein I; Capella G; Balaguer F; Thomas H; Evans DG; Burn J; Greenblatt M; Hovig E; de Vos tot Nederveen Cappel WH; Sijmons RH; Bertario L; Tibiletti MG; Cavestro GM; Lindblom A; Della Valle A; Lopez-Kostner F; Gluck N; Katz LH; Heinimann K; Vaccaro CA; Buttner R; Gorgens H; Holinski-Feder E; Morak M; Holzapfel S; Huneburg R; Knebel Doeberitz MV; Loeffler M; Rahner N; Schackert HK; Steinke-Lange V; Schmiegel W; Vangala D; Pylvanainen K; Renkonen-Sinisalo L; Hopper JL; Win AK; Haile RW; Lindor NM; Gallinger S; Le Marchand L; Newcomb PA; Figueiredo JC; Thibodeau SN; Wadt K; Therkildsen C; Okkels H; Ketabi Z; Moreira L; Sanchez A; Serra-Burriel M; Pineda M; Navarro M; Blanco I; Green K; Lalloo F; Crosbie EJ; Hill J; Denton OG; Frayling IM; Rodland EA; Vasen H; Mints M; Neffa F; Esperon P; Alvarez K; Kariv R; Rosner G; Pinero TA; Gonzalez ML; Kalfayan P; Tjandra D; Winship IM; Macrae F; Moslein G; Mecklin J-P; Nielsen M; Moller P
• Article: CANCER RESEARCH. 2020;80(17):3530-3541

  MTH1 Inhibitor TH588 Disturbs Mitotic Progression and Induces Mitosis-Dependent Accumulation of Genomic 8-oxodG

  Rudd SG; Gad H; Sanjiv K; Amaral N; Hagenkort A; Groth P; Strom CE; Mortusewicz O; Berglund UW; Helleday T
• Preprint: BIORXIV. 2020

  A combined proteomics and Mendelian randomization approach to investigate the effects of aspirin-targeted proteins on colorectal cancer

  Nounu A; Greenhough A; Heesom K; Richmond R; Zheng J; Weinstein S; Albanes D; Baron J; Hopper J; Figueiredo J; Newcomb P; Lindor N; Casey G; Platz E; Le Marchand L; Ulrich C; Li C; van Duijnhoven FJB; Gsur A; Campbell P; Moreno V; Vodicka P; Vodickova L; Brenner H; Chang-Claude J; Hoffmeister M; Sakoda L; Slattery M; Schoen R; Gunter M; Castellví-Bel S; Kim HR; Kweon S-S; Chan A; Li L; Zheng W; Bishop T; Buchanan D; Giles G; Gruber S; Rennert G; Stadler Z; Harrison T; Lin Y; Keku T; Woods M; Schafmayer C; Van Guelpen B; Gallinger S; Hampel H; Berndt S; Pharoah P; Lindblom A; Wolk A; Wu A; White E; Peters U; Drew D; Scherer D; Bermejo JL; Williams A; Relton C
• Article: FRONTIERS IN IMMUNOLOGY. 2020;11:2020

  The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia

  Vakkilainen S; Kleino I; Honkanen J; Salo H; Kainulainen L; Grasbeck M; Kekalainen E; Makitie O; Klemetti P
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2020;63(8):103958

  A novel homozygous missense variant in MATN3 causes spondylo- epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family

  Yasin S; Mustafa S; Ayesha A; Latif M; Hassan M; Faisal M; Makitie O; Iqbal F; Naz S
• Article: GUT. 2020;69(8):1460-1471

  Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer

  Montazeri Z; Li X; Nyiraneza C; Ma X; Timofeeva M; Svinti V; Meng X; He Y; Bo Y; Morgan S; Castellvi-Bel S; Ruiz-Ponte C; Fernandez-Rozadilla C; Carracedo A; Castells A; Bishop T; Buchanan D; Jenkins MA; Keku TO; Lindblom A; van Duijnhoven FJB; Wu A; Farrington SM; Dunlop MG; Campbell H; Theodoratou E; Zheng W; Little J
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2020;63(8):103954

  Biallelic variants in four genes underlying recessive osteogenesis imperfecta

  Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Makitie O; Alfadhel M; Ahmad W; Umair M
• Article: JAMA ONCOLOGY. 2020;6(8):1218-1230

  Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

  Silvestri V; Leslie G; Barnes DR
• Article: CANCERS. 2020;12(8):E2133-2133

  PLEKHS1 Over-Expression is Associated with Metastases and Poor Outcomes in Papillary Thyroid Carcinoma

  Xing X; Mu N; Yuan X; Wang N; Juhlin CC; Straat K; Larsson C; Xu D
• Article: BMC MEDICAL GENOMICS. 2020;13(1):106

  Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.

  Engvall M; Cahill N; Jonsson B-I; Höglund M; Hallböök H; Cavelier L
• Preprint: BIORXIV. 2020

  Genetic variants for head size share genes and pathways with cancer

  Knol MJ; Poot RA; Evans TE; Satizabal CL; Mishra A; van der Auwera S; Duperron M-G; Jian X; Hostettler IC; van Dam-Nolen DHK; Lamballais S; Pawlak MA; Lewis CE; Carrion-Castillo A; van Erp TGM; Reinbold CS; Shin J; Scholz M; Håberg AK; Kämpe A; Li GHY; Avinun R; Atkins JR; Hsu F-C; Amod AR; Lam M; Tsuchida A; Teunissen MWA; Beiser AS; Beyer F; Bis JC; Bos D; Bryan RN; Bülow R; Caspers S; Catheline G; Cecil CAM; Dalvie S; Dartigues J-F; DeCarli C; Enlund-Cerullo M; Ford JM; Franke B; Freedman BI; Friedrich N; Green MJ; Haworth S; Helmer C; Hoffmann P; Homuth G; Ikram MK; Jack CR; Jahanshad N; Jockwitz C; Kamatani Y; Knodt AR; Li S; Lim K; Longstreth WT; Macciardi F; Consortium TCFHAAR; Consortium TENGTM-A; Mäkitie O; Mazoyer B; Medland SE; Miyamoto S; Moebus S; Mosley TH; Muetzel R; Mühleisen TW; Nagata M; Nakahara S; Palmer ND; Pausova Z; Preda A; Quidé Y; Reay WR; Roshchupkin GV; Schmidt R; Schreiner PJ; Setoh K; Shapland CY; Sidney S; St Pourcain B; Stein JL; Tabara Y; Teumer A; Uhlmann A; van der Lugt A; Vernooij MW; Werring DJ; Windham BG; Witte AV; Wittfeld K; Yang Q; Yoshida K; Brunner HG; Le Grand Q; Sim K; Stein DJ; Bowden DW; Cairns MJ; Hariri AR; Cheung C-L; Andersson S; Villringer A; Paus T; Cichon S; Calhoun VD; Crivello F; Launer LJ; White T; Koudstaal PJ; Houlden H; Fornage M; Matsuda F; Grabe HJ; Ikram MA; Debette S; Thompson PM; Seshadri S; Adams HHH
• Article: CLINICAL EPIGENETICS. 2020;12(1):102

  The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

  Russell H; Kedzierska K; Buchanan DD; Thomas R; Tham E; Mints M; Keranen A; Giles GG; Southey MC; Milne RL; Tomlinson I; Church D; Spurdle AB; O'Mara TA; Lewis A
• Article: NUCLEIC ACIDS RESEARCH. 2020;48(W1):W177-W184

  Galaxy HiCExplorer 3: a web server for reproducible Hi-C, capture Hi-C and single-cell Hi-C data analysis, quality control and visualization.

  Wolff J; Rabbani L; Gilsbach R; Richard G; Manke T; Backofen R; Grüning BA
• Article: GENETIC EPIDEMIOLOGY. 2020;44(5):442-468

  Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

  Feng H; Gusev A; Pasaniuc B; Wu L; Long J; Abu-full Z; Aittomaki K; Andrulis IL; Anton-Culver H; Antoniou AC; Arason A; Arndt V; Aronson KJ; Arun BK; Asseryanis E; Auer PL; Azzollini J; Balmana J; Barkardottir RB; Barnes DR; Barrowdale D; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bialkowska K; Blanco A; Blomqvist C; Boeckx B; Bogdanova NV; Bojesen SE; Bolla MK; Bonanni B; Borg A; Brauch H; Brenner H; Briceno I; Broeks A; Bruening T; Burwinkel B; Cai Q; Caldes T; Caligo MA; Campbell I; Canisius S; Campa D; Carter BD; Carter J; Castelao JE; Chang-Claude J; Chanock SJ; Christiansen H; Chung WK; Claes KBM; Clarke CL; Couch FJ; Cox A; Cross SS; Cybulski C; Czene K; Daly MB; de la Hoya M; De Leeneer K; Dennis J; Devilee P; Diez O; Domchek SM; Doerk T; dos-Santos-Silva I; Dunning AM; Dwek M; Eccles DM; Ejlertsen B; Ellberg C; Engel C; Eriksson M; Fasching PA; Fletcher O; Flyger H; Fostira F; Friedman E; Fritschi L; Frost D; Gabrielson M; Ganz PA; Gapstur SM; Garber J; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Giles GG; Glendon G; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Gronwald J; Guenel P; Haiman CA; Hall P; Hamann U; Hake C; He W; Heyworth J; Hogervorst FBL; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Huang G; Hulick PJ; Humphreys K; Imyanitov EN; Isaacs C; Jakimovska M; Jakubowska A; James P; Janavicius R; Jankowitz RC; John EM; Johnson N; Joseph V; Jung A; Karlan BY; Khusnutdinova E; Kiiski J; Konstantopoulou I; Kristensen VN; Laitman Y; Lambrechts D; Lazaro C; Leroux D; Leslie G; Lester J; Lesueur F; Lindor N; Lindstrom S; Lo W-Y; Loud JT; Lubinski J; Makalic E; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martens JWM; Martinez ME; Matricardi L; Maurer T; Mavroudis D; McGuffog L; Meindl A; Menon U; Michailidou K; Kapoor PM; Miller A; Montagna M; Moreno F; Moserle L; Mulligan AM; Muranen TA; Nathanson KL; Neuhausen SL; Nevanlinna H; Nevelsteen I; Nielsen FC; Nikitina-Zake L; Offit K; Olah E; Olopade OI; Olsson H; Osorio A; Papp J; Park-Simon T-W; Parsons MT; Pedersen IS; Peixoto A; Peterlongo P; Peto J; Pharoah PDP; Phillips K-A; Plaseska-Karanfilska D; Poppe B; Pradhan N; Prajzendanc K; Presneau N; Punie K; Pylkas K; Radice P; Rantala J; Rashid MU; Rennert G; Risch HA; Robson M; Romero A; Saloustros E; Sandler DP; Santos C; Sawyer EJ; Schmidt MK; Schmidt DF; Schmutzler RK; Schoemaker MJ; Scott RJ; Sharma P; Shu X-O; Simard J; Singer CF; Skytte A-B; Soucy P; Southey MC; Spinelli JJ; Spurdle AB; Stone J; Swerdlow AJ; Tapper WJ; Taylor JA; Teixeira MR; Terry MB; Teule A; Thomassen M; Thoene K; Thull DL; Tischkowitz M; Toland AE; Tollenaar RAEM; Torres D; Truong T; Tung N; Vachon CM; van Asperen CJ; van den Ouweland AMW; van Rensburg EJ; Vega A; Viel A; Vieiro-Balo P; Wang Q; Wappenschmidt B; Weinberg CR; Weitzel J; Wendt C; Winqvist R; Yang XR; Yannoukakos D; Ziogas A; Milne RL; Easton DF; Chenevix-Trench G; Zheng W; Kraft P; Jiang X
• Letter: AMERICAN JOURNAL OF HEMATOLOGY. 2020;95(7):E163-E166

  Increased frequency of the single nucleotide polymorphism of the DARC/ACKR1 gene associated with ethnic neutropenia in a cohort of European patients with chronic idiopathic neutropenia

  Fragiadaki I; Papadakis S; Sevastaki G; Sfyridaki K; Mavroudi I; Goulielmos GN; Kanellou P; Mortberg A; Hoglund P; Gemenetzi K; Stamatopoulos K; Chatzidimitriou A; Palmblad J; Papadaki HA
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):172

  The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

  Padidela R; Nilsson O; Makitie O; Beck-Nielsen S; Ariceta G; Schnabel D; Brandi ML; Boot A; Levtchenko E; Smyth M; Jandhyala R; Mughal Z
• Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:393

  PLS3Mutations Cause Severe Age and Sex-Related Spinal Pathology

  Makitie RE; Niinimaki T; Suo-Palosaari M; Kampe A; Costantini A; Toiviainen-Salo S; Niinimaki J; Makitie O
• Article: SCIENTIFIC REPORTS. 2020;10(1):9688

  Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

  Liu J; van der Smissen WJCP; Collee JM; Bolla MK; Wang Q; Michailidou K; Dennis J; Ahearn TU; Aittomaki K; Ambrosone CB; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Arnold N; Aronson KJ; Augustinsson A; Auvinen P; Becher H; Beckmann MW; Behrens S; Bermisheva M; Bernstein L; Bogdanova NV; Bogdanova-Markov N; Bojesen SE; Brauch H; Brenner H; Briceno I; Brucker SY; Bruening T; Burwinkel B; Cai Q; Cai H; Campa D; Canzian F; Castelao JE; Chang-Claude J; Chanock SJ; Choi J-Y; Christiaens M; Clarke CL; Couch FJ; Czene K; Daly MB; Devilee P; dos-Santos-Silva I; Dwek M; Eccles DM; Eliassen AH; Fasching PA; Figueroa J; Flyger H; Fritschi L; Gago-Dominguez M; Gapstur SM; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Giles GG; Goldberg MS; Goldgar DE; Guenel P; Haiman CA; Hakansson N; Hall P; Harrington PA; Hart SN; Hartman M; Hillemanns P; Hopper JL; Hou M-F; Hunter DJ; Huo D; Ito H; Iwasaki M; Jakimovska M; Jakubowska A; John EM; Kaaks R; Kang D; Keeman R; Khusnutdinova E; Kim S-W; Kraft P; Kristensen VN; Kurian AW; Le Marchand L; Li J; Lindblom A; Lophatananon A; Luben RN; Lubinski J; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Mariapun S; Matsuo K; Maurer T; Mavroudis D; Meindl A; Menon U; Milne RL; Muir K; Mulligan AM; Neuhausen SL; Nevanlinna H; Offit K; Olopade OI; Olson JE; Olsson H; Orr N; Park SK; Peterlongo P; Peto J; Plaseska-Karanfilska D; Presneau N; Rack B; Rau-Murthy R; Rennert G; Rennert HS; Rhenius V; Romero A; Ruebner M; Saloustros E; Schmutzler RK; Schneeweiss A; Scott C; Shah M; Shen C-Y; Shu X-O; Simard J; Sohn C; Southey MC; Spinelli JJ; Tamimi RM; Tapper WJ; Teo SH; Terry MB; Torres D; Truong T; Untch M; Vachon CM; van Asperen CJ; Wolk A; Yamaji T; Zheng W; Ziogas A; Ziv E; Torres-Mejia G; Doerk T; Swerdlow AJ; Hamann U; Schmidt MK; Dunning AM; Pharoah PDP; Easton DF; Hooning MJ; Martens JWM; Hollestelle A
• Article: LANCET. 2020;395(10240):1855-1863

  Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

  Burn J; Sheth H; Elliott F; Reed L; Macrae F; Mecklin J-P; Moeslein G; McRonald FE; Bertario L; Evans DG; Gerdes A-M; Ho JWC; Lindblom A; Morrison PJ; Rashbass J; Ramesar R; Seppala T; Thomas HJW; Pylvanainen K; Borthwick GM; Mathers JC; Bishop DT
• Preprint: AUTHOREA. 2020

  Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

  Ain N; Muhammad N; Dianatpour M; Baroncelli M; Iqbal M; Farazifard MA; Bukhari I; Ahmed S; Hajipour M; Tabatabaie Z; Foroutan H; Nilsson O; Faghihi MA; Makitie O; Naz S
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2020;18(1):12

  Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients

  Samola Winnberg J; Rudd E; Keranen A; Lagerstedt-Robinson K; Lindblom A; Nilsson M; Lindblad M; Sjodahl K
• Article: NATURE GENETICS. 2020;52(6):572-581

  Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

  Zhan H; Ahearn TU; Lecarpentier J; Barnes D; Beesley J; Qi G; Jiang X; O'Mara TA; Zhao N; Bolla MK; Dunning AM; Dennis J; Wang Q; Abu Ful Z; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Aronson KJ; Arun BK; Auer PL; Azzollini J; Barrowdale D; Becher H; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bialkowska K; Blanco A; Blomqvist C; Bogdanova NV; Bojesen SE; Bonanni B; Bondavalli D; Borg A; Brauch H; Brenner H; Briceno I; Broeks A; Brucker SY; Bruening T; Burwinkel B; Buys SS; Byers H; Caldes T; Caligo MA; Calvello M; Campa D; Castelao JE; Chang-Claude J; Chanock SJ; Christiaens M; Christiansen H; Chung WK; Claes KBM; Clarke CL; Cornelissen S; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Diez O; Domchek SM; Doerk T; Dwek M; Eccles DM; Ekici AB; Evans DG; Fasching PA; Figueroa J; Foretova L; Fostira F; Friedman E; Frost D; Gago-Dominguez M; Gapstur SM; Garber J; Garcia-Saenz JA; Gaudet MM; Gayther SA; Giles GG; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Gronwald J; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hake CR; Hall P; Hamann U; Harkness EF; Heemskerk-Gerritsen BAM; Hillemanns P; Hogervorst FBL; Holleczek B; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Howell A; Huebner H; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Jager A; Jakimovska M; Jakubowska A; James P; Janavicius R; Janni W; John EM; Jones ME; Jung A; Kaaks R; Kapoor PM; Karlan BY; Keeman R; Khan S; Khusnutdinova E; Kitahara CM; Ko Y-D; Konstantopoulou I; Koppert LB; Koutros S; Kristensen VN; Laenkholm A-V; Lambrechts D; Larsson SC; Laurent-Puig P; Lazaro C; Lazarova E; Lejbkowicz F; Leslie G; Lesueur F; Lindblom A; Lissowska J; Lo W-Y; Loud JT; Lubinski J; Lukomska A; MacInnis RJ; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Matricardi L; McGuffog L; McLean C; Mebirouk N; Meindl A; Menon U; Miller A; Mingazheva E; Montagna M; Mulligan AM; Mulot C; Muranen TA; Nathanson KL; Neuhausen SL; Nevanlinna H; Neven P; Newman WG; Nielsens FC; Nikitina-Zake L; Nodora J; Offit K; Olah E; Olopade OI; Olsson H; Orr N; Papi L; Papp J; Park-Simon T-W; Parsons MT; Peissel B; Peixoto A; Peshkin B; Peterlongo P; Peto J; Phillips K-A; Piedmonte M; Plaseska-Karanfilska D; Prajzendanc K; Prentice R; Prokofyeva D; Rack B; Radice P; Ramus SJ; Rantala J; Rashid MU; Rennert G; Rennert HS; Risch HA; Romero A; Rookus MA; Ruebner M; Ruediger T; Saloustros E; Sampson S; Sandler DP; Sawyer EJ; Scheuner MT; Schmutzler RK; Schneeweiss A; Schoemaker MJ; Schoettker B; Schuermann P; Senter L; Sharma P; Sherman ME; Shu X-O; Singer CF; Smichkoska S; Soucy P; Southey MC; Spinelli JJ; Stone J; Stoppa-Lyonnet D; Swerdlow AJ; Szabo CI; Tamimi RM; Tapper WJ; Taylor JA; Teixeira MR; Terry M; Thomassen M; Thull DL; Tischkowitz M; Toland AE; Tollenaar RAEM; Tomlinson I; Torres D; Troester MA; Truong T; Tung N; Untch M; Vachon CM; van den Ouweland AMW; van der Kolk LE; van Veen EM; vanRensburg EJ; Vega A; Wappenschmidt B; Weinberg CR; Weitzel JN; Wildiers H; Winqvist R; Wolk A; Yang XR; Yannoukakos D; Zheng W; Zorn KK; Milne RL; Kraft P; Simard J; Pharoah PDP; Michailidou K; Antoniou AC; Schmidt MK; Chenevix-Trench G; Easton DF; Chatterjee N; Garcia-Closas M
• Editorial: HEMASPHERE. 2020;4(3):e406

  Congenital and Acquired Chronic Neutropenias: Challenges, Perspectives and Implementation of the EuNet-INNOCHRON Action

  Papadaki HA; Mavroudi I; Almeida A; Bux J; Cichy J; Dale DC; Donadieu J; Hoglund P; Karanfilski O; Mecucci C; Palmblad J; Skokowa J; Stamatopoulos K; Touw I; Warren AJ; Welte K; Zeidler C; Dufour C
• Article: JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY. 2020;159(6):2525-2537.e23

  Synthetic tracheal grafts seeded with bone marrow cells fail to generate functional tracheae: First long-term follow-up study

  Fux T; Osterholm C; Themudo R; Simonson O; Grinnemo K-H; Corbascio M
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2020;181(2):423-434

  Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

  Giardiello D; Hauptmann M; Steyerberg EW; Adank MA; Akdeniz D; Blom JC; Blomqvist C; Bojesen SE; Bolla MK; Brinkhuis M; Chang-Claude J; Czene K; Devilee P; Dunning AM; Easton DF; Eccles DM; Fasching PA; Figueroa J; Flyger H; Garcia-Closas M; Haeberle L; Haiman CA; Hall P; Hamann U; Hopper JL; Jager A; Jakubowska A; Jung A; Keeman R; Koppert LB; Kramer I; Lambrechts D; Le Marchand L; Lindblom A; Lubinski J; Manoochehri M; Mariani L; Nevanlinna H; Oldenburg HSA; Pelders S; Pharoah PDP; Shah M; Siesling S; Smit VTHBM; Southey MC; Tapper WJ; Tollenaar RAEM; van den Broek AJ; van Deurzen CHM; van Leeuwen FE; van Ongeval C; Van't Veer LJ; Wang Q; Wendt C; Westenend PJ; Hooning MJ; Schmidt MK
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2020;105(6):dgaa140-e2213

  Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections

  Borchers J; Pukkala E; Makitie O; Laakso S
• Article: EPIGENETICS & CHROMATIN. 2020;13(1):25

  DAMEfinder: a method to detect differential allele-specific methylation.

  Orjuela S; Machlab D; Menigatti M; Marra G; Robinson MD
• Journal article: NEPHROLOGY DIALYSIS TRANSPLANTATION. 2020;35(Supplement_3):gfaa139.so042

  SO042WHOLE GENOME SEQUENCING OF HUMAN KIDNEY PROGENITORS IDENTIFIES A MUTATION-PRONE CELL TYPE IN THE PROXIMAL TUBULE

  Franco I; Helgadottir H; Moggio A; Larsson M; Vrtacnik P; Johansson A; Norgren N; Lundin P; Mas-Ponte D; Nordstrom J; Lundgren T; Stenvinkel P; Wennberg L; Supek F; Eriksson M
• Conference publication: NEPHROLOGY DIALYSIS TRANSPLANTATION. 2020;35:47

  WHOLE GENOME SEQUENCING OF HUMAN KIDNEY PROGENITORS IDENTIFIES A MUTATION-PRONE CELL TYPE IN THE PROXIMAL TUBULE

  Franco I; Helgadottir H; Moggio A; Larsson M; Vrtacnik P; Johansson A; Norgren N; Lundin P; Mas-Ponte D; Nordstrom J; Lundgren T; Stenvinkel P; Wennberg L; Supek F; Eriksson M
• Article: BLOOD. 2020;135(21):1859-1869

  International prognostic score for asymptomatic early-stage chronic lymphocytic leukemia

  Condoluci A; di Bergamo LT; Langerbeins P; Hoechstetter MA; Herling CD; De Paoli L; Delgado J; Rabe KG; Gentile M; Doubek M; Mauro FR; Chiodin G; Mattsson M; Bahlo J; Cutrona G; Kotaskova J; Deambrogi C; Smedby KE; Spina V; Bruscaggin A; Wu W; Moia R; Bianchi E; Gerber B; Zucca E; Gillessen S; Ghielmini M; Cavalli F; Stussi G; Hess MA; Baumann TS; Neri A; Ferrarini M; Rosenquist R; Forconi F; Foa R; Pospisilova S; Morabito F; Stilgenbauer S; Doehner H; Parikh SA; Wierda WG; Montserrat E; Gaidano G; Hallek M; Rossi D
• Doctoral thesis: 2020

  Genetic causes and underlying disease mechanisms in early-onset osteoporosis

  Kämpe AJ
• Doctoral thesis: 2020

  Factors associated with HIV susceptibility in the female genital tract

  Bradley F
• Journal article: JOURNAL OF THE ENDOCRINE SOCIETY. 2020;4(Supplement_1):sat-400

  SAT-400 Pregnancy Outcome in Women with Hypoparathyroidism:Aswedishpopulation-Based Cohort Study

  Bjornsdottir S; Clarke BL; Makitie O; Spelman T; Kampe O
• Preprint: MEDRXIV. 2020

  Genetic architectures of proximal and distal colorectal cancer are partly distinct

  Huyghe J; Harrison T; Bien S; Hampel H; Figueiredo J; Schmit S; Conti D; Chen S; Qu C; Lin Y; Barfield R; Baron J; Cross A; Diergaarde B; Duggan D; Harlid S; Imaz L; Kang HM; Levine D; Perduca V; Perez-Cornago A; Sakoda L; Schumacher F; Slattery M; Toland A; van Duijnhoven FJB; Van Guelpen B; Arndt V; Agudo A; Albanes D; Alonso H; Anderson K; Arnau-Collell C; Banbury B; Bassik M; Berndt S; Bézieau S; Bishop T; Boehm J; Boeing H; Boutron-Ruault M-C; Brenner H; Brezina S; Buch S; Buchanan D; Burnett-Hartman A; Caan B; Campbell P; Carr P; Castells A; Castellví-Bel S; Chan A; Chang-Claude J; Chanock S; Curtis K; de la Chapelle A; Easton D; English D; Feskens EJM; Gala M; Gallinger S; Gauderman J; Giles G; Goodman P; Grady W; Grove J; Gsur A; Gunter M; Haile R; Hampe J; Hoffmeister M; Hopper J; Hsu W-L; Huang W-Y; Hudson T; Jenab M; Jenkins M; Joshi A; Keku T; Kooperberg C; Kuhn T; Küry S; Le Marchand L; Lejbkowicz F; Li C; Li L; Lieb W; Lindblom A; Lindor N; Männistö S; Markowitz S; Milne R; Moreno L; Murphy N; Nassir R; Offit K; Ogino S; Panico S; Parfrey P; Pearlman R; Pharoah P; Phipps A; Platz E; Potter J; Prentice R; Qi L; Raskin L; Rennert G; Rennert H; Riboli E; Schafmayer C; Schoen R; Seminara D; Song M; Su Y-R; Tangen C; Thibodeau S; Thomas D; Trichopoulou A; Ulrich C; Visvanathan K; Vodicka P; Vodickova L; Vymetalkova V; Weigl K; Weinstein S; White E; Wolk A; Woods M; Wu A; Abecasis G; Nickerson D; Scacheri P; Kundaje A; Casey G; Gruber S; Hsu L; Moreno V; Hayes R; Newcomb P; Peters U
• Letter: BLOOD CANCER JOURNAL. 2020;10(5):51

  Parental origin of monosomic chromosomes in near-haploid acute lymphoblastic leukemia

  Lundin-Strom KB; Strom K; Biloglav A; Barbany G; Behrendtz M; Castor A; Olsson-Arvidsson L; Johansson B
• Article: MICROBIOME. 2020;8(1):61

  The neovaginal microbiome of transgender women post-gender reassignment surgery

  Birse KD; Kratzer K; Zuend CF; Mutch S; Noel-Romas L; Lamont A; Abou M; Jalil E; Veloso V; Grinsztejn B; Friedman RK; Broliden K; Bradley F; Poliquin V; Li F; Yanavich C; Burgener A; Aldrovandi G
• Article: GENETICS IN MEDICINE. 2020;22(5):857-866

  Defining the clinical phenotype of Saul-Wilson syndrome

  Ferreira CR; Zein WM; Huryn LA; Merker A; Berger SI; Wilson WG; Tiller GE; Wolfe LA; Merideth M; Carvalho DR; Duker AL; Bratke H; Haug MG; Rohena L; Hove HB; Xia Z-J; Ng BG; Freeze HH; Gabriel M; Russi AHS; Brick L; Kozenko M; Earl DL; Tham E; Nishimura G; Phillips JA; Gahl WA; Hamid R; Jackson AP; Grigelioniene G; Bober MB
• Article: ENDOCRINE-RELATED CANCER. 2020;27(5):295-308

  GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours

  Paulsson JO; Wang N; Gao J; Stenman A; Zedenius J; Mu N; Lui W-O; Larsson C; Juhlin CC
• Article: BLOOD CANCER JOURNAL. 2020;10(4):45

  DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma

  Haider Z; Landfors M; Golovleva I; Erlanson M; Schmiegelow K; Flaegstad T; Kanerva J; Noren-Nystrom U; Hultdin M; Degerman S
• Article: FRONTIERS IN PEDIATRICS. 2020;8:145

  GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

  Loid P; Pekkinen M; Reyes M; Mustila T; Viljakainen H; Juppner H; Makitie O
• Article: BMC BIOINFORMATICS. 2020;21(1):128

  pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

  Thutkawkorapin J; Eisfeldt J; Tham E; Nilsson D
• Article: PEDIATRIC BLOOD & CANCER. 2020;67(4):e28163

  Vitamin D status in children with leukemia, its predictors, and association with outcome

  Jackmann N; Makitie O; Harila-Saari A; Gustafsson J; Nezirevic Dernroth D; Frisk P
• Article: GASTROENTEROLOGY. 2020;158(5):1300-1312.e20

  Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

  Murphy N; Carreras-Torres R; Song M; Chan AT; Martin RM; Papadimitriou N; Dimou N; Tsilidis KK; Banbury B; Bradbury KE; Besevic J; Rinaldi S; Riboli E; Cross AJ; Travis RC; Agnoli C; Albanes D; Berndt SI; Bezieau S; Bishop DT; Brenner H; Buchanan DD; Onland-Moret NC; Burnett-Hartman A; Campbell PT; Casey G; Castellvi-Bel S; Chang-Claude J; Chirlaque M-D; de la Chapelle A; English D; Figueiredo JC; Gallinger SJ; Giles GG; Gruber SB; Gsur A; Hampe J; Hampel H; Harrison TA; Hoffmeister M; Hsu L; Huang W-Y; Huyghe JR; Jenkins MA; Keku TO; Kuhn T; Kweon S-S; Le Marchand L; Li CI; Li L; Lindblom A; Martin V; Milne RL; Moreno V; Newcomb PA; Offit K; Ogino S; Ose J; Perduca V; Phipps AI; Platz EA; Potter JD; Qu C; Rennert G; Sakoda LC; Schafmayer C; Schoen RE; Slattery ML; Tangen CM; Ulrich CM; van Duijnhoven FJB; Van Guelpen B; Visvanathan K; Vodicka P; Vodickova L; Vymetalkova V; Wang H; White E; Wolk A; Woods MO; Wu AH; Zheng W; Peters U; Gunter MJ
• Article: GASTROENTEROLOGY. 2020;158(5):1274-1286.e12

  Cumulative Burden of Colorectal Cancer Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

  Archambault AN; Su Y-R; Jeon J; Thomas M; Lin Y; Conti DV; Win AK; Sakoda LC; Lansdorp-Vogelaar I; Peterse EFP; Zauber AG; Duggan D; Holowatyj AN; Huyghe JR; Brenner H; Cotterchio M; Bezieau S; Schmit SL; Edlund CK; Southey MC; MacInnis RJ; Campbell PT; Chang-Claude J; Slattery ML; Chan AT; Joshi AD; Song M; Cao Y; Woods MO; White E; Weinstein SJ; Ulrich CM; Hoffmeister M; Bien SA; Harrison TA; Hampe J; Li CI; Schafmayer C; Offit K; Pharoah PD; Moreno V; Lindblom A; Wolk A; Wu AH; Li L; Gunter MJ; Gsur A; Keku TO; Pearlman R; Bishop DT; Castellvi-Bel S; Moreira L; Vodicka P; Kampman E; Giles GG; Albanes D; Baron JA; Berndt SI; Brezina S; Buch S; Buchanan DD; Trichopoulou A; Severi G; Chirlaque M-D; Sanchez M-J; Palli D; Kuhn T; Murphy N; Cross AJ; Burnett-Hartman AN; Chanock SJ; de la Chapelle A; Easton DF; Elliott F; English DR; Feskens EJM; FitzGerald LM; Goodman PJ; Hopper JL; Hudson TJ; Hunter DJ; Jacobs EJ; Joshu CE; Kury S; Markowitz SD; Milne RL; Platz EA; Rennert G; Rennert HS; Schumacher FR; Sandler RS; Seminara D; Tangen CM; Thibodeau SN; Toland AE; van Duijnhoven FJB; Visvanathan K; Vodickova L; Potter JD; Mannisto S; Weigl K; Figueiredo J; Martin V; Larsson SC; Parfrey PS; Huang W-Y; Lenz H-J; Castelao JE; Gago-Dominguez M; Munoz-Garzon V; Mancao C; Haiman CA; Wilkens LR; Siegel E; Barry E; Younghusband B; Van Guelpen B; Harlid S; Zeleniuch-Jacquotte A; Liang PS; Du M; Casey G; Lindor NM; Le Marchand L; Gallinger SJ; Jenkins MA; Newcomb PA; Gruber SB; Schoen RE; Hampel H; Corley DA; Hsu L; Peters U; Hayes RB
• Article: STROKE. 2020;51(4):1056-1063

  Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

  Ilinca A; Martinez-Majander N; Samuelsson S; Piccinelli P; Truve K; Cole J; Kittner S; Soller M; Kristoffersson U; Tatlisumak T; Puschmann A; Putaala J; Lindgren A
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2020;29(4):860-870

  Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

  Khankari NK; Banbury BL; Borges MC; Haycock P; Albanes D; Arndt V; Berndt SI; Bezieau S; Brenner H; Campbell PT; Casey G; Chan AT; Chang-Claude J; Conti DV; Cotterchio M; English DR; Figueiredo JC; Giles GG; Giovannucci EL; Gunter MJ; Hampe J; Hoffmeister M; Hopper JL; Jenkins MA; Joshi AD; Le Marchand L; Lemire M; Li CI; Li L; Lindblom A; Martin V; Moreno V; Newcomb PA; Offit K; Pharoah PDP; Rennert G; Sakoda LC; Schafmayer C; Schmit SL; Slattery ML; Song M; Thibodeau SN; Ulrich CM; Weinstein SJ; White E; Win AK; Wolk A; Woods MO; Wu AH; Cai Q; Denny JC; Edwards TL; Murff HJ; Gruber SB; Peters U; Zheng W
• Preprint: MEDRXIV. 2020

  Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

  Bull C; Bell J; Murphy N; Sanderson E; Smith GD; Timpson N; Banbury B; Albanes D; Berndt S; Bézieau S; Bishop T; Brenner H; Buchanan D; Burnett-Hartman A; Casey G; Castellví-Bel S; Chan A; Chang-Claude J; Cross A; de la Chapelle A; Figueiredo J; Gallinger S; Gapstur S; Giles G; Gruber S; Gsur A; Hampe J; Hampel H; Harrison T; Hoffmeister M; Hsu L; Huang W-Y; Huyghe J; Jenkins M; Joshu C; Keku T; Kühn T; Kweon S-S; Le Marchand L; Li C; Li L; Lindblom A; Martín V; May A; Milne R; Moreno V; Newcomb P; Offit K; Ogino S; Phipps A; Platz E; Potter J; Qu C; Quirós R; Rennert G; Riboli E; Sakoda L; Schafmayer C; Schoen R; Slattery M; Tangen C; Tsilidis K; Ulrich C; van Duijnhoven FJB; Van Guelpen B; Visvanathan K; Vodicka P; Vodickova L; Wang H; White E; Wolk A; Woods M; Wu A; Campbell P; Zheng W; Peters U; Vincent E; Gunter M
• Article: CLINICAL CANCER RESEARCH. 2020;26(6):1507-1515

  The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

  Brieghel C; da Cunha-Bang C; Yde CW; Schmidt AY; Kinalis S; Nadeu F; Andersen MA; Jacobsen LO; Andersen MK; Pedersen LB; Delgado J; Baumann T; Mattsson M; Mansouri L; Rosenquist R; Campo E; Nielsen FC; Niemann CU
• Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:109

  Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations

  Laakso S; Borchers J; Toiviainen-Salo S; Pekkinen M; Makitie O
• Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2020;217(3):e20191306

  Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome

  Chen Y-H; Grigelioniene G; Newton PT; Gullander J; Elfving M; Hammarsjo A; Batkovskyte D; Alsaif HS; Kurdi WIY; Abdulwahab F; Shanmugasundaram V; Devey L; Bacrot S; Brodszki J; Huber C; Hamel B; Gisselsson D; Papadogiannakis N; Jedrycha K; Gurtl-Lackner B; Chagin AS; Nishimura G; Aschenbrenner D; Alkuraya FS; Laurence A; Cormier-Daire V; Uhlig HH
• Review: JAPANESE JOURNAL OF RADIOLOGY. 2020;38(3):193-206

  Skeletal ciliopathies: a pattern recognition approach

  Handa A; Voss U; Hammarsjo A; Grigelioniene G; Nishimura G
• Corrigendum: ONCOTARGET. 2020;11(8):827

  Correction: Glioblastoma and glioblastoma stem cells are dependent on functional MTH1.

  Pudelko L; Rouhi P; Sanjiv K; Gad H; Kalderén C; Höglund A; Squatrito M; Schuhmacher AJ; Edwards S; Hägerstrand D; Berglund UW; Helleday T; Bräutigam L
• Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613

  Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

  Ivanov Ofverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Anh NT; Saft L; Nilsson D; Syvanen A-C; Lonnerholm G; Harila-Saari A; Nordenskjold M; Heyman M; Nordgren A; Nordlund J; Barbany G
• Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:81

  Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity

  Loid P; Mustila T; Makitie RE; Viljakainen H; Kampe A; Tossavainen P; Lipsanen-Nyman M; Pekkinen M; Makitie O
• Article: SCIENTIFIC REPORTS. 2020;10(1):2512

  Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.

  Nordlund J; Marincevic-Zuniga Y; Cavelier L; Raine A; Martin T; Lundmark A; Abrahamsson J; Norén-Nyström U; Lönnerholm G; Syvänen A-C
• Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084

  Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

  Winberg J; Gustavsson P; Sahlin E; Larsson M; Ehren H; Fossum M; Wester T; Nordgren A; Nordenskjold A
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2020;29(2):477-486

  Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians

  Lu Y; Kweon S-S; Cai Q; Tanikawa C; Shu X-O; Jia W-H; Xiang Y-B; Huyghe JR; Harrison TA; Kim J; Shin A; Kim D-H; Matsuo K; Jee SH; Guo X; Wen W; Shi J; Li B; Wang N; Shin M-H; Li H-L; Ren Z; Oh JH; Oze I; Ahn Y-O; Jung KJ; Gao J; Gao Y-T; Pan Z-Z; Kamatani Y; Chan AT; Gsur A; Hampe J; Le Marchand L; Li L; Lindblom A; Moreno V; Newcomb PA; Offit K; Pharoah PDP; Van Duijnhoven FJB; Van Guelpen B; Vodicka P; Weinstein SJ; Wolk A; Wu AH; Hsu L; Zeng Y-X; Long J; Peters U; Matsuda K; Zheng W
• Article: CANCER RESEARCH. 2020;80(3):624-638

  Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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• Article: JOURNAL OF PATHOLOGY. 2020;250(2):183-194

  Whole-genome sequencing of synchronous thyroid carcinomas identifies aberrant DNA repair in thyroid cancer dedifferentiation

  Paulsson JO; Backman S; Wang N; Stenman A; Crona J; Thutkawkorapin J; Ghaderi M; Tham E; Stalberg P; Zedenius J; Juhlin CC
• Article: GLIA. 2020;68(2):316-327

  Astrocytes enhance glioblastoma growth

  Mega A; Nilsen MH; Leiss LW; Tobin NP; Miletic H; Sleire L; Strell C; Nelander S; Krona C; Hagerstrand D; Enger PO; Nister M; Ostman A
• Article: NATURE COMMUNICATIONS. 2020;11(1):597

  Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

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• Article: CANCERS. 2020;12(2):E292-292

  The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

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• Article: NATURE COMMUNICATIONS. 2020;11(1):312

  A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

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• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2020;18(1):1

  Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants-the Swedish constitutional TP53 study SWEP53

  Omran M; Blomqvist L; Brandberg Y; Pal N; Kogner P; Stahlbom AK; Tham E; Bajalica-Lagercrantz S
• Review: FRONTIERS IN ONCOLOGY. 2020;10:67

  B Cell Receptor Immunogenetics in B Cell Lymphomas: Immunoglobulin Genes as Key to Ontogeny and Clinical Decision Making.

  Gemenetzi K; Agathangelidis A; Zaragoza-Infante L; Sofou E; Papaioannou M; Chatzidimitriou A; Stamatopoulos K
• Article: NATURE GENETICS. 2020;52(1):56-73

  Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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• Article: FRONTIERS IN IMMUNOLOGY. 2020;11:608701

  "Cerberus" T Cells: A Glucocorticoid-Resistant, Multi-Pathogen Specific T Cell Product to Fight Infections in Severely Immunocompromised Patients.

  Koukoulias K; Papayanni P-G; Georgakopoulou A; Alvanou M; Laidou S; Kouimtzidis A; Pantazi C; Gkoliou G; Vyzantiadis T-A; Spyridonidis A; Makris A; Chatzidimitriou A; Psatha N; Anagnostopoulos A; Yannaki E; Papadopoulou A
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2020;95(1):57-67

  Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphoma

  Abdulla M; Hollander P; Pandzic T; Mansouri L; Ednersson SB; Andersson P-O; Hultdin M; Fors M; Erlanson M; Degerman S; Petersen HM; Asmar F; Gronbaek K; Enblad G; Cavelier L; Rosenquist R; Amini R-M
• Article: JOURNAL OF MEDICAL GENETICS. 2020;57(1):18-22

  'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations

  Vakkilainen S; Costantini A; Taskinen M; Wartiovaara-Kautto U; Makitie O
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2020;93(3):182-196

  Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

  Mantovani G; Bastepe M; Monk D; De Sanctis L; Thiele S; Ahmed SF; Bufo R; Choplin T; De Filippo G; Devernois G; Eggermann T; Elli FM; Garcia Ramirez A; Germain-Lee EL; Groussin L; Hamdy NAT; Hanna P; Hiort O; Jueppner H; Kamenicky P; Knight N; Le Norcy E; Lecumberri B; Levine MA; Maekitie O; Martin R; Martos-Moreno GA; Minagawa M; Murray P; Pereda A; Pignolo R; Rejnmark L; Rodado R; Rothenbuhler A; Saraff V; Shoemaker AH; Shore EM; Silve C; Turan S; Woods P; Zillikens MC; Perez de Nanclares G; Linglart A
• Article: NEURO-ONCOLOGY ADVANCES. 2020;2(1):vdaa061

  Identification of functionally distinct and interacting cancer cell subpopulations from glioblastoma with intratumoral genetic heterogeneity

  Guo M; van Vliet M; Zhao J; de Stahl TD; Lindstrom MS; Cheng H; Heller S; Nister M; Hagerstrand D
• Article: GENETICS IN MEDICINE. 2020;22(1):15-25

  Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

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• Article: GENOME BIOLOGY. 2019;20(1):285

  Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type

  Franco I; Helgadottir HT; Moggio A; Larsson M; Vrtacnik P; Johansson A; Norgren N; Lundin P; Mas-Ponte D; Nordstrom J; Lundgren T; Stenvinkel P; Wennberg L; Supek F; Eriksson M
• Article: BREAST CANCER RESEARCH. 2019;21(1):144

  Prediction and clinical utility of a contralateral breast cancer risk model

  Giardiello D; Steyerberg EW; Hauptmann M; Adank MA; Akdeniz D; Blomqvist C; Bojesen SE; Bolla MK; Brinkhuis M; Chang-Claude J; Czene K; Devilee P; Dunning AM; Easton DF; Eccles DM; Fasching PA; Figueroa J; Flyger H; Garcia-Closas M; Haeberle L; Haiman CA; Hall P; Hamann U; Hopper JL; Jager A; Jakubowska A; Jung A; Keeman R; Kramer I; Lambrechts D; Le Marchand L; Lindblom A; Lubinski J; Manoochehri M; Mariani L; Nevanlinna H; Oldenburg HSA; Pelders S; Pharoah PDP; Shah M; Siesling S; Smit VTHBM; Southey MC; Tapper WJ; Tollenaar RAEM; Van den Broek AJ; Van Deurzen CHM; Van Leeuwen FE; Van Ongeval C; Van't Veer LJ; Wang Q; Wendt C; Westenend PJ; Hooning MJ; Schmidt MK
• Article: CELL. 2019;179(7):1647-1660.e19

  A Spatiotemporal Organ-Wide Gene Expression and Cell Atlas of the Developing Human Heart

  Asp M; Giacomello S; Larsson L; Wu C; Furth D; Qian X; Wardell E; Custodio J; Reimegard J; Salmen F; Osterholm C; Stahl PL; Sundstrom E; Akesson E; Bergmann O; Bienko M; Mansson-Broberg A; Nilsson M; Sylven C; Lundeberg J
• Article: STEM CELL RESEARCH & THERAPY. 2019;10(1):371

  Immunomodulatory effects of interferon-γ on human fetal cardiac mesenchymal stromal cells

  Grinnemo K-H; Lofling M; Nathanson L; Baumgartner R; Ketelhuth DFJ; Beljanski V; Davies LC; Osterholm C
• Article: CLINICAL EPIGENETICS. 2019;11(1):177

  DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy

  Tsagiopoulou M; Papakonstantinou N; Moysiadis T; Mansouri L; Ljungstrom V; Duran-Ferrer M; Malousi A; Queiros AC; Plevova K; Bhoi S; Kollia P; Oscier D; Anagnostopoulos A; Trentin L; Ritgen M; Pospisilova S; Stavroyianni N; Ghia P; Martin-Subero JI; Pott C; Rosenquist R; Stamatopoulos K
• Article: PLOS GENETICS. 2019;15(12):e1008530

  Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

  Kampe A; Enlund-Cerullo M; Valkama S; Holmlund-Suila E; Rosendahl J; Hauta-alus H; Pekkinen M; Andersson S; Makitie O
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27(12):1763-1773

  European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

  Fellmann F; van El CG; Charron P; Michaud K; Howard HC; Boers SN; Clarke AJ; Duguet A-M; Forzano F; Kauferstein S; Kayserili H; Lucassen A; Mendes A; Patch C; Radojkovic D; Rial-Sebbag E; Sheppard MN; Tasse A-M; Temel SG; Sajantila A; Basso C; Wilde AAM; Cornel MC; Benjamin C; Borry P; Clarke A; Cordier C; Cornel M; van El C; Fellmann F; Forzano F; Howard H; Kayserili H; Melegh B; Mendes A; Perola M; Peterlin B; Radojkovic D; Rial-Sebbag E; Rogowski W; Soller M; Stefansdottir V; de Wert G
• Review: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2019;180(8):523-532

  Psychiatric genetic counseling: A mapping exercise

  Moldovan R; McGhee KA; Coviello D; Hamang A; Inglis A; Ingvoldstad Malmgren C; Johansson-Soller M; Laurino M; Meiser B; Murphy L; Paneque M; Papsuev O; Pawlak J; Rovira Moreno E; Serra-Juhe C; Shkedi-Rafid S; Laing N; Voelckel M-A; Watson M; Austin JC
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2019;34:371-372

  Biomarker Profiles in PLS3 and WNT1 Osteoporosis - Elevated Serum DKK1 in Abnormal PLS3 Function

  Makitie R; Makitie O; Kampe A; Costantini A; Alm J; Magnusson P
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2019;34:300

  Increased burden of common risk alleles in children with a significant fracture history.

  Manousaki D; Forgetta V; Richards B; Kampe A; Makitie R; Bardai G; Ranch F; Belisle A; Li R; Makitie O
• Letter: LEUKEMIA & LYMPHOMA. 2019;60(13):3316-3319

  Angioimmunoblastic T-cell lymphoma and myelodysplastic syndrome with mutations in TET2, DNMT3 and CUX1 - azacitidine induces only lymphoma remission

  Tobiasson M; Pandzic T; Cavelier L; Sander B; Wahlin BE
• Article: GENOME MEDICINE. 2019;11(1):68

  From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

  Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
• Article: EPIGENETICS. 2019;14(11):1125-1140

  EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia

  Kosalai ST; Morsy MHA; Papakonstantinou N; Mansouri L; Stavroyianni N; Kanduri C; Stamatopoulos K; Rosenquist R; Kanduri M
• Article: NPJ BREAST CANCER. 2019;5:38

  The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

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Eliassen AH; Ellberg C; Eriksson M; Evans DG; Fasching PA; Figueroa J; Flyger H; Foulkes WD; Friebel TM; Friedman E; Gabrielson M; Gaddam P; Gago-Dominguez M; Gao C; Gapstur SM; Garber J; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Gayther SA; Giles GG; Glendon G; Godwin AK; Goldberg MS; Goldgar DE; Guenel P; Gutierrez-Barrera AM; Haeberle L; Haiman CA; Hakansson N; Hall P; Hamann U; Harrington PA; Hein A; Heyworth J; Hillemanns P; Hollestelle A; Hopper JL; Hosgood HDIII; Howell A; Hu C; Hulick PJ; Hunter DJ; Imyanitov EN; Isaacs C; Jakimovska M; Jakubowska A; James P; Janavicius R; Janni W; John EM; Jones ME; Jung A; Kaaks R; Karlan BY; Khusnutdinova E; Kitahara CM; Konstantopoulou I; Koutros S; Kraft P; Lambrechts D; Lazaro C; Le Marchand L; Lester J; Lesueur F; Lilyquist J; Loud JT; Lu KH; Luben RN; Lubinski J; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martens JWM; Maurer T; Mavroudis D; Mebirouk N; Meindl A; Menon U; Miller A; Montagna M; Nathanson KL; Neuhausen SL; Newman WG; Nguyen-Dumont T; Nielsen FC; Nielsen S; Nikitina-Zake L; Offit K; Olah E; Olopade OI; Olshan AF; Olson JE; Olsson H; Osorio A; Ottini L; Peissel B; Peixoto A; Peto J; Plaseska-Karanfilska D; Pocza T; Presneau N; Angel Pujana M; Punie K; Rack B; Rantala J; Rashid MU; Rau-Murthy R; Rennert G; Lejbkowicz F; Rhenius V; Romero A; Rookus MA; Ross EA; Rossing M; Rudaitis V; Ruebner M; Saloustros E; Sanden K; Santamarina M; Scheuner MT; Schmutzler RK; Schneider M; Scott C; Senter L; Shah M; Sharma P; Shu X-O; Simard J; Singer CF; Sohn C; Soucy P; Southey MC; Spinelli JJ; Steele L; Stoppa-Lyonnet D; Tapper WJ; Teixeira MR; Terry MB; Thomassen M; Thompson J; Thull DL; Tischkowitz M; Tollenaar RAEM; Torres D; Troester MA; Truong T; Tung N; Untch M; Vachon CM; van Rensburg EJ; van Veen EM; Vega A; Viel A; Wappenschmidt B; Weitzel JN; Wendt C; Wieme G; Wolk A; Yang XR; Zheng W; Ziogas A; Zorn KK; Dunning AM; Lush M; Wang Q; McGuffog L; Parsons MT; Pharoah PDP; Fostira F; Toland AE; Andrulis IL; Ramus SJ; 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Cohen P; Colley A; Fenton G; Crook A; Dickson R; Field M; Cui J; Cummings M; Dawson S-J; DeFazio A; Delatycki M; Dudding T; Edkins T; Farshid G; Flanagan J; Fong P; Forrest L; Gallego-Ortega D; George P; Gill G; Kollias J; Haan E; Hart S; Jenkins M; Hunt C; Lakhani S; Lipton L; Lobb L; Mann G; McLachlan SA; O'Connell S; O'Sullivan S; Pieper E; Robinson B; Saunus J; Scott E; Shelling A; Williams R; Young MA
• Article: BIOINFORMATICS. 2019;35(22):4757-4759

  snakePipes: facilitating flexible, scalable and integrative epigenomic analysis.

  Bhardwaj V; Heyne S; Sikora K; Rabbani L; Rauer M; Kilpert F; Richter AS; Ryan DP; Manke T
• Article: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2019;139(11):2272-2280.e12

  Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins

  Sola-Carvajal A; Revechon G; Helgadottir HT; Whisenant D; Hagblom R; Dohla J; Katajisto P; Brodin D; Fagerstrom-Billai F; Viceconte N; Eriksson M
• Article: GENES CHROMOSOMES & CANCER. 2019;58(11):775-782

  Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

  Wallander K; Liu W; von Holst S; Thutkawkorapin J; Kontham V; Forsberg A; Lindblom A; Lagerstedt-Robinson K
• Article: OSTEOARTHRITIS AND CARTILAGE. 2019;27(11):1636-1646

  Defective WNT signaling may protect from articular cartilage deterioration - a quantitative MRI study on subjects with a heterozygous WNT1 mutation

  Lehtovirta S; Makitie RE; Casula V; Haapea M; Niinimaki J; Niinimaki T; Peuna A; Lammentausta E; Makitie O; Nieminen MT
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2019;104(11):5483-5498

  Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants

  Enlund-Cerullo M; Koljonen L; Holmlund-Suila E; Hauta-Alus H; Rosendahl J; Valkama S; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O; Pekkinen M
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(11):103573

  Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

  Kausar M; Makitie RE; Toiviainen-Salo S; Ignatius J; Anees M; Makitie O
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2019;17(1):28

  Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

  Dominguez-Valentin M; Seppala TT; Sampson JR; Macrae F; Winship I; Evans DG; Scott RJ; Burn J; Moeslein G; Bernstein I; Pylvanainen K; Renkonen-Sinisalo L; Lepistoe A; Lindblom A; Plazzer J-P; Tjandra D; Thomas H; Green K; Lalloo F; Crosbie EJ; Hill J; Capella G; Pineda M; Navarro M; Vidal JB; Ronlund K; Nielsen RT; Yilmaz M; Elvang LL; Katz L; Nielsen M; ten Broeke SW; Nakken S; Hovig E; Sunde L; Kloor M; Doeberitz MVK; Ahadova A; Lindor N; Steinke-Lange V; Holinski-Feder E; Mecklin J-P; Moller P
• Article: CANCER PREVENTION RESEARCH. 2019;12(10):701-710

  Implementation of HPV-based Cervical Cancer Screening Combined with Self-sampling Using a Midwifery Network Across Rural Greece: The GRECOSELF Study

  Agorastos T; Chatzistamatiou K; Tsertanidou A; Mouchtaropoulou E; Pasentsis K; Kitsou A; Moysiadis T; Moschaki V; Skenderi A; Katsiki E; Aggelidou S; Venizelos I; Ntoula M; Daponte A; Vanakara P; Garas A; Stefos T; Vrekoussis T; Lymberis V; Kontomanolis EN; Makrigiannakis A; Manidakis G; Deligeoroglou E; Panoskaltsis T; Decavalas GO; Michail G; Kalogiannidis I; Koukoulis G; Zempili P; Halatsi D; Truva T; Piha V; Agelena G; Chronopoulou A; Vaitsi V; Chatzaki E; Paschopoulos M; Adonakis G; Kaufmann AM; Hadzidimitriou A; Stamatopoulos K
• Review: MOLECULAR ASPECTS OF MEDICINE. 2019;69:107-122

  Circulating biomarkers for early detection and clinical management of colorectal cancer

  Marcuello M; Vymetalkova V; Neves RPL; Duran-Sanchon S; Vedeld HM; Tham E; van Dalum G; Fluegen G; Garcia-Barberan V; Fijneman RJ; Castells A; Vodicka P; Lind GE; Stoecklein NH; Heitzer E; Gironella M
• Article: LEUKEMIA. 2019;33(10):2416-2428

  Inhibition of SYK or BTK augments venetoclax sensitivity in SHP1-negative/BCL-2-positive diffuse large B-cell lymphoma

  Sasi BK; Martines C; Xerxa E; Porro F; Kalkan H; Fazio R; Turkalj S; Bojnik E; Pyrzynska B; Stachura J; Zerrouqi A; Bobrowicz M; Winiarska M; Priebe V; Bertoni F; Mansouri L; Rosenquist R; Efremov DG
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272

  KIAA0753 mutations in skeletal ciliopathies: unveiling disease mechanisms

  Vaz R; Hammarsjo A; Taylan F; Chitayat D; Grigelioniene G; Lindstrand A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520

  Mosaic activating PIK3CA mutations during early embryonic development cause ectopic muscle development and upper limb overgrowth

  Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830

  A novel pathogenic TBX5 variant in a family with Holt-Oram syndrome: reverse phenotyping counts

  Pacheco NP; Lagerstedt-Robinson K; Tesi B; Hammarsjo A; Mannila M; Lindstrand A; Grigelioniene G
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533

  Family trio analysis in rare syndromes - Clinical experience and outcome

  Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1155-1156

  The Hutchinson-Gilford progeria syndrome mutation is a somatic mutation in chronic kidney disease

  Eriksson M; Helgadottir HT; Viceconte N; Witasp A; Arzt EW; Carvajal AS; Revechon G; Thorell A; McGuinness D; Shiels PG; Wernerson A; Stenvinkel P
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1463

  Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient

  Helgadottir HT; Lundin P; Arzt EW; Lindstrom A; Graff C; Eriksson M
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1154-1155

  Basal and mutagen-driven somatic mutagenesis shape the genome of healthy human cells

  Franco I; Helgadottir H; Moggio A; Larsson M; Vrtacnik P; Johansson A; Norgren N; Lundin P; Mas-Ponte D; Nordstrom J; Lundgren T; Stenvinkel P; Wennberg L; Supek F; Eriksson M
• Editorial: HAEMATOLOGICA. 2019;104(10):1914-1916

  p66Shc deficiency sets the scene for clinically aggressive chronic lymphocytic leukemia

  Rosenquist R
• Article: SCIENTIFIC REPORTS. 2019;9(1):13758

  The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

  Vakkilainen S; Skoog T; Einarsdottir E; Middleton A; Pekkinen M; Ohman T; Katayama S; Krjutskov K; Kovanen PE; Varjosalo M; Lindqvist A; Kere J; Makitie O
• Preprint: BIORXIV. 2019

  Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

  Zhang H; Ahearn T; Lecarpentier J; Barnes D; Beesley J; Jiang X; O’Mara T; Qi G; Zhao N; Bolla M; Dunning A; Dennis J; Wang Q; Ful ZA; Aittomäki K; Andrulis I; Anton-Culver H; Arndt V; Aronson K; Arun B; Auer P; Azzollini J; Barrowdale D; Becher H; Beckmann M; Behrens S; Benitez J; Bermisheva M; Bialkowska K; Blanco A; Blomqvist C; Bogdanova N; Bojesen S; Bonanni B; Bondavalli D; Borg A; Brauch H; Brenner H; Briceno I; Broeks A; Brucker S; Brüning T; Burwinkel B; Buys S; Byers H; Caldés T; Caligo M; Calvello M; Campa D; Castelao J; Chang-Claude J; Chanock S; Christiaens M; Christiansen H; Chung W; Claes KBM; Clarke C; Cornelissen S; Couch F; Cox A; Cross S; Czene K; Daly M; Devilee P; Diez O; Domchek S; Dörk T; Dwek M; Eccles D; Ekici A; Evans DG; Fasching P; Figueroa J; Foretova L; Fostira F; Friedman E; Frost D; Gago-Dominguez M; Gapstur S; Garber J; García-Sáenz J; Gaudet M; Gayther S; Giles G; Godwin A; Goldberg M; Goldgar D; González-Neira A; Greene M; Gronwald J; Guénel P; Häberle L; Hahnen E; Haiman C; Hake C; Hall P; Hamann U; Harkness E; Heemskerk-Gerritsen BAM; Hillemanns P; Hogervorst FBL; Holleczek B; Hollestelle A; Hooning M; Hoover R; Hopper J; Howell A; Huebner H; Hulick P; Imyanitov E; kConFab Investigators; ABCTB Investigators; Isaacs C; Izatt L; Jager A; Jakimovska M; Jakubowska A; James P; Janavicius R; Janni W; John E; Jones M; Jung A; Kaaks R; Kapoor PM; Karlan B; Keeman R; Khan S; Khusnutdinova E; Kitahara C; Ko Y-D; Konstantopoulou I; Koppert L; Koutros S; Kristensen V; Laenkholm A-V; Lambrechts D; Larsson S; Laurent-Puig P; Lazaro C; Lazarova E; Lejbkowicz F; Leslie G; Lesueur F; Lindblom A; Lissowska J; Lo W-Y; Loud J; Lubinski J; Lukomska A; MacInnis R; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Matricardi L; McGuffog L; McLean C; Mebirouk N; Meindl A; Menon U; Miller A; Mingazheva E; Montagna M; Mulligan AM; Mulot C; Muranen T; Nathanson K; Neuhausen S; Nevanlinna H; Neven P; Newman W; Nielsen F; Nikitina-Zake L; Nodora J; Offit K; Olah E; Olopade O; Olopade O; Olsson H; Orr N; Papi L; Papp J; Park-Simon T-W; Parsons M; Peissel B; Peixoto A; Peshkin B; Peterlongo P; Peto J; Phillips K-A; Piedmonte M; Plaseska-Karanfilska D; Prajzendanc K; Prentice R; Prokofyeva D; Rack B; Radice P; Ramus S; Rantala J; Rashid M; Rennert G; Rennert H; Risch H; Romero A; Rookus M; Rübner M; Rüdiger T; Saloustros E; Sampson S; Sandler D; Sawyer E; Scheuner M; Schmutzler R; Schneeweiss A; Schoemaker M; Schöttker B; Schürmann P; Senter L; Sharma P; Sherman M; Shu X-O; Singer C; Smichkoska S; Soucy P; Southey M; Spinelli J; Stone J; Stoppa-Lyonnet D; EMBRACE Study; GEMO Study Collabora
• Corrigendum: NATURE COMMUNICATIONS. 2019;10(1):4386

  Shared heritability and functional enrichment across six solid cancers (vol 10, 431, 2019)

  Jiang X; Finucane HK; Schumacher FR; Schmit SL; Tyrer JP; Han Y; Michailidou K; Lesseur C; Kuchenbaecker KB; Dennis J; Conti DV; Casey G; Gaudet MM; Huyghe JR; Albanes D; Aldrich MC; Andrew AS; Andrulis IL; Anton-Culver H; Antoniou AC; Antonenkova NN; Arnold SM; Aronson KJ; Arun BK; Bandera EV; Barkardottir RB; Barnes DR; Batra J; Beckmann MW; Benitez J; Benlloch S; Berchuck A; Berndt SI; Bickeboller H; Bien SA; Blomqvist C; Boccia S; Bogdanova NV; Bojesen SE; Bolla MK; Brauch H; Brenner H; Brenton JD; Brook MN; Brunet J; Brunnstrom H; Buchanan DD; Burwinkel B; Butzow R; Cadoni G; Caldes T; Caligo MA; Campbell I; Campbell PT; Cancel-Tassin G; Cannon-Albright L; Campa D; Caporaso N; Carvalho AL; Chan AT; Chang-Claude J; Chanock SJ; Chen C; Christiani DC; Claes KBM; Claessens F; Clements J; Collee JM; Correa MC; Couch FJ; Cox A; Cunningham JM; Cybulski C; Czene K; Daly MB; deFazio A; Devilee P; Diez O; Gago-Dominguez M; Donovan JL; Dork T; Duell EJ; Dunning AM; Dwek M; Eccles DM; Edlund CK; Edwards DRV; Ellberg C; Evans DG; Fasching PA; Ferris RL; Liloglou T; Figueiredo JC; Fletcher O; Fortner RT; Fostira F; Franceschi S; Friedman E; Gallinger SJ; Ganz PA; Garber J; Garcia-Saenz JA; Gayther SA; Giles GG; Godwin AK; Goldberg MS; Goldgar DE; Goode EL; Goodman MT; Goodman G; Grankvist K; Greene MH; Gronberg H; Gronwald J; Guenel P; Hakansson N; Hall P; Hamann U; Hamdy FC; Hamilton RJ; Hampe J; Haugen A; Heitz F; Herrero R; Hillemanns P; Hoffmeister M; Hogdall E; Hong Y-C; Hopper JL; Houlston R; Hulick PJ; Hunter DJ; Huntsman DG; Idos G; Imyanitov EN; Ingles SA; Isaacs C; Jakubowska A; James P; Jenkins MA; Johansson M; Johansson M; John EM; Joshi AD; Kaneva R; Karlan BY; Kelemen LE; Kuehl T; Khaw K-T; Khusnutdinova E; Kibel AS; Kiemeney LA; Kim J; Kjaer SK; Knight JA; Kogevinas M; Kote-Jarai Z; Koutros S; Kristensen VN; Kupryjanczyk J; Lacko M; Lam S; Lambrechts D; Landi MT; Lazarus P; Le ND; Lee E; Lejbkowicz F; Lenz H-J; Leslie G; Lessel D; Lester J; Levine DA; Li L; Li CI; Lindblom A; Lindor NM; Liu G; Loupakis F; Lubinski J; Maehle L; Maier C; Mannermaa A; Le Marchand L; Margolin S; May T; McGuffog L; Meindl A; Middha P; Miller A; Milne RL; MacInnis RJ; Modugno F; Montagna M; Moreno V; Moysich KB; Mucci L; Muir K; Mulligan AM; Nathanson KL; Neal DE; Ness AR; Neuhausen SL; Nevanlinna H; Newcomb PA; Newcomb LF; Nielsen FC; Nikitina-Zake L; Nordestgaard BG; Nussbaum RL; Offit K; Olah E; Al Olama AA; Olopade OI; Olshan AF; Olsson H; Osorio A; Pandha H; Park JY; Pashayan N; Parsons MT; Pejovic T; Penney KL; Peters WHM; Phelan CM; Phipps AI; Plaseska-Karanfilska D; Pring M; Prokofyeva D; Radice P; Stefansson K; Ramus SJ; Raskin L; Rennert G; Rennert HS; van Rensburg EJ; Riggan MJ; Risch HA; Risch A; Roobol MJ; Rosenstein BS; Rossing MA; De Ruyck K; Saloustros E; Sandler DP; Sawyer EJ; Schabath MB; Schleutker J; Schmidt MK; Setiawan VW; Shen H; Siegel EM; Sieh W; Singer CF; Slattery ML; Sorensen KD; Southey MC; Spurdle AB; Stanford JL; Stevens VL; Stintzing S; Stone J; Sundfeldt K; Sutphen R; Swerdlow AJ; Tajara EH; Tangen CM; Tardon A; Taylor JA; Teare MD; Teixeira MR; Terry MB; Terry KL; Thibodeau SN; Thomassen M; Bjorge L; Tischkowitz M; Toland AE; Torres D; Townsend PA; Travis RC; Tung N; Tworoger SS; Ulrich CM; Usmani N; Vachon CM; Van Nieuwenhuysen E; Vega A; Elias Aguado-Barrera M; Wang Q; Webb PM; Weinberg CR; Weinstein S; Weissler MC; Weitzel JN; West CML; White E; Whittemore AS; Wichmann H-E; Wiklund F; Winqvist R; Wolk A; Woll P; Woods M; Wu AH; Wu X; Yannoukakos D; Zheng W; Zienolddiny S; Ziogas A; Zorn KK; Lane JM; Saxena R; Thomas D; Hung RJ; Diergaarde B; McKay J; Peters U; Hsu L; Garcia-Closas M; Eeles RA; Chenevix-Trench G; Brennan PJ; Haiman CA; Simard J; Easton DF; Gruber SB; Pharoah PDP; Price AL; Pasaniuc B; Amos CI; Kraft P; Lindstrom S
• Conference publication: 2019

  Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

  G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
• Preprint: BIORXIV. 2019

  Physical activity and risks of breast and colorectal cancer: A Mendelian randomization analysis

  Papadimitriou N; Dimou N; Tsilidis K; Banbury B; Martin R; Lewis S; Kazmi N; Robinson T; Albanes D; Aleksandrova K; Berndt S; Bishop T; Brenner H; Buchanan D; Bueno-de-Mesquita B; Campbell P; Castellví-Bel S; Chan A; Chang-Claude J; Ellingjord-Dale M; Figueiredo J; Gallinger S; Giles G; Giovannucci E; Gruber S; Gsur A; Hampe J; Hampel H; Harlid S; Harrison T; Hoffmeister M; Hopper J; Hsu L; Huerta JM; Huyghe J; Jenkins M; Keku T; Kühn T; Vecchia CL; Marchand LL; Li C; Li L; Lindblom A; Lindor N; Lynch B; Markowitz S; Masala G; May A; Milne R; Monninkhof E; Moreno L; Moreno V; Newcomb P; Offit K; Perduca V; Pharoah P; Platz E; Potter J; Rennert G; Riboli E; Sánchez M-J; Schmit S; Schoen R; Severi G; Sieri S; Slattery M; Song M; Tangen C; Thibodeau S; Travis R; Trichopoulou A; Ulrich C; van Duijnhoven FJB; Van Guelpen B; Vodicka P; White E; Wolk A; Woods M; Wu A; Peters U; Gunter M; Murphy N
• Doctoral thesis: 2019

  Somatic mutations in healthy cells and age-associated diseases

  Helgadóttir H
• Article: PARKINSONISM & RELATED DISORDERS. 2019;66:158-165

  Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

  Puschmann A; Jimenez-Ferrer I; Lundblad-Andersson E; Martensson E; Hansson O; Odin P; Widner H; Brolin K; Mzezewa R; Kristensen J; Soller M; Rodstrom EY; Ross OA; Toft M; Breedveld GJ; Bonifati V; Brodin L; Zettergren A; Sydow O; Linder J; Wirdefeldt K; Svenningsson P; Nissbrandt H; Belin AC; Forsgren L; Swanberg M
• Article: CLINICAL GENETICS. 2019;96(3):216-225

  Functional characterization of novel germline TP53 variants in Swedish families

  Kharaziha P; Ceder S; Axell O; Krall M; Fotouhi O; Bohm S; Lain S; Borg A; Larsson C; Wiman KG; Tham E; Bajalica-Lagercrantz S
• Article: STEM CELLS AND DEVELOPMENT. 2019;28(17):1177-1190

  Hyaluronan Hydrogels for the Local Delivery of Mesenchymal Stromal Cells to the Injured Vocal Fold

  Hertegard S; Nagubothu SR; Malmstrom E; Strom CE; Tolf A; Davies LC; Le Blanc K
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(9):103554

  Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux

  ul Ain N; Iqbal M; Valta H; Emerling CA; Ahmed S; Makitie O; Naz S
• Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2019;91:85

  Increased burden of common risk alleles in children with a significant fracture history

  Manousaki D; Kampe A; Forgetta V; Makitie R; Bardai G; Belisle A; Li R; Makitie O; Rauch F; Richards B
• Article: BLOOD ADVANCES. 2019;3(16):2474-2481

  Clinical significance of DNA methylation in chronic lymphocytic leukemia patients: results from 3 UK clinical trials

  Wojdacz TK; Amarasinghe HE; Kadalayil L; Beattie A; Forster J; Blakemore SJ; Parker H; Bryant D; Larrayoz M; Clifford R; Robbe P; Davis ZA; Else M; Howard DR; Stamatopoulos B; Steele AJ; Rosenquist R; Collins A; Pettitt AR; Hillmen P; Plass C; Schuh A; Catovsky D; Oscier DG; Rose-Zerilli MJJ; Oakes CC; Strefford JC
• Article: HUMAN MOLECULAR GENETICS. 2019;28(16):2675-2685

  Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient

  Helgadottir H; Lundin P; Arzt EW; Lindstrom A-K; Graff C; Eriksson M
• Preprint: BIORXIV. 2019

  Common variants in breast cancer risk loci predispose to distinct tumor subtypes

  Ahearn T; Zhang H; Michailidou K; Milne R; Bolla M; Dennis J; Dunning A; Lush M; Wang Q; Andrulis I; Anton-Culver H; Arndt V; Aronson K; Auer P; Augustinsson A; Baten A; Becher H; Behrens S; Benitez J; Bermisheva M; Blomqvist C; Bojesen S; Bonanni B; Børresen-Dale A-L; Brauch H; Brenner H; Brooks-Wilson A; Brüning T; Burwinkel B; Buys S; Canzian F; Castelao J; Chang-Claude J; Chanock S; Chenevix-Trench G; Clarke C; NBCS Collaborators; Collée M; Cox A; Cross S; Czene K; Daly M; Devilee P; Dörk T; Dwek M; Dwek M; Eccles D; Evans G; Fasching P; Figueroa J; Floris G; Gago-Dominguez M; Gapstur S; García-Sáenz J; Gaudet M; Giles G; Goldberg M; González-Neira A; GrenakerAlnæs G; Grip M; Guénel P; Haiman C; Hall P; Hamann U; Harkness E; Heemskerk-Gerritsen BAM; Holleczek B; Hollestelle A; Hooning M; Hoover R; Hopper J; Howell A; kConFab/AOCS Investigators; Jakimovska M; Jakubowska A; John E; Jones M; Jung A; Kaaks R; Kauppila S; Keeman R; Khusnutdinova E; Kitahara C; Ko Y-D; Koutros S; Kristensen V; Krüger U; Kubelka-Sabit K; Kurian A; Kyriacou K; Lambrechts D; Lee D; Lindblom A; Linet M; Lissowska J; Llaneza A; Lo W-Y; MacInnis R; Mannermaa A; Manoochehri M; Margolin S; Martinez ME; McLean C; Meindl A; Menon U; Menon U; Nevanlinna H; Newman W; Nodora J; Offit K; Olsson H; Orr N; Park-Simon T-W; Patel A; Peto J; Pita G; Plaseska-Karanfilska D; Prentice R; Punie K; Pylkäs K; Radice P; Rennert G; Romero A; Rüdiger T; Saloustros E; Sampson S; Sandler D; Sawyer E; Schmutzler R; Schoemaker M; Schöttker B; Sherman M; Shu X-O; Smichkoska S; Southey M; Spinelli J; Swerdlow A; Tamimi R; Tapper W; Taylor J; Teras L; Terry MB; Torres D; Troester M; Vachon C; van Deurzen CHM; van Veen E; Wagner P; Weinberg C; Wendt C; Wesseling J; Winqvist R; Wolk A; Yang X; Zheng W; Couch F; Simard J; Kraft P; Easton D; Pharoah PDP; Schmidt M; García-Closas M; Chatterjee N
• Article: FRONTIERS IN ENDOCRINOLOGY. 2019;10:555

  Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue

  Utriainen P; Suominen A; Makitie O; Jahnukainen K
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27(8):1286-1295

  Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively

  von Holst S; Jiao X; Liu W; Kontham V; Thutkawkorapin J; Ringdahl J; Bryant P; Lindblom A
• Article: CLINICAL GENETICS. 2019;96(2):118-125

  Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

  Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
• Review: JOURNAL OF INTERNAL MEDICINE. 2019;286(2):118-136

  Cell-free tumour DNA testing for early detection of cancer - a potential future tool

  Barbany G; Arthur C; Lieden A; Nordenskjold M; Rosenquist R; Tesi B; Wallander K; Tham E
• Article: FRONTIERS IN IMMUNOLOGY. 2019;10:1581

  A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia

  Vakkilainen S; Taskinen M; Klemetti P; Pukkala E; Makitie O
• Article: BRITISH JOURNAL OF CANCER. 2019;121(2):180-192

  Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

  Qian F; Rookus MA; Leslie G; Risch HA; Greene MH; Aalfs CM; Adank MA; Adlard J; Agnarsson BA; Ahmed M; Aittomaki K; Andrulis IL; Arnold N; Arun BK; Ausems MGEM; Azzollini J; Barrowdale D; Barwell J; Benitez J; Bialkowska K; Bonadona V; Borde J; Borg A; Bradbury AR; Brunet J; Buys SS; Caldes T; Caligo MA; Campbell I; Carter J; Chiquette J; Chung WK; Claes KBM; Collee JM; Collonge-Rame M-A; Couch FJ; Daly MB; Delnatte C; Diez O; Domchek SM; Dorfling CM; Eason J; Easton DF; Eeles R; Engel C; Evans DG; Faivre L; Feliubado L; Foretova L; Friedman E; Frost D; Ganz PA; Garber J; Garcia-Barberan V; Gehrig A; Glendon G; Godwin AK; Garcia EBG; Hamann U; Hauke J; Hopper JL; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Jakubowska A; Janavicius R; John EM; Karlan BY; Kets CM; Laitman Y; Lazaro C; Leroux D; Lester J; Lesueur F; Loud JT; Lubinski J; Lukomska A; McGuffog L; Mebirouk N; Meijers-Heijboer HEJ; Meindl A; Miller A; Montagna M; Mooij TM; Mouret-Fourme E; Nathanson KL; Nehoray B; Neuhausen SL; Nevanlinna H; Nielsen FC; Offit K; Olah E; Ong K-R; Oosterwijk JC; Ottini L; Parsons MT; Peterlongo P; Pfeiler G; Pradhan N; Radice P; Ramus SJ; Rantala J; Rennert G; Robson M; Rodriguez GC; Salani R; Scheuner MT; Schmutzler RK; Shah PD; Side LE; Simard J; Singer CF; Steinemann D; Stoppa-Lyonnet D; Tan YY; Teixeira MR; Terry MB; Thomassen M; Tischkowitz M; Tognazzo S; Toland AE; Tung N; van Asperen CJ; van Engelen K; van Rensburg EJ; Venat-Bouvet L; Vierstraete J; Wagner G; Walker L; Weitze JN; Yannoukakos D; Antoniou AC; Goldgar DE; Olopade OI; Chenevix-Trench G; Rebbeck TR; Huo D
• Corrigendum: HUMAN GENETICS. 2019;138(7):789-791

  Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (vol 138, pg 307, 2019)

  Bien SA; Su Y-R; Conti DV; Harrison TA; Qu C; Guo X; Lu Y; Albanes D; Auer PL; Banbury BL; Berndt SI; Bezieau S; Brenner H; Buchanan DD; Caan BJ; Campbell PT; Carlson CS; Chan AT; Chang-Claude J; Chen S; Connolly CM; Easton DF; Feskens EJM; Gallinger S; Giles GG; Gunter MJ; Hampe J; Huyghe JR; Hoffmeister M; Hudson TJ; Jacobs EJ; Jenkins MA; Kampman E; Kang HM; Kuehn T; Kury S; Lejbkowicz F; Le Marchand L; Milne RL; Li L; Li CI; Lindblom A; Lindor NM; Martin V; McNeil CE; Melas M; Moreno V; Newcomb PA; Offit K; Pharaoh PDP; Potter JD; Qu C; Riboli E; Rennert G; Sala N; Schafmayer C; Scacheri PC; Schmit SL; Severi G; Slattery ML; Smith JD; Trichopoulou A; Tumino R; Ulrich CM; van Duijnhoven FJB; Van Guelpen B; Weinstein SJ; White E; Wolk A; Woods MO; Wu AH; Abecasis GR; Casey G; Nickerson DA; Gruber SB; Hsu L; Zheng W; Peters U
• Article: MODERN PATHOLOGY. 2019;32(8):1082-1094

  Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center

  Juhlin CC; Nilsson I-L; Lagerstedt-Robinson K; Stenman A; Branstrom R; Tham E; Hoog A
• Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2019;144(1):327-330.e8

  The autoimmune targets in IPEX are dominated by gut epithelial proteins

  Eriksson D; Bacchetta R; Gunnarsson HI; Chan A; Barzaghi F; Ehl S; Hallgren A; van Gool F; Sardh F; Lundqvist C; Laakso SM; Ronnblom A; Ekwall O; Makitie O; Bensing S; Husebye ES; Anderson M; Kampe O; Landegren N
• Letter: LEUKEMIA. 2019;33(7):1801-1805

  Different time-dependent changes of risk for evolution in chronic lymphocytic leukemia with mutated or unmutated antigen B cell receptors

  Moysiadis T; Baliakas P; Rossi D; Catherwood M; Strefford JC; Delgado J; Anagnostopoulos A; Belessi C; Stavroyianni N; Pospisilova S; Oscier D; Gaidano G; Campo E; Rosenquist R; Ghia P; Stamatopoulos K
• Meeting abstract: CANCER RESEARCH. 2019;79(13):105

  MTH1 promotes mitotic progression to avoid oxidative DNA damage in cancer cells

  Sanjiv K; Gad H; Rudd SG; Mortusewicz O; Stolz A; Amaral N; Brautigham L; Pudelko L; Kalderen C; Jemth A-S; Almlof I; Visnes T; Schultz N; Bostrom J; Montano JMC; Hagenkort A; Groth P; Gokturk C; Koolmeister T; Wakchaure P; Homan E; Altun M; Strom C; Scobie M; Bastians H; Berglund UW; Helleday T
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124

  PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization

  Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:629

  Altered microRNA profile in osteoporosis caused by impaired WNT signaling

  Maekitie RE; Hackl M; Niinimaki R; Kakko S; Grillari J; Makitie O
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:794-795

  Genome wide detection of somatic mutations in human muscle stem cells

  Franco I; Johansson A; Olsson K; Vrtacnik P; Lundin P; Helgadottir HT; Larsson M; Revechon G; Bosia C; Pagnani A; Provero P; Gustafsson T; Fischer H; Eriksson M
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:933

  A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

  Loid P; Makitie R; Costantini A; Viljakainen H; Pekkinen M; Makitie O
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:110-111

  Novel clinical features in frontometaphyseal dysplasia 2 caused by a recurrent mutation in MAP3K7

  Costantini A; Wallgren-Pettersson C; Makitie O
• Conference publication: CANCER RESEARCH. 2019;79(13):2685

  Identification of circulating protein biomarkers for colorectal cancer risk: A genetic instrument analysis

  Shu X; Shu X-O; Long J; Cai Q; Qu C; Schmit SL; Qu C; Berndt SI; Campbell PT; Chan AT; Giles GG; Gsur A; Hoffmeister M; Jenkins MA; Markowitz SD; Li L; Rennert G; Offit K; Conti D; Lindblom A; Casey G; Gruber SB; Peters U; Zheng W
• Journal article: CANCER RESEARCH. 2019;79(13_Supplement):4924

  Abstract 4924: High ALDH1 expression in colorectal carcinoma could predict early onset of the disease

  Vermani L; Kumar NS; Talukdar A; Deka M; Kannan R; Kumar R
• Conference publication: 2019;:4924

  Abstract 4924: High ALDH1 expression in colorectal carcinoma could predict early onset of the disease

  Vermani L; Kumar NS; Talukdar A; Deka M; Kannan R; Kumar R
• Article: BLOOD ADVANCES. 2019;3(12):1891-1896

  Inhibition of EZH2 and immune signaling exerts synergistic antitumor effects in chronic lymphocytic leukemia

  Chartomatsidou E; Ntoufa S; Kotta K; Rovida A; Akritidou MA; Belloni D; Ferrero E; Trangas T; Stavroyianni N; Anagnostopoulos A; Rosenquist R; Ghia P; Papakonstantinou N; Stamatopoulos K
• Article: SCIENCE TRANSLATIONAL MEDICINE. 2019;11(497):eaav5599

  Targetable genetic alterations of TCF4 (E2-2) drive immunoglobulin expression in diffuse large B cell lymphoma

  Jain N; Hartert K; Tadros S; Fiskus W; Havranek O; Ma MCJ; Bouska A; Heavican T; Kumar D; Deng Q; Moore D; Pak C; Liu CL; Gentles AJ; Hartmann E; Kridel R; Smedby KE; Juliusson G; Rosenquist R; Gascoyne RD; Rosenwald A; Giancotti F; Neelapu SS; Westin J; Vose JM; Lunning MA; Greiner T; Rodig S; Iqbal J; Alizadeh AA; Davis RE; Bhalla K; Green MR
• Article: CLINICAL CANCER RESEARCH. 2019;25(12):3702-3717

  A Novel ACKR2-Dependent Role of Fibroblast-Derived CXCL14 in Epithelial-to-Mesenchymal Transition and Metastasis of Breast Cancer

  Sjoberg E; Meyrath M; Milde L; Herrera M; Lovrot J; Hagerstrand D; Frings O; Bartish M; Rolny C; Sonnhammer E; Andy CE; Augsten M; Ostman A
• Article: LEUKEMIA & LYMPHOMA. 2019;60(7):1685-1692

  Skewing of the T-cell receptor repertoire in patients receiving rituximab after allogeneic hematopoietic cell transplantation: what lies beneath?

  Papalexandri A; Karypidou M; Stalika E; Kotta K; Touloumenidou T; Zerva P; Paleta A; Mallouri D; Batsis I; Sakellari I; Kotsianidis I; Anagnostopoulos A; Hadzidimitriou A; Margaritis D; Stamatopoulos K
• Article: PEDIATRIC TRANSPLANTATION. 2019;23(4):e13408

  Strong expression of p53 protein in bone marrow samples after hematopoietic stem cell transplantation indicates risk of relapse in pediatric acute lymphoblastic leukemia patients

  Mattsson K; Honkaniemi E; Ramme K; Barbany G; Sander BM; Gustafsson BM
• Article: JOURNAL OF PEDIATRICS. 2019;209:139-145.e1

  High-Dose Vitamin D Supplementation Does Not Prevent Allergic Sensitization of Infants

  Rosendahl J; Pelkonen AS; Helve O; Hauta-alus H; Holmlund-Suila E; Valkama S; Enlund-Cerullo M; Viljakainen H; Hytinantti T; Makitie O; Andersson S; Makela MJ
• Article: INTERNATIONAL JOURNAL OF CANCER. 2019;144(11):2695-2706

  Integrated epigenomic and transcriptomic analysis reveals TP63 as a novel player in clinically aggressive chronic lymphocytic leukemia

  Papakonstantinou N; Ntoufa S; Tsagiopoulou M; Moysiadis T; Bhoi S; Malousi A; Psomopoulos F; Mansouri L; Laidou S; Papazoglou D; Gounari M; Pasentsis K; Plevova K; Kuci-Emruli V; Duran-Ferrer M; Davis Z; Ek S; Rossi D; Gaidano G; Ritgen M; Oscier D; Stavroyianni N; Pospisilova S; Davi F; Ghia P; Hadzidimitriou A; Belessi C; Martin-Subero JI; Pott C; Rosenquist R; Stamatopoulos K
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2019;34(6):1129-1142

  Mesenchymal Cell-Derived Juxtacrine Wnt1 Signaling Regulates Osteoblast Activity and Osteoclast Differentiation

  Wang F; Tarkkonen K; Nieminen-Pihala V; Nagano K; Al Majidi R; Puolakkainen T; Rummukainen P; Lehto J; Roivainen A; Zhang F-P; Makitie O; Baron R; Kiviranta R
• Article: INTERNATIONAL JOURNAL OF EPIDEMIOLOGY. 2019;48(3):767-780

  Mendelian randomization analysis of C-reactive protein on colorectal cancer risk

  Wang X; Dai JY; Albanes D; Arndt V; Berndt SI; Bezieau S; Brenner H; Buchanan DD; Butterbach K; Caan B; Casey G; Campbell PT; Chan AT; Chen Z; Chang-Claude J; Cotterchio M; Easton DF; Giles GG; Giovannucci E; Grady WM; Hoffmeister M; Hopper JL; Hsu L; Jenkins MA; Joshi AD; Lampe JW; Larsson SC; Lejbkowicz F; Li L; Lindblom A; Le Marchand L; Martin V; Milne RL; Moreno V; Newcomb PA; Offitt K; Ogino S; Pharoah PDP; Pinchev M; Potter JD; Rennert HS; Rennert G; Saliba W; Schafmayer C; Schoen RE; Schrotz-King P; Slattery ML; Song M; Stegmaier C; Weinstein SJ; Wolk A; Woods MO; Wu AH; Gruber SB; Peters U; White E
• Doctoral thesis: 2019

  Genetic causes and molecular mechanisms underlying rare metabolic bone diseases

  Costantini A
• Article: ENDOCRINE CONNECTIONS. 2019;8(5):559-570

  A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects

  Einarsdottir E; Pekkinen M; Krjutskov K; Katayama S; Kere J; Makitie O; Viljakainen H
• Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(5):e605

  Exome sequencing in 51 early onset non-familial CRC cases

  Thutkawkorapin J; Lindblom AL; Tham E
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(4):708-712

  Expression of GNAZ, encoding the Gα_z protein, predicts survival in mantle cell lymphoma

  Mundt F; Merrien M; Nygren L; Sutton LA; Christensson B; Wahlin BE; Rosenquist R; Sander B; Wasik AM
• Letter: HAEMATOLOGICA. 2019;104(5):e208-e210

  Long-term real-world results of ibrutinib therapy in patients with relapsed or refractory chronic lymphocytic leukemia: 30-month follow up of the Swedish compassionate use cohort

  Winqvist M; Andersson P-O; Asklid A; Karlsson K; Karlsson C; Lauri B; Lundin J; Mattsson M; Norin S; Sandstedt A; Rosenquist R; Spath F; Hansson L; Osterborg A
• Corrigendum: JOURNAL OF BIOMEDICAL SCIENCE. 2019;26(1):31

  Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

  Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
• Article: NATURE COMMUNICATIONS. 2019;10(1):1741

  Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

  Ferreira MA; Gamazon ER; Al-Ejeh F; Aittomaki K; Andrulis IL; Anton-Culver H; Arason A; Arndt V; Aronson KJ; Arun BK; Asseryanis E; Azzollini J; Balmana J; Barnes DR; Barrowdale D; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bialkowska K; Blomqvist C; Bogdanova NV; Bojesen SE; Bolla MK; Borg A; Brauch H; Brenner H; Broeks A; Burwinkel B; Caldes T; Caligo MA; Campa D; Campbell I; Canzian F; Carter J; Carter BD; Castelao JE; Chang-Claude J; Chanock SJ; Christiansen H; Chung WK; Claes KBM; Clarke CL; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; de la Hoya M; Dennis J; Devilee P; Diez O; Doerk T; Dunning AM; Dwek M; Eccles DM; Ejlertsen B; Ellberg C; Engel C; Eriksson M; Fasching PA; Fletcher O; Flyger H; Friedman E; Frost D; Gabrielson M; Gago-Dominguez M; Ganz PA; Gapstur SM; Garber J; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; Giles GG; Glendon G; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Gronwald J; Guenel P; Haiman CA; Hall P; Hamann U; He W; Heyworth J; Hogervorst FBL; Hollestelle A; Hoover RN; Hopper JL; Hulick PJ; Humphreys K; Imyanitov EN; Isaacs C; Jakimovska M; Jakubowska A; James PA; Janavicius R; Jankowitz RC; John EM; Johnson N; Joseph V; Karlan BY; Khusnutdinova E; Kiiski JI; Ko Y-D; Jones ME; Konstantopoulou I; Kristensen VN; Laitman Y; Lambrechts D; Lazaro C; Leslie G; Lester J; Lesueur F; Lindstrom S; Long J; Loud JT; Lubinski J; Makalic E; Mannermaa A; Manoochehri M; Margolin S; Maurer T; Mavroudis D; McGuffog L; Meindl A; Menon U; Michailidou K; Miller A; Montagna M; Moreno F; Moserle L; Mulligan AM; Nathanson KL; Neuhausen SL; Nevanlinna H; Nevelsteen I; Nielsen FC; Nikitina-Zake L; Nussbaum RL; Offit K; Olah E; Olopade OI; Olsson H; Osorio A; Papp J; Park-Simon T-W; Parsons MT; Pedersen IS; Peixoto A; Peterlongo P; Pharoah PDP; Plaseska-Karanfilska D; Poppe B; Presneau N; Radice P; Rantala J; Rennert G; Risch HA; Saloustros E; Sanden K; Sawyer EJ; Schmidt MK; Schmutzler RK; Sharma P; Shu X-O; Simard J; Singer CF; Soucy P; Southey MC; Spinelli JJ; Spurdle AB; Stone J; Swerdlow AJ; Tapper WJ; Taylor JA; Teixeira MR; Terry MB; Teule A; Thomassen M; Thoene K; Thull DL; Tischkowitz M; Toland AE; Torres D; Truong T; Tung N; Vachon CM; van Asperen CJ; van den Ouweland AMW; van Rensburg EJ; Vega A; Viel A; Wang Q; Wappenschmidt B; Weitzel JN; Wendt C; Winqvist R; Yang XR; Yannoukakos D; Ziogas A; Kraft P; Antoniou AC; Zheng W; Easton DF; Milne RL; Beesley J; Chenevix-Trench G; Arnold N; Auber B; Bogdanova-Markov N; Borde J; Caliebe A; Ditsch N; Dworniczak B; Engert S; Faust U; Gehrig A; Hahnen E; Hauke J; Hentschel J; Herold N; Honisch E; Just W; Kast K; Larsen M; Lemke J; Huu PN; Niederacher D; Ott C-E; Platzer K; Pohl-Rescigno E; Ramser J; Rhiem K; Steinemann D; Sutter C; Varon-Mateeva R; Wang-Gohrke S; Weber BHF; Prieur F; Pujol P; Sagne C; Sevenet N; Sobol H; Sokolowska J; Stoppa-Lyonnet D; Venat-Bouvet L; Adlard J; Ahmed M; Barwell J; Brady A; Brewer C; Cook J; Davidson R; Donaldson A; Eason J; Eeles R; Evans DG; Gregory H; Hanson H; Henderson A; Hodgson S; Izatt L; Kennedy MJ; Lalloo F; Miller C; Morrison PJ; Ong K-R; Perkins J; Porteous ME; Rogers MT; Side LE; Snape K; Walker L; Harrington PA; Heemskerk-Gerritsen BAM; Rookus MA; Seynaeve CM; van der Baan FH; van der Hout AH; van der Kolk LE; van der Luijt RB; van Deurzen CHM; van Doorn HC; van Engelen K; van Hest L; van Os TAM; Verhoef S; Vogel MJ; Wijnen JT; Miron A; Kapuscinski M; Bane A; Ross E; Buys SS; Conner TA; Balleine R; Baxter R; Braye S; Carpenter J; Dahlstrom J; Forbes J; Lee SC; Marsh D; Morey A; Pathmanathan N; Simpson P; Spigelman A; Wilcken N; Yip D
• Article: JCI INSIGHT. 2019;4(7):126180

  Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

  Pekkinen M; Terhal PA; Botto LD; Henning P; Makitie RE; Roschger P; Jain A; Kol M; Kjellberg MA; Paschalis EP; van Lassen K; Murray M; Bayrak-Toydemir P; Magnusson MK; Jans J; Kausar M; Carey JC; Somerharju P; Lerner UH; Olkkonen VM; Klaushofer K; Holthuis JCM; Makitie O
• Review: CYTOTHERAPY. 2019;21(4):380-392

  Pleiotropic roles of autophagy in stem cell-based therapies

  Beljanski V; Grinnemo K-H; Osterholm C
• Article: BONE. 2019;121:163-171

  Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

  Costantini A; Valta H; Baratang NV; Yap P; Bertola DR; Yamamoto GL; Kim CA; Chen J; Wierenga KJ; Fanning EA; Escobar L; McWalter K; McLaughlin H; Willaert R; Begtrup A; Alm JJ; Reinhardt DP; Makitie O; Campeau PM
• Article: JOURNAL OF PATHOLOGY. 2019;247(4):416-421

  Disease-biased and shared characteristics of the immunoglobulin gene repertoires in marginal zone B cell lymphoproliferations

  Xochelli A; Bikos V; Polychronidou E; Galigalidou C; Agathangelidis A; Charlotte F; Moschonas P; Davis Z; Colombo M; Roumelioti M; Sutton L-A; Groenen P; van den Brand M; Boudjoghra M; Algara P; Traverse-Glehen A; Ferrer A; Stalika E; Karypidou M; Kanellis G; Kalpadakis C; Mollejo M; Pangalis G; Vlamos P; Amini R-M; Pospisilova S; Gonzalez D; Ponzoni M; Anagnostopoulos A; Giudicelli V; Lefranc M-P; Espinet B; Panagiotidis P; Piris MA; Du M-Q; Rosenquist R; Papadaki T; Belessi C; Ferrarini M; Oscier D; Tzovaras D; Ghia P; Davi F; Hadzidimitriou A; Stamatopoulos K
• Article: NATURE MEDICINE. 2019;25(4):583-590

  Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

  Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2019;111(4):350-364

  Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

  Qian F; Wang S; Mitchell J; McGuffog L; Barrowdale D; Leslie G; Oosterwijk JC; Chung WK; Evans DG; Engel C; Kast K; Aalfs CM; Adank MA; Adlard J; Agnarsson BA; Aittomaki K; Alducci E; Andrulis IL; Arun BK; Ausems MGEM; Azzollini J; Barouk-Simonet E; Barwell J; Belotti M; Benitez J; Berger A; Borg A; Bradbury AR; Brunet J; Buys SS; Caldes T; Caligo MA; Campbell I; Caputo SM; Chiquette J; Claes KBM; Collee JM; Couch FJ; Coupier I; Daly MB; Davidson R; Diez O; Domchek SM; Donaldson A; Dorfling CM; Eeles R; Feliubadalo L; Foretova L; Fowler J; Friedman E; Frost D; Ganz PA; Garber J; Garcia-Barberan V; Glendon G; Godwin AK; Gomez Garcia EB; Gronwald J; Hahnen E; Hamann U; Henderson A; Hendricks CB; Hopper JL; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Izquierdo A; Jakubowska A; Kaczmarek K; Kang E; Karlan BY; Kets CM; Kim S-W; Kim Z; Kwong A; Laitman Y; Lasset C; Lee MH; Lee JW; Lee J; Lester J; Lesueur F; Loud JT; Lubinski J; Mebirouk N; Meijers-Heijboer HEJ; Meindl A; Miller A; Montagna M; Mooij TM; Morrison PJ; Mouret-Fourme E; Nathanson KL; Neuhausen SL; Nevanlinna H; Niederacher D; Nielsen FC; Nussbaum RL; Offit K; Olah E; Ong K-R; Ottini L; Park SK; Peterlongo P; Pfeiler G; Phelan CM; Poppe B; Pradhan N; Radice P; Ramus SJ; Rantala J; Robson M; Rodriguez GC; Schmutzler RK; Selkirk CGH; Shah PD; Simard J; Singer CF; Sokolowska J; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teo SH; Terry MB; Thomassen M; Tischkowitz M; Toland AE; Tucker KM; Tung N; van Asperen CJ; van Engelen K; van Rensburg EJ; Wang-Gohrke S; Wappenschmidt B; Weitzel JN; Yannoukakos D; Greene MH; Rookus MA; Easton DF; Chenevix-Trench G; Antoniou AC; Goldgar DE; Olopade OI; Rebbeck TR; Huo D
• Article: FAMILIAL CANCER. 2019;18(2):281-284

  Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

  Vos JR; Giepmans L; Roehl C; Geverink N; Hoogerbrugge N; Ligtenberg M; Kets M; Sijmons R; Evans G; Woodward E; Tischkowitz M; Maher E; Steinke-Lange V; Holinski-Feder E; Frebourg T; Houdayer C; Ferner RE; Lubinski J; Ertmanska K; Bajalica Lagercrantz S; Tham E; Guillermo IB; Capella G; Vidal JB; Lazaro C; Balmana J; Bours V; Legius E; Wolkenstein P; Melegh B; Oliveira C; Teixeira M; Poppe B; Claes K; Hernandez HS; Aretz S; Spier I; Oostenbrink R; Krajc M; Blatnik A; Schrock E; Peltonen S; Hietala M
• Article: HUMAN GENETICS. 2019;138(4):307-326

  Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

  Bien SA; Su Y-R; Conti DV; Harrison TA; Qu C; Guo X; Lu Y; Albanes D; Auer PL; Banbury BL; Berndt SI; Bezieau S; Brenner H; Buchanan DD; Caan BJ; Campbell PT; Carlson CS; Chan AT; Chang-Claude J; Chen S; Connolly CM; Easton DF; Feskens EJM; Gallinger S; Giles GG; Gunter MJ; Hampe J; Huyghe JR; Hoffmeister M; Hudson TJ; Jacobs EJ; Jenkins MA; Kampman E; Kang HM; Kuehn T; Kury S; Lejbkowicz F; Le Marchand L; Milne RL; Li L; Li CI; Lindblom A; Lindor NM; Martin V; McNeil CE; Melas M; Moreno V; Newcomb PA; Offit K; Pharaoh PDP; Potter JD; Qu C; Riboli E; Rennert G; Sala N; Schafmayer C; Scacheri PC; Schmit SL; Severi G; Slattery ML; Smith JD; Trichopoulou A; Tumino R; Ulrich CM; van Duijnhoven FJB; Van Guelpen B; Weinstein SJ; White E; Wolk A; Woods MO; Wu AH; Abecasis GR; Casey G; Nickerson DA; Gruber SB; Hsu L; Zheng W; Peters U
• Article: ATHEROSCLEROSIS. 2019;283:127-136

  Dual roles of heparanase in human carotid plaque calcification

  Aldi S; Eriksson L; Kronqvist M; Lengquist M; Lofling M; Folkersen L; Matic LP; Maegdefessel L; Grinnemo K-H; Li J-P; Osterholm C; Hedin U
• Letter: LEUKEMIA. 2019;33(4):1030-1051

  Dichotomous Toll-like receptor responses in chronic lymphocytic leukemia patients under ibrutinib treatment.

  Gounari M; Ntoufa S; Gerousi M; Vilia MG; Moysiadis T; Kotta K; Papakonstantinou N; Scarfò L; Agathangelidis A; Fonte E; Ranghetti P; Nenou A; Xochelli A; Coscia M; Tedeschi A; Stavroyianni N; Muzio M; Stamatopoulos K; Ghia P
• Article: BRITISH JOURNAL OF CANCER. 2019;120(6):647-657

  Genome-wide association study of germline variants and breast cancer-specific mortality

  Escala-Garcia M; Guo Q; Doerk T; Canisius S; Keeman R; Dennis J; Beesley J; Lecarpentier J; Bolla MK; Wang Q; Abraham J; Andrulis IL; Anton-Culver H; Arndt V; Auer PL; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bernstein L; Blomqvist C; Boeckx B; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brauch H; Brenner H; Brentnall A; Brinton L; Broberg P; Brock IW; Brucker SY; Burwinkel B; Caldas C; Caldes T; Campa D; Canzian F; Carracedo A; Carter BD; Castelao JE; Chang-Claude J; Chanock SJ; Chenevix-Trench G; Cheng T-YD; Chin S-F; Clarke CL; Cordina-Duverger E; Couch FJ; Cox DG; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Dunn JA; Dunning AM; Durcan L; Dwek M; Earl HM; Ekici AB; Eliassen AH; Ellberg C; Engel C; Eriksson M; Evans DG; Figueroa J; Flesch-Janys D; Flyger H; Gabrielson M; Gago-Dominguez M; Galle E; Gapstur SM; Garcia-Closas M; Garcia-Saenz JA; Gaudet MM; George A; Georgoulias V; Giles GG; Glendon G; Goldgar DE; Gonzalez-Neira A; Alnaes GIG; Grip M; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hakansson N; Hall P; Hamann U; Hankinson S; Harkness EF; Harrington PA; Hart SN; Hartikainen JM; Hein A; Hillemanns P; Hiller L; Holleczek B; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Howell A; Huang G; Humphreys K; Hunter DJ; Janni W; John EM; Jones ME; Jukkola-Vuorinen A; Jung A; Kaaks R; Kabisch M; Kaczmarek K; Kerin MJ; Khan S; Khusnutdinova E; Kiiski JI; Kitahara CM; Knight JA; Ko Y-D; Koppert LB; Kosma V-M; Kraft P; Kristensen VN; Kruger U; Kuehl T; Lambrechts D; Le Marchand L; Lee E; Lejbkowicz F; Li L; Lindblom A; Lindstrom S; Linet M; Lissowska J; Lo W-Y; Loibl S; Lubinski J; Lux MP; MacInnis RJ; Maierthaler M; Maishman T; Makalic E; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Mavroudis D; McLean C; Meindl A; Middha P; Miller N; Milne RL; Moreno F; Mulligan AM; Mulot C; Nassir R; Neuhausen SL; Newman WT; Nielsen SF; Nordestgaard BG; Norman A; Olsson H; Orr N; Pankratz VS; Park-Simon T-W; Perez JIA; Perez-Barrios C; Peterlongo P; Petridis C; Pinchev M; Prajzendanc K; Prentice R; Presneau N; Prokofieva D; Pylkas K; Rack B; Radice P; Ramachandran D; Rennert G; Rennert HS; Rhenius V; Romero A; Roylance R; Saloustros E; Sawyer EJ; Schmidt DF; Schmutzler RK; Schneeweiss A; Schoemaker MJ; Schumacher F; Schwentner L; Scott RJ; Scott C; Seynaeve C; Shah M; Simard J; Smeets A; Sohn C; Southey MC; Swerdlow AJ; Talhouk A; Tamimi RM; Tapper WJ; Teixeira MR; Tengstrom M; Terry MB; Thoene K; Tollenaar RAEM; Tomlinson I; Torres D; Truong T; Turman C; Turnbull C; Ulmer H-U; Untch M; Vachon C; van Asperen CJ; van den Ouweland AMW; van Veen EM; Wendt C; Whittemore AS; Willett W; Winqvist R; Wolk A; Yang XR; Zhang Y; Easton DF; Fasching PA; Nevanlinna H; Eccles DM; Pharoah PDP; Schmidt MK
• Article: FRONTIERS IN IMMUNOLOGY. 2019;10:455

  The Concerted Action of E2-2 and HEB Is Critical for Early Lymphoid Specification

  Bouderlique T; Pena-Perez L; Kharazi S; Hils M; Li X; Krstic A; De Paepe A; Schachtrup C; Gustafsson C; Holmberg D; Schachtrup K; Mansson R
• Article: BLOOD. 2019;133(11):1205-1216

  Cytogenetic complexity in chronic lymphocytic leukemia: definitions, associations, and clinical impact.

  Baliakas P; Jeromin S; Iskas M; Puiggros A; Plevova K; Nguyen-Khac F; Davis Z; Rigolin GM; Visentin A; Xochelli A; Delgado J; Baran-Marszak F; Stalika E; Abrisqueta P; Durechova K; Papaioannou G; Eclache V; Dimou M; Iliakis T; Collado R; Doubek M; Calasanz MJ; Ruiz-Xiville N; Moreno C; Jarosova M; Leeksma AC; Panayiotidis P; Podgornik H; Cymbalista F; Anagnostopoulos A; Trentin L; Stavroyianni N; Davi F; Ghia P; Kater AP; Cuneo A; Pospisilova S; Espinet B; Athanasiadou A; Oscier D; Haferlach C; Stamatopoulos K; ERIC, the European Research Initiative on CLL
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):439-453

  Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

  Chang HR; Cho SY; Lee JH; Lee E; Seo J; Lee HR; Cavalcanti DP; Makitie O; Valta H; Girisha KM; Lee C; Neethukrishna K; Bhavani GS; Shukla A; Nampoothiri S; Phadkei SR; Park MJ; Ikegawa S; Wang Z; Higgs MR; Stewart GS; Jung E; Lee M-S; Park JH; Lee EA; Kim H; Myung K; Jeon W; Lee K; Kim D; Kim O-H; Choi M; Lee H-W; Kim Y; Cho T-J
• Article: FRONTIERS IN GENETICS. 2019;10:144

  A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

  Kausar M; Chew EGY; Ullah H; Anees M; Khor CC; Foo IN; Makitie O; Siddiqi S
• Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549

  Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

  Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
• Article: STEM CELLS AND DEVELOPMENT. 2019;28(5):310-318

  Human Fetal Cardiac Mesenchymal Stromal Cells Differentiate In Vivo into Endothelial Cells and Contribute to Vasculogenesis in Immunocompetent Mice

  Ljung K; Gronlund A; Felldin U; Rodin S; Corbascio M; Osterholm C; Grinnemo K-H
• Article: MOLECULAR & CELLULAR PROTEOMICS. 2019;18(3):461-476

  A High-throughput Bead-based Affinity Assay Enables Analysis of Genital Protein Signatures in Women At Risk of HIV Infection

  Manberg A; Bradley F; Qundos U; Guthrie BL; Birse K; Noel-Romas L; Lindskog C; Bosire R; Kiarie J; Farquhar C; Burgener AD; Nilsson P; Broliden K
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2019;17:8

  Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

  Seppala TT; Ahadova A; Dominguez-Valentin M; Macrae F; Evans DG; Therkildsen C; Sampson J; Scott R; Burn J; Moeslein G; Bernstein I; Holinski-Feder E; Pylvanainen K; Renkonen-Sinisalo L; Lepisto A; Lautrup CK; Lindblom A; Plazzer J-P; Winship I; Tjandra D; Katz LH; Aretz S; Hueneburg R; Holzapfel S; Heinimann K; Della Valle A; Neffa F; Gluck N; Cappel WHDVTN; Vasen H; Morak M; Steinke-Lange V; Engel C; Rahner N; Schmiegel W; Vangala D; Thomas H; Green K; Lalloo F; Crosbie EJ; Hill J; Capella G; Pineda M; Navarro M; Blanco I; ten Broeke S; Nielsen M; Ljungmann K; Nakken S; Lindor N; Frayling I; Hovig E; Sunde L; Kloor M; Mecklin J-P; Kalager M; Moller P
• Review: ORPHANET JOURNAL OF RARE DISEASES. 2019;14(1):58

  FGF23 and its role in X-linked hypophosphatemia-related morbidity

  Beck-Nielsen SS; Mughal Z; Haffner D; Nilsson O; Levtchenko E; Ariceta G; Collantes CDL; Schnabel D; Jandhyala R; Makitie O
• Review: FRONTIERS IN ENDOCRINOLOGY. 2019;10:70

  New Insights Into Monogenic Causes of Osteoporosis

  Makitie RE; Costantini A; Kampe A; Alm JJ; Makitie O
• Article: ONCOGENE. 2019;38(7):965-979

  GABPA inhibits invasion/metastasis in papillary thyroid carcinoma by regulating DICER1 expression

  Yuan X; Mu N; Wang N; Straat K; Sofiadis A; Guo Y; Stenman A; Li K; Cheng G; Zhang L; Kong F; Ekblad L; Wennerberg J; Nilsson I-L; Juhlin CC; Larsson C; Xu D
• Article: BLOOD ADVANCES. 2019;3(3):384-396

  Genome-wide promoter methylation of hairy cell leukemia

  Arribas AJ; Rinaldi A; Chiodin G; Kwee I; Mensah AA; Cascione L; Rossi D; Kanduri M; Rosenquist R; Zucca E; Johnson PW; Gaidano G; Oakes CC; Bertoni F; Forconi F
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2019;111(2):146-157

  Novel Common Genetic Susceptibility Loci for Colorectal Cancer

  Schmit SL; Edlund CK; Schumacher FR; Gong J; Harrison TA; Huyghe JR; Qu C; Melas M; Van den Berg DJ; Wang H; Tring S; Plummer SJ; Albanes D; Alonso MH; Amos CI; Anton K; Aragaki AK; Arndt V; Barry EL; Berndt SI; Bezieau S; Bien S; Bloomer A; Boehm J; Boutron-Ruault M-C; Brenner H; Brezina S; Buchanan DD; Butterbach K; Caan BJ; Campbell PT; Carlson CS; Castelao JE; Chan AT; Chang-Claude J; Chanock SJ; Cheng I; Cheng Y-W; Chin LS; Church JM; Church T; Coetzee GA; Cotterchio M; Correa MC; Curtis KR; Duggan D; Easton DF; English D; Feskens EJM; Fischer R; FitzGerald LM; Fortini BK; Fritsche LG; Fuchs CS; Gago-Dominguez M; Gala M; Gallinger SJ; Gauderman WJ; Giles GG; Giovannucci EL; Gogarten SM; Gonzalez-Villalpando C; Gonzalez-Villalpando EM; Grady WM; Greenson JK; Gsur A; Gunter M; Haiman CA; Hampe J; Harlid S; Harju JF; Hayes RB; Hofer P; Hoffmeister M; Hopper JL; Huang S-C; Huerta JM; Hudson TJ; Hunter DJ; Idos GE; Iwasaki M; Jackson RD; Jacobs EJ; Jee SH; Jenkins MA; Jia W-H; Jiao S; Joshi AD; Kolonel LN; Kono S; Kooperberg C; Krogh V; Kuehn T; Kury S; LaCroix A; Laurie CA; Lejbkowicz F; Lemire M; Lenz H-J; Levine D; Li CI; Li L; Lieb W; Lin Y; Lindor NM; Liu Y-R; Loupakis F; Lu Y; Luh F; Ma J; Mancao C; Manion FJ; Markowitz SD; Martin V; Matsuda K; Matsuo K; McDonnell KJ; McNeil CE; Milne R; Molina AJ; Mukherjee B; Murphy N; Newcomb PA; Offit K; Omichessan H; Palli D; Cotore JPP; Perez-Mayoral J; Pharoah PD; Potter JD; Qu C; Raskin L; Rennert G; Rennert HS; Riggs BM; Schafmayer C; Schoen RE; Sellers TA; Seminara D; Severi G; Shi W; Shibata D; Shu X-O; Siegel EM; Slattery ML; Southey M; Stadler ZK; Stern MC; Stintzing S; Taverna D; Thibodeau SN; Thomas DC; Trichopoulou A; Tsugane S; Ulrich CM; van Duijnhoven FJB; van Guelpan B; Vijai J; Virtamo J; Weinstein SJ; White E; Win AK; Wolk A; Woods M; Wu AH; Wu K; Xiang Y-B; Yen Y; Zanke BW; Zeng Y-X; Zhang B; Zubair N; Kweon S-S; Figueiredo JC; Zheng W; Le Marchand L; Lindblom A; Moreno V; Peters U; Casey G; Hsu L; Conti DV; Gruber SB
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27(2):317-324

  A stroke gene panel for whole-exome sequencing

  Ilinca A; Samuelsson S; Piccinelli P; Soller M; Kristoffersson U; Lindgren AG
• Article: CLINICAL PEDIATRICS. 2019;58(2):241-244

  Vitamin D Status in Children With Hemato-Oncological Diseases in Northern Finland

  Lumme J; Mottonen M; Pokka T; Makitie O; Harila-Saari A; Niinimaki R
• Article: HAEMATOLOGICA. 2019;104(2):360-369

  Tailored approaches grounded on immunogenetic features for refined prognostication in chronic lymphocytic leukemia

  Baliakas P; Moysiadis T; Hadzidimitriou A; Xochelli A; Jeromin S; Agathangelidis A; Mattsson M; Sutton L-A; Minga E; Scarfo L; Rossi D; Davis Z; Villamor N; Parker H; Kotaskova J; Stalika E; Plevova K; Mansouri L; Cortese D; Navarro A; Delgado J; Larrayoz M; Young E; Anagnostopoulos A; Smedby KE; Juliusson G; Sheehy O; Catherwood M; Strefford JC; Stavroyianni N; Belessi C; Pospisilova S; Oscier D; Gaidano G; Campo E; Haferlach C; Ghia P; Rosenquist R; Stamatopoulos K
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2019;104(2):397-407

  High Pregnancy, Cord Blood, and Infant Vitamin D Concentrations May Predict Slower Infant Growth

  Hauta-alus HH; Kajantie E; Holmlund-Suila EM; Rosendahl J; Valkama SM; Enlund-Cerullo M; Helve OM; Hytinantti TK; Viljakainen H; Andersson S; Makitie O
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019;179(2):190-195

  Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females

  Holopainen E; Vakkilainen S; Makitie O
• Review: JOURNAL OF INTERNAL MEDICINE. 2019;285(2):187-204

  Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

  Muth A; Crona J; Gimm O; Elmgren A; Filipsson K; Askmalm MS; Sandstedt J; Tengvar M; Tham E
• Letter: CLINICAL CHEMISTRY. 2019;65(2):345-347

  Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR

  Taylan F; Bang B; Ofverholm II; Anh-Nhi T; Heyman M; Barbany G; Zachariadis V; Nordgren A
• Conference publication: JOURNAL OF CLINICAL IMMUNOLOGY. 2019;39:S31

  A 30-year Prospective Study Reveals Risk Factors for Malignancies and Early Death in Cartilage-hair Hypoplasia

  Vakkilainen S; Taskinen M; Klemetti P; Makitie O
• Article: NATURE COMMUNICATIONS. 2019;10(1):431

  Shared heritability and functional enrichment across six solid cancers

  Jiang X; Finucane HK; Schumacher FR; Schmit SL; Tyrer JP; Han Y; Michailidou K; Lesseur C; Kuchenbaecker KB; Dennis J; Conti DV; Casey G; Gaudet MM; Huyghe JR; Albanes D; Aldrich MC; Andrew AS; Andrulis IL; Anton-Culver H; Antoniou AC; Antonenkova NN; Arnold SM; Aronson KJ; Arun BK; Bandera EV; Barkardottir RB; Barnes DR; Batra J; Beckmann MW; Benitez J; Benlloch S; Berchuck A; Berndt SI; Bickeboeller H; Bien SA; Blomqvist C; Boccia S; Bogdanova NV; Bojesen SE; Bolla MK; Brauch H; Brenner H; Brenton JD; Brook MN; Brunet J; Brunnstrom H; Buchanan DD; Burwinkel B; Butzow R; Cadoni G; Caldes T; Caligo MA; Campbell I; Campbell PT; Cancel-Tassin G; Cannon-Albright L; Campa D; Caporaso N; Carvalho AL; Chan AT; Chang-Claude J; Chanock SJ; Chen C; Christiani DC; Claes KBM; Claessens F; Clements J; Collee JM; Correa MC; Couch FJ; Cox A; Cunningham JM; Cybulski C; Czene K; Daly MB; defazio A; Devilee P; Diez O; Gago-Dominguez M; Donovan JL; Doerk T; Duell EJ; Dunning AM; Dwek M; Eccles DM; Edlund CK; Edwards DRV; Ellberg C; Evans DG; Fasching PA; Ferris RL; Liloglou T; Figueiredo JC; Fletcher O; Fortner RT; Fostira F; Franceschi S; Friedman E; Gallinger SJ; Ganz PA; Garber J; Garcia-Saenz JA; Gayther SA; Giles GG; Godwin AK; Goldberg MS; Goldgar DE; Goode EL; Goodman MT; Goodman G; Grankvist K; Greene MH; Gronberg H; Gronwald J; Guenel P; Hakansson N; Hall P; Hamann U; Hamdy FC; Hamilton RJ; Hampe J; Haugen A; Heitz F; Herrero R; Hillemanns P; Hoffmeister M; Hogdall E; Hong Y-C; Hopper JL; Houlston R; Hulick PJ; Hunter DJ; Huntsman DG; Idos G; Imyanitov EN; Ingles SA; Isaacs C; Jakubowska A; James P; Jenkins MA; Johansson M; Johansson M; John EM; Joshi AD; Kaneva R; Karlan BY; Kelemen LE; Kuhl T; Khaw K-T; Khusnutdinova E; Kibel AS; Kiemeney LA; Kim J; Kjaer SK; Knight JA; Kogevinas M; Kote-Jarai Z; Koutros S; Kristensen VN; Kupryjanczyk J; Lacko M; Lam S; Lambrechts D; Landi MT; Lazarus P; Le ND; Lee E; Lejbkowicz F; Lenz H-J; Leslie G; Lessel D; Lester J; Levine DA; Li L; Li CI; Lindblom A; Lindor NM; Liu G; Loupakis F; Lubinski J; Maehle L; Maier C; Mannermaa A; Le Marchand L; Margolin S; May T; McGuffog L; Meindl A; Middha P; Miller A; Milne RL; MacInnis RJ; Modugno F; Montagna M; Moreno V; Moysich KB; Mucci L; Muir K; Mulligan AM; Nathanson KL; Neal DE; Ness AR; Neuhausen SL; Nevanlinna H; Newcomb PA; Newcomb LF; Nielsen FC; Nikitina-Zake L; Nordestgaard BG; Nussbaum RL; Offit K; Olah E; Al Olama AA; Olopade OI; Olshan AF; Olsson H; Osorio A; Pandha H; Park JY; Pashayan N; Parsons MT; Pejovic T; Penney KL; Peters WHM; Phelan CM; Phipps AI; Plaseska-Karanfilska D; Pring M; Prokofyeva D; Radice P; Stefansson K; Ramus SJ; Raskin L; Rennert G; Rennert HS; van Rensburg EJ; Riggan MJ; Risch HA; Risch A; Roobol MJ; Rosenstein BS; Rossing MA; De Ruyck K; Saloustros E; Sandler DP; Sawyer EJ; Schabath MB; Schleutker J; Schmidt MK; Setiawan VW; Shen H; Siegel EM; Sieh W; Singer CF; Slattery ML; Sorensen KD; Southey MC; Spurdle AB; Stanford JL; Stevens VL; Stintzing S; Stone J; Sundfeldt K; Sutphen R; Swerdlow AJ; Tajara EH; Tangen CM; Tardon A; Taylor JA; Teare MD; Teixeira MR; Terry MB; Terry KL; Thibodeau SN; Thomassen M; Bjorge L; Tischkowitz M; Toland AE; Torres D; Townsend PA; Travis RC; Tung N; Tworoger SS; Ulrich CM; Usmani N; Vachon CM; Van Nieuwenhuysen E; Vega A; Aguado-Barrera ME; Wang Q; Webb PM; Weinberg CR; Weinstein S; Weissler MC; Weitzel JN; West CML; White E; Whittemore AS; Wichmann H-E; Wiklund F; Winqvist R; Wolk A; Woll P; Woods M; Wu AH; Wu X; Yannoukakos D; Zheng W; Zienolddiny S; Ziogas A; Zorn KK; Lane JM; Saxena R; Thomas D; Hung RJ; Diergaarde B; Mckay J; Peters U; Hsu L; Garcia-Closas M; Eeles RA; Chenevix-Trench G; Brennan PJ; Haiman CA; Simard J; Easton DF; Gruber SB; Pharoah PDP; Price AL; Pasaniuc B; Amos CI; Kraft P; Lindstrom S
• Article: BLOOD ADVANCES. 2019;3(2):148-157

  Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL

  Hamadeh L; Enshaei A; Schwab C; Alonso CN; Attarbaschi A; Barbany G; den Boer ML; Boer JM; Braun M; Dalla Pozza L; Elitzur S; Emerenciano M; Fechina L; Felice MS; Fronkova E; Haltrich I; Heyman MM; Horibe K; Imamura T; Jeison M; Kovacs G; Kuiper RP; Mlynarski W; Nebra K; Ofverholm IL; Pastorczak A; Pieters R; Piko H; Pombo-de-Oliveira MS; Rubio P; Strehl S; Stary J; Sutton R; Trka J; Tsaur G; Venn N; Vora A; Yano M; Harrison CJ; Moorman AV; Barbieri C; Barbosa TC; Dalzell P; Digiorge JA; Druy A; Granado ET; Marshall G; Meciany T; Ng A
• Preprint: BIORXIV. 2019

  Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

  Fachal L; Aschard H; Beesley J; Barnes D; Allen J; Kar S; Pooley K; Dennis J; Michailidou K; Turman C; Soucy P; Lemaçon A; Lush M; Tyrer J; Ghoussaini M; Marjaneh MM; Jiang X; Agata S; Aittomäki K; Alonso R; Andrulis I; Anton-Culver H; Antonenkova N; Arason A; Arndt V; Aronson K; Arun B; Auber B; Auer P; Azzollini J; Balmaña J; Barkardottir R; Barrowdale D; Beeghly-Fadiel A; Benitez J; Bermisheva M; Bialkowska K; Blanco A; Blomqvist C; Blot W; Bogdanova N; Bojesen S; Bolla M; Bonanni B; Borg A; Bosse K; Brauch H; Brenner H; Briceno I; Brock I; Brooks-Wilson A; Brüning T; Burwinkel B; Buys S; Cai Q; Caldés T; Caligo M; Camp N; Campbell I; Canzian F; Carroll J; Carter B; Castelao J; Chiquette J; Christiansen H; Chung W; Claes KBM; Clarke C; Collaborators GEMOS; Collaborators EMBRACE; Collée M; Cornelissen S; Couch F; Cox A; Cross S; Cybulski C; Czene K; Daly M; la Hoya MD; Devilee P; Diez O; Ding YC; Dite G; Domchek S; Dörk T; dos-Santos-Silva I; Droit A; Dubois S; Dumont M; Duran M; Durcan L; Dwek M; Eccles D; Engel C; Eriksson M; Evans G; Fasching P; Fletcher O; Floris G; Flyger H; Foretova L; Foulkes W; Friedman E; Fritschi L; Frost D; Gabrielson M; Gago-Dominguez M; Gambino G; Ganz P; Gapstur S; Garber J; García-Sáenz J; Gaudet M; Georgoulias V; Giles G; Glendon G; Godwin A; Goldberg M; Goldgar D; González-Neira A; Greene M; Grip M; Gronwald J; Grundy A; Guénel P; Hahnen E; Haiman C; Håkansson N; Hall P; Hamann U; Harrington P; Hartikainen J; Hartman M; He W; Healey C; Heemskerk-Gerritsen BAM; Heyworth J; Hillemanns P; Hogervorst FBL; Hollestelle A; Hooning M; Hopper J; Howell A; Huang G; Hulick P; Imyanitov E; ABCTB Investigators; KConFab Investigators; HEBON Investigators; Isaacs C; Iwasaki M; Jager A; Jakimovska M; Jakubowska A; James P; Janavicius R; Jankowitz R; John E; Johnson N; Jones M; Jukkola-Vuorinen A; Jung A; Kaaks R; Kang D; Karlan B; Keeman R; Kerin M; Khusnutdinova E; Kiiski J; Kirk J; Kitahara C; Ko Y-D; Konstantopoulou I; Kosma V-M; Koutros S; Kubelka-Sabit K; Kwong A; Kyriacou K; Laitman Y; Lambrechts D; Lee E; Leslie G; Lester J; Lesueur F; Lindblom A; Lo W-Y; Long J; Lophatananon A; Loud J; Lubinski J; MacInnis R; Maishman T; Makalic E; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Matsuo K; Maurer T; Mavroudis D; Mayes R; McGuffog L; McLean C; Mebirouk N; Meindl A; Middha P; Miller N; Miller A; Montagna M; Moreno F; Mulligan AM; Muñoz-Garzon V; Muranen T; Narod S; Nassir R; Nathanson K; Neuhausen S; Nevanlinna H; Neven P; Nielsen F; Nikitina-Zake L; Norman A; Offit K; Olah E; Olopade O; Olsson H; Orr N; Osorio A; Pankratz S; Papp J; Park S; Park-S T-W
• Article: BMC CANCER. 2019;19(1):65

  DNA methylation associates with survival in non-metastatic clear cell renal cell carcinoma

  Evelonn EA; Landfors M; Haider Z; Kohn L; Ljungberg B; Roos G; Degerman S
• Article: PLOS ONE. 2019;14(1):e0210017

  Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

  Sahlin E; Green A; Gustavsson P; Lieden A; Nordenskjold M; Papadogiannakis N; Pettersson K; Nilsson D; Jonasson J; Iwarsson E
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(1):21-34

  Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

  Mavaddat N; Michailidou K; Dennis J; Lush M; Fachal L; Lee A; Tyrer JP; Chen T-H; Wang Q; Bolla MK; Yang X; Adank MA; Ahearn T; Aittomaki K; Allen J; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Aronson KJ; Auer PL; Auvinen P; Barrdahl M; Freeman LEB; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bernstein L; Blomqvist C; Bogdanova NV; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brauch H; Bremer M; Brenner H; Brentnall A; Brock IW; Brooks-Wilson A; Brucker SY; Bruening T; Burwinkel B; Campa D; Carter BD; Castelao JE; Chanock SJ; Chlebowski R; Christiansen H; Clarke CL; Collee JM; Cordina-Duverger E; Cornelissen S; Couch FJ; Cox A; Cross SS; Czene K; Daly MB; Devilee P; Doerk T; dos-Santos-Silva I; Dumont M; Durcan L; Dwek M; Eccles DM; Ekici AB; Eliassen AH; Ellberg C; Engel C; Eriksson M; Evans DG; Fasching PA; Figueroa J; Fletcher O; Flyger H; Foersti A; Fritschi L; Gabrielson M; Gago-Dominguez M; Gapstur SM; Garcia-Saenz JA; Gaudet MM; Georgoulias V; Giles GG; Gilyazova IR; Glendon G; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Alnaes GIG; Grip M; Gronwald J; Grundy A; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hakansson N; Hamann U; Hankinson SE; Harkness EF; Hart SN; He W; Hein A; Heyworth J; Hillemanns P; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Howell A; Huang G; Humphreys K; Hunter DJ; Jakimovska M; Jakubowska A; Janni W; John EM; Johnson N; Jones ME; Jukkola-Vuorinen A; Jung A; Kaaks R; Kaczmarek K; Kataja V; Keeman R; Kerin MJ; Khusnutdinova E; Kiiski JI; Knight JA; Ko Y-D; Kosma V-M; Koutros S; Kristensen VN; Kruger U; Kuehl T; Lambrechts D; Le Marchand L; Lee E; Lejbkowicz F; Lilyquist J; Lindblom A; Lindstrom S; Lissowska J; Lo W-Y; Loibl S; Long J; Lubinski J; Lux MP; MacInnis RJ; Maishman T; Makalic E; Kostovska IM; Mannermaa A; Manoukian S; Margolin S; Martens JWM; Martinez ME; Mavroudis D; McLean C; Meindl A; Menon U; Middha P; Miller N; Moreno F; Mulligan AM; Mulot C; Munoz-Garzon VM; Neuhausen SL; Nevanlinna H; Neven P; Newman WG; Nielsen SF; Nordestgaard BG; Norman A; Offit K; Olson JE; Olsson H; Orr N; Pankratz VS; Park-Simon T-W; Perez JIA; Perez-Barrios C; Peterlongo P; Peto J; Pinchev M; Plaseska-Karanfilska D; Polley EC; Prentice R; Presneau N; Prokofyeva D; Purrington K; Pylkas K; Rack B; Radice P; Rau-Murthy R; Rennert G; Rennert HS; Rhenius V; Robson M; Romero A; Ruddy KJ; Ruebner M; Saloustros E; Sandler DP; Sawyer EJ; Schmidt DF; Schmutzler RK; Schneeweiss A; Schoemaker MJ; Schumacher F; Schuermann P; Schwentner L; Scott C; Scott RJ; Seynaeve C; Shah M; Sherman ME; Shrubsole MJ; Shu X-O; Slager S; Smeets A; Sohn C; Soucy P; Southey MC; Spinelli JJ; Stegmaier C; Stone J; Swerdlow AJ; Tamimi RM; Tapper WJ; Taylor JA; Terry MB; Thoene K; Tollenaar RAEM; Tomlinson I; Truong T; Tzardi M; Ulmer H-U; Untch M; Vachon CM; van Veen EM; Vijai J; Weinberg CR; Wendt C; Whittemore AS; Wildiers H; Willett W; Winqvist R; Wolk A; Yang XR; Yannoukakos D; Zhang Y; Zheng W; Ziogas A; Clarke C; Balleine R; Baxter R; Braye S; Carpenter J; Dahlstrom J; Forbes J; Lee CS; Marsh D; Morey A; Pathmanathan N; Scott R; Simpson P; Spigelman A; Wilcken N; Yip D; Zeps N; Sexton A; Dobrovic A; Christian A; Trainer A; Fellows A; Shelling A; De Fazio A; Blackburn A; Crook A; Meiser B; Patterson B; Clarke C; Saunders C; Hunt C; Scott C; Amor D; Ortega DG; Marsh D; Edkins E; Salisbury E; Haan E; Macrea F; Farshid G; Lindeman G; Trench G; Mann G; Giles G; Gill G; Thorne H; Campbell I; Hickie I; Caldon L; Winship I; Cui J; Flanagan J; Kollias J; Visvader J; Taylor J; Burke J; Saunus J; Forbs J; Hopper J; Beesley J; Kirk J; French J; Tucker K; Wu K; Phillips K; Forrest L; Lipton L; Andrews L; Lobb L; Walker L; Kentwell M; Spurdle M; Cummings M; Gleeson M; Harris M; Jenkins M; Young MA; Delatycki M; Wallis M; Burgess M; Brown M; Southey M; Bogwitz M; Field M; Friedlander M; Gattas M; Saleh M; Aghmesheh M; Hayward N; Pachter N; Cohen P; Duijf P; James P; Simpson P; Fong P; Butow P; Williams R; Kefford R; Simard J; Balleine R-M; Dawson S-J; Lok S; O'connell S; Greening S; Nightingale S; Edwards S; Fox S; McLachlan S-A; Lakhani S; Dudding T; Antill Y; Sahlberg KK; Ottestad L; Karesen R; Schlichting E; Holmen MM; Sauer T; Haakensen V; Engebraten O; Naume B; Fossa A; Kiserud CE; Reinertsen KV; Helland A; Riis M; Geisler J; Dunning AM; Thompson DJ; Chenevix-Trench G; Chang-Claude J; Schmidt MK; Hall P; Milne RL; Pharoah PDP; Antoniou AC; Chatterjee N; Kraft P; Garcia-Closas M; Easton DF
• Other: SURGICAL NEUROLOGY INTERNATIONAL. 2019;10:166

  A challenging case of concurrent multiple sclerosis and anaplastic astrocytoma.

  Sinclair G; Al-Saffar Y; Johnstone P; Hatiboglu MA; Shamikh A
• Other: SURGICAL NEUROLOGY INTERNATIONAL. 2019;10:161

  Pituitary carcinomas: Rare and challenging.

  Sinclair G; Olsson M; Benmakhlouf H; Al-Saffar Y; Johnstone P; Hatiboglu MA; Shamikh A
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27(1):167-168

  Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers (vol 25, pg 432, 2017)

  Walker LC; Marquart L; Pearson JF; Wiggins GAR; O'Mara TA; Parsons MT; Barrowdale D; McGuffog L; Dennis J; Benitez J; Slavin TP; Radice P; Frost D; Godwin AK; Meindl A; Schmutzler RK; Isaacs C; Peshkin BN; Caldes T; Hogervorst FBL; Lazaro C; Jakubowska A; Montagna M; Chen X; Offit K; Hulick PJ; Andrulis IL; Lindblom A; Nussbaum RL; Nathanson KL; Chenevix-Trench G; Antoniou AC; Couch FJ; Spurdle AB
• Article: METHODS IN MOLECULAR BIOLOGY. 2019;1881:355-363

  High-Throughput Sequencing of the T-Cell Receptor Beta Chain Gene Repertoire in Chronic Lymphocytic Leukemia.

  Vlachonikola E; Vardi A; Stamatopoulos K; Hadzidimitriou A
• Article: METHODS IN MOLECULAR BIOLOGY. 2019;1881:51-62

  Immunoglobulin Gene Analysis in Chronic Lymphocytic Leukemia.

  Agathangelidis A; Rosenquist R; Davi F; Ghia P; Belessi C; Hadzidimitriou A; Stamatopoulos K
• Review: METHODS IN MOLECULAR BIOLOGY. 2019;1956:139-155

  Stereotyped B Cell Receptor Immunoglobulins in B Cell Lymphomas.

  Agathangelidis A; Psomopoulos F; Stamatopoulos K
• Article: CANCER MEDICINE. 2019;8(1):311-324

  An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression

  Haider Z; Larsson P; Landfors M; Kohn L; Schmiegelow K; Flaegstad T; Kanerva J; Heyman M; Hultdin M; Degerman S
• Article: NATURE GENETICS. 2019;51(1):76-87

  Discovery of common and rare genetic risk variants for colorectal cancer

  Huyghe JR; Bien SA; Harrison TA; Kang HM; Chen S; Schmit SL; Conti DV; Qu C; Jeon J; Edlund CK; Greenside P; Wainberg M; Schumacher FR; Smith JD; Levine DM; Nelson SC; Sinnott-Armstrong NA; Albanes D; Alonso MH; Anderson K; Arnau-Collell C; Arndt V; Bamia C; Banbury BL; Baron JA; Berndt SI; Bezieau S; Bishop DT; Boehm J; Boeing H; Brenner H; Brezina S; Buch S; Buchanan DD; Burnett-Hartman A; Butterbach K; Caan BJ; Campbell PT; Carlson CS; Castellvi-Bel S; Chan AT; Chang-Claude J; Chanock SJ; Chirlaque M-D; Cho SH; Connolly CM; Cross AJ; Cuk K; Curtis KR; de la Chapelle A; Doheny KF; Duggan D; Easton DF; Elias SG; Elliott F; English DR; Feskens EJM; Figueiredo JC; Fischer R; FitzGerald LM; Forman D; Gala M; Gallinger S; Gauderman WJ; Giles GG; Gillanders E; Gong J; Goodman PJ; Grady WM; Grove JS; Gsur A; Gunter MJ; Haile RW; Hampe J; Hampel H; Harlid S; Hayes RB; Hofer P; Hoffmeister M; Hopper JL; Hsu W-L; Huang W-Y; Hudson TJ; Hunter DJ; Ibanez-Sanz G; Idos GE; Ingersoll R; Jackson RD; Jacobs EJ; Jenkins MA; Joshi AD; Joshu CE; Keku TO; Key TJ; Kim HR; Kobayashi E; Kolonel LN; Kooperberg C; Kuehn T; Kury S; Kweon S-S; Larsson SC; Laurie CA; Le Marchand L; Leal SM; Lee SC; Lejbkowicz F; Lemire M; Li CI; Li L; Lieb W; Lin Y; Lindblom A; Lindor NM; Ling H; Louie TL; Mannisto S; Markowitz SD; Martin V; Masala G; McNeil CE; Melas M; Milne RL; Moreno L; Murphy N; Myte R; Naccarati A; Newcomb PA; Offit K; Ogino S; Onland-Moret NC; Pardini B; Parfrey PS; Pearlman R; Perduca V; Pharoah PDP; Pinchev M; Platz EA; Prentice RL; Pugh E; Raskin L; Rennert G; Rennert HS; Riboli E; Rodriguez-Barranco M; Romm J; Sakoda LC; Schafmayer C; Schoen RE; Seminara D; Shah M; Shelford T; Shin M-H; Shulman K; Sieri S; Slattery ML; Southey MC; Stadler ZK; Stegmaier C; Su Y-R; Tangen CM; Thibodeau SN; Thomas DC; Thomas SS; Toland AE; Trichopoulou A; Ulrich CM; Van den Berg DJ; van Duijnhoven FJB; Van Guelpen B; van Kranen H; Vijai J; Visvanathan K; Vodicka P; Vodickova L; Vymetalkova V; Weigl K; Weinstein SJ; White E; Win AK; Wolf CR; Wolk A; Woods MO; Wu AH; Zaidi SH; Zanke BW; Zhang Q; Zheng W; Scacheri PC; Potter JD; Bassik MC; Kundaje A; Casey G; Moreno V; Abecasis GR; Nickerson DA; Gruber SB; Hsu L; Peters U
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2018;13(1):231

  Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study

  Arponen H; Bachour A; Back L; Valta H; Makitie A; Waltimo-Siren J; Makitie O
• Article: BLOOD CANCER JOURNAL. 2018;9(1):1

  Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology

  Went M; Sud A; Speedy H; Sunter NJ; Foersti A; Law PJ; Johnson DC; Mirabella F; Holroyd A; Li N; Orlando G; Weinhold N; van Duin M; Chen B; Mitchell JS; Mansouri L; Juliusson G; Smedby KE; Jayne S; Majid A; Dearden C; Allsup DJ; Bailey JR; Pratt G; Pepper C; Fegan C; Rosenquist R; Kuiper R; Stephens OW; Bertsch U; Broderick P; Einsele H; Gregory WM; Hillengass J; Hoffmann P; Jackson GH; Joeckel K-H; Nickel J; Noethen MM; da Silva Filho MI; Thomsen H; Walker BA; Broyl A; Davies FE; Hansson M; Goldschmidt H; Dyer MJS; Kaiser M; Sonneveld P; Morgan GJ; Hemminki K; Nilsson B; Catovsky D; Allan JM; Houlston RS
• Article: HUMAN MOLECULAR GENETICS. 2018;27(24):4218-4230

  Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

  De Castro SCP; Gustavsson P; Marshall AR; Gordon WM; Galea G; Nikolopoulou E; Savery D; Rolo A; Stanier P; Andersen B; Copp AJ; Greene NDE
• Article: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2018;53(12):1535-1540

  Testing strategies to reduce morbidity and mortality from Lynch syndrome

  Keranen A; Ghazi S; Carlson J; Papadogiannakis N; Lagerstedt-Robinson K; Lindblom A
• Review: HAEMATOLOGICA. 2018;103(12):1956-1968

  TP53 aberrations in chronic lymphocytic leukemia: an overview of the clinical implications of improved diagnostics

  Campo E; Cymbalista F; Ghia P; Jaeger U; Pospisilova S; Rosenquist R; Schuh A; Stilgenbauer S
• Editorial: BLOOD. 2018;132(22):2317-2319

  Not so lost in translation: RPS15 mutations in CLL

  Ljungstrom V; Rosenquist R
• Conference publication: BLOOD. 2018;132:3973

  Vitamin D Status in Children with Leukemia

  Jackmann N; Harila-Saari AH; Makitie O; Gustafsson J; Dernroth DN; Frisk P
• Article: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS. 2018;(141)

  Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

  Agathangelidis A; Sutton LA; Hadzidimitriou A; Tresoldi C; Langerak AW; Belessi C; Davi F; Rosenquist R; Stamatopoulos K; Ghia P
• Article: BMC BIOINFORMATICS. 2018;19(Suppl 14):414

  Automated shape-based clustering of 3D immunoglobulin protein structures in chronic lymphocytic leukemia

  Polychronidou E; Kalamaras I; Agathangelidis A; Sutton L-A; Yan X-J; Bikos V; Vardi A; Mochament K; Chiorazzi N; Belessi C; Rosenquist R; Ghia P; Stamatopoulos K; Vlamos P; Chailyan A; Overby N; Marcatili P; Hatzidimitriou A; Tzovaras D
• Article: JOURNAL OF BIOMEDICAL SCIENCE. 2018;25(1):82

  Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

  Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2018;13(1):207

  Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity

  Holopainen E; Vakkilainen S; Makitie O
• Journal article: NEURO-ONCOLOGY. 2018;20(suppl_6):vi263-vi264

  TMIC-35. ASTROCYTE-DEPENDENT ENHANCEMENT OF GLIOBLASTOMA GROWTH AS A CANDIDATE THERAPEUTIC TARGET

  Mega A; Leiss L; Nilsen MH; Tobin N; Sleire L; Strell C; Liu J; Nekhotiaeva N; Eriksson A; Nelander S; Uhrbom L; Krona C; Hägerstrand D; Enger PØ; Nistér M; Östman A
• Article: CLINICAL CASE REPORTS. 2018;6(11):2103-2110

  Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

  Frisk S; Grandpeix-Guyodo C; Silwerfeldt KP; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
• Article: PLOS GENETICS. 2018;14(11):e1007780

  Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

  Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
• Conference publication: NEURO-ONCOLOGY. 2018;20:263-264

  ASTROCYTE-DEPENDENT ENHANCEMENT OF GLIOBLASTOMA GROWTH AS A CANDIDATE THERAPEUTIC TARGET

  Mega A; Leiss L; Nilsen MH; Tobin N; Sleire L; Strell C; Liu J; Nekhotiaeva N; Eriksson A; Nelander S; Uhrbom L; Krona C; Hagerstrand D; Enger PO; Nister M; Ostman A
• Article: FRONTIERS IN IMMUNOLOGY. 2018;9:2468

  A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

  Vakkilainen S; Makitie R; Klemetti P; Valta H; Taskinen M; Husebye ES; Makitie O
• Preprint: BIORXIV. 2018

  Shared heritability and functional enrichment across six solid cancers

  Jiang X; Finucane H; Schumacher F; Schmit S; Tyrer J; Han Y; Michailidou K; Lesseur C; Kuchenbaecker K; Dennis J; Conti D; Casey G; Gaudet M; Huyghe J; Albanes D; Aldrich M; Andrew A; Andrulis I; Anton-Culver H; Antoniou A; Antonenkova N; Arnold S; Aronson K; Arun B; Bandera E; Barkardottir R; Barnes D; Batra J; Beckmann M; Benitez J; Benlloch S; Berchuck A; Berndt S; Bickeböller H; Bien S; Blomqvist C; Boccia S; Bogdanova N; Bojesen S; Bolla M; Brauch H; Brenner H; Brenton J; Brook M; Brunet J; Brunnström H; Buchanan D; Burwinkel B; Butzow R; Cadoni G; Caldés T; Caligo M; Campbell I; Campbell P; Cancel-Tassin G; Cannon-Albright L; Campa D; Caporaso N; Carvalho A; Chan A; Chang-Claude J; Chanock S; Chen C; Christiani D; B.M. Claes K; Claessens F; Clements J; Collée M; Correa MC; Couch F; Cox A; Cunningham J; Cybulski C; Czene K; Daly M; deFazio A; Devilee P; Diez O; Gago-Dominguez M; Donovan J; Dörk T; Duell E; Dunning A; Dwek M; Eccles D; Edlund C; Velez Edwards D; Ellberg C; Evans G; Fasching P; Ferris R; Liloglou T; Figueiredo J; Fletcher O; Fortner R; Fostira F; Franceschi S; Friedman E; Gallinger S; Ganz P; Garber J; García-Sáenz J; Gayther S; Giles G; Godwin A; Goldberg M; Goldgar D; Goode E; Goodman M; Goodman G; Grankvist K; Greene M; Gronberg H; Gronwald J; Guénel P; Håkansson N; Hall P; Hamann U; Hamdy F; Hamilton R; Hampe J; Haugen A; Heitz F; Herrero R; Hillemanns P; Hoffmeister M; Høgdall E; Yun-Hong C; Hopper J; Houlston R; Hulick P; Hunter D; Huntsman D; Idos G; Imyanitov E; Ingles SA; Isaacs C; Jakubowska A; James P; Jenkins M; Johansson M; Johansson M; John E; Joshi A; Kaneva R; Karlan B; Kelemen L; Kühl T; Kay-Khaw T; Khusnutdinova E; Kibel A; Kiemeney L; Kim J; Kjaer S; Knight J; Kogevinas M; Kote-Jarai Z; Koutros S; Kristensen V; Kupryjanczyk J; Lacko M; Lam S; Lambrechts D; Landi MT; Lazarus P; Le N; Lee E; Lejbkowicz F; Heinz-Lenz J; Leslie G; Lessel D; Lester J; Levine D; Li L; Li C; Lindblom A; Lindor N; Liu G; Loupakis F; Lubinński J; Maehle L; Maier C; Mannermaa A; Marchand LL; Margolin S; May T; McGuffog L; Meindl A; Middha P; Miller A; Milne R; MacInnis R; Modugno F; Montagna M; Moreno V; Moysich K; Mucci L; Muir K; Mulligan AM; Nathanson K; Neal D; Ness A; Neuhausen S; Nevanlinna H; Newcomb P; Newcomb L; Nielsen FC; Nikitina-Zake L; Nordestgaard B; Nussbaum R; Offit K; Olah E; Al Olama AA; Olopade O; Olshan A; Olsson H; Osorio A; Pandha H; Park J; Pashayan N; Parsons M; Pejovic T; Penney K; Peters WHM; Phelan C; Phipps A; Plaseska-Karanfilska D; Pring M; Prokofyeva D; Radice P; Stefansson K; Susan
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2018;16:16

  A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

  Karimi M; von Salome J; Aravidis C; Silander G; Askmalm MS; Henriksson I; Gebre-Medhin S; Frodin J-E; Bjorck E; Lagerstedt-Robinson K; Lindblom A; Tham E
• Article: BRITISH JOURNAL OF CANCER. 2018;119(8):988-993

  Genome-wide scan of the effect of common nsSNPs on colorectal cancer survival outcome

  Theodoratou E; Farrington SM; Timofeeva M; Din FVN; Svinti V; Tenesa A; Liu T; Lindblom A; Gallinger S; Campbell H; Dunlop MG
• Article: CANCER RESEARCH. 2018;78(20):5901-5916

  Reduced Expression of PROX1 Transitions Glioblastoma Cells into a Mesenchymal Gene Expression Subtype

  Goudarzi KM; Espinoza JA; Guo M; Bartek J; Nister M; Lindstrom MS; Hagerstrand D
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2018;36(29):2961-2968

  Cancer Risks for PMS2-Associated Lynch Syndrome

  ten Broeke SW; van der Klift HM; Tops CMJ; Aretz S; Bernstein I; Buchanan DD; de la Chapelle A; Capella G; Clendenning M; Engel C; Gallinger S; Gomez Garcia E; Figueiredo JC; Haile R; Hampel HL; Hopper JL; Hoogerbrugge N; Doeberitz MVK; Le Marchand L; Letteboer TGW; Jenkins MA; Lindblom A; Lindor NM; Mensenkamp AR; Moller P; Newcomb PA; van Os TAM; Pearlman R; Pineda M; Rahner N; Redeker EJW; Olderode-Berends MJW; Rosty C; Schackert HK; Scott R; Senter L; Spruijt L; Steinke-Lange V; Suerink M; Thibodeau S; Vos YJ; Wagner A; Winship I; Hes FJ; Vasen HFA; Wijnen JT; Nielsen M; Win AK
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567

  A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

  Ferreira CR; Xia Z-J; Clement A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sanchez B; Ng BG; Logan CV; Wolfe LA; Solomon BD; Cho MT; Douglas G; Carvalho DR; Bratke H; Haug MG; Phillips JB; Wegner J; Tiemeyer M; Aoki K; Nordgren A; Hammarsjo A; Duker AL; Rohena L; Hove HB; Ek J; Adams D; Tifft CJ; Onyekweli T; Weixel T; Macnamara E; Radtke K; Powis Z; Earl D; Gabriel M; Russi AHS; Brick L; Kozenko M; Tham E; Raymond KM; Phillips JAIII; Tiller GE; Wilson WG; Hamid R; Malicdan MCV; Nishimura G; Grigelioniene G; Jackson A; Westerfield M; Bober MB; Gahl WA; Freeze HH
• Article: PEDIATRIC BLOOD & CANCER. 2018;65(10):e27300

  Comparing osteonecrosis clinical phenotype, timing, and risk factors in children and young adults treated for acute lymphoblastic leukemia

  Mogensen SS; Harila-Saari A; Makitie O; Myrberg IH; Niinimaki R; Vestli A; Hafsteinsdottir S; Griskevicius L; Saks K; Hallbook H; Retpen J; Helt LR; Toft N; Schmiegelow K; Frandsen TL
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2018;183(2):212-224

  Ibrutinib induces rapid down-regulation of inflammatory markers and altered transcription of chronic lymphocytic leukaemia-related genes in blood and lymph nodes

  Palma M; Krstic A; Perez LP; Bergloef A; Meinke S; Wang Q; Blomberg KEM; Kamali-Moghaddam M; Shen Q; Jaremko G; Lundin J; De Paepe A; Hoeglund P; Kimby E; OEsterborg A; Mansson R; Smith CIE
• Article: HUMAN MUTATION. 2018;39(10):1456-1467

  Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

  Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2018;61(10):612-615

  Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7

  Costantini A; Wallgren-Pettersson C; Makitie O
• Article: FAMILIAL CANCER. 2018;17(4):531-537

  Haplotype analysis suggest that the MLH1 c.2059C>T mutation is a Swedish founder mutation

  von Salome J; Liu T; Keihas M; Morak M; Holinski-Feder E; Berry IR; Moilanen JS; Baert-Desurmont S; Lindblom A; Lagerstedt-Robinson K
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:589-590

  a novel risk SNP in the colorectal-cancer risk locus on chromosome 9q22

  Thutkawkorapin J; Mahdessian H; Picelli S; Von Holst S; Lundin J; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677

  Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection

  Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675

  Whole exome sequencing in rare syndromes using family trios - Clinical experience and outcome

  Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:644-645

  Back-tracing of leukemia clones in childhood B-cell progenitor acute lymphocytic leukemia using digital PCR

  Taylan F; Zachariadis V; Bang B; Ofverholm I; Harila-Saari A; Heyman M; Tran A; Barbany G; Nordgren A
• Article: ACTA OTO-LARYNGOLOGICA. 2018;138(9):855-858

  Human papillomavirus (HPV) is absent in branchial cleft cysts of the neck distinguishing them from HPV positive cystic metastasis

  Sivars L; Landin D; Rizzo M; Haeggblom L; Bersani C; Munck-Wikland E; Nasman A; Dalianis T; Marklund L
• Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2018;42(3):1675-1683

  TERT promoter hypermethylation is associated with poor prognosis in adrenocortical carcinoma

  Svahn F; Paulsson JO; Stenman A; Fotouhi O; Mu N; Murtha TD; Korah R; Carling T; Baeckdahl M; Wang N; Juhlin CC; Larsson C
• Article: CIRCULATION-GENOMIC AND PRECISION MEDICINE. 2018;11(9):e002115

  Genetic Susceptibility Loci for Cardiovascular Disease and Their Impact on Atherosclerotic Plaques

  van der Laan SW; Siemelink MA; Haitjema S; Asl HF; Perisic L; Mokry M; van Setten J; Malik R; Dichgans M; Worrall BB; Samani NJ; Schunkert H; Erdmann J; Hedin U; Paulsson-Berne G; Bjorkegrenn JLM; de Borst GJ; Asselbergs FW; den Ruijter HM; de Bakker PIW; Pasterkamp G
• Article: CIRCULATION-GENOMIC AND PRECISION MEDICINE. 2018;11(9):e002030

  Smoking is Associated to DNA Methylation in Atherosclerotic Carotid Lesions

  Siemelink MA; van der Laan SW; Haitjema S; van Koeverden ID; Schaap J; Wesseling M; de Jager SCA; Mokry M; van Iterson M; Dekkers KF; Luijk R; Asl HF; Michoel T; Bjorkegren JLM; Aavik E; Yla-Herttuala S; de Borst GJ; Asselbergs FW; el Azzouzi H; den Ruijter HM; Heijmans BT; Pasterkamp G
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(9):1819-1829

  Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length

  Merker A; Neumeyer L; Hertel NT; Grigelioniene G; Mohnike K; Hagenas L
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(9):1972-1975

  A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

  Loid P; Makitie R; Costantini A; Viljakainen H; Pekkinen M; Makitie O
• Article: CALCIFIED TISSUE INTERNATIONAL. 2018;103(3):353-358

  Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation

  Costantini A; Tournis S; Kampe A; Ul Ain N; Taylan F; Doulgeraki A; Makitie O
• Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:463

  Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

  Bruserud O; Costea D-E; Laakso S; Garty B-Z; Mathisen E; Makitie A; Makitie O; Husebye ES
• Article: NATURE COMMUNICATIONS. 2018;9(1):3166

  Identification of nine new susceptibility loci for endometrial cancer

  O'Mara TA; Glubb DM; Amant F; Annibali D; Ashton K; Attia J; Auer PL; Beckmann MW; Black A; Bolla MK; Brauch H; Brenner H; Brinton L; Buchanan DD; Burwinkel B; Chang-Claude J; Chanock SJ; Chen C; Chen MM; Cheng THT; Clarke CL; Clendenning M; Cook LS; Couch FJ; Cox A; Crous-Bous M; Czene K; Day F; Dennis J; Depreeuw J; Doherty JA; Dork T; Dowdy SC; Duerst M; Ekici AB; Fasching PA; Fridley BL; Friedenreich CM; Fritschi L; Fung J; Garcia-Closas M; Gaudet MM; Giles GG; Goode EL; Gorman M; Haiman CA; Hall P; Hankison SE; Healey CS; Hein A; Hillemanns P; Hodgson S; Hoivik EA; Holliday EG; Hopper JL; Hunter DJ; Jones A; Krakstad C; Kristensen VN; Lambrechts D; Le Marchand L; Liang X; Lindblom A; Lissowska J; Long J; Lu L; Magliocco AM; Martin L; McEvoy M; Meindl A; Michailidou K; Milne RL; Mints M; Montgomery GW; Nassir R; Olsson H; Orlow I; Otton G; Palles C; Perry JRB; Peto J; Pooler L; Prescott J; Proietto T; Rebbeck TR; Risch HA; Rogers PAW; Ruebner M; Runnebaum I; Sacerdote C; Sarto GE; Schumacher F; Scott RJ; Setiawan VW; Shah M; Sheng X; Shu X-O; Southey MC; Swerdlow AJ; Tham E; Trovik J; Turman C; Tyrer JP; Vachon C; Vanden Berg D; Vanderstichele A; Wang Z; Webb PM; Wentzensen N; Werner HMJ; Winham SJ; Wolk A; Xia L; Xiang Y-B; Yang HP; Yu H; Zheng W; Pharoah PDP; Dunning AM; Kraft P; De Vivo I; Tomlinson I; Easton DF; Spurdle AB; Thompson DJ
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(8):1723-1734

  Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

  Merker A; Neumeyer L; Hertel NT; Grigelioniene G; Makitie O; Mohnike K; Hagenas L
• Editorial: SEMINARS IN CANCER BIOLOGY. 2018;51:iv-v

  Introduction: Epigenetics in cancer

  Rosenquist R; Esteller M; Plass C
• Article: NATURE REVIEWS ENDOCRINOLOGY. 2018;14(8):476-500

  Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

  Mantovani G; Bastepe M; Monk D; de Sanctis L; Thiele S; Usardi A; Ahmed SF; Bufo R; Choplin T; De Filippo G; Devernois G; Eggermann T; Elli FM; Freson K; Garcia Ramirez A; Germain-Lee EL; Groussin L; Hamdy N; Hanna P; Hiort O; Juppner H; Kamenicky P; Knight N; Kottler M-L; Le Norcy E; Lecumberri B; Levine MA; Makitie O; Martin R; Angel Martos-Moreno G; Minagawa M; Murray P; Pereda A; Pignolo R; Rejnmark L; Rodado R; Rothenbuhler A; Saraff V; Shoemaker AH; Shore EM; Silve C; Turan S; Woods P; Zillikens MC; Perez de Nanclares G; Linglart A
• Article: COLD SPRING HARBOR MOLECULAR CASE STUDIES. 2018;4(4):a002550

  Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma o the ALK inhibitor ceritinib

  Guan J; Fransson S; Siaw JT; Treis D; Van den Eynden J; Chand D; Umapathy G; Ruuth K; Svenberg P; Wessman S; Shamikh A; Jacobsson H; Gordon L; Stenman J; Svensson P-J; Hansson M; Larsson E; Martinsson T; Palmer RH; Kogner P; Hallberg B
• Article: JOURNAL OF HUMAN GENETICS. 2018;63(8):923-926

  A novel frameshift deletion in PLS3 causing severe primary osteoporosis

  Costantini A; Krallis PN; Kampe A; Karavitakis EM; Taylan F; Makitie O; Doulgeraki A
• Article: ENDOCRINE. 2018;61(2):293-302

  High Ki-67 index in fine needle aspiration cytology of follicular thyroid tumors is associated with increased risk of carcinoma

  Mu N; Juhlin CC; Tani E; Sofiadis A; Reihner E; Zedenius J; Larsson C; Nilsson I-L
• Article: CEREBELLUM. 2018;17(4):465-476

  Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

  Paucar M; Bergendal A; Gustavsson P; Nordenskjold M; Laffita-Mesa J; Savitcheva I; Svenningsson P
• Article: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY. 2018;31(4):422-425

  Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases

  Holopainen E; Vakkilainen S; Makitie O
• Article: SEMINARS IN CANCER BIOLOGY. 2018;51:1-11

  Epigenetic deregulation in chronic lymphocytic leukemia: Clinical and biological impact

  Mansouri L; Wierzbinska JA; Plass C; Rosenquist R
• Article: SCIENTIFIC REPORTS. 2018;8(1):11202

  The histone chaperone NAP1L3 is required for haematopoietic stem cell maintenance and differentiation

  Heshmati Y; Kharazi S; Turkoz G; Chang D; Dolatabadi EK; Bostrom J; Krstic A; Boukoura T; Wagner E; Kadri N; Mansson R; Altun M; Qian H; Walfridsson J
• Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380

  Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

  Costantini A; Skarp S; Kampe A; Makitie RE; Pettersson M; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
• Article: NEURO-ONCOLOGY. 2018;20(8):1080-1091

  Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.

  Baskaran S; Mayrhofer M; Kultima HG; Bergström T; Elfineh L; Cavelier L; Isaksson A; Nelander S
• Article: HAEMATOLOGICA. 2018;103(7):1169-1181

  The chromatin-remodeling factor CHD4 is required for maintenance of childhood acute myeloid leukemia

  Heshmati Y; Turkoz G; Harisankar A; Kharazi S; Bostrom J; Dolatabadi EK; Krstic A; Chang D; Mansson R; Altun M; Qian H; Walfridsson J
• Letter: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(7):1377-1378

  Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

  Tham E; Grigelionis G; Hammarsjo A; Grigelioniene G
• Article: JAMA PEDIATRICS. 2018;172(7):646-654

  Effect of Higher vs Standard Dosage of Vitamin D₃ Supplementation on Bone Strength and Infection in Healthy Infants A Randomized Clinical Trial

  Rosendahl J; Valkama S; Holmlund-Suila E; Enlund-Cerullo M; Hauta-alus H; Helve O; Hytinantti T; Levalahti E; Kajantie E; Viljakainen H; Makitie O; Andersson S
• Article: AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY. 2018;80(1):e12863

  The vaginal microbiome amplifies sex hormone-associated cyclic changes in cervicovaginal inflammation and epithelial barrier disruption

  Bradley F; Birse K; Hasselrot K; Noel-Romas L; Introini A; Wefer H; Seifert M; Engstrand L; Tjernlund A; Broliden K; Burgener AD
• Article: ENDOCRINE-RELATED CANCER. 2018;25(7):723-733

  TERT aberrancies: a screening tool for malignancy in follicular thyroid tumours

  Paulsson JO; Mu N; Shabo I; Wang N; Zedenius J; Larsson C; Juhlin CC
• Article: GUT. 2018;67(7):1306-1316

  Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

  Moller P; Seppala TT; Bernstein I; Holinski-Feder E; Sala P; Evans DG; Lindblom A; Macrae F; Blanco I; Sijmons RH; Jeffries J; Vasen HFA; Burn J; Nakken S; Hovig E; Rodland EA; Tharmaratnam K; Cappel WHDVTN; Hill J; Wijnen JT; Jenkins MA; Green K; Lalloo F; Sunde L; Mints M; Bertario L; Pineda M; Navarro M; Morak M; Renkonen-Sinisalo L; Valentin MD; Frayling IM; Plazzer J-P; Pylvanainen K; Genuardi M; Mecklin J-P; Moeslein G; Sampson JR; Capella G
• Article: BRITISH JOURNAL OF CANCER. 2018;118(12):1639-1647

  Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

  Neumeyer S; Banbury BL; Arndt V; Berndt SI; Bezieau S; Bien SA; Buchanan DD; Butterbach K; Caan BJ; Campbell PT; Casey G; Chan AT; Chanock SJ; Dai JY; Gallinger S; Giovannucci EL; Giles GG; Grady WM; Hampe J; Hoffmeister M; Hopper JL; Hsu L; Jenkins MA; Joshi A; Larsson SC; Le Marchand L; Lindblom A; Moreno V; Lemire M; Li L; Lin Y; Offit K; Newcomb PA; Pharaoh PD; Potter JD; Qi L; Rennert G; Schafmayer C; Schoen RE; Slattery ML; Song M; Ulrich CM; Win AK; White E; Wolk A; Woods MO; Wu AH; Gruber SB; Brenner H; Peters U; Chang-Claude J
• Article: JOURNAL OF MEDICAL GENETICS. 2018;55(6):403-407

  Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant

  ul Ain N; Makitie O; Naz S
• Article: EUROPEAN JOURNAL OF NUTRITION. 2018;57(4):1369-1379

  Season, dietary factors, and physical activity modify 25-hydroxyvitamin D concentration during pregnancy

  Hauta-alus HH; Holmlund-Suila EM; Rita HJ; Enlund-Cerullo M; Rosendahl J; Valkama SM; Helve OM; Hytinantti TK; Surcel H-M; Makitie OM; Andersson S; Viljakainen HT
• Journal article: ESMO OPEN. 2018;3:a359-a360

  PO-336 Identification of SOX2 and SFRP2 as opposing regulators of glioblastoma heterogeneous subtypes

  Guo M; Nister M; Hagerstrand D
• Article: ONCOTARGET. 2018;9(40):26019-26031

  A novel ex vivo high-throughput assay reveals antiproliferative effects of idelalisib and ibrutinib in chronic lymphocytic leukemia.

  Primo D; Scarfò L; Xochelli A; Mattsson M; Ranghetti P; Espinosa AB; Robles A; Gorrochategui J; Martínez-López J; de la Serna J; González M; Gil AC; Anguita E; Iraheta S; Munugalavadla V; Quéva C; Tannheimer S; Rosenquist R; Stamatopoulos K; Ballesteros J; Ghia P
• Article: BLOOD. 2018;131(19):2138-2150

  Active enhancer and chromatin accessibility landscapes chart the regulatory network of primary multiple myeloma

  Jin Y; Chen K; De Paepe A; Hellqvist E; Krstic AD; Metang L; Gustafsson C; Davis RE; Levy YM; Surapaneni R; Wallblom A; Nahi H; Mansson R; Lin YC
• Review: LEUKEMIA. 2018;32(5):1070-1080

  ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation

  Malcikova J; Tausch E; Rossi D; Sutton LA; Soussi T; Zenz T; Kater AP; Niemann CU; Gonzalez D; Davi F; Gonzalez Diaz M; Moreno C; Gaidano G; Stamatopoulos K; Rosenquist R; Stilgenbauer S; Ghia P; Pospisilova S
• Article: NATURE GENETICS. 2018;50(5):657-661

  Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics

  Suzuki HI; Spengler RM; Grigelioniene G; Kobayashi T; Sharp PA
• Article: CANCER MEDICINE. 2018;7(5):1978-1987

  Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

  Painter JN; O'Mara TA; Morris AP; Cheng THT; Gorman M; Martin L; Hodson S; Jones A; Martin NG; Gordon S; Henders AK; Attia J; McEvoy M; Holliday EG; Scott RJ; Webb PM; Fasching PA; Beckmann MW; Ekici AB; Hein A; Ruebner M; Hall P; Czene K; Doerk T; Duerst M; Hillemanns P; Runnebaum I; Lambrechts D; Amant F; Annibali D; Depreeuw J; Vanderstichele A; Goode EL; Cunningham JM; Dowdy SC; Winham SJ; Trovik J; Hoivik E; Werner HMJ; Krakstad C; Ashton K; Otton G; Proietto T; Tham E; Mints M; Ahmed S; Healey CS; Shah M; Pharoah PDP; Dunning AM; Dennis J; Bolla MK; Michailidou K; Wang Q; Tyrer JP; Hopper JL; Peto J; Swerdlow AJ; Burwinkel B; Brenner H; Meindl A; Brauch H; Lindblom A; Chang-Claude J; Couch FJ; Giles GG; Kristensen VN; Cox A; Zondervan KT; Nyholt DR; MacGregor S; Montgomery GW; Tomlinson I; Easton DF; Thompson DJ; Spurdle AB
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2018;103(5):1985-1996

  Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

  Makitie RE; Hackl M; Niinimaki R; Kakko S; Grillari J; Makitie O
• Article: HUMAN MUTATION. 2018;39(5):729-741

  The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

  Colombo M; Lopez-Perolio I; Meeks HD; Caleca L; Parsons MT; Li H; De Vecchi G; Tudini E; Foglia C; Mondini P; Manoukian S; Behar R; Garcia EBG; Meindl A; Montagna M; Niederacher D; Schmidt AY; Varesco L; Wappenschmidt B; Bolla MK; Dennis J; Michailidou K; Wang Q; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Beeghly-Fadel A; Benitez J; Boeckx B; Bogdanova NV; Bojesen SE; Bonanni B; Brauch H; Brenner H; Burwinkel B; Chang-Claude J; Conroy DM; Couch FJ; Cox A; Cross SS; Czene K; Devilee P; Dork T; Eriksson M; Fasching PA; Figueroa J; Fletcher O; Flyger H; Gabrielson M; Garcia-Closas M; Giles GG; Gonzalez-Neira A; Guenel P; Haiman CA; Hall P; Hamann U; Hartman M; Hauke J; Hollestelle A; Hopper JL; Jakubowska A; Jung A; Kosma V-M; Lambrechts D; Le Marchand L; Lindblom A; Lubinski J; Mannermaa A; Margolin S; Miao H; Milne RL; Neuhausen SL; Nevanlinna H; Olson JE; Peterlongo P; Peto J; Pylkas K; Sawyer EJ; Schmidt MK; Schmutzler RK; Schneeweiss A; Schoemaker MJ; See MH; Southey MC; Swerdlow A; Teo SH; Toland AE; Tomlinson I; Truong T; van Asperen CJ; van den Ouweland AMW; van der Kolk LE; Winqvist R; Yannoukakos D; Zheng W; Dunning AM; Easton DF; Henderson A; Hogervorst FBL; Izatt L; Offitt K; Side LE; van Rensburg EJ; McGuffog L; Antoniou AC; Chenevix-Trench G; Spurdle AB; Goldgar DE; de la Hoya M; Radice P
• Article: HUMAN MUTATION. 2018;39(5):593-620

  Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

  Rebbeck TR; Friebel TM; Friedman E; Hamann U; Huo D; Kwong A; Olah E; Olopade OI; Solano AR; Teo S-H; Thomassen M; Weitzel JN; Chan TL; Couch FJ; Goldgar DE; Kruse TA; Palmero EI; Park SK; Torres D; van Rensburg EJ; McGuffog L; Parsons MT; Leslie G; Aalfs CM; Abugattas J; Adlard J; Agata S; Aittomaki K; Andrews L; Andrulis IL; Arason A; Arnold N; Arun BK; Asseryanis E; Auerbach L; Azzollini J; Balmana J; Barile M; Barkardottir RB; Barrowdale D; Benitez J; Berger A; Berger R; Blanco AM; Blazer KR; Blok MJ; Bonadona V; Bonanni B; Bradbury AR; Brewer C; Buecher B; Buys SS; Caldes T; Caliebe A; Caligo MA; Campbell I; Caputo SM; Chiquette J; Chung WK; Claes KBM; Collee JM; Cook J; Davidson R; de la Hoya M; De Leeneer K; de Pauw A; Delnatte C; Diez O; Ding YC; Ditsch N; Domchek S; Dorfling CM; Velazquez C; Dworniczak B; Eason J; Easton DF; Eeles R; Ehrencrona H; Ejlertsen B; Engel C; Engert S; Evans DG; Faivre L; Feliubadalo L; Ferrer SF; Foretova L; Fowler J; Frost D; Galvao HCR; Ganz PA; Garber J; Gauthier-Villars M; Gehrig A; Gerdes A-M; Gesta P; Giannini G; Giraud S; Glendon G; Godwin AK; Greene MH; Gronwald J; Gutierrez-Barrera A; Hahnen E; Hauke J; Henderson A; Hentschel J; Hogervorst FBL; Honisch E; Imyanitov EN; Isaacs C; Izatt L; Izquierdo A; Jakubowska A; James P; Janavicius R; Jensen UB; John EM; Vijai J; Kaczmarek K; Karlan BY; Kast K; Kim S-W; Konstantopoulou I; Korach J; Laitman Y; Lasa A; Lasset C; Lazaro C; Lee A; Lee MH; Lester J; Lesueur F; Liljegren A; Lindor NM; Longy M; Loud JT; Lu KH; Lubinski J; Machackova E; Manoukian S; Mari V; Martinez-Bouzas C; Matrai Z; Mebirouk N; Meijers-Heijboer HEJ; Meindl A; Mensenkamp AR; Mickys U; Miller A; Montagna M; Moysich KB; Mulligan AM; Musinsky J; Neuhausen SL; Nevanlinna H; Ngeow J; Nguyen HP; Niederacher D; Nielsen HR; Nielsen FC; Nussbaum RL; Offit K; Ofverholm A; Ong K-R; Osorio A; Papi L; Papp J; Pasini B; Pedersen IS; Peixoto A; Peruga N; Peterlongo P; Pohl E; Pradhan N; Prajzendanc K; Prieur F; Pujol P; Radice P; Ramus SJ; Rantala J; Rashid MU; Rhiem K; Robson M; Rodriguez GC; Rogers MT; Rudaitis V; Schmidt AY; Schmutzler RK; Senter L; Shah PD; Sharma P; Side LE; Simard J; Singer CF; Skytte A-B; Slavin TP; Snape K; Sobol H; Southey M; Steele L; Steinemann D; Sukiennicki G; Sutter C; Szabo CI; Tan YY; Teixeira MR; Terry MB; Teule A; Thomas A; Thull DL; Tischkowitz M; Tognazzo S; Toland AE; Topka S; Trainer AH; Tung N; van Asperen CJ; van der Hout AH; van der Kolk LE; van der Luijt RB; Van Heetvelde M; Varesco L; Varon-Mateeva R; Vega A; Villarreal-Garza C; von Wachenfeldt A; Walker L; Wang-Gohrke S; Wappenschmidt B; Weber BHF; Yannoukakos D; Yoon S-Y; Zanzottera C; Zidan J; Zorn KK; Selkirk CGH; Hulick PJ; Chenevix-Trench G; Spurdle AB; Antoniou AC; Nathanson KL
• Article: HAEMATOLOGICA. 2018;103(5):865-873

  Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations

  Agathangelidis A; Ljungstrom V; Scarfo L; Fazi C; Gounari M; Pandzic T; Sutton L-A; Stamatopoulos K; Tonon G; Rosenquist R; Ghia P
• Doctoral thesis: 2018

  Human papillomavirus and other biomarkers in neck masses of unknown origin and in head and neck cancer

  Sivars L
• Article: HUMAN MUTATION. 2018;39(4):495-505

  Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

  Hofmeister W; Pettersson M; Kurtoglu D; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(4):753-760

  Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

  Leal GF; Nishimura G; Voss U; Bertola DR; Astrom E; Svensson J; Yamamoto GL; Hammarsjo A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
• Meeting abstract: RADIOTHERAPY AND ONCOLOGY. 2018;127:S194

  Cell cycle checkpoint modulates radiotherapy fraction size sensitivity in normal and malignant cells

  Somaiah N; Anbalagan S; Strom C; Downs J; Jeggo P; Wilkins A; Boyle S; Rothkamm K; Yarnold J
• Article: BLOOD ADVANCES. 2018;2(6):621-625

  Clinical and functional impact of recurrent S1PR1 mutations in mantle cell lymphoma

  Wasik AM; Wu C; Mansouri L; Rosenquist R; Pan-Hammarstrom Q; Sander B
• Letter: HAEMATOLOGICA. 2018;103(4):e158-e161

  No improvement in long-term survival over time for chronic lymphocytic leukemia patients in stereotyped subsets #1 and #2 treated with chemo(immuno)therapy

  Baliakas P; Mattsson M; Hadzidimitriou A; Minga E; Agathangelidis A; Sutton L-A; Scarfo L; Davis Z; Yan X-J; Plevova K; Sandberg Y; Vojdeman FJ; Tzenou T; Chu CC; Veronese S; Mansouri L; Smedby KE; Giudicelli V; Nguyen-Khac F; Panagiotidis P; Juliusson G; Anagnostopoulos A; Lefranc M-P; Trentin L; Catherwood M; Montillo M; Niemann CU; Langerak AW; Pospisilova S; Stavroyianni N; Chiorazzi N; Oscier D; Jelinek DF; Shanafelt T; Darzentas N; Belessi C; Davi F; Ghia P; Rosenquist R; Stamatopoulos K
• Article: PLOS ONE. 2018;13(3):e0193547

  Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population

  Jiao X; Liu W; Mahdessian H; Bryant P; Ringdahl J; Timofeeva M; Farrington SM; Dunlop M; Lindblom A
• Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:96

  Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort

  Utriainen P; Valta H; Bjornsdottir S; Makitie O; Horemuzova E
• Article: PLOS ONE. 2018;13(3):e0193928

  High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

  Anh NT; Taylan F; Zachariadis V; Ofverholm II; Lindstrand A; Vezzi F; Lotstedt B; Nordenskjold M; Nordgren A; Nilsson D; Barbany G
• Article: CLINICAL EPIGENETICS. 2018;10:31

  DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia

  Borssen M; Nordlund J; Haider Z; Landfors M; Larsson P; Kanerva J; Schmiegelow K; Flaegstad T; Jonsson OG; Frost B-M; Palle J; Forestier E; Heyman M; Hultdin M; Lonnerholm G; Degerman S
• Article: PLOS ONE. 2018;13(2):e0192596

  Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone?

  Saarnio E; Pekkinen M; Itkonen ST; Kemi V; Karp H; Ivaska KK; Risteli J; Koivula M-K; Karkkainen M; Makitie O; Sievanen H; Lamberg-Allardt C
• Article: NATURE COMMUNICATIONS. 2018;9(1):800

  Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

  Franco I; Johansson A; Olsson K; Vrtacnik P; Lundin P; Helgadottir HT; Larsson M; Revechon G; Bosia C; Pagnani A; Provero P; Gustafsson T; Fischer H; Eriksson M
• Article: SCIENTIFIC REPORTS. 2018;8(1):3434

  Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets

  Lempiainen H; Braenne I; Michoel T; Tragante V; Vilne B; Webb TR; Kyriakou T; Eichner J; Zeng L; Willenborg C; Franzen O; Ruusalepp A; Goel A; van der Laan SW; Biegert C; Hamby S; Talukdar HA; Asl HF; Pasterkamp G; Watkins H; Samani NJ; Wittenberger T; Erdmann J; Schunkert H; Asselbergs FW; Bjorkegren JLM
• Article: ONCOTARGET. 2018;9(13):11170-11179

  Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

  Thutkawkorapin J; Mahdessian H; Barber T; Picelli S; von Holst S; Lundin J; Valle L; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
• Article: SCIENTIFIC REPORTS. 2018;8(1):2777

  Altered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve

  Bjorck HM; Du L; Pulignani S; Paloschi V; Lundstromer K; Kostina AS; Osterholm C; Malashicheva A; Kostareva A; Evangelista A; Teixido-Tura G; Maleki S; Franco-Cereceda A; Eriksson P
• Article: ACTA ONCOLOGICA. 2018;57(2):187-194

  U-CAN: a prospective longitudinal collection of biomaterials and clinical information from adult cancer patients in Sweden

  Glimelius B; Melin B; Enblad G; Alafuzoff I; Beskow A; Ahlstrom H; Bill-Axelson A; Birgisson H; Bjor O; Edqvist P-H; Hansson T; Helleday T; Hellman P; Henriksson K; Hesselager G; Hultdin M; Haggman M; Hoglund M; Jonsson H; Larsson C; Lindman H; Ljuslinder I; Mindus S; Nygren P; Ponten F; Riklund K; Rosenquist R; Sandin F; Schwenk JM; Stenling R; Stalberg K; Stalberg P; Sundstrom C; Karlsson CT; Westermark B; Bergh A; Claesson-Welsh L; Palmqvist R; Sjoblom T
• Article: OSTEOPOROSIS INTERNATIONAL. 2018;29(2):479-487

  Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis

  Makitie RE; Niinimaki R; Kakko S; Honkanen T; Kovanen PE; Makitie O
• Article: BMC MUSCULOSKELETAL DISORDERS. 2018;19(1):3

  Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study

  Arponen H; Waltimo-Siren J; Valta H; Makitie O
• Article: JOURNAL OF CLINICAL INVESTIGATION. 2018;128(1):427-445

  Drug-perturbation-based stratification of blood cancer

  Dietrich S; Oles M; Lu J; Sellner L; Anders S; Velten B; Wu B; Huellein J; Liberio MDS; Walther T; Wagner L; Rabe S; Ghidelli-Disse S; Bantscheff M; Oles AK; Slabicki M; Mock A; Oakes CC; Wang S; Oppermann S; Lukas M; Kim V; Sill M; Benner A; Jauch A; Sutton LA; Young E; Rosenquist R; Liu X; Jethwa A; Lee KS; Lewis J; Putzker K; Lutz C; Rossi D; Mokhir A; Oellerich T; Zirlik K; Herling M; Nguyen-Khac F; Plass C; Andersson E; Mustjoki S; von Kalle C; Ho AD; Hensel M; Duerig J; Ringshausen I; Zapatka M; Huber W; Zenz T
• Other: SURGICAL NEUROLOGY INTERNATIONAL. 2018;9:18

  Gamma knife radiosurgery in the management of endolymphatic sac tumors.

  Sinclair G; Al-Saffar Y; Brigui M; Martin H; Bystam J; Benmakhlouf H; Shamikh A; Dodoo E
• Letter: PEDIATRIC RESEARCH. 2018;83(1):2-4

  Prothrombotic state in young females with severe early-onset obesity

  Loid P; Langstrom S; Viljakainen H; Makipernaa A; Heikinheimo M; Makitie O
• Article: CYTOMETRY PART B-CLINICAL CYTOMETRY. 2018;94(1):121-128

  Reproducible diagnosis of chronic lymphocytic leukemia by flow cytometry: An European Research Initiative on CLL (ERIC) & European Society for Clinical Cell Analysis (ESCCA) Harmonisation project.

  Rawstron AC; Kreuzer K-A; Soosapilla A; Spacek M; Stehlikova O; Gambell P; McIver-Brown N; Villamor N; Psarra K; Arroz M; Milani R; de la Serna J; Cedena MT; Jaksic O; Nomdedeu J; Moreno C; Rigolin GM; Cuneo A; Johansen P; Johnsen HE; Rosenquist R; Niemann CU; Kern W; Westerman D; Trneny M; Mulligan S; Doubek M; Pospisilova S; Hillmen P; Oscier D; Hallek M; Ghia P; Montserrat E
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2018;89(6):442-449

  Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity

  Laakso S; Viljakainen H; Lipsanen-Nyman M; Turpeinen U; Ivaska KK; Anand-Ivell R; Ivell R; Makitie O
• Article: INTERNATIONAL JOURNAL OF ONCOLOGY. 2018;52(1):55-66

  MicroRNA expression profiles in non-epithelial ovarian tumors

  Chang RK; Li X; Mu N; Hrydziuszko O; Garcia-Majano B; Larson C; Lui W-O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(1):32-41

  Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function G₁₁ Mutation

  Gorvin CM; Hannan FM; Cranston T; Valta H; Makitie O; Schalin-Jantti C; Thakker RV
• Newspaper article: KNUT OCH ALICE WALLENBERGS STIFTELSE. 2018

  Förfinar kunskapen om leukemi
• Article: ONCOTARGET. 2017;8(66):110300-110310

  Cancer risk susceptibility loci in a Swedish population

  Liu W; Jiao X; Thutkawkorapin J; Mahdessian H; Lindblom A
• Article: BMC PREGNANCY AND CHILDBIRTH. 2017;17(1):420

  Maternal vitamin D status, gestational diabetes and infant birth size

  Hauta-alus HH; Viljakainen HT; Holmlund-Suila EM; Enlund-Cerullo M; Rosendahl J; Valkama SM; Helve OM; Hytinantti TK; Makitie OM; Andersson S
• Article: LEUKEMIA & LYMPHOMA. 2017;58(12):2926-2933

  Cytotoxic T cells in chronic idiopathic neutropenia express restricted antigen receptors.

  Mastrodemou S; Stalika E; Vardi A; Gemenetzi K; Spanoudakis M; Karypidou M; Mavroudi I; Hadzidimitriou A; Stavropoulos-Giokas C; Papadaki HA; Stamatopoulos K
• Article: ATHEROSCLEROSIS. 2017;267:39-48

  Network analysis reveals a causal role of mitochondrial gene activity in atherosclerotic lesion formation

  Vilne B; Skogsberg J; Asl HF; Talukdar HA; Kessler T; Bjoerkegren JLM; Schunkert H
• Article: NATURE GENETICS. 2017;49(12):1767-1778

  Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

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Caux-Moncoutier V; Chan SB; Chang-Claude J; Chanock SJ; Chen X; Cheng T-YD; Chiquette J; Christiansen H; Claes KBM; Clarke CL; Conner T; Conroy DM; Cook J; Cordina-Duverger E; Cornelissen S; Coupier I; Cox A; Cox DG; Cross SS; Cuk K; Cunningham JM; Czene K; Daly MB; Damiola F; Darabi H; Davidson R; De Leeneer K; Devilee P; Dicks E; Diez O; Ding YC; Ditsch N; Doheny KF; Domchek SM; Dorfling CM; Doerk T; dos-Santos-Silva I; Dubois S; Dugue P-A; Dumont M; Dunning AM; Durcan L; Dwek M; Dworniczak B; Eccles D; Eeles R; Ehrencrona H; Eilber U; Ejlertsen B; Ekici AB; Eliassen AH; Engel C; Eriksson M; Fachal L; Faivre L; Fasching PA; Faust U; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Foulkes WD; Friedman E; Fritschi L; Frost D; Gabrielson M; Gaddam P; Gammon MD; Ganz PA; Gapstur SM; Garber J; Garcia-Barberan V; Garcia-Saenz JA; Gaudet MM; Gauthier-Villars M; Gehrig A; Georgoulias V; Gerdes A-M; Giles GG; Glendon G; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Goodfellow P; Greene MH; 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Lissowska J; Lo W-Y; Loibl S; Long J; Loud JT; Lubinski J; Luccarini C; Lush M; MacInnis RJ; Maishman T; Makalic E; Kostovska IM; Malone KE; Manoukian S; Manson JE; Margolin S; Martens JWM; Martinez ME; Matsuo K; Mavroudis D; Mazoyer S; McLean C; Meijers-Heijboer H; Menendez P; Meyer J; Miao H; Miller A; Miller N; Mitchell G; Montagna M; Muir K; Mulligan AM; Mulot C; Nadesan S; Nathanson KL; Neuhausen SL; Nevanlinna H; Nevelsteen I; Niederacher D; Nielsen SF; Nordestgaard BG; Norman A; Nussbaum RL; Olah E; Olopade OI; Olson JE; Olswold C; Ong K-R; Oosterwijk JC; Orr N; Osorio A; Pankratz VS; Papi L; Park-Simon T-W; Paulsson-Karlsson Y; Lloyd R; Pedersen IS; Peissel B; Peixoto A; Perez JIA; Peterlongo P; Peto J; Pfeiler G; Phelan CM; Pinchev M; Plaseska-Karanfilska D; Poppe B; Porteous ME; Prentice R; Presneau N; Prokofieva D; Pugh E; Angel Pujana M; Pylkas K; Rack B; Radice P; Rahman N; Rantala J; Rappaport-Fuerhauser C; Rennert G; Rennert HS; Rhenius V; Rhiem K; Richardson A; Rodriguez GC; Romero A; Romm J; Rookus MA; Rudolph A; Ruediger T; Saloustros E; Sanders J; Sandler DP; Sangrajrang S; Sawyer EJ; Schmidt DF; Schoemaker MJ; Schumacher F; Schuermann P; Schwentner L; Scott C; Scott RJ; Seal S; Senter L; Seynaeve C; Shah M; Sharma P; Shen C-Y; Sheng X; Shimelis H; Shrubsole MJ; Shu X-O; Side LE; Singer CF; Sohn C; Southey MC; Spinelli JJ; Spurdle AB; Stegmaier C; Stoppa-Lyonnet D; Sukiennicki G; Surowy H; Sutter C; Swerdlow A; Szabo CI; Tamimi RM; Tan YY; Taylor JA; Tejada M-I; Tengstrom M; Teo SH; Terry MB; Tessier DC; Teule A; Thoene K; Thull DL; Tibiletti MG; Tihomirova L; Tischkowitz M; Toland AE; Tollenaar RAEM; Tomlinson I; Tong L; Torres D; Tranchant M; Truong T; Tucker K; Tung N; Tyrer J; Ulmer H-U; Vachon C; van Asperen CJ; Van Den Berg D; van den Ouweland AMW; van Rensburg EJ; Varesco L; Varon-Mateeva R; Vega A; Viel A; Vijai J; Vincent D; Vollenweider J; Walker L; Wang Z; Wang-Gohrke S; Wappenschmidt B; Weinberg CR; Weitzel JN; Wendt C; Wesseling J; Whittemore AS; Wijnen JT; Willett W; Winqvist R; Wolk A; Wu AH; Xia L; Yang XR; Yannoukakos D; Zaffaroni D; Zheng W; Zhu B; Ziogas A; Ziv E; Zorn KK; Gago-Dominguez M; Mannermaa A; Olsson H; Teixeira MR; Stone J; Offit K; Ottini L; Park SK; Thomassen M; Hall P; Meindl A; Schmutzler RK; Droit A; Bader GD; Pharoah PDP; Couch FJ; Easton DF; Kraft P; Chenevix-Trench G; Garcia-Closas M; Schmidt MK; Antoniou AC; Simard J
• Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(12):3132-3135

  Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome

  Pekkinen M; Grigelioniene G; Akin L; Shah K; Karaer K; Kurtoglu S; Ekbote A; Aycan Z; Sagsak E; Danda S; Astrom E; Makitie O
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(12):4526-4533

  Sex and Iron Modify Fibroblast Growth Factor 23 Concentration in 1-Year-Old Children

  Holmlund-Suila E; Enlund-Cerullo M; Valkama S; Hauta-alus H; Rosendahl J; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2017;60(12):675-679

  High bone mass due to novel LRP5 and AMER1 mutations

  Costantini A; Kekalainen P; Makitie RE; Makitie O
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(12):3195-3200

  Two novel mutations in XYLT2 cause spondyloocular syndrome

  Taylan F; Abali ZY; Jaentti N; Gunes N; Darendeliler F; Bas F; Poyrazoglu S; Tamcelik N; Tuysuz B; Makitie O
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404

  PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

  Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
• Article: INTERNATIONAL JOURNAL OF EPIDEMIOLOGY. 2017;46(6):1814-1822

  Body mass index and breast cancer survival: a Mendelian randomization analysis

  Guo Q; Burgess S; Turman C; Bolla MK; Wang Q; Lush M; Abraham J; Aittomaki K; Andrulis IL; Apicella C; Arndt V; Barrdahl M; Benitez J; Berg CD; Blomqvist C; Bojesen SE; Bonanni B; Brand JS; Brenner H; Broeks A; Burwinkel B; Caldas C; Campa D; Canzian F; Chang-Claude J; Chanock SJ; Chin S-F; Couch FJ; Cox A; Cross SS; Cybulski C; Czene K; Darabi H; Devilee P; Diver WR; Dunning AM; Earl HM; Eccles DM; Ekici AB; Eriksson M; Evans DG; Fasching PA; Figueroa J; Flesch-Janys D; Flyger H; Gapstur SM; Gaudet MM; Giles GG; Glendon G; Grip M; Gronwald J; Haeberle L; Haiman CA; Hall P; Hamann U; Hankinson S; Hartikainen JM; Hein A; Hiller L; Hogervorst FB; Holleczek B; Hooning MJ; Hoover RN; Humphreys K; Hunter DJ; Husing A; Jakubowska A; Jukkola-Vuorinen A; Kaaks R; Kabisch M; Kataja V; Knight JA; Koppert LB; Kosma V-M; Kristensen VN; Lambrechts D; Le Marchand L; Li J; Lindblom A; Lindstrom S; Lissowska J; Lubinski J; Machiela MJ; Mannermaa A; Manoukian S; Margolin S; Marme F; Martens JWM; McLean C; Menendez P; Milne RL; Mulligan AM; Muranen TA; Nevanlinna H; Neven P; Nielsen SF; Nordestgaard BG; Olson JE; Perez JIA; Peterlongo P; Phillips K-A; Poole CJ; Pylkas K; Radice P; Rahman N; Rudiger T; Rudolph A; Sawyer EJ; Schumacher F; Seibold P; Seynaeve C; Shah M; Smeets A; Southey MC; Tollenaar RAEM; Tomlinson I; Tsimiklis H; Ulmer H-U; Vachon C; van den Ouweland AMW; Van't Veer LJ; Wildiers H; Willett W; Winqvist R; Zamora MP; Chenevix-Trench G; Dork T; Easton DF; Garcia-Closas M; Kraft P; Hopper JL; Zheng W; Schmidt MK; Pharoah PDP
• Article: NUTRIENTS. 2017;9(12):E1309-1309

  Food and Nutrient Intake and Nutrient Sources in 1-Year-Old Infants in Finland: A Cross-Sectional Analysis

  Hauta-alus HH; Korkalo L; Holmlund-Suila EM; Rosendahl J; Valkama SM; Enlund-Cerullo M; Helve OM; Hytinantti TK; Makitie OM; Andersson S; Viljakainen HT
• Article: ONCOTARGET. 2017;8(61):102769-102782

  PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

  Jiao X; Aravidis C; Marikkannu R; Rantala J; Picelli S; Adamovic T; Liu T; Maguire P; Kremeyer B; Luo L; Von Holst S; Kontham V; Thutkawkorapin J; Margolin S; Du Q; Lundin J; Michailidou K; Bolla MK; Wang Q; Dennis J; Lush M; Ambrosone CB; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Beckmann MW; Blomqvist C; Blot W; Boeckx B; Bojesen SE; Bonanni B; Brand JS; Brauch H; Brenner H; Broeks A; Bruning T; Burwinkel B; Cai Q; Chang-Claude J; Couch FJ; Cox A; Cross SS; Deming-Halverson SL; Devilee P; dos-Santos-Silva I; Dork T; Eriksson M; Fasching PA; Figueroa J; Flesch-Janys D; Flyger H; Gabrielson M; Garcia-Closas M; Giles GG; Gonzalez-Neira A; Guenel P; Guo Q; Gundert M; Haiman CA; Hallberg E; Hamann U; Harrington P; Hooning MJ; Hopper JL; Huang G; Jakubowska A; Jones ME; Kerin MJ; Kosma V-M; Kristensen VN; Lambrechts D; Le Marchand L; Lubinski J; Mannermaa A; Martens JWM; Meindl A; Milne RL; Mulligan AM; Neuhausen SL; Nevanlinna H; Peto J; Pylkas K; Radice P; Rhenius V; Sawyer EJ; Schmidt MK; Schmutzler RK; Seynaeve C; Shah M; Simard J; Southey MC; Swerdlow AJ; Truong T; Wendt C; Winqvist R; Zheng W; Benitez J; Dunning AM; Pharoah PDP; Easton DF; Czene K; Hall P; Lindblom A
• Editorial: ONCOTARGET. 2017;8(59):99209-99210

  T cells in chronic lymphocytic leukemia: can they fight?

  Vardi A; Stamatopoulos K; Hadzidimitriou A
• Article: SCIENTIFIC REPORTS. 2017;7(1):15585

  Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

  Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
• Article: BREAST CANCER RESEARCH. 2017;19(1):119

  Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

  Brouckaert O; Rudolph A; Laenen A; Keeman R; Bolla MK; Wang Q; Soubry A; Wildiers H; Andrulis IL; Arndt V; Beckmann MW; Benitez J; Blomqvist C; Bojesen SE; Brauch H; Brennan P; Brenner H; Chenevix-Trench G; Choi J-Y; Cornelissen S; Couch FJ; Cox A; Cross SS; Czene K; Eriksson M; Fasching PA; Figueroa J; Flyger H; Giles GG; Gonzalez-Neira A; Guenel P; Hall P; Hollestelle A; Hopper JL; Ito H; Jones M; Kang D; Knight JA; Knight JA; Kosma V-M; Li J; Lindblom A; Lilyquist J; Lophatananon A; Mannermaa A; Manoukian S; Margolin S; Matsuo K; Muir K; Nevanlinna H; Peterlongo P; Pylkas K; Saajrang S; Seynaeve C; Shen C-Y; Shu X-O; Southey MC; Swerdlow A; Teo S-H; Tollenaar RAEM; Truong T; Tseng C-C; van den Broek AJ; van Deurzen CHM; Winqvist R; Wu AH; Yip CH; Yu J-C; Zheng W; Milne RL; Pharoah PDP; Easton DF; Schmidt MK; Garcia-Closas M; Chang-Claude J; Lambrechts D; Neven P
• Journal article: NEURO-ONCOLOGY. 2017;19(suppl_6):vi248

  TMIC-24. ASTROCYTE-DEPENDENT ENHANCEMENT OF GLIOBLASTOMA GROWTH AS A CANDIDATE THERAPEUTIC TARGET

  Mega A; Nilsen MH; Leiss LW; Sleire L; Liu J; Nelander S; Uhrbom L; Krona C; Hägerstrand D; Enger PØ; Nistér M; Östman A
• Article: NATURE. 2017;551(7678):92-94

  Association analysis identifies 65 new breast cancer risk loci

  Michailidou K; Lindstrom S; Dennis J; Beesley J; Hui S; Kar S; Lemacon A; Soucy P; Glubb D; Rostamianfar A; Bolla MK; Wang Q; Tyrer J; Dicks E; Lee A; Wang Z; Allen J; Keeman R; Eilber U; French JD; Chen XQ; Fachal L; McCue K; McCart AE; Reed AEM; Ghoussaini M; Carroll JS; Jiang X; Finucane H; Adams M; Adank MA; Ahsan H; Aittomaki K; Anton-Culver H; Antonenkova NN; Arndt V; Aronson KJ; Arun B; Auer PL; Bacot F; Barrdahl M; Baynes C; Beckmann MW; Behrens S; Benitez J; Bermisheva M; Bernstein L; Blomqvist C; Bogdanova NV; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brand JS; Brauch H; Brennan P; Brenner H; Brinton L; Broberg P; Brock IW; Broeks A; Brooks-Wilson A; Brucker SY; Bruening T; Burwinkel B; Butterbach K; Cai Q; Cai H; Caldes T; Canzian F; Carracedo A; Carter BD; Castelao JE; Chan TL; Cheng T-YD; Chia KS; Choi J-Y; Christiansen H; Clarke CL; Collee M; Conroy DM; Cordina-Duverger E; Cornelissen S; Cox DG; Cox A; Cross SS; Cunningham JM; Czene K; Daly MB; Devilee P; Doheny KF; Doerk T; dos-Santos-Silva I; Dumont M; Durcan L; Dwek M; Eccles DM; Ekici AB; Eliassen AH; Ellberg C; Elvira M; Engel C; Eriksson M; Fasching PA; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Fritschi L; Gaborieau V; Gabrielson M; Gago-Dominguez M; Gao Y-T; Gapstur SM; Garcia-Saenz JA; Gaudet MM; Georgoulias V; Giles GG; Glendon G; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Alnaes GIG; Grip M; Gronwald J; Grundy A; Guenel P; Haeberle L; Hahnen E; Haiman CA; Hakansson N; Hamann U; Hamel N; Hankinson S; Harrington P; Hart SN; Hartikainen JM; Hartman M; Hein A; Heyworth J; Hicks B; Hillemanns P; Ho DN; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Hou M-F; Hsiung C-N; Huang G; Humphreys K; Ishiguro J; Ito H; Iwasaki M; Iwata H; Jakubowska A; Janni W; John EM; Johnson N; Jones K; Jones M; Jukkola-Vuorinen A; Kaaks R; Kabisch M; Kaczmarek K; Kang D; Kasuga Y; Kerin MJ; Khan S; Khusnutdinova E; Kiiski JI; Kim S-W; Knight JA; Kosma V-M; Kristensen VN; Kruger U; Kwong A; Lambrechts D; Le Marchand L; Lee E; Lee MH; Lee JW; Lee CN; Lejbkowicz F; Li J; Lilyquist J; Lindblom A; Lissowska J; Lo W-Y; Loibl S; Long J; Lophatananon A; Lubinski J; Luccarini C; Lux MP; Ma ESK; MacInnis RJ; Maishman T; Makalic E; Malone KE; Kostovska IM; Mannermaa A; Manoukian S; Manson JE; Margolin S; Mariapun S; Martinez ME; Matsuo K; Mavroudis D; McKay J; McLean C; Meijers-Heijboer H; Meindl A; Menendez P; Menon U; Meyer J; Miao H; Miller N; Taib NAM; Muir K; Mulligan AM; Mulot C; Neuhausen SL; Nevanlinna H; Neven P; Nielsen SF; Noh D-Y; Nordestgaard BG; Norman A; Olopade OI; Olson JE; Olsson H; Olswold C; Orr N; Pankratz VS; Park SK; Park-Simon T-W; Lloyd R; Perez JIA; Peterlongo P; Peto J; Phillips K-A; Pinchev M; Plaseska-Karanfilska D; Prentice R; Presneau N; Prokofyeva D; Pugh E; Pylkas K; Rack B; Radice P; Rahman N; Rennert G; Rennert HS; Rhenius V; Romero A; Romm J; Ruddy KJ; Ruediger T; Rudolph A; Ruebner M; Rutgers EJT; Saloustros E; Sandler DP; Sangrajrang S; Sawyer EJ; Schmidt DF; Schmutzler RK; Schneeweiss A; Schoemaker MJ; Schumacher F; Schuermann P; Scott RJ; Scott C; Seal S; Seynaeve C; Shah M; Sharma P; Shen C-Y; Sheng G; Sherman ME; Shrubsole MJ; Shu X-O; Smeets A; Sohn C; Southey MC; Spinelli JJ; Stegmaier C; Stewart-Brown S; Stone J; Stram DO; Surowy H; Swerdlow A; Tamimi R; Taylor JA; Tengstrom M; Teo SH; Terry MB; Tessier DC; Thanasitthichai S; Thoene K; Tollenaar RAEM; Tomlinson I; Tong L; Torres D; Truong T; Tseng C-C; Tsugane S; Ulmer H-U; Ursin G; Untch M; Vachon C; van Asperen CJ; Van Den Berg D; van den Ouweland AMW; van der Kolk L; van der Luijt RB; Vincent D; Vollenweider J; Waisfisz Q; Wang-Gohrke S; Weinberg CR; Wendt C; Whittemore AS; Wildiers H; Willett W; Winqvist R; Wolk A; Wu AH; Xia L; Yamaji T; Yang XR; Yip CH; Yoo K-Y; Yu J-C; Zheng W; Zheng Y; Zhu B; Ziogas A; Ziv E; Lakhani SR; Antoniou AC; Droit A; Andrulis IL; Amos CI; Couch FJ; Pharoah PDP; Chang-Claude J; Hall P; Hunter DJ; Milne RL; Garcia-Closas M; Schmidt MK; Chanock SJ; Dunning AM; Edwards SL; Bader GD; Chenevix-Trench G; Simard J; Kraft P; Easton DF
• Published conference paper: JOURNAL OF INTERNAL MEDICINE. 2017;282(5):395-414

  Early stages in the ontogeny of small B-cell lymphomas: genetics and microenvironment

  Ghia P; Nadel B; Sander B; Stamatopoulos K; Stevenson FK
• Published conference paper: JOURNAL OF INTERNAL MEDICINE. 2017;282(5):371-394

  Genetic landscape and deregulated pathways in B-cell lymphoid malignancies

  Rosenquist R; Bea S; Du M-Q; Nadel B; Pan-Hammarstrom Q
• Editorial: JOURNAL OF INTERNAL MEDICINE. 2017;282(5):358-359

  Introduction to the symposium 'Targeted therapy in B-cell malignancies'

  Smedby KE; Rosenquist R
• Article: PEDIATRIC BLOOD & CANCER. 2017;64(11)

  Early presentation of osteonecrosis in acute lymphoblastic leukemia: Two children from the Nordic and Baltic cohort

  Mogensen SS; Harila-Saari A; Frandsen TL; Lahteenmaki P; Castor A; Kohonen I; Schmiegelow K; Makitie O
• Conference publication: NEURO-ONCOLOGY. 2017;19:248

  ASTROCYTE-DEPENDENT ENHANCEMENT OF GLIOBLASTOMA GROWTH AS A CANDIDATE THERAPEUTIC TARGET

  Mega A; Nilsen MH; Leiss LW; Sleire L; Liu J; Nelander S; Uhrbom L; Krona C; Hagerstrand D; Enger PO; Nister M; Ostman A
• Article: ONCOTARGET. 2017;8(49):84671-84684

  Glioblastoma and glioblastoma stem cells are dependent on functional MTH1

  Pudelko L; Rouhi P; Sanjiv K; Gad H; Kalderen C; Hoglund A; Squatrito M; Schuhmacher AJ; Edwards S; Hagerstrand D; Berglund UW; Helleday T; Brautigam L
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2017;15:18

  Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

  Seppala T; Pylvanainen K; Evans DG; Jarvinen H; Renkonen-Sinisalo L; Bernstein I; Holinski-Feder E; Sala P; Lindblom A; Macrae F; Blanco I; Sijmons R; Jeffries J; Vasen H; Burn J; Nakken S; Hovig E; Rodland EA; Tharmaratnam K; Cappel WHDVTN; Hill J; Wijnen J; Jenkins M; Genuardi M; Green K; Lalloo F; Sunde L; Mints M; Bertario L; Pineda M; Navarro M; Morak M; Frayling IM; Plazzer J-P; Sampson JR; Capella G; Moslein G; Mecklin J-P; Moller P
• Article: LEUKEMIA & LYMPHOMA. 2017;58(10):2419-2425

  The inhibitory receptor toll interleukin-1R 8 (TIR8/IL-1R8/SIGIRR) is downregulated in chronic lymphocytic leukemia.

  Vilia MG; Fonte E; Veliz Rodriguez T; Tocchetti M; Ranghetti P; Scarfò L; Papakonstantinou N; Ntoufa S; Stamatopoulos K; Ghia P; Muzio M
• Article: PLOS GENETICS. 2017;13(10):e1007012

  Genetic anticipation in Swedish Lynch syndrome families

  von Salome J; Boonstra PS; Karimi M; Silander G; Stenmark-Askmalm M; Gebre-Medhin S; Aravidis C; Nilbert M; Lindblom A; Lagerstedt-Robinson K
• Article: TUMOR BIOLOGY. 2017;39(10):1010428317720643

  Tumor SHB gene expression affects disease characteristics in human acute myeloid leukemia.

  Jamalpour M; Li X; Cavelier L; Gustafsson K; Mostoslavsky G; Höglund M; Welsh M
• Article: OSTEOPOROSIS INTERNATIONAL. 2017;28(10):3023-3032

  PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

  Kampe AJ; Costantini A; Makitie RE; Jantti N; Valta H; Mayranpaa M; Kroger H; Pekkinen M; Taylan F; Jiao H; Makitie O
• Article: ACTA NEUROCHIRURGICA. 2017;159(10):1857-1868

  Multidisciplinary management of clival chordomas; long-term clinical outcome in a single-institution consecutive series

  Forander P; Bartek JJ; Fagerlund M; Benmaklouf H; Dodoo E; Shamikh A; Stjarne P; Mathiesen T
• Letter: EUROPEAN JOURNAL OF NUTRITION. 2017;56(6):2209-2210

  Reply to Letter to the Editor to Maternal vitamin D status during pregnancy in Europe: the two sides of the story

  Hauta-alus HH; Holmlund-Suila EM; Andersson S; Makitie OM; Viljakainen HT
• Article: GUT. 2017;66(9):1657-1664

  Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

  Moller P; Seppala T; Bernstein I; Holinski-Feder E; Sala P; Evans DG; Lindblom A; Macrae F; Blanco I; Sijmons R; Jeffries J; Vasen H; Burn J; Nakken S; Hovig E; Rodland EA; Tharmaratnam K; Cappel WHDVTN; Hill J; Wijnen J; Jenkins M; Green K; Lalloo F; Sunde L; Mints M; Bertario L; Pineda M; Navarro M; Morak M; Renkonen-Sinisalo L; Frayling IM; Plazzer J-P; Pylvanainen K; Genuardi M; Mecklin J-P; Moslein G; Sampson JR; Capella G
• Article: CLINICAL CANCER RESEARCH. 2017;23(17):5292-5301

  Chronic Lymphocytic Leukemia with Mutated IGHV4-34 Receptors: Shared and Distinct Immunogenetic Features and Clinical Outcomes

  Xochelli A; Baliakas P; Kavakiotis I; Agathangelidis A; Sutton L-A; Minga E; Ntoufa S; Tausch E; Yan X-J; Shanafelt T; Plevova K; Boudjogra M; Rossi D; Davis Z; Navarro A; Sandberg Y; Vojdeman FJ; Scarfo L; Stavroyianni N; Sudarikov A; Veronese S; Tzenou T; Karan-Djurasevic T; Catherwood M; Kienle D; Chatzouli M; Facco M; Bahlo J; Pott C; Pedersen LB; Mansouri L; Smedby KE; Chu CC; Giudicelli V; Lefranc M-P; Panagiotidis P; Juliusson G; Anagnostopoulos A; Vlahavas I; Antic D; Trentin L; Montillo M; Niemann C; Doehner H; Langerak AW; Pospisilova S; Hallek M; Campo E; Chiorazzi N; Maglaveras N; Oscier D; Gaidano G; Jelinek DF; Stilgenbauer S; Chouvarda I; Darzentas N; Belessi C; Davi F; Hadzidimitriou A; Rosenquist R; Ghia P; Stamatopoulos K
• Article: BLOOD ADVANCES. 2017;1(19):1473-1477

  Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

  Schwab C; Nebral K; Chilton L; Leschi C; Waanders E; Boer JM; Zaliova M; Sutton R; Ofverholm II; Ohki K; Yamashita Y; Groeneveld-Krentz S; Fronkova E; Bakkus M; Tchinda J; Barbosa TDC; Fazio G; Mlynarski W; Pastorczak A; Cazzaniga G; Pombo-de-Oliveira MS; Trka J; Kirschner-Schwabe R; Imamura T; Barbany G; Stanulla M; Attarbaschi A; Panzer-Gruemayer R; Kuiper RP; den Boer ML; Cave H; Moorman AV; Harrison CJ; Strehl S
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039

  Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

  Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Makitie O; Lindstrand A
• Article: CLINICAL GENETICS. 2017;92(2):204-207

  Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype

  Klemetti P; Valta H; Kostjukovits S; Taskinen M; Toiviainen-Salo S; Makitie O
• Review: CURRENT OSTEOPOROSIS REPORTS. 2017;15(4):303-310

  Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

  Makitie RE; Kampe AJ; Taylan F; Makitie O
• Letter: JOURNAL OF CLINICAL IMMUNOLOGY. 2017;37(6):508-510

  Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia

  Biggs CM; Kostjukovits S; Dobbs K; Laakso S; Klemetti P; Valta H; Taskinen M; Makitie O; Notarangelo LD
• Article: BONE. 2017;101:3-9

  Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology

  Makitie RE; Niinimaki T; Nieminen MT; Schalin-Jantti C; Niinimaki J; Makitie O
• Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017;140(2):612-614.e5

  Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

  Kostjukovits S; Klemetti P; Valta H; Martelius T; Notarangelo LD; Seppanen M; Taskinen M; Makitie O
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2017;26(8):1248-1254

  Telomere Length Is Predictive of Breast Cancer Risk in BRCA2 Mutation Carriers.

  Thorvaldsdottir B; Aradottir M; Stefansson OA; Bodvarsdottir SK; Eyfjörd JE
• Conference publication: BONE ABSTRACTS. 2017

  Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility

  Costantini A; Skarp S; Kampe A; Pettersson M; Makitie R; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
• Journal article: BONE ABSTRACTS. 2017

  A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism

  Doulgeraki A; Costantini A; Kampe A; Karavitakis E; Jantti N; Krallis P; Athanasopoulou H; Xaidara A; Makitie O
• Article: ACTA OTO-LARYNGOLOGICA. 2017;137(7):778-785

  Cachexia at diagnosis is associated with poor survival in head and neck cancer patients

  Orell-Kotikangas H; Osterlund P; Makitie O; Saarilahti K; Ravasco P; Schwab U; Makitie AA
• Corrigendum: PLOS PATHOGENS. 2017;13(7):e1006492

  Correction: Seminal plasma induces inflammation and enhances HIV-1 replication in human cervical tissue explants.

  Introini A; Boström S; Bradley F; Gibbs A; Glaessgen A; Tjernlund A; Broliden K
• Article: LEUKEMIA. 2017;31(7):1547-1554

  EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia

  Young E; Noerenberg D; Mansouri L; Ljungstrom V; Frick M; Sutton L-A; Blakemore SJ; Galan-Sousa J; Plevova K; Baliakas P; Rossi D; Clifford R; Roos-Weil D; Navrkalova V; Doerken B; Schmitt CA; Smedby KE; Juliusson G; Giacopelli B; Blachly JS; Belessi C; Panagiotidis P; Chiorazzi N; Davi F; Langerak AW; Oscier D; Schuh A; Gaidano G; Ghia P; Xu W; Fan L; Bernard OA; Nguyen-Khac F; Rassenti L; Li J; Kipps TJ; Stamatopoulos K; Pospisilova S; Zenz T; Oakes CC; Strefford JC; Rosenquist R; Damm F
• Article: LEUKEMIA. 2017;31(7):1555-1561

  Restrictions in the T-cell repertoire of chronic lymphocytic leukemia: high-throughput immunoprofiling supports selection by shared antigenic elements.

  Vardi A; Vlachonikola E; Karypidou M; Stalika E; Bikos V; Gemenetzi K; Maramis C; Siorenta A; Anagnostopoulos A; Pospisilova S; Maglaveras N; Chouvarda I; Stamatopoulos K; Hadzidimitriou A
• Article: LANCET HAEMATOLOGY. 2017;4(7):e334-e340

  Monoclonal B-cell lymphocytosis in a hospital-based UK population and a rural Ugandan population: a cross-sectional study

  Rawstron AC; Ssemaganda A; de Tute R; Doughty C; Newton D; Vardi A; Evans PAS; Stamatopoulos K; Owen RG; Lightfoot T; Wakeham K; Karabarinde A; Asiki G; Newton R
• Article: AMERICAN JOURNAL OF PATHOLOGY. 2017;187(7):1454-1458

  Numerous Ontogenetic Roads to Mantle Cell Lymphoma Immunogenetic and Immunohistochemical Evidence

  Pouliou E; Xochelli A; Kanellis G; Stalika E; Sutton L-A; Navarro A; Agathangelidis A; Dimosthenous K; Anagnostopoulos A; Patsouris E; Korkolopoulou P; Sundstrom C; Ghia P; Ponzoni M; Sander B; Campo E; Rosenquist R; Hadzidimitriou A; Stamatopoulos K; Papadaki T
• Editorial: LEUKEMIA. 2017;31(7):1477-1481

  Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: updated ERIC recommendations

  Rosenquist R; Ghia P; Hadzidimitriou A; Sutton L-A; Agathangelidis A; Baliakas P; Darzentas N; Giudicelli V; Lefranc M-P; Langerak AW; Belessi C; Davi F; Stamatopoulos K
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(7):2340-2348

  Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3

  Wesseling-Perry K; Makitie RE; Valimaki V-V; Laine TK; Laine CM; Valimaki MJ; Pereira RC; Makitie O
• Article: NEUROBIOLOGY OF AGING. 2017;55:167-171

  Maintained memory in aging is associated with young epigenetic age

  Degerman S; Josefsson M; Adolfsson AN; Wennstedt S; Landfors M; Haider Z; Pudas S; Hultdin M; Nyberg L; Adolfsson R
• Journal article: CANCER RESEARCH. 2017;77(13_Supplement):2788

  Abstract 2788: High ALDH1, S phase fraction, p16INK4A in esophageal squamous cell carcinoma could predict response to neoadjuvant chemotherapy

  Kumar R; Kannan RR; Verma AK; Talukdar A; Deka MK; Tapkire R; Vermani L; Ghosh SK
• Article: PLOS ONE. 2017;12(6):e0179660

  Metabolic milieu associates with impaired skeletal characteristics in obesity

  Viljakainen HT; Koistinen HA; Tervahartiala T; Sorsa T; Andersson S; Makitie O
• Article: NATURE COMMUNICATIONS. 2017;8:15746

  Distinct homotypic B-cell receptor interactions shape the outcome of chronic lymphocytic leukaemia.

  Minici C; Gounari M; Übelhart R; Scarfò L; Dühren-von Minden M; Schneider D; Tasdogan A; Alkhatib A; Agathangelidis A; Ntoufa S; Chiorazzi N; Jumaa H; Stamatopoulos K; Ghia P; Degano M
• Editorial: HAEMATOLOGICA. 2017;102(6):968-971

  Immunoglobulin genes in chronic lymphocytic leukemia: key to understanding the disease and improving risk stratification

  Sutton L-A; Hadzidimitriou A; Baliakas P; Agathangelidis A; Langerak AW; Stilgenbauer S; Pospisilova S; Davis Z; Forconi F; Davi F; Ghia P; Rosenquist R; Stamatopoulos K
• Article: JOURNAL OF GENETIC COUNSELING. 2017;26(3):447-454

  Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden

  Georgsson S; Sahlin E; Iwarsson M; Nordenskjold M; Gustavsson P; Iwarsson E
• Article: CANCER RESEARCH. 2017;77(11):2789-2799

  BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

  Shimelis H; Mesman RLS; Von Nicolai C; Ehlen A; Guidugli L; Martin C; Calleja FMGR; Meeks H; Hallberg E; Hinton J; Lilyquist J; Hu C; Aalfs CM; Aittomaki K; Andrulis I; Anton-Culver H; Arndt V; Beckmann MW; Benitez J; Bogdanova NV; Bojesen SE; Bolla MK; Borresen-Dale A-L; Brauch H; Brennan P; Brenner H; Broeks A; Brouwers B; Bruning T; Burwinkel B; Chang-Claude J; Chenevix-Trench G; Cheng C-Y; Choi J-Y; Collee JM; Cox A; Cross SS; Czene K; Darabi H; Dennis J; Dork T; dos-Santos-Silva I; Dunning AM; Fasching PA; Figueroa J; Flyger H; Garcia-Closas M; Giles GG; Glendon G; Guenel P; Haiman CA; Hall P; Hamann U; Hartman M; Hogervorst FB; Hollestelle A; Hopper JL; Ito H; Jakubowska A; Kang D; Kosma V-M; Kristensen V; Lai K-N; Lambrechts D; Le Marchand L; Li J; Lindblom A; Lophatananon A; Lubinski J; Machackova E; Mannermaa A; Margolin S; Marme F; Matsuo K; Miao H; Michailidou K; Milne RL; Muir K; Neuhausen SL; Nevanlinna H; Olson JE; Olswold C; Oosterwijk JJC; Osorio A; Peterlongo P; Peto J; Pharoah PDP; Pylkas K; Radice P; Rashid MU; Rhenius V; Rudolph A; Sangrajrang S; Sawyer EJ; Schmidt MK; Schoemaker MJ; Seynaeve C; Shah M; Shen C-Y; Shrubsole M; Shu X-O; Slager S; Southey MC; Stram DO; Swerdlow A; Teo SH; Tomlinson I; Torres D; Truong T; van Asperen CJ; van der Kolk LE; Wang Q; Winqvist R; Wu AH; Yu J-C; Zheng W; Zheng Y; Leary J; Walker L; Foretova L; Fostira F; Claes KBM; Varesco L; Moghadasi S; Easton DF; Spurdle A; Devilee P; Vrieling H; Monteiro ANA; Goldgar DE; Carreira A; Vreeswijk MPG; Couch FJ
• Journal article: PEDIATRIC RHEUMATOLOGY. 2017;15:44

  Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
• Article: ONCOTARGET. 2017;8(21):35339-35350

  Targeted sequencing of tonsillar and base of tongue cancer and human papillomavirus positive unknown primary of the head and neck reveals prognostic effects of mutated FGFR3

  Bersani C; Sivars L; Haeggblom L; DiLorenzo S; Mints M; Ahrlund-Richter A; Tertipis N; Munck-Wikland E; Nasman A; Ramqvist T; Dalianis T
• Article: PLOS ONE. 2017;12(5):e0176466

  Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

  Andersson K; Dahllof G; Lindahl K; Kindmark A; Grigelioniene G; Astrom E; Malmgren B
• Article: PEDIATRIC RESEARCH. 2017;81(5):731-735

  25-hydroxyvitamin D correlates with inflammatory markers in cord blood of healthy newborns

  Rosendahl J; Holmlund-Suila E; Helve O; Viljakainen H; Hauta-alus H; Valkama S; Enlund-Cerullo M; Hytinantti T; Tervahartiala T; Sorsa T; Makitie O; Andersson S
• Article: BONE MARROW TRANSPLANTATION. 2017;52(5):711-716

  Skeletal outcome in long-term survivors of childhood high-risk neuroblastoma treated with high-dose therapy and autologous stem cell rescue

  Utriainen P; Vatanen A; Toiviainen-Salo S; Saarinen-Pihkala U; Makitie O; Jahnukainen K
• Article: JOURNAL OF MEDICAL GENETICS. 2017;54(5):365-370

  Decreased telomere length in children with cartilage-hair hypoplasia

  Kostjukovits S; Degerman S; Pekkinen M; Klemetti P; Landfors M; Roos G; Taskinen M; Makitie O
• Article: GENETICS IN MEDICINE. 2017;19(5):599-603

  Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

  Muranen TA; Greco D; Blomqvist C; Aittomaki K; Khan S; Hogervorst F; Verhoef S; Pharoah PDP; Dunning AM; Shah M; Luben R; Bojesen SE; Nordestgaard BG; Schoemaker M; Swerdlow A; Garcia-Closas M; Figueroa J; Doerk T; Bogdanova NV; Hall P; Li J; Khusnutdinova E; Bermisheva M; Kristensen V; Borresen-Dale A-L; Peto J; Silva IDS; Couch FJ; Olson JE; Hillemans P; Park-Simon T-W; Brauch H; Hamann U; Burwinkel B; Marme F; Meindl A; Schmutzler RK; Cox A; Cross SS; Sawyer EJ; Tomlinson I; Lambrechts D; Moisse M; Lindblom A; Margolin S; Hollestelle A; Martens JWM; Fasching PA; Beckmann MW; Andrulis IL; Knight JA; Anton-Culver H; Ziogas A; Giles GG; Milne RL; Brenner H; Arndt V; Mannermaa A; Kosma V-M; Chang-Claude J; Rudolph A; Devilee P; Seynaeve C; Hopper JL; Southey MC; John EM; Whittemore AS; Bolla MK; Wang Q; Michailidou K; Dennis J; Easton DF; Schmidt MK; Nevanlinna H
• Article: PLOS PATHOGENS. 2017;13(5):e1006402

  Seminal plasma induces inflammation and enhances HIV-1 replication in human cervical tissue explants

  Introini A; Bostrom S; Bradley F; Gibbs A; Glaessgen A; Tjernlund A; Broliden K
• Article: ORAL ONCOLOGY. 2017;68:53-59

  A model using concomitant markers for predicting outcome in human papillomavirus positive oropharyngeal cancer

  Bersani C; Mints M; Tertipis N; Haeggblom L; Sivars L; Ahrlund-Richter A; Vlastos A; Smedberg C; Grun N; Munck-Wikland E; Nasman A; Ramqvist T; Dalianis T
• Article: NATURE GENETICS. 2017;49(5):680-691

  Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

  Phelan CM; Kuchenbaecker KB; Tyrer JP; Kar SP; Lawrenson K; Winham SJ; Dennis J; Pirie A; Riggan MJ; Chornokur G; Earp MA; Lyra PCJ; Lee JM; Coetzee S; Beesley J; McGuffog L; Soucy P; Dicks E; Lee A; Barrowdale D; Lecarpentier J; Leslie G; Aalfs CM; Aben KKH; Adams M; Adlard J; Andrulis IL; Anton-Culver H; Antonenkova N; Aravantinos G; Arnold N; Arun BK; Arver B; Azzollini J; Balmana J; Banerjee SN; Barjhoux L; Barkardottir RB; Bean Y; Beckmann MW; Beeghly-Fadiel A; Benitez J; Bermisheva M; Bernardini MQ; Birrer MJ; Bjorge L; Black A; Blankstein K; Blok MJ; Bodelon C; Bogdanova N; Bojesen A; Bonanni B; Borg A; Bradbury AR; Brenton JD; Brewer C; Brinton L; Broberg P; Brooks-Wilson A; Bruinsma F; Brunet J; Buecher B; Butzow R; Buys SS; Caldes T; Caligo MA; Campbell I; Cannioto R; Carney ME; Cescon T; Chan SB; Chang-Claude J; Chanock S; Chen XQ; Chiew Y-E; Chiquette J; Chung WK; Claes KBM; Conner T; Cook LS; Cook J; Cramer DW; Cunningham JM; D'Aloisio AA; Daly MB; Damiola F; Damirovna SD; Dansonka-Mieszkowska A; Dao F; Davidson R; DeFazio A; Delnatte C; Doheny KF; Diez O; Ding YC; Doherty JA; Domchek SM; Dorfling CM; Dork T; Dossus L; Duran M; Durst M; Dworniczak B; Eccles D; Edwards T; Eeles R; Eilber U; Ejlertsen B; Ekici AB; Ellis S; Elvira M; Eng KH; Engel C; Evans DG; Fasching PA; Ferguson S; Ferrer SF; Flanagan JM; Fogarty ZC; Fortner RT; Fostira F; Foulkes WD; Fountzilas G; Fridley BL; Friebel TM; Friedman E; Frost D; Ganz PA; Garber J; Garcia MJ; Garcia-Barberan V; Gehrig A; Gentry-Maharaj A; Gerdes A-M; Giles GG; Glasspool R; Glendon G; Godwin AK; Goldgar DE; Goranova T; Gore M; Greene MH; Gronwald J; Gruber S; Hahnen E; Haiman CA; Hakansson N; Hamann U; Hansen TVO; Harrington PA; Harris HR; Hauke J; Hein A; Henderson A; Hildebrandt MAT; Hillemanns P; Hodgson S; Hogdall CK; Hogdall E; Hogervorst FBL; Holland H; Hooning MJ; Hosking K; Huang R-Y; Hulick PJ; Hung J; Hunter DJ; Huntsman DG; Huzarski T; Imyanitov EN; Isaacs C; Iversen ES; Izatt L; Izquierdo A; Jakubowska A; James P; Janavicius R; Jernetz M; Jensen A; Jensen UB; John EM; Johnatty S; Jones ME; Kannisto P; Karlan BY; Karnezis A; Kast K; Kennedy CJ; Khusnutdinova E; Kiemeney LA; Kiiski JI; Kim S-W; Kjaer SK; Kobel M; Kopperud RK; Kruse TA; Kupryjanczyk J; Kwong A; Laitman Y; Lambrechts D; Larranaga N; Larson MC; Lazaro C; Le ND; Le Marchand L; Lee JW; Lele SB; Leminen A; Leroux D; Lester J; Lesueur F; Levine DA; Liang D; Liebrich C; Lilyquist J; Lipworth L; Lissowska J; Lu KH; Lubinski J; Luccarini C; Lundvall L; Mai PL; Mendoza-Fandino G; Manoukian S; Massuger LFAG; May T; Mazoyer S; McAlpine JN; McGuire V; McLaughlin JR; McNeish I; Meijers-Heijboer H; Meindl A; Menon U; Mensenkamp AR; Merritt MA; Milne RL; Mitchell G; Modugno F; Moes-Sosnowska J; Moffitt M; Montagna M; Moysich KB; Mulligan AM; Musinsky J; Nathanson KL; Nedergaard L; Ness RB; Neuhausen SL; Nevanlinna H; Niederacher D; Nussbaum RL; Odunsi K; Olah E; Olopade OI; Olsson H; Olswold C; O'Malley DM; Ong K-R; Onland-Moret NC; Orr N; Orsulic S; Osorio A; Palli D; Papi L; Park-Simon T-W; Paul J; Pearce CL; Pedersen IS; Peeters PHM; Peissel B; Peixoto A; Pejovic T; Pelttari LM; Permuth JB; Peterlongo P; Pezzani L; Pfeiler G; Phillips K-A; Piedmonte M; Pike MC; Piskorz AM; Poblete SR; Pocza T; Poole EM; Poppe B; Porteous ME; Prieur F; Prokofyeva D; Pugh E; Pujana MA; Pujol P; Radice P; Rantala J; Rappaport-Fuerhauser C; Rennert G; Rhiem K; Rice P; Richardson A; Robson M; Rodriguez GC; Rodriguez-Antona C; Romm J; Rookus MA; Rossing MA; Rothstein JH; Rudolph A; Runnebaum IB; Salvesen HB; Sandler DP; Schoemaker MJ; Senter L; Setiawan VW; Severi G; Sharma P; Shelford T; Siddiqui N; Side LE; Sieh W; Singer CF; Sobol H; Song H; Southey MC; Spurdle AB; Stadler Z; Steinemann D; Stoppa-Lyonnet D; Sucheston-Campbell LE; Sukiennicki G; Sutphen R; Sutter C; Swerdlow AJ; Szabo CI; Szafron L; Tan YY; Taylor JA; Tea M-K; Teixeira MR; Teo S-H; Terry KL; Thompson PJ; Thomsen LCV; Thull DL; Tihomirova L; Tinker AV; Tischkowitz M; Tognazzo S; Toland AE; Tone A; Trabert B; Travis RC; Trichopoulou A; Tung N; Tworoger SS; Van Altena AM; Van den Berg D; van der Hout AH; van der Luijt RB; Van Heetvelde M; Van Nieuwenhuysen E; Van Rensburg EJ; Vanderstichele A; Varon-Mateeva R; Vega A; Edwards DV; Vergote I; Vierkant RA; Vijai J; Vratimos A; Walker L; Walsh C; Wand D; Wang-Gohrke S; Wappenschmidt B; Webb PM; Weinberg CR; Weitzel JN; Wentzensen N; Whittemore AS; Wijnen JT; Wilkens LR; Wolk A; Woo M; Wu X; Wu AH; Yang H; Yannoukakos D; Ziogas A; Zorn KK; Narod SA; Easton DF; Amos CI; Schildkraut JM; Ramus SJ; Ottini L; Goodman MT; Park- SK; Kelemen LE; Risch HA; Thomassen M; Offit K; Simard J; Schmutzler RK; Hazelett D; Monteiro AN; Couch FJ; Berchuck A; Chenevix-Trench G; Goode EL; Sellers TA; Gayther SA; Antoniou AC; Pharoah PDP
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(5):1116-1125

  Abnormally High and Heterogeneous Bone Matrix Mineralization After Childhood Solid Organ Transplantation: A Complex Pathology of Low Bone Turnover and Local Defects in Mineralization

  Fratzl-Zelman N; Valta H; Pereira RC; Misof BM; Roschger P; Jalanko H; Wesseling-Perry K; Klaushofer K; Makitie O
• Corrigendum: NATURE. 2017;544(7651):508

  MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool (vol 508, pg 215, 2014)

  Gad H; Koolmeister T; Jemth A-S; Eshtad S; Jacques SA; Strom CE; Svensson LM; Schultz N; Lundback T; Einarsdottir BO; Saleh A; Gokturk C; Baranczewski P; Svensson R; Berntsson RP-A; Gustafsson R; Stromberg K; Sanjiv K; Jacques-Cordonnier M-C; Desroses M; Gustavsson A-L; Olofsson R; Johansson F; Homan EJ; Loseva O; Brautigam L; Johansson L; Hoglund A; Hagenkort A; Pham T; Altun M; Gaugaz FZ; Vikingsson S; Evers B; Henriksson M; Vallin KSA; Wallner OA; Hammarstrom LGJ; Wiita E; Almlof I; Kalderen C; Axelsson H; Djureinovic T; Puigvert JC; Haggblad M; Jeppsson F; Martens U; Lundin C; Lundgren B; Granelli I; Jensen AJ; Artursson P; Nilsson JA; Stenmark P; Scobie M; Berglund UW; Helleday T
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2017;12(1):73

  Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

  Tegelberg S; Tomasic N; Kallijarvi J; Purhonen J; Elmer E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
• Article: AMERICAN JOURNAL OF EPIDEMIOLOGY. 2017;185(8):681-687

  Possible Interaction Between Cigarette Smoking and HLA-DRB1 Variation in the Risk of Follicular Lymphoma

  Baecklund F; Foo J-N; Askling J; Eloranta S; Glimelius I; Liu J; Hjalgrim H; Rosenquist R; Padyukov L; Smedby KE
• Article: SCIENTIFIC REPORTS. 2017;7(1):623

  Flow Cytometric Measurement of Blood Cells with BCR-ABL1 Fusion Protein in Chronic Myeloid Leukemia

  Lof L; Arngarden L; Olsson-Stromberg U; Siart B; Jansson M; Dahlin JS; Thorn I; Christiansson L; Hermansson M; Larsson A; Ahlstrand E; Walinder G; Soderberg O; Rosenquist R; Landegren U; Kamali-Moghaddam M
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2017;25(4):432-438

  Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

  Walker L; Marquart L; Pearson J; Wiggins G; O'Mara T; Parsons MT; Barrowdale D; McGuffog L; Dennis J; Benitez J; Slavin TP; Radice P; Frost D; Godwin AK; Meindl A; Schmutzler RK; Isaacs C; Peshkin BN; Caldes T; Hogervorst FBL; Lazaro C; Jakubowska A; Montagna M; Chen X; Offit K; Hulick PJ; Andrulis IL; Lindblom A; Nussbaum RL; Nathanson KL; Chenevix-Trench G; Antoniou AC; Couch FJ; Spurdle AB
• Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506

  Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

  Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783

  A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

  Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
• Article: CLINICAL DYSMORPHOLOGY. 2017;26(2):121-123

  The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family

  Iqbal M; Muhammad N; Ali SA; Kostjukovits S; Makitie O; Naz S
• Article: ANTICANCER RESEARCH. 2017;37(4):1831-1835

  Defining New Colorectal Cancer Syndromes in a Population-based Cohort of the Disease

  Forsberg A; Keranen A; Von Holst S; Picelli S; Papadogiannakis N; Ghazi S; Lindblom A
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(4):1333-1339

  Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta

  Vuorimies I; Mayranpaa MK; Valta H; Kroger H; Toiviainen-Salo S; Makitie O
• Article: CIRCULATION-GENOMIC AND PRECISION MEDICINE. 2017;10(2):e001664

  Additional Candidate Genes for Human Atherosclerotic Disease Identified Through Annotation Based on Chromatin Organization

  Haitjema S; Meddens CA; van der Laan SW; Kofink D; Harakalova M; Tragante V; Asl HF; van Setten J; Brandt MM; Bis JC; O'Donnell C; Cheng C; Hoefer IE; Waltenberger J; Biessen E; Jukema JW; Doevendans PAFM; Nieuwenhuis EES; Erdmann J; Bjorkegren JLM; Pasterkamp G; Asselbergs FW; den Ruijter HM; Mokry M
• Article: HUMAN GENETICS. 2017;136(4):463-479

  Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

  Depienne C; Nava C; Keren B; Heide S; Rastetter A; Passemard S; Chantot-Bastaraud S; Moutard M-L; Agrawal PB; VanNoy G; Stoler JM; Amor DJ; de Villemeur TB; Doummar D; Alby C; Cormier-Daire V; Garel C; Marzin P; Scheidecker S; de Saint-Martin A; Hirsch E; Korff C; Bottani A; Faivre L; Verloes A; Orzechowski C; Burglen L; Leheup B; Roume J; Andrieux J; Sheth F; Datar C; Parker MJ; Pasquier L; Odent S; Naudion S; Delrue M-A; Le Caignec C; Vincent M; Isidor B; Renaldo F; Stewart F; Toutain A; Koehler U; Hackl B; von Stulpnagel C; Kluger G; Moller RS; Pal D; Jonson T; Soller M; Verbeek NE; van Haelst MM; de Kovel C; Koeleman B; Monroe G; van Haaften G; Study DDD; Attie-Bitach T; Boutaud L; Heron D; Mignot C
• Article: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY. 2017;61(4):e02173-e02116

  Subinhibitory Concentrations of Bacteriostatic Antibiotics Induce relA-Dependent and relA-Independent Tolerance to β-Lactams

  Kudrin P; Varik V; Oliveira SRA; Beljantseva J; Santos TDP; Dzhygyr I; Rejman D; Cava F; Tenson T; Hauryliuk V
• Article: BMC PEDIATRICS. 2017;17(1):91

  Towards evidence-based vitamin D supplementation in infants: vitamin D intervention in infants (VIDI) - study design and methods of a randomised controlled double-blinded intervention study

  Helve O; Viljakainen H; Holmlund-Suila E; Rosendahl J; Hauta-alus H; Enlund-Cerullo M; Valkama S; Heinonen K; Raikkonen K; Hytinantti T; Makitie O; Andersson S
• Article: ANTICANCER RESEARCH. 2017;37(3):1257-1262

  Parent of Origin and Prognosis in Familial Breast Cancer in Sweden

  Wendt C; Lindblom A; Arver B; Von Wachenfeldt A; Margolin S
• Article: ONCOTARGET. 2017;8(11):18381-18398

  TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

  Fagerholm R; Khan S; Schmidt MK; Garcia-Closas M; Heikkila P; Saarela J; Beesley J; Jamshidi M; Aittomaki K; Liu J; Ali HR; Andrulis IL; Beckmann MW; Behrens S; Blows FM; Brenner H; Chang-Claude J; Couch FJ; Czene K; Fasching PA; Figueroa J; Floris G; Glendon G; Guo Q; Hall P; Hallberg E; Hamann U; Holleczek B; Hooning MJ; Hopper JL; Jager A; Kabisch M; Keeman R; Kosma V-M; Lambrechts D; Lindblom A; Mannermaa A; Margolin S; Provenzano E; Shah M; Southey MC; Dennis J; Lush M; Michailidou K; Wang Q; Bolla MK; Dunning AM; Easton DF; Pharoah PDP; Chenevix-Trench G; Blomqvist C; Nevanlinna H
• Letter: LEUKEMIA & LYMPHOMA. 2017;58(3):726-728

  Tp53 gene p72R polymorphism in chronic lymphocytic leukemia: incidence and clinical significance amongst cases with unmutated immunoglobulin receptors.

  Gemenetzi K; Galigalidou C; Vlachonikola E; Stalika E; Xochelli A; Baliakas P; Karypidou M; Touloumenidou T; Minga E; Douka V; Iskas M; Athanasiadou A; Makris A; Stavroyianni N; Anagnostopoulos A; Hadzidimitriou A; Stamatopoulos K
• Doctoral thesis: 2017

  Identification and evaluation of novel prognostic genetic markers for childhood acute lymphoblastic leukemia

  Öfverholm I
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2017;37(3):534-542

  Poliovirus Receptor-Related 2 A Cholesterol-Responsive Gene Affecting Atherosclerosis Development by Modulating Leukocyte Migration

  Rossignoli A; Shang M-M; Gladh H; Moessinger C; Asl HF; Talukdar HA; Franzen O; Mueller S; Bjorkegren JLM; Folestad E; Skogsberg J
• Article: HAEMATOLOGICA. 2017;102(3):562-572

  T cells in chronic lymphocytic leukemia display dysregulated expression of immune checkpoints and activation markers

  Palma M; Gentilcore G; Heimersson K; Mozaffari F; Nasman-Glaser B; Young E; Rosenquist R; Hansson L; Osterborg A; Mellstedt H
• Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(3):806-808

  CRTAP variants in early-onset osteoporosis and recurrent fractures

  Costantini A; Vuorimies I; Makitie R; Mayranpaa MK; Becker J; Pekkinen M; Valta H; Netzer C; Kampe A; Taylan F; Jiao H; Makitie O
• Article: HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK. 2017;39(3):419-426

  Human papillomavirus DNA detection in fine-needle aspirates as indicator of human papillomavirus-positive oropharyngeal squamous cell carcinoma: A prospective study

  Sivars L; Landin D; Haeggblom L; Tertipis N; Grun N; Bersani C; Marklund L; Ghaderi M; Nasman A; Ramqvist T; Nordfors C; Munck-Wikland E; Tani E; Dalianis T
• Article: GUT. 2017;66(3):464-472

  Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

  Moller P; Seppala T; Bernstein I; Holinski-Feder E; Sala P; Evans DG; Lindblom A; Macrae F; Blanco I; Sijmons R; Jeffries J; Vasen H; Burn J; Nakken S; Hovig E; Rodland EA; Tharmaratnam K; Cappel WHDVTN; Hill J; Wijnen J; Green K; Lalloo F; Sunde L; Mints M; Bertario L; Pineda M; Navarro M; Morak M; Renkonen-Sinisalo L; Frayling IM; Plazzer J-P; Pylvanainen K; Sampson JR; Capella G; Mecklin J-P; Moslein G
• Article: BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY. 2017;30(1-2):77-83

  Clonal B-cell lymphocytosis of marginal zone origin.

  Xochelli A; Oscier D; Stamatopoulos K
• Article: CIRCULATION RESEARCH. 2017;120(4):633-644

  MicroRNA-210 Enhances Fibrous Cap Stability in Advanced Atherosclerotic Lesions

  Eken SM; Jin H; Chernogubova E; Li Y; Simon N; Sun C; Korzunowicz G; Busch A; Backlund A; Osterholm C; Razuvaev A; Renne T; Eckstein HH; Pelisek J; Eriksson P; Diez MG; Matic LP; Schellinger IN; Raaz U; Leeper NJ; Hansson GK; Paulsson-Berne G; Hedin U; Maegdefessel L
• Article: ANTICANCER RESEARCH. 2017;37(2):665-673

  Validation of Human Papillomavirus as a Favourable Prognostic Marker and Analysis of CD8⁺ Tumour-infiltrating Lymphocytes and Other Biomarkers in Cancer of Unknown Primary in the Head and Neck Region

  Sivars L; Landin D; Grun N; Vlastos A; Marklund L; Nordemar S; Ramqvist T; Munck-Wikland E; Nasman A; Dalianis T
• Article: NATURE COMMUNICATIONS. 2017;8:14175

  Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

  Law PJ; Berndt SI; Speedy HE; Camp NJ; Sava GP; Skibola CF; Holroyd A; Joseph V; Sunter NJ; Nieters A; Bea S; Monnereau A; Martin-Garcia D; Goldin LR; Clot G; Teras LR; Quintela I; Birmann BM; Jayne S; Cozen W; Majid A; Smedby KE; Lan Q; Dearden C; Brooks-Wilson AR; Hall AG; Purdue MP; Mainou-Fowler T; Vajdic CM; Jackson GH; Cocco P; Marr H; Zhang Y; Zheng T; Giles GG; Lawrence C; Call TG; Liebow M; Melbye M; Glimelius B; Mansouri L; Glenn M; Curtin K; Diver WR; Link BK; Conde L; Bracci PM; Holly EA; Jackson RD; Tinker LF; Benavente Y; Boffetta P; Brennan P; Maynadie M; McKay J; Albanes D; Weinstein S; Wang Z; Caporaso NE; Morton LM; Severson RK; Riboli E; Vineis P; Vermeulen RCH; Southey MC; Milne RL; Clavel J; Topka S; Spinelli JJ; Kraft P; Ennas MG; Summerfield G; Ferri GM; Harris RJ; Miligi L; Pettitt AR; North KE; Allsup DJ; Fraumeni JFJ; Bailey JR; Offit K; Pratt G; Hjalgrim H; Pepper C; Chanock SJ; Fegan C; Rosenquist R; de Sanjose S; Carracedo A; Dyer MJS; Catovsky D; Campo E; Cerhan JR; Allan JM; Rothman N; Houlston R; Slager SL
• Article: HUMAN MUTATION. 2017;38(2):180-192

  Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

  Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
• Review: LEUKEMIA. 2017;31(2):282-291

  Antigen receptor stereotypy in chronic lymphocytic leukemia

  Stamatopoulos K; Agathangelidis A; Rosenquist R; Ghia P
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(2):535-544

  Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study

  Valimaki V-V; Makitie O; Pereira R; Laine C; Wesseling-Perry K; Maatta J; Kirjavainen M; Viljakainen H; Valimaki MJ
• Other: SURGICAL NEUROLOGY INTERNATIONAL. 2017;8:174

  Salvage gamma knife radiosurgery in the management of dysembryoplastic neuroepithelial tumors: Long-term outcome in a single-institution case series.

  Sinclair G; Martin H; Shamikh A; Samadi A; Cooray G; Bartek J; Al-Saffar Y; Svensson M; Dodoo E
• Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017;139(1):375-378

  High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

  Kostjukovits S; Klemetti P; Fohr A; Kajosaari M; Valta H; Taskinen M; Toiviainen-Salo S; Makitie O
• Article: ORAL DISEASES. 2017;23(1):42-49

  Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

  Malmgren B; Andersson K; Lindahl K; Kindmark A; Grigelioniene G; Zachariadis V; Dahllof G; Astrom E
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2017;161(1):117-134

  Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

  Hamdi Y; Soucy P; Kuchenbaeker KB; Pastinen T; Droit A; Lemacon A; Adlard J; Aittomaki K; Andrulis IL; Arason A; Arnold N; Arun BK; Azzollini J; Bane A; Barjhoux L; Barrowdale D; Benitez J; Berthet P; Blok MJ; Bobolis K; Bonadona V; Bonanni B; Bradbury AR; Brewer C; Buecher B; Buys SS; Caligo MA; Chiquette J; Chung WK; Claes KBM; Daly MB; Damiola F; Davidson R; De la Hoya M; De Leeneer K; Diez O; Ding YC; Dolcetti R; Domchek SM; Dorfling CM; Eccles D; Eeles R; Einbeigi Z; Ejlertsen B; Engel C; Evans DG; Feliubadalo L; Foretova L; Fostira F; Foulkes WD; Fountzilas G; Friedman E; Frost D; Ganschow P; Ganz PA; Garber J; Gayther SA; Gerdes A-M; Glendon G; Godwin AK; Goldgar DE; Greene MH; Gronwald J; Hahnen E; Hamann U; Hansen TVO; Hart S; Hays JL; Hogervorst FBL; Hulick PJ; Imyanitov EN; Isaacs C; Izatt L; Jakubowska A; James P; Janavicius R; Jensen UB; John EM; Joseph V; Just W; Kaczmarek K; Karlan BY; Kets CM; Kirk J; Kriege M; Laitman Y; Laurent M; Lazaro C; Leslie G; Lester J; Lesueur F; Liljegren A; Loman N; Loud JT; Manoukian S; Mariani M; Mazoyer S; McGuffog L; Meijers-Heijboer HEJ; Meindl A; Miller A; Montagna M; Mulligan AM; Nathanson KL; Neuhausen SL; Nevanlinna H; Nussbaum RL; Olah E; Olopade OI; Ong K-R; Oosterwijk JC; Osorio A; Papi L; Park SK; Pedersen IS; Peissel B; Segura PP; Peterlongo P; Phelan CM; Radice P; Rantala J; Rappaport-Fuerhauser C; Rennert G; Richardson A; Robson M; Rodriguez GC; Rookus MA; Schmutzler RK; Sevenet N; Shah PD; Singer CF; Slavin TP; Snape K; Sokolowska J; Sonderstrup IMH; Southey M; Spurdle AB; Stadler Z; Stoppa-Lyonnet D; Sukiennicki G; Sutter C; Tan Y; Tea M-K; Teixeira MR; Teule A; Teo S-H; Terry MB; Thomassen M; Tihomirova L; Tischkowitz M; Tognazzo S; Toland AE; Tung N; van den Ouweland AMW; van der Luijt RB; van Engelen K; van Rensburg EJ; Varon-Mateeva R; Wappenschmidt B; Wijnen JT; Rebbeck T; Chenevix-Trench G; Offit K; Couch FJ; Nord S; Easton DF; Antoniou AC; Simard J
• Article: EUROPEAN HEART JOURNAL. 2017;38(1):27-34

  A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

  Gudbjartsson DF; Holm H; Sulem P; Masson G; Oddsson A; Magnusson OT; Saemundsdottir J; Helgadottir HT; Helgason H; Johannsdottir H; Gretarsdottir S; Gudjonsson SA; Njolstad I; Lochen M-L; Baum L; Ma RCW; Sigfusson G; Kong A; Thorgeirsson G; Sverrisson JT; Thorsteinsdottir U; Stefansson K; Arnar DO
• Article: BONE. 2017;94:29-33

  Timing of dental development in osteogenesis imperfecta patients with and without bisphosphonate treatment

  Vuorimies I; Arponen H; Valta H; Tiesalo O; Ekholm M; Ranta H; Evalahti M; Makitie O; Waltimo-Siren J
• Article: PLOS ONE. 2017;12(10):e0186325

  Structural prediction of two novel human atypical SLC transporters, MFSD4A and MFSD9, and their neuroanatomical distribution in mice.

  Perland E; Hellsten SV; Schweizer N; Arapi V; Rezayee F; Bushra M; Fredriksson R
• Published conference paper: CELL BIOLOGY AND TRANSLATIONAL MEDICINE, VOL 14: STEM CELLS IN LINEAGE SPECIFIC DIFFERENTIATION AND DISEASE. 2017;988:127-138

  Chronic Lymphocytic Leukemia Patient Clustering Based on Somatic Hypermutation (SHM) Analysis.

  Polychronidou E; Xochelli A; Moschonas P; Papadopoulos S; Hatzidimitriou A; Vlamos P; Stamatopoulos K; Tzovaras D
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2017;88(3-4):244-250

  A History of Cow's Milk Allergy Is Associated with Lower Vitamin D Status in Schoolchildren

  Rosendahl J; Fogelholm M; Pelkonen A; Makela MJ; Makitie O; Erkkola M
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2017;88(2):147-154

  No Severe Hypercalcemia with Daily Vitamin D₃ Supplementation of up to 30 μg during the First Year of Life

  Valkama S; Holmlund-Suila E; Enlund-Cerullo M; Rosendahl J; Hauta-alus H; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O
• Journal article: PEDIATRIC RHEUMATOLOGY. 2017;15(Suppl 1)

  Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two : Genoa, Italy. 28 September – 01 October 2016

  Lomakina O; Alekseeva E; Valieva S; Bzarova T; Nikishina I; Zholobova E; Rodionovskaya S; Kaleda M; Nakagishi Y; Shimizu M; Mizuta M; Yachie A; Sugita Y; Okamoto N; Shabana K; Murata T; Tamai H; Smith EM; Yin P; Jorgensen AL; Beresford MW; Smith EM; Eleuteri A; Goilav B; Lewandowski L; Phuti A; Wahezi D; Rubinstein T; Jones C; Newland P; Marks S; Corkhill R; Ekdawy D; Pilkington C; Tullus K; Putterman C; Scott C; Fisher AC; Beresford MW; Smith EM; Lewandowski L; Phuti A; Jorgensen A; Scott C; Beresford MW; Batu ED; Kosukcu C; Taskiran E; Akman S; Ozturk K; Sozeri B; Unsal E; Ekinci Z; Bilginer Y; Alikasifoglu M; Ozen S; Lythgoe H; Beresford MW; Brunner HI; Gulati G; Jones JT; Altaye M; Eaton J; Difrancesco M; Yeo JG; Leong J; Bathi LDOT; Arkachaisri T; Albani S; Abdelrahman N; Beresford MW; Leone V; Groot N; Shaikhani D; Bultink IEM; Bijl M; Dolhain RJEM; Teng YKO; Zirkzee E; de Leeuw K; Fritsch-Stork R; Kamphuis SSM; Wright RD; Smith EM; Beresford MW; Abdawani R; Al Shaqshi L; Al Zakwani I; Gormezano NW; Kern D; Pereira OL; Esteves GCC; Sallum AM; Aikawa NE; Pereira RM; Silva CA; Bonfa E; Beckmann J; Bartholomä N; Venhoff N; Henneke P; Salzer U; Janda A; Boteanu AL; Corral SG; Giraldo AS; Gámir MG; Mendoza AZ; Adrovic A; Dedeoglu R; Sahin S; Barut K; Koka A; Oztunc F; Kasapcopur O; Rodriguez-Lozano AL; Rivas-Larrauri F; de la Puente SG; Alves AGF; Giacomin MFDA; Farhat J; Braga ALF; Sallum AME; Campos LMDA; Pereira LAA; Lichtenfels AJDFC; Silva CA; Farhat SCL; Acar B; Ozcakar ZB; Çakar N; Uncu N; Gür G; Özdel S; Yalçınkaya F; Scott C; Brice N; Nourse P; Lewandowski L; Arango C; Mosquera AC; Malagon C; Sakamoto AP; Silva CA; Silva MFCD; Lopes AS; Russo GCS; Sallum AEM; Kozu K; Bonfá E; Saad-Magalhães C; Pereira RMR; Len CA; Terreri MT; Suri D; Didel S; Rawat A; Singh S; Maritsi D; Onoufriou M; Vougiouka O; Tsolia M; Bosak EP; Vidović M; Lamot M; Lamot L; Harjaček M; Van Nieuwenhove E; Liston A; Wouters C; Tahghighi F; Ziaee V; Raeeskarami S-R; Aguiar F; Pereira S; Rodrigues M; Moura C; Rocha G; Guimarães H; Brito I; Aguiar F; Fonseca R; Rodrigues M; Brito I; Horneff G; Klein A; Minden K; Huppertz H-I; Weller-Heinemann F; Kuemmerle-Deschner J; Haas J-P; Hospach A; Menendez-Castro R; Huegle B; Haas J-P; Swart J; Giancane G; Bovis F; Castagnola E; Groll A; Horneff G; Huppertz H-I; Lovell DJ; Wolfs T; Hofer M; Alekseeva E; Panaviene V; Nielsen S; Anton J; Uettwiller F; Stanevicha V; Trachana M; Marafon DP; Ailioaie C; Tsitsami E; Kamphuis S; Herlin T; Doležalová P; Susic G; Flatø B; Sztajnbok F; Pistorio A; Martini A; Wulffraat N; Ruperto N; Gattorno M; Brucato A; Finetti M; Lazaros G; Maestroni S; Carraro M; Cumetti D; Carobbio A; Lorini M; Rimini A; Marcolongo R; Valenti A; Erre GL; Belli R; Gaita F; Sormani MP; Ruperto N; Imazio M; Martini A; Abinun M; Smith N; Rapley T; McErlane F; Kearsley-Fleet L; Hyrich KL; Foster H; Ruperto N; Lovell DJ; Tzaribachev N; Zeft A; Cimaz R; Stanevicha V; Horneff G; Bohnsack J; Griffin T; Carrasco R; Trachana M; Dare J; Foeldvari I; Vehe R; Bovis F; Simon T; Martini A; Brunner H; Verazza S; Davì S; Consolaro A; Insalaco A; Gerloni V; Cimaz R; Zulian F; Pastore S; Corona F; Conti G; Barone P; Cattalini M; Cortis E; Breda L; Olivieri AN; Civino A; Podda R; Rigante D; La Torre F; D’Angelo G; Jorini M; Gallizzi R; Maggio MC; Consolini R; De Fanti A; Alpigiani MG; Martini A; Ravelli A; Sozeri B; Kısaarslan AP; Gunduz Z; Dusunsel R; Dursun I; Poyrazoglu H; Kuchinskaya E; Abduragimova F; Kostik M; Sundberg E; Omarsdottir S; Klevenvall L; Erlandsson-Harris H; Basbozkurt G; Erdemli O; Simsek D; Yazici F; Karsioglu Y; Tezcaner A; Keskin D; Ozkan H; Acikel C; Ozen S; Demirkaya E; Orbán I; Sevcic K; Brodszky V; Kiss E; Tekko IA; Rooney M; McElnay J; Taggart C; McCarthy H; Donnelly RF; Abinun M; Slatter M; Nademi Z; Friswell M; Foster H; Jandial S; McErlane F; Flood T; Hambleton S; Gennery A; Cant A; Finetti M; Bovis F; Swart J; Doležalová P; Tsitsami E; Trachana M; Demirkaya E; Duong P-N; Koné-Paut I; Vougiouka O; Marafon DP; Cimaz R; Filocamo G; Gamir ML; Stanevicha V; Sanner H; Carenini L; Wulffraat N; Martini A; Ruperto N; Topdemir M; Basbozkurt G; Karslioglu Y; Ozkan H; Acikel C; Demirkaya E; Gok F; Zholobova E; Tsurikova N; Ligostaeva E; Ramchurn NR; Friswell M; Kostareva O; Nikishina I; Arsenyeva S; Rodionovskaya S; Kaleda M; Alexeev D; Dursun ID; Sozeri B; Kısaarslan AP; Dusunsel R; Poyrazoglu H; Poyrazoglu H; Murias S; Barral E; Alcobendas R; Enriquez E; Remesal A; de Inocencio J; Castro TM; Lotufo SA; Freye T; Carlomagno R; Zumbrunn T; Bonhoeffer J; Schneider EC; Kaiser D; Hofer M; Hentgen V; Woerner A; Schwarz T; Klotsche J; Niewerth M; Horneff G; Haas J-P; Hospach A; Huppertz H-I; Ganser G; Minden K; Jeyaratnam J; ter Haar N; Kasapcopur O; Rigante D; Dedeoglu F; Baris E; Vastert S; Wulffraat N; Frenkel J; Hausmann JS; Lomax KG; Shapiro A; Durrant KL; Brogan PA; Hofer M; Kuemmerle-Deschner JB; Lauwerys B; Speziale A; Leon K; Wei X; Laxer RM; Signa S; Rusmini M; Campione E; Chiesa S; Grossi A; Omenetti A; Caorsi R; Viglizzo G; Martini A; Ceccherini I; Gattorno M; Federici S; Frenkel J; Ozen S; Lachmann H; Finetti M; Martini A; Ruperto N; Gattorno M; Federici S; Vanoni F; Ozen S; Hofer M; Frenkel J; Lachmann H; Martini A; Ruperto N; Gattorno M; Gomes SM; Omoyinmi E; Arostegui JI; Gonzalez-Roca E; Eleftheriou D; Klein N; Brogan P; Volpi S; Santori E; Picco P; Pastorino C; Caorsi R; Rice G; Tesser A; Martini A; Crow Y; Candotti F; Gattorno M; Barut K; Sahin S; Adrovic A; Sinoplu AB; Yucel G; Pamuk G; Kasapcopur O; Damian LO; Lazea C; Sparchez M; Vele P; Muntean L; Albu A; Rednic S; Lazar C; Mendonça LO; Pontillo A; Kalil J; Castro FM; Barros MT; Pardeo M; Messia V; De Benedetti F; Insalaco A; Malighetti G; Gorio C; Ricci F; Parissenti I; Montesano P; Bonafini B; Medeghini V; Cattalini M; Giordano L; Zani G; Ferraro R; Vairo D; Giliani S; Cattalini M; Maggio MC; Luppino G; Corsello G; Fernandez MIG; Montesinos BL; Vidal AR; Gorospe JIA; Penades IC; Rafiq NK; Wynne K; Hussain K; Brogan PA; Ang E; Ng N; Kacar A; Gucenmez OA; Makay B; Unsal SE; Sahin Y; Barut K; Kutlu T; Cullu-Cokugras F; Sahin S; Adrovic A; Ayyildiz-Civan H; Kasapcopur O; Erkan T; Abdawani R; Al Zuhbi S; Abdalla E; Russo RA; Katsicas MM; Caorsi R; Minoia F; Viglizzo G; Grossi A; Chiesa S; Picco P; Ravelli A; Gattorno M; Bhattad S; Rawat A; Gupta A; Suri D; Pandiarajan V; Nada R; Tiewsoh K; Hawkins P; Rowczenio D; Singh S; Fingerhutova S; Franova J; Prochazkova L; Hlavackova E; Dolezalova P; Evrengül H; Yüksel S; Doğan M; Gürses D; Evrengül H; De Pauli S; Pastore S; Bianco AM; Severini GM; Taddio A; Tommasini A; Salugina SO; Fedorov E; Kamenets E; Zaharova E; Kaleda M; Salugina SO; Fedorov E; Kamenets E; Zaharova E; Kaleda M; Sleptsova T; Alexeeva E; Savostyanov K; Pushkov A; Bzarova T; Valieva S; Denisova R; Isayeva K; Chistyakova E; Lomakina O; Soloshenko M; Kaschenko E; Kaneko U; Imai C; Saitoh A; Teixeira VA; Ramos FO; Costa M; Aviel YB; Fahoum S; Brik R; Özçakar ZB; Çakar N; Uncu N; Celikel BA; Yalcinkaya F; 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• Article: CLINICAL CANCER RESEARCH. 2016;22(24):6217-6227

  Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia

  Pandzic T; Larsson J; He L; Kundu S; Ban K; Akhtar-Ali M; Hellstrom AR; Schuh A; Clifford R; Blakemore SJ; Strefford JC; Baumann T; Lopez-Guillermo A; Campo E; Ljungstrom V; Mansouri L; Rosenquist R; Sjoblom T; Hellstrom M
• Article: BLOOD. 2016;128(23):2666-2670

  Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma

  Mansouri L; Noerenberg D; Young E; Mylonas E; Abdulla M; Frick M; Asmar F; Ljungstroem V; Schneider M; Yoshida K; Skaftason A; Pandzic T; Gonzalez B; Tasidou A; Waldhueter N; Rivas-Delgado A; Angelopoulou M; Ziepert M; Arends CM; Couronne L; Lenze D; Baldus CD; Bastard C; Okosun J; Fitzgibbon J; Doerken B; Drexler HG; Roos-Weil D; Schmitt CA; Munch-Petersen HD; Zenz T; Hansmann M-L; Strefford JC; Enblad G; Bernard OA; Ralfkiaer E; Erlanson M; Korkolopoulou P; Hultdin M; Papadaki T; Gronbaek K; Lopez-Guillermo A; Ogawa S; Kuppers R; Stamatopoulos K; Stavroyianni N; Kanellis G; Rosenwald A; Campo E; Amini R-M; Ott G; Vassilakopoulos TP; Hummel M; Rosenquist R; Damm F
• Article: ONCOTARGET. 2016;7(49):80916-80924

  Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations.

  Blanco G; Puiggros A; Baliakas P; Athanasiadou A; García-Malo M; Collado R; Xochelli A; Rodríguez-Rivera M; Ortega M; Calasanz MJ; Luño E; Vargas M; Grau J; Martínez-Laperche C; Valiente A; Cervera J; Anagnostopoulos A; Gimeno E; Abella E; Stalika E; Hernández-Rivas JM; Ortuño FJ; Robles D; Ferrer A; Ivars D; González M; Bosch F; Abrisqueta P; Stamatopoulos K; Espinet B
• Article: ONCOTARGET. 2016;7(49):80140-80163

  Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

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• Article: MOLECULAR AND CLINICAL ONCOLOGY. 2016;5(6):671-674

  Human papillomavirus is a favourable prognostic factor in cancer of unknown primary in the head and neck region and in hypopharyngeal cancer (Review)

  Sivars L; Bersani C; Grun N; Ramqvist T; Munck-Wikland E; Von Buchwald C; Dalianis T
• Article: JOURNAL OF MEDICAL GENETICS. 2016;53(12):800-811

  PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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• Article: GENOME BIOLOGY. 2016;17(1):247

  Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease

  Meddens CA; Harakalova M; van den Dungen NAM; Asl HF; Hijma HJ; Cuppen EPJG; Bjorkegren JLM; Asselbergs FW; Nieuwenhuis EES; Mokry M
• Article: NUCLEIC ACIDS RESEARCH. 2016;44(20):9638-9649

  Inter-sigmulon communication through topological promoter coupling

  Santos TDP; Shingler V
• Article: ONCOTARGET. 2016;7(46):74686-74700

  Selenite promotes all-trans retinoic acid-induced maturation of acute promyelocytic leukemia cells

  Misra S; Selvam AK; Wallenberg M; Ambati A; Matolcsy A; Magalhaes I; Lauter G; Bjornstedt M
• Editorial: CANCER CELL. 2016;30(5):665-667

  Unraveling the DNA Methylome in Mantle Cell Lymphoma: New Insights into the Cellular Origin

  Mansouri L; Rosenquist R
• Article: ONCOTARGET. 2016;7(45):72431-72442

  PROX1 is a novel pathway-specific prognostic biomarker for high-grade astrocytomas; results from independent glioblastoma cohorts stratified by age and IDH mutation status

  Roodakker KR; Elsir T; Edqvist P-HD; Hagerstrand D; Carison J; Lysiak M; Henriksson R; Ponten F; Rosell J; Soderkvist P; Stupp R; Tchougounova E; Nister M; Malmstrom A; Smits A
• Review: HORMONE AND METABOLIC RESEARCH. 2016;48(11):745-754

  Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

  Taylan F; Makitie O
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2016;25(11):1503-1510

  Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist: Hip Ratio, Is Causal for Endometrial Cancer

  Painter JN; O'Mara TA; Marquart L; Webb PM; Attia J; Medland SE; Cheng T; Dennis J; Holliday EG; McEvoy M; Scott RJ; Ahmed S; Healey CS; Shah M; Gorman M; Martin L; Hodgson SV; Beckmann MW; Ekici AB; Fasching PA; Hein A; Ruebner M; Czene K; Darabi H; Hall P; Li J; Doerk T; Duerst M; Hillemanns P; Runnebaum IB; Amant F; Annibali D; Depreeuw J; Lambrechts D; Neven P; Cunningham JM; Dowdy SC; Goode EL; Fridley BL; Winham SJ; Njolstad TS; Salvesen HB; Trovik J; Werner HMJ; Ashton KA; Otton G; Proietto A; Mints M; Tham E; Bolla MK; Michailidou K; Wang Q; Tyrer JP; Hopper JL; Peto J; Swerdlow AJ; Burwinkel B; Brenner H; Meindl A; Brauch H; Lindblom A; Chang-Claude J; Couch FJ; Giles G; Kristensen VN; Cox A; Pharoah PDP; Tomlinson I; Dunning AM; Easton DF; Thompson DJ; Spurdle AB
• Article: SKELETAL RADIOLOGY. 2016;45(11):1557-1560

  Autosomal recessive brachyolmia: early radiological findings

  Handa A; Tham E; Wang Z; Horemuzova E; Grigelioniene G
• Article: ONCOLOGY REPORTS. 2016;36(5):2823-2835

  Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

  Lagerstedt-Robinson K; Rohlin A; Aravidis C; Melin B; Nordling M; Stenmark-Askmalm M; Lindblom A; Nilbert MEF
• Article: LEUKEMIA. 2016;30(11):2179-2186

  Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia

  Parker H; Rose-Zerilli MJJ; Larrayoz M; Clifford R; Edelmann J; Blakemore S; Gibson J; Wang J; Ljungstrom V; Wojdacz TK; Chaplin T; Roghanian A; Davis Z; Parker A; Tausch E; Ntoufa S; Ramos S; Robbe P; Alsolami R; Steele AJ; Packham G; Rodriguez-Vicente AE; Brown L; McNicholl F; Forconi F; Pettitt A; Hillmen P; Dyer M; Cragg MS; Chelala C; Oakes CC; Rosenquist R; Stamatopoulos K; Stilgenbauer S; Knight S; Schuh A; Oscier DG; Strefford JC
• Article: HEPATOLOGY. 2016;64(5):1743-1756

  Massive rearrangements of cellular MicroRNA signatures are key drivers of hepatocyte dedifferentiation

  Lauschke VM; Vorrink SU; Moro SML; Rezayee F; Nordling A; Hendriks DFG; Bell CC; Sison-Young R; Park BK; Goldring CE; Ellis E; Johansson I; Mkrtchian S; Andersson TB; Ingelman-Sundberg M
• Article: NATURE COMMUNICATIONS. 2016;7:13182

  Massive and parallel expression profiling using microarrayed single-cell sequencing

  Vickovic S; Stahl PL; Salmen F; Giatrellis S; Westholm JO; Mollbrink A; Navarro JF; Custodio J; Bienko M; Sutton L-A; Rosenquist R; Frisen J; Lundeberg J
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(4):903-911

  Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

  Ghoussaini M; French JD; Michailidou K; Nord S; Beesley J; Canisus S; Hillman KM; Kaufmann S; Sivakumaran H; Marjaneh MM; Lee JS; Dennis J; Bolla MK; Wang Q; Dicks E; Milne RL; Hopper JL; Southey MC; Schmidt MK; Broeks A; Muir K; Lophatananon A; Fasching PA; Beckmann MW; Fletcher O; Johnson N; Sawyer EJ; Tomlinson I; Burwinkel B; Marme F; Guenel P; Truong T; Bojesen SE; Flyger H; Benitez J; Gonzalez-Neira A; Alonso R; Pita G; Neuhausen SL; Anton-Culver H; Brenner H; Arndt V; Meindl A; Schmutzler RK; Brauch H; Hamann U; Tessier DC; Vincent D; Nevanlinna H; Khan S; Matsuo K; Ito H; Dork T; Bogdanova NV; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Wu AH; Van den Berg D; Lambrechts D; Floris G; Chang-Claude J; Rudolph A; Radice P; Barile M; Couch FJ; Hallberg E; Giles GG; Haiman CA; Le Marchand L; Goldberg MS; Teo SH; Yip CH; Borresen-Dale A-L; Zheng W; Cai Q; Winqvist R; Pylkas K; Andrulis IL; Devilee P; Tollenaar RAEM; Garcia-Closas M; Figueroa J; Hall P; Czene K; Brand JS; Darabi H; Eriksson M; Hooning MJ; Koppert LB; Li J; Shu X-O; Zheng Y; Cox A; Cross SS; Shah M; Rhenius V; Choi J-Y; Kang D; Hartman M; Chia KS; Kabisch M; Torres D; Luccarini C; Conroy DM; Jakubowska A; Lubinski J; Sangrajrang S; Brennan P; Olswold C; Slager S; Shen C-Y; Hou M-F; Swerdlow A; Schoemaker MJ; Simard J; Pharoah PDP; Kristensen V; Chenevix-Trench G; Easton DF; Dunning AM; Edwards SL
• Article: BREAST CANCER RESEARCH. 2016;18(1):98

  Patient survival and tumor characteristics associated with CHEK2:p.I157T-findings from the Breast Cancer Association Consortium

  Muranen TA; Blomqvist C; Doerk T; Jakubowska A; Heikkila P; Fagerholm R; Greco D; Aittomaki K; Bojesen SE; Shah M; Dunning AM; Rhenius V; Hall P; Czene K; Brand JS; Darabi H; Chang-Claude J; Rudolph A; Nordestgaard BG; Couch FJ; Hart SN; Figueroa J; Garcia-Closas M; Fasching PA; Beckmann MW; Li J; Liu J; Andrulis IL; Winqvist R; Pylkas K; Mannermaa A; Kataja V; Lindblom A; Margolin S; Lubinski J; Dubrowinskaja N; Bolla MK; Dennis J; Michailidou K; Wang Q; Easton DF; Pharoah PDP; Schmidt MK; Nevanlinna H
• Article: CEREBELLUM. 2016;15(5):632-635

  POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

  Paucar M; Engvall M; Gordon L; Tham E; Synofzik M; Svenningsson P
• Article: FASEB JOURNAL. 2016;30(10):3578-3587

  Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

  Tammimies K; Bieder A; Lauter G; Sugiaman-Trapman D; Torchet R; Hokkanen M-E; Burghoorn J; Castren E; Kere J; Tapia-Paez I; Swoboda P
• Article: DIABETES. 2016;65(10):2888-2899

  Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness

  Strawbridge RJ; Hilding A; Silveira A; Osterholm C; Sennblad B; McLeod O; Tsikrika P; Foroogh F; Tremoli E; Baldassarre D; Veglia F; Rauramaa R; Smit AJ; Giral P; Kurl S; Mannarino E; Grossi E; Syvanen A-C; Humphries SE; de Faire U; Ostenson C-G; Maegdefessel L; Hamsten A; Backlund A
• Article: INTERNATIONAL JOURNAL OF CANCER. 2016;139(6):1303-1317

  Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

  Shi J; Zhang Y; Zheng W; Michailidou K; Ghoussaini M; Bolla MK; Wang Q; Dennis J; Lush M; Milne RL; Shu X-O; Beesley J; Kar S; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Zhao Z; Guo X; Benitez J; Beeghly-Fadiel A; Blot W; Bogdanova NV; Bojesen SE; Brauch H; Brenner H; Brinton L; Broeks A; Bruening T; Burwinkel B; Cai H; Canisius S; Chang-Claude J; Choi J-Y; Couch FJ; Cox A; Cross SS; Czene K; Darabi H; Devilee P; Droit A; Dork T; Fasching PA; Fletcher O; Flyger H; Fostira F; Gaborieau V; Garcia-Closas M; Giles GG; Grip M; Guenel P; Haiman CA; Hamann U; Hartman M; Miao H; Hollestelle A; Hopper JL; Hsiung C-N; Investigators K; Ito H; Jakubowska A; Johnson N; Torres D; Kabisch M; Kang D; Khan S; Knight JA; Kosma V-M; Lambrechts D; Li J; Lindblom A; Lophatananon A; Lubinski J; Mannermaa A; Manoukian S; Le Marchand L; Margolin S; Marme F; Matsuo K; McLean C; Meindl A; Muir K; Neuhausen SL; Nevanlinna H; Nord S; Borresen-Dale A-L; Olson JE; Orr N; van den Ouweland AMW; Peterlongo P; Putti TC; Rudolph A; Sangrajrang S; Sawyer EJ; Schmidt MK; Schmutzler RK; Shen C-Y; Hou M-F; Shrubsole MJ; Southey MC; Swerdlow A; Teo SH; Thienpont B; Toland AE; Tollenaar RAEM; Tomlinson I; Truong T; Tseng C-C; Wen W; Winqvist R; Wu AH; Yip CH; Zamora PM; Zheng Y; Floris G; Cheng C-Y; Hooning MJ; Martens JWM; Seynaeve C; Kristensen VN; Hall P; Pharoah PDP; Simard J; Chenevix-Trench G; Dunning AM; Antoniou AC; Easton DF; Cai Q; Long J
• Article: NATURE COMMUNICATIONS. 2016;7:12675

  Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

  Lawrenson K; Kar S; McCue K; Kuchenbaeker K; Michailidou K; Tyrer J; Beesley J; Ramus SJ; Li Q; Delgado MK; Lee JM; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Arun BK; Arver B; Bandera EV; Barile M; Barkardottir RB; Barrowdale D; Beckmann MW; Benitez J; Berchuck A; Bisogna M; Bjorge L; Blomqvist C; Blot W; Bogdanova N; Bojesen A; Bojesen SE; Bolla MK; Bonanni B; Borresen-Dale A-L; Brauch H; Brennan P; Brenner H; Bruinsma F; Brunet J; Buhari SA; Burwinkel B; Butzow R; Buys SS; Cai Q; Caldes T; Campbell I; Canniotto R; Chang-Claude J; Chiquette J; Choi J-Y; Claes KBM; Cook LS; Cox A; Cramer DW; Cross SS; Cybulski C; Czene K; Daly MB; Damiola F; Dansonka-Mieszkowska A; Darabi H; Dennis J; Devilee P; Diez O; Doherty JA; Domchek SM; Dorfling CM; Doerk T; Dumont M; Ehrencrona H; Ejlertsen B; Ellis S; Engel C; Lee E; Evans DG; Fasching PA; Feliubadalo L; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Foretova L; Fostira F; Foulkes WD; Fridley BL; Friedman E; Frost D; Gambino G; Ganz PA; Garber J; Garcia-Closas M; Gentry-Maharaj A; Ghoussaini M; Giles GG; Glasspool R; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Goode EL; Goodman MT; Greene MH; Gronwald J; Guenel P; Haiman CA; Hall P; Hallberg E; Hamann U; Hansen TVO; Harrington PA; Hartman M; Hassan N; Healey S; Heitz F; Herzog J; Hogdall E; Hogdall CK; Hogervorst FBL; Hollestelle A; Hopper JL; Hulick PJ; Huzarski T; Imyanitov EN; Isaacs C; Ito H; Jakubowska A; Janavicius R; Jensen A; John EM; Johnson N; Kabisch M; Kang D; Kapuscinski M; Karlan BY; Khan S; Kiemeney LA; Kjaer SK; Knight JA; Konstantopoulou I; Kosma V-M; Kristensen V; Kupryjanczyk J; Kwong A; de la Hoya M; Laitman Y; Lambrechts D; Le N; De Leeneer K; Lester J; Levine DA; Li J; Lindblom A; Long J; Lophatananon A; Loud JT; Lu K; Lubinski J; Mannermaa A; Manoukian S; Le Marchand L; Margolin S; Marme F; Massuger LFAG; Matsuo K; Mazoyer S; McGuffog L; McLean C; McNeish I; Meindl A; Menon U; Mensenkamp AR; Milne RL; Montagna M; Moysich KB; Muir K; Mulligan AM; Nathanson KL; Ness RB; Neuhausen SL; Nevanlinna H; Nord S; Nussbaum RL; Odunsi K; Offit K; Olah E; Olopade OI; Olson JE; Olswold C; O'Malley D; Orlow I; Orr N; Osorio A; Park SK; Pearce CL; Pejovic T; Peterlongo P; Pfeiler G; Phelan CM; Poole EM; Pylkas K; Radice P; Rantala J; Rashid MU; Rennert G; Rhenius V; Rhiem K; Risch HA; Rodriguez G; Rossing MA; Rudolph A; Salvesen HB; Sangrajrang S; Sawyer EJ; Schildkraut JM; Schmidt MK; Schmutzler RK; Sellers TA; Seynaeve C; Shah M; Shen C-Y; Shu X-O; Sieh W; Singer CF; Sinilnikova OM; Slager S; Song H; Soucy P; Southey MC; Stenmark-Askmalm M; Stoppa-Lyonnet D; Sutter C; Swerdlow A; Tchatchou S; Teixeira MR; Teo SH; Terry KL; Terry MB; Thomassen M; Tibiletti MG; Tihomirova L; Tognazzo S; Toland AE; Tomlinson I; Torres D; Truong T; Tseng C-C; Tung N; Tworoger SS; Vachon C; van den Ouweland AMW; van Doorn HC; van Rensburg EJ; Van't Veer LJ; Vanderstichele A; Vergote I; Vijai J; Wang Q; Wang-Gohrke S; Weitzel JN; Wentzensen N; Whittemore AS; Wildiers H; Winqvist R; Wu AH; Yannoukakos D; Yoon S-Y; Yu J-C; Zheng W; Zheng Y; Khanna KK; Simard J; Monteiro AN; French JD; Couch FJ; Freedman ML; Easton DF; Dunning AM; Pharoah PD; Edwards SL; Chenevix-Trench G; Antoniou AC; Gayther SA
• Article: SCIENTIFIC REPORTS. 2016;6:32512

  Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

  Darabi H; Beesley J; Droit A; Kar S; Nord S; Marjaneh MM; Soucy P; Michailidou K; Ghoussaini M; Wahl HF; Bolla MK; Wang Q; Dennis J; Alonso MR; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Benitez J; Bogdanova NV; Bojesen SE; Brauch H; Brenner H; Broeks A; Bruening T; Burwinkel B; Chang-Claude J; Choi J-Y; Conroy DM; Couch FJ; Cox A; Cross SS; Czene K; Devilee P; Doerk T; Easton DF; Fasching PA; Figueroa J; Fletcher O; Flyger H; Galle E; Garcia-Closas M; Giles GG; Goldberg MS; Gonzalez-Neira A; Guenel P; Haiman CA; Hallberg E; Hamann U; Hartman M; Hollestelle A; Hopper JL; Ito H; Jakubowska A; Johnson N; Kang D; Khan S; Kosma V-M; Kriege M; Kristensen V; Lambrechts D; Le Marchand L; Lee SC; Lindblom A; Lophatananon A; Lubinski J; Mannermaa A; Manoukian S; Margolin S; Matsuo K; Mayes R; Mckay J; Meindl A; Milne RL; Muir K; Neuhausen SL; Nevanlinna H; Olswold C; Orr N; Peterlongo P; Pita G; Pylkaes K; Rudolph A; Sangrajrang S; Sawyer EJ; Schmidt MK; Schmutzler RK; Seynaeve C; Shah M; Shen C-Y; Shu X-O; Southey MC; Stram DO; Surowy H; Swerdlow A; Teo SH; Tessier DC; Tomlinson I; Torres D; Truong T; Vachon CM; Vincent D; Winqvist R; Wu AH; Wu P-E; Yip CH; Zheng W; Pharoah PDP; Hall P; Edwards SL; Simard J; French JD; Chenevix-Trench G; Dunning AM
• Article: CLINICAL ENDOCRINOLOGY. 2016;85(3):378-385

  Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention

  Holmlund-Suila E; Pekkinen M; Ivaska KK; Andersson S; Makitie O; Viljakainen H
• Article: LEUKEMIA & LYMPHOMA. 2016;57(9):2161-2170

  Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

  Ofverholm II; Anh NT; Olsson L; Zachariadis V; Heyman M; Rudd E; Lundberg ES; Nordenskjold M; Johansson B; Nordgren A; Barbany G
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(9):1734-1742

  Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

  Makitie RE; Haanpaa M; Valta H; Pekkinen M; Laine CM; Lehesjoki A-E; Schalin-Jantti C; Makitie O
• Review: HAEMATOLOGICA. 2016;101(9):1002-1009

  Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond

  Rosenquist R; Rosenwald A; Du M-Q; Gaidano G; Groenen P; Wotherspoon A; Ghia P; Gaulard P; Campo E; Stamatopoulos K
• Letter: HAEMATOLOGICA. 2016;101(9):e369-e373

  ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres

  Navrkalova V; Young E; Baliakas P; Radova L; Sutton L-A; Plevova K; Mansouri L; Ljungstrom V; Ntoufa S; Davis Z; Juliusson G; Smedby KE; Belessi C; Panagiotidis P; Touloumenidou T; Davi F; Langerak AW; Ghia P; Strefford JC; Oscier D; Mayer J; Stamatopoulos K; Pospisilova S; Rosenquist R; Trbusek M
• Article: CANCER DISCOVERY. 2016;6(9):1052-1067

  Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

  Kar SP; Beesley J; Al Olama AA; Michailidou K; Tyrer J; Kote-Jarai ZA; Lawrenson K; Lindstrom S; Ramus SJ; Thompson DJ; Kibel AS; Dansonka-Mieszkowska A; Michael A; Dieffenbach AK; Gentry-Maharaj A; Whittemore AS; Wolk A; Monteiro A; Peixoto A; Kierzek A; Cox A; Rudolph A; Gonzalez-Neira A; Wu AH; Lindblom A; Swerdlow A; Ziogas A; Ekici AB; Burwinkel B; Karlan BY; Nordestgaard BG; Blomqvist C; Phelan C; McLean C; Pearce CL; Vachon C; Cybulski C; Slavov C; Stegmaier C; Maier C; Ambrosone CB; Hogdall CK; Teerlink CC; Kang D; Tessier DC; Schaid DJ; Stram DO; Cramer DW; Neal DE; Eccles D; Flesch-Janys D; Edwards DRV; Wokozorczyk D; Levine DA; Yannoukakos D; Sawyer EJ; Bandera EV; Poole EM; Goode EL; Khusnutdinova E; Hogdall E; Song F; Bruinsma F; Heitz F; Modugno F; Hamdy FC; Wiklund F; Giles GG; Olsson H; Wildiers H; Ulmer H-U; Pandha H; Risch HA; Darabi H; Salvesen HB; Nevanlinna H; Gronberg H; Brenner H; Brauch H; Anton-Culver H; Song H; Lim H-Y; McNeish I; Campbell I; Vergote I; Gronwald J; Lubinski J; Stanford JL; Bentez J; Doherty JA; Permuth JB; Chang-Claude J; Donovan JL; Dennis J; Schildkraut JM; Schleutker J; Hopper JL; Kupryjanczyk J; Park JY; Figueroa J; Clements JA; Knight JA; Peto J; Cunningham JM; Pow-Sang J; Batra J; Czene K; Lu KH; Herkommer K; Khaw K-T; Matsuo K; Muir K; Offitt K; Chen K; Moysich KB; Aittomaki K; Odunsi K; Kiemeney LA; Massuger LFAG; Fitzgerald LM; Cook LS; Cannon-Albright L; Hooning MJ; Pike MC; Bolla MK; Luedeke M; Teixeira MR; Goodman MT; Schmidt MK; Riggan M; Aly M; Rossing MA; Beckmann MW; Moisse M; Sanderson M; Southey MC; Jones M; Lush M; Hildebrandt MAT; Hou M-F; Schoemaker MJ; Garcia-Closas M; Bogdanova N; Rahman N; Le ND; Orr N; Wentzensen N; Pashayan N; Peterlongo P; Guenel P; Brennan P; Paulo P; Webb PM; Broberg P; Fasching PA; Devilee P; Wang Q; Cai Q; Li Q; Kaneva R; Butzow R; Kopperud RK; Schmutzler RK; Stephenson RA; MacInnis RJ; Hoover RN; Winqvist R; Ness R; Milne RL; Travis RC; Benlloch S; Olson SH; McDonnell SK; Tworoger SS; Maia SA; Berndt S; Lee SC; Teo S-H; Thibodeau SN; Bojesen SE; Gapstur SM; Kjaer SK; Pejovic T; Tammela TLJ; Doerk T; Bruening T; Wahlfors T; Key TJ; Edwards TL; Menon U; Hamann U; Mitev V; Kosma V-M; Setiawan VW; Kristensen V; Arndt V; Vogel W; Zheng W; Sieh W; Blot WJ; Kluzniak W; Shu X-O; Gao Y-T; Schumacher F; Freedman ML; Berchuck A; Dunning AM; Simard J; Haiman CA; Spurdle A; Sellers TA; Hunter DJ; Henderson BE; Kraft P; Chanock SJ; Couch FJ; Hall P; Gayther SA; Easton DF; Chenevix-Trench G; Eeles R; Pharoah PDP; Lambrechts D
• Article: HUMAN MOLECULAR GENETICS. 2016;25(17):3863-3876

  An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

  Wyszynski A; Hong C-C; Lam K; Michailidou K; Lytle C; Yao S; Zhang Y; Bolla MK; Wang Q; Dennis J; Hopper JL; Southey MC; Schmidt MK; Broeks A; Muir K; Lophatananon A; Fasching PA; Beckmann MW; Peto J; dos-Santos-Silva I; Sawyer EJ; Tomlinson I; Burwinkel B; Marme F; Guenel P; Truong T; Bojesen SE; Nordestgaard BG; Gonzalez-Neira A; Benitez J; Neuhausen SL; Brenner H; Dieffenbach AK; Meindl A; Schmutzler RK; Brauch H; Nevanlinna H; Khan S; Matsuo K; Ito H; Doerk T; Bogdanova NV; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Wu AH; Van den Berg D; Lambrechts D; Wildiers H; Chang-Claude J; Rudolph A; Radice P; Peterlongo P; Couch FJ; Olson JE; Giles GG; Milne RL; Haiman CA; Henderson BE; Dumont M; Teo SH; Wong TY; Kristensen V; Zheng W; Long J; Winqvist R; Pylkas K; Andrulis IL; Knight JA; Devilee P; Seynaeve C; Garcia-Closas M; Figueroa J; Klevebring D; Czene K; Hooning MJ; van den Ouweland AMW; Darabi H; Shu X-O; Gao Y-T; Cox A; Blot W; Signorello LB; Shah M; Kang D; Choi J-Y; Hartman M; Miao H; Hamann U; Jakubowska A; Lubinski J; Sangrajrang S; McKay J; Toland AE; Yannoukakos D; Shen C-Y; Wu P-E; Swerdlow A; Orr N; Simard J; Pharoah PDP; Dunning AM; Chenevix-Trench G; Hall P; Bandera E; Amos C; Ambrosone C; Easton DF; Cole MD
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2016;175(3):211-218

  Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

  Tenhola S; Voutilainen R; Reyes M; Toiviainen-Salo S; Juppner H; Makitie O
• Article: PLOS ONE. 2016;11(8):e0160316

  Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

  Horne HN; Chung CC; Zhang H; Yu K; Prokunina-Olsson L; Michailidou K; Bolla MK; Wang Q; Dennis J; Hopper JL; Southey MC; Schmidt MK; Broeks A; Muir K; Lophatananon A; Fasching PA; Beckmann MW; Fletcher O; Johnson N; Sawyer EJ; Tomlinson I; Burwinkel B; Marme F; Guenel P; Truong T; Bojesen SE; Flyger H; Benitez J; Gonzalez-Neira A; Anton-Culver H; Neuhausen SL; Brenner H; Arndt V; Meindl A; Schmutzler RK; Brauch H; Hamann U; Nevanlinna H; Khan S; Matsuo K; Iwata H; Dork T; Bogdanova NV; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Chenevix-Trench G; Wu AH; den Berg DV; Smeets A; Zhao H; Chang-Claude J; Rudolph A; Radice P; Barile M; Couch FJ; Vachon C; Giles GG; Milne RL; Haiman CA; Le Marchand L; Goldberg MS; Teo SH; Taib NAM; Kristensen V; Borresen-Dale A-L; Zheng W; Shrubsole M; Winqvist R; Jukkola-Vuorinen A; Andrulis IL; Knight JA; Devilee P; Seynaeve C; Garcia-Closas M; Czene K; Darabi H; Hollestelle A; Martens JWM; Li J; Lu W; Shu X-O; Cox A; Cross SS; Blot W; Cai Q; Shah M; Luccarini C; Baynes C; Harrington P; Kang D; Choi J-Y; Hartman M; Chia KS; Kabisch M; Torres D; Jakubowska A; Lubinski J; Sangrajrang S; Brennan P; Slager S; Yannoukakos D; Shen C-Y; Hou M-F; Swerdlow A; Orr N; Simard J; Hall P; Pharoah PDP; Easton DF; Chanock SJ; Dunning AM; Figueroa JD
• Article: SCIENCE. 2016;353(6301):827-830

  Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

  Franzen O; Ermel R; Cohain A; Akers NK; Di Narzo A; Talukdar HA; Foroughi-Asl H; Giambartolomei C; Fullard JF; Sukhavasi K; Koks S; Gan L-M; Giannarelli C; Kovacic JC; Betsholtz C; Losic B; Michoel T; Hao K; Roussos P; Skogsberg J; Ruusalepp A; Schadt EE; Bjorkegren JLM
• Article: CLINICAL CANCER RESEARCH. 2016;22(16):4030-4038

  Leukemic Stem Cell Quantification in Newly Diagnosed Patients With Chronic Myeloid Leukemia Predicts Response to Nilotinib Therapy

  Thielen N; Richter J; Baldauf M; Barbany G; Fioretos T; Giles F; Gjertsen B-T; Hochhaus A; Schuurhuis GJ; Sopper S; Stenke L; Thunberg S; Wolf D; Ossenkoppele G; Porkka K; Janssen J; Mustjoki S
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2016;34(23):2750-2760

  Age- and Tumor Subtype Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

  Schmidt MK; Hogervorst F; van Hien R; Cornelissen S; Broeks A; Adank MA; Meijers H; Waisfisz Q; Hollestelle A; Schutte M; van den Ouweland A; Hooning M; Andrulis IL; Anton-Culver H; Antonenkova NN; Antoniou AC; Arndt V; Bermisheva M; Bogdanova NV; Bolla MK; Brauch H; Brenner H; Bruening T; Burwinkel B; Chang-Claude J; Chenevix-Trench G; Couch FJ; Cox A; Cross SS; Czene K; Dunning AM; Fasching PA; Figueroa J; Fletcher O; Flyger H; Galle E; Garcia-Closas M; Giles GG; Haeberle L; Hall P; Hillemanns P; Hopper JL; Jakubowska A; John EM; Jones M; Khusnutdinova E; Knight JA; Kosma V-M; Kristensen V; Lee A; Lindblom A; Lubinski J; Mannermaa A; Margolin S; Meindl A; Milne RL; Muranen TA; Newcomb PA; Offit K; Park-Simon T-W; Peto J; Pharoah PDP; Robson M; Rudolph A; Sawyer EJ; Schmutzler RK; Seynaeve C; Soens J; Southey MC; Spurdle AB; Surowy H; Swerdlow A; Tollenaar RAEM; Tomlinson I; Trentham-Dietz A; Vachon C; Wang Q; Whittemore AS; Ziogas A; van der Kolk L; Nevanlinna H; Doerk T; Bojesen S; Easton DF
• Review: SEMINARS IN CANCER BIOLOGY. 2016;39:40-48

  NF-κB activation in chronic lymphocytic leukemia: A point of convergence of external triggers and intrinsic lesions

  Mansouri L; Papakonstantinou N; Ntoufa S; Stamatopoulos K; Rosenquist R
• Article: ENDOCRINE. 2016;53(2):505-511

  Minimally invasive follicular thyroid carcinomas: prognostic factors

  Stenson G; Nilsson I-L; Mu N; Larsson C; Lundgren CI; Juhlin CC; Hoog A; Zedenius J
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(8):1577-1585

  Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

  Taylan F; Costantini A; Coles N; Pekkinen M; Heon E; Siklar Z; Berberoglu M; Kampe A; Kiykim E; Grigelioniene G; Tuysuz B; Makitie O
• Article: PLOS MEDICINE. 2016;13(8):e1002105

  Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

  Guo Y; Andersen SW; Shu X-O; Michailidou K; Bolla MK; Wang Q; Garcia-Closas M; Milne RL; Schmidt MK; Chang-Claude J; Dunning A; Bojesen SE; Ahsan H; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Beeghly-Fadiel A; Benitez J; Bogdanova NV; Bonanni B; Borresen-Dale A-L; Brand J; Brauch H; Brenner H; Bruening T; Burwinkel B; Casey G; Chenevix-Trench G; Couch FJ; Cox A; Cross SS; Czene K; Devilee P; Doerk T; Dumont M; Fasching PA; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Fostira F; Gammon M; Giles GG; Guenel P; Haiman CA; Hamann U; Hooning MJ; Hopper JL; Jakubowska A; Jasmine F; Jenkins M; John EM; Johnson N; Jones ME; Kabisch M; Kibriya M; Knight JA; Koppert LB; Kosma V-M; Kristensen V; Le Marchand L; Lee E; Li J; Lindblom A; Luben R; Lubinski J; Malone KE; Mannermaa A; Margolin S; Marme F; McLean C; Meijers-Heijboer H; Meindl A; Neuhausen SL; Nevanlinna H; Neven P; Olson JE; Perez JIA; Perkins B; Peterlongo P; Phillips K-A; Pylkas K; Rudolph A; Santella R; Sawyer EJ; Schmutzler RK; Seynaeve C; Shah M; Shrubsole MJ; Southey MC; Swerdlow AJ; Toland AE; Tomlinson I; Torres D; Truong T; Ursin G; Van Der Luijt RB; Verhoef S; Whittemore AS; Winqvist R; Zhao H; Zhao S; Hall P; Simard J; Kraft P; Pharoah P; Hunter D; Easton DF; Zheng W
• Editorial: SEMINARS IN CANCER BIOLOGY. 2016;39:1-2

  B-cell malignancies: All roads lead to NF-κB activation

  Rosenquist R; Stamatopoulos K
• Review: SEMINARS IN CANCER BIOLOGY. 2016;39:15-25

  Toll-like receptors signaling: A complex network for NF-κB activation in B-cell lymphoid malignancies.

  Ntoufa S; Vilia MG; Stamatopoulos K; Ghia P; Muzio M
• Article: HAEMATOLOGICA. 2016;101(8):959-967

  Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors

  Sutton L-A; Young E; Baliakas P; Hadzidimitriou A; Moysiadis T; Plevova K; Rossi D; Kminkova J; Stalika E; Pedersen LB; Malcikova J; Agathangelidis A; Davis Z; Mansouri L; Scarfo L; Boudjoghra M; Navarro A; Muggen AF; Yan X-J; Nguyen-Khac F; Larrayoz M; Panagiotidis P; Chiorazzi N; Niemann CU; Belessi C; Campo E; Strefford JC; Langerak AW; Oscier D; Gaidano G; Pospisilova S; Davi F; Ghia P; Stamatopoulos K; Rosenquist R
• Meeting abstract: CANCER RESEARCH. 2016;76:2385

  Understanding the dynamic interplay between genetically different cancer cell clones in glioblastoma

  Guo M; Heller S; Thorslund J; Orre L; Lehtio J; Nister M; Hagerstrand D
• Article: PEDIATRIC BLOOD & CANCER. 2016;63(7):1185-1192

  DNA Methylation Adds Prognostic Value to Minimal Residual Disease Status in Pediatric T-Cell Acute Lymphoblastic Leukemia

  Borssen M; Haider Z; Landfors M; Noren-Nystrom U; Schmiegelow K; Asberg AE; Kanerva J; Madsen HO; Marquart H; Heyman M; Hultdin M; Roos G; Forestier E; Degerman S
• Letter: HAEMATOLOGICA. 2016;101(7):e299-e302

  Additional trisomies amongst patients with chronic lymphocytic leukemia carrying trisomy 12: the accompanying chromosome makes a difference

  Baliakas P; Puiggros A; Xochelli A; Sutton L-A; Nguyen-Khac F; Gardiner A; Plevova K; Minga E; Hadzidimitriou A; Walewska R; McCarthy H; Ortega M; Collado R; Gonzalez T; Granada I; Luno E; Kotaskova J; Moysiadis T; Davis Z; Stavroyianni N; Anagnostopoulos A; Strefford JC; Pospisilova S; Davi F; Athanasiadou A; Rosenquist R; Oscier D; Espinet B; Stamatopoulos K
• Article: ONCOTARGET. 2016;7(26):39486-39496

  Heparanase expression upregulates platelet adhesion activity and thrombogenicity

  Cui H; Tan Y-X; Osterholm C; Zhang X; Hedin U; Vlodavsky I; Li J-P
• Article: SCIENTIFIC REPORTS. 2016;6:28253

  De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

  Buena-Atienza E; Ruether K; Baumann B; Bergholz R; Birch D; De Baere E; Dollfus H; Greally MT; Gustavsson P; Hamel CP; Heckenlively JR; Leroy BP; Plomp AS; Pott JWR; Rose K; Rosenberg T; Stark Z; Verheij JBGM; Weleber R; Zobor D; Weisschuh N; Kohl S; Wissinger B
• Article: BREAST CANCER RESEARCH. 2016;18(1):64

  Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

  Zeng C; Guo X; Long J; Kuchenbaecker KB; Droit A; Michailidou K; Ghoussaini M; Kar S; Freeman A; Hopper JL; Milne RL; Bolla MK; Wang Q; Dennis J; Agata S; Ahmed S; Aittomaki K; Andrulis IL; Anton-Culver H; Antonenkova NN; Arason A; Arndt V; Arun BK; Arver B; Bacot F; Barrowdale D; Baynes C; Beeghly-Fadiel A; Benitez J; Bermisheva M; Blomqvist C; Blot WJ; Bogdanova NV; Bojesen SE; Bonanni B; Borresen-Dale A-L; Brand JS; Brauch H; Brennan P; Brenner H; Broeks A; Bruening T; Burwinkel B; Buys SS; Cai Q; Caldes T; Campbell I; Carpenter J; Chang-Claude J; Choi J-Y; Claes KBM; Clarke C; Cox A; Cross SS; Czene K; Daly MB; de la Hoya M; De Leeneer K; Devilee P; Diez O; Domchek SM; Doody M; Dorfling CM; Doerk T; dos-Santos-Silva I; Dumont M; Dwek M; Dworniczak B; Egan K; Eilber U; Einbeigi Z; Ejlertsen B; Ellis S; Frost D; Lalloo F; Fasching PA; Figueroa J; Flyger H; Friedlander M; Friedman E; Gambino G; Gao Y-T; Garber J; Garcia-Closas M; Gehrig A; Damiola F; Lesueur F; Mazoyer S; Stoppa-Lyonnet D; Giles GG; Godwin AK; Goldgar DE; Gonzalez-Neira A; Greene MH; Guenel P; Haeberle L; Haiman CA; Hallberg E; Hamann U; Hansen TVO; Hart S; Hartikainen JM; Hartman M; Hassan N; Healey S; Hogervorst FBL; Verhoef S; Hendricks CB; Hillemanns P; Hollestelle A; Hulick PJ; Hunter DJ; Imyanitov EN; Isaacs C; Ito H; Jakubowska A; Janavicius R; Jaworska-Bieniek K; Jensen UB; John EM; Beauparlant CJ; Jones M; Kabisch M; Kang D; Karlan BY; Kauppila S; Kerin MJ; Khan S; Khusnutdinova E; Knight JA; Konstantopoulou I; Kraft P; Kwong A; Laitman Y; Lambrechts D; Lazaro C; Le Marchand L; Lee CN; Lee MH; Lester J; Li J; Liljegren A; Lindblom A; Lophatananon A; Lubinski J; Mai PL; Mannermaa A; Manoukian S; Margolin S; Marme F; Matsuo K; McGuffog L; Meindl A; Menegaux F; Montagna M; Muir K; Mulligan AM; Nathanson KL; Neuhausen SL; Nevanlinna H; Newcomb PA; Nord S; Nussbaum RL; Offit K; Olah E; Olopade OI; Olswold C; Osorio A; Papi L; Park-Simon T-W; Paulsson-Karlsson Y; Peeters S; Peissel B; Peterlongo P; Peto J; Pfeiler G; Phelan CM; Presneau N; Radice P; Rahman N; Ramus SJ; Rashid MU; Rennert G; Rhiem K; Rudolph A; Salani R; Sangrajrang S; Sawyer EJ; Schmidt MK; Schmutzler RK; Schoemaker MJ; Schuermann P; Seynaeve C; Shen C-Y; Shrubsole MJ; Shu X-O; Sigurdson A; Singer CF; Slager S; Soucy P; Southey M; Steinemann D; Swerdlow A; Szabo CI; Tchatchou S; Teixeira MR; Teo SH; Terry MB; Tessier DC; Teule A; Thomassen M; Tihomirova L; Tischkowitz M; Toland AE; Tung N; Turnbull C; van den Ouweland AMW; van Rensburg EJ; ven den Berg D; Vijai J; Wang-Gohrke S; Weitzel JN; Whittemore AS; Winqvist R; Wong TY; Wu AH; Yannoukakos D; Yu J-C; Pharoah PDP; Hall P; Chenevix-Trench G; Dunning AM; Simard J; Couch FJ; Antoniou AC; Easton DF; Zheng W
• Article: ONCOTARGET. 2016;7(25):38180-38190

  Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations

  Wu C; de Miranda NFCC; Chen L; Wasik AM; Mansouri L; Jurczak W; Galazka K; Dlugosz-Danecka M; Machaczka M; Zhang H; Peng R; Morin RD; Rosenquist R; Sander B; Pan-Hammarstrom Q
• Article: ONCOTARGET. 2016;7(24):35946-35959

  The histone methyltransferase EZH2 as a novel prosurvival factor in clinically aggressive chronic lymphocytic leukemia

  Papakonstantinou N; Ntoufa S; Chartomatsidou E; Kotta K; Agathangelidis A; Giassafaki L; Karamanli T; Bele P; Moysiadis T; Baliakas P; Sutton LA; Stavroyianni N; Anagnostopoulos A; Makris AM; Ghia P; Rosenquist R; Stamatopoulos K
• Article: SCIENCE. 2016;352(6291):1326-1329

  Oligodendrocyte heterogeneity in the mouse juvenile and adult central nervous system

  Marques S; Zeisel A; Codeluppi S; van Bruggen D; Falcao AM; Xiao L; Li H; Haring M; Hochgerner H; Romanov RA; Gyllborg D; Munoz-Manchado AB; La Manno G; Lonnerberg P; Floriddia EM; Rezayee F; Ernfors P; Arenas E; Hjerling-Leffler J; Harkany T; Richardson WD; Linnarsson S; Castelo-Branco G
• Published conference paper: BMC BIOINFORMATICS. 2016;17 Suppl 5(Suppl 5):173

  Integrating multiple immunogenetic data sources for feature extraction and mining somatic hypermutation patterns: the case of "towards analysis" in chronic lymphocytic leukaemia.

  Kavakiotis I; Xochelli A; Agathangelidis A; Tsoumakas G; Maglaveras N; Stamatopoulos K; Hadzidimitriou A; Vlahavas I; Chouvarda I
• Article: EPIGENETICS. 2016;11(6):449-455

  Prognostic impact of epigenetic classification in chronic lymphocytic leukemia: The case of subset #2

  Bhoi S; Ljungstrom V; Baliakas P; Mattsson M; Smedby KE; Juliusson G; Rosenquist R; Mansouri L
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2016;36(6):1240-1246

  Human Validation of Genes Associated With a Murine Atherosclerotic Phenotype

  Pasterkamp G; van der Laan SW; Haitjema S; Asl HF; Siemelink MA; Bezemer T; van Setten J; Dichgans M; Malik R; Worrall BB; Schunkert H; Samani NJ; de Kleijn DPV; Markus HS; Hoefer IE; Michoel T; de Jager SCA; Bjorkegren JLM; den Ruijter HM; Asselbergs FW
• Article: HUMAN MOLECULAR GENETICS. 2016;25(11):2256-2268

  Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

  de la Hoya M; Soukarieh O; Lopez-Perolio I; Vega A; Walker LC; van Ierland Y; Baralle D; Santamarina M; Lattimore V; Wijnen J; Whiley P; Blanco A; Raponi M; Hauke J; Wappenschmidt B; Becker A; Hansen TVO; Behar R; Niederacher D; Arnold N; Dworniczak B; Steinemann D; Faust U; Rubinstein W; Hulick PJ; Houdayer C; Caputo SM; Castera L; Pesaran T; Chao E; Brewer C; Southey MC; van Asperen CJ; Singer CF; Sullivan J; Poplawski N; Phuong M; Peto J; Johnson N; Burwinkel B; Surowy H; Bojesen SE; Flyger H; Lindblom A; Margolin S; Chang-Claude J; Rudolph A; Radice P; Galastri L; Olson JE; Hallberg E; Giles G; Milne RL; Andrulis IL; Glendon G; Hall P; Czene K; Blows F; Shah M; Wang Q; Dennis J; Michailidou K; McGuffog L; Bolla MK; Antoniou AC; Easton DF; Couch FJ; Tavtigian S; Vreeswijk MP; Parsons M; Meeks HD; Martins A; Goldgar DE; Spurdle AB
• Article: BONE. 2016;87:11-18

  Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

  Lindahl K; Kindmark A; Rubin C-J; Malmgren B; Grigelioniene G; Soderhall S; Ljunggren O; Astrom E
• Article: NATURE GENETICS. 2016;48(6):667-674

  Five endometrial cancer risk loci identified through genome-wide association analysis

  Cheng THT; Thompson DJ; O'Mara TA; Painter JN; Glubb DM; Flach S; Lewis A; French JD; Freeman-Mills L; Church D; Gorman M; Martin L; Hodgson S; Webb PM; Attia J; Holliday EG; McEvoy M; Scott RJ; Henders AK; Martin NG; Montgomery GW; Nyholt DR; Ahmed S; Healey CS; Shah M; Dennis J; Fasching PA; Beckmann MW; Hein A; Ekici AB; Hall P; Czene K; Darabi H; Li J; Doerk T; Duerst M; Hillemanns P; Runnebaum I; Amant F; Schrauwen S; Zhao H; Lambrechts D; Depreeuw J; Dowdy SC; Goode EL; Fridley BL; Winham SJ; Njolstad TS; Salvesen HB; Trovik J; Werner HMJ; Ashton K; Otton G; Proietto T; Liu T; Mints M; Tham E; Li MJ; Yip SH; Wang J; Bolla MK; Michailidou K; Wang Q; Tyrer JP; Dunlop M; Houlston R; Palles C; Hopper JL; Peto J; Swerdlow AJ; Burwinkel B; Brenner H; Meindl A; Brauch H; Lindblom A; Chang-Claude J; Couch FJ; Giles GG; Kristensen VN; Cox A; Cunningham JM; Pharoah PDP; Dunning AM; Edwards SL; Easton DF; Tomlinson I; Spurdle AB
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2016;157(2):319-327

  An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

  Madorsky-Feldman D; Sklair-Levy M; Perri T; Laitman Y; Paluch-Shimon S; Schmutzler R; Rhiem K; Lester J; Karlan BY; Singer CF; Van Maerken T; Claes K; Brunet J; Izquierdo A; Teule A; Lee JW; Kim S-W; Arun B; Jakubowska A; Lubinski J; Tucker K; Poplawski NK; Varesco L; Bonelli LA; Buys SS; Mitchell G; Tischkowitz M; Gerdes A-M; Seynaeve C; Robson M; Kwong A; Tung N; Tessa N; Domchek SM; Godwin AK; Rantala J; Arver B; Friedman E
• Article: PLOS ONE. 2016;11(5):e0156088

  Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

  Sahlin E; Nordenskjold M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
• Article: JOURNAL OF IMMUNOLOGY. 2016;196(10):4410-4417

  B Cell Anergy Modulated by TLR1/2 and the miR-17∼92 Cluster Underlies the Indolent Clinical Course of Chronic Lymphocytic Leukemia Stereotyped Subset #4.

  Ntoufa S; Papakonstantinou N; Apollonio B; Gounari M; Galigalidou C; Fonte E; Anagnostopoulos A; Belessi C; Muzio M; Ghia P; Stamatopoulos K
• Review: JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES. 2016;1021:3-13

  Antibodies as means for selective mass spectrometry.

  Boström T; Takanen JO; Hober S
• Article: PLOS ONE. 2016;11(5):e0153788

  RAD51B in Familial Breast Cancer

  Pelttari LM; Khan S; Vuorela M; Kiiski JI; Vilske S; Nevanlinna V; Ranta S; Schleutker J; Winqvist R; Kallioniemi A; Doerk T; Bogdanova NV; Figueroa J; Pharoah PDP; Schmidt MK; Dunning AM; Garcia-Closas M; Bolla MK; Dennis J; Michailidou K; Wang Q; Hopper JL; Southey MC; Rosenberg EH; Fasching PA; Beckmann MW; Peto J; dos-Santos-Silva I; Sawyer EJ; Tomlinson I; Burwinkel B; Surowy H; Guenel P; Truong T; Bojesen SE; Nordestgaard BG; Benitez J; Gonzalez-Neira A; Neuhausen SL; Anton-Culver H; Brenner H; Arndt V; Meindl A; Schmutzler RK; Brauch H; Bruening T; Lindblom A; Margolin S; Mannermaa A; Hartikainen JM; Chenevix-Trench G; Van Dyck L; Janssen H; Chang-Claude J; Rudolph A; Radice P; Peterlongo P; Hallberg E; Olson JE; Giles GG; Milne RL; Haiman CA; Schumacher F; Simard J; Dumont M; Kristensen V; Borresen-Dale A-L; Zheng W; Beeghly-Fadiel A; Grip M; Andrulis IL; Glendon G; Devilee P; Seynaeve C; Hooning MJ; Collee M; Cox A; Cross SS; Shah M; Luben RN; Hamann U; Torres D; Jakubowska A; Lubinski J; Couch FJ; Yannoukakos D; Orr N; Swerdlow A; Darabi H; Li J; Czene K; Hall P; Easton DF; Mattson J; Blomqvist C; Aittomaki K; Nevanlinna H
• Article: EPIGENETICS. 2016;11(5):335-343

  Epigenetic silencing of miR-26A1 in chronic lymphocytic leukemia and mantle cell lymphoma: Impact on EZH2 expression

  Kopparapu PK; Bhoi S; Mansouri L; Arabanian LS; Plevova K; Pospisilova S; Wasik AM; Croci GA; Sander B; Paulli M; Rosenquist R; Kanduri M
• Doctoral thesis: 2016

  eQTL mapping and inherited risk enrichment analysis : a systems biology approach for coronary artery disease

  Foroughi Asl H
• Review: TRENDS IN ENDOCRINOLOGY AND METABOLISM. 2016;27(5):262-281

  Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments

  Rivadeneira F; Makitie O
• Article: CANCER CAUSES & CONTROL. 2016;27(5):679-693

  Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

  Zhao Z; Wen W; Michailidou K; Bolla MK; Wang Q; Zhang B; Long J; Shu X-O; Schmidt MK; Milne RL; Garcia-Closas M; Chang-Claude J; Lindstrom S; Bojesen SE; Ahsan H; Aittomaki K; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Beeghly-Fadiel A; Benitez J; Blomqvist C; Bogdanova NV; Borresen-Dale A-L; Brand J; Brauch H; Brenner H; Burwinkel B; Cai Q; Casey G; Chenevix-Trench G; Couch FJ; Cox A; Cross SS; Czene K; Doerk T; Dumont M; Fasching PA; Figueroa J; Flesch-Janys D; Fletcher O; Flyger H; Fostira F; Gammon M; Giles GG; Guenel P; Haiman CA; Hamann U; Harrington P; Hartman M; Hooning MJ; Hopper JL; Jakubowska A; Jasmine F; John EM; Johnson N; Kabisch M; Khan S; Kibriya M; Knight JA; Kosma V-M; Kriege M; Kristensen V; Le Marchand L; Lee E; Li J; Lindblom A; Lophatananon A; Luben R; Lubinski J; Malone KE; Mannermaa A; Manoukian S; Margolin S; Marme F; McLean C; Meijers-Heijboer H; Meindl A; Miao H; Muir K; Neuhausen SL; Nevanlinna H; Neven P; Olson JE; Perkins B; Peterlongo P; Phillips K-A; Pylkas K; Rudolph A; Santella R; Sawyer EJ; Schmutzler RK; Schoemaker M; Shah M; Shrubsole M; Southey MC; Swerdlow AJ; Toland AE; Tomlinson I; Torres D; Therese T; Ursin G; Van Der Luijt RB; Verhoef S; Wang-Gohrke S; Whittemore AS; Winqvist R; Zamora MP; Zhao H; Dunning AM; Simard J; Hall P; Kraft P; Pharoah P; Hunter D; Easton DF; Zheng W
• Article: MOLECULAR PSYCHIATRY. 2016;21(5):594-600

  A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

  Thorgeirsson TE; Steinberg S; Reginsson GW; Bjornsdottir G; Rafnar T; Jonsdottir I; Helgadottir A; Gretarsdottir S; Helgadottir H; Jonsson S; Matthiasson SE; Gislason T; Tyrfingsson T; Gudbjartsson T; Isaksson HJ; Hardardottir H; Sigvaldason A; Kiemeney LA; Haugen A; Zienolddiny S; Wolf HJ; Franklin WA; Panadero A; Mayordomo JI; Hall IP; Ronmark E; Lundback B; Dirksen A; Ashraf H; Pedersen JH; Masson G; Sulem P; Thorsteinsdottir U; Gudbjartsson DF; Stefansson K
• Article: JOURNAL OF MEDICAL GENETICS. 2016;53(5):298-309

  No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

  Easton DF; Lesueur F; Decker B; Michailidou K; Li J; Allen J; Luccarini C; Pooley KA; Shah M; Bolla MK; Wang Q; Dennis J; Ahmad J; Thompson ER; Damiola F; Pertesi M; Voegele C; Mebirouk N; Robinot N; Durand G; Forey N; Luben RN; Ahmed S; Aittomaki K; Anton-Culver H; Arndt V; Baynes C; Beckman MW; Benitez J; Van Den Berg D; Blot WJ; Bogdanova NV; Bojesen SE; Brenner H; Chang-Claude J; Chia KS; Choi J-Y; Conroy DM; Cox A; Cross SS; Czene K; Darabi H; Devilee P; Eriksson M; Fasching PA; Figueroa J; Flyger H; Fostira F; Garcia-Closas M; Giles GG; Glendon G; Gonzalez-Neira A; Guenel P; Haiman CA; Hall P; Hart SN; Hartman M; Hooning MJ; Hsiung C-N; Ito H; Jakubowska A; James PA; John EM; Johnson N; Jones M; Kabisch M; Kang D; Kosma V-M; Kristensen V; Lambrechts D; Li N; Lindblom A; Long J; Lophatananon A; Lubinski J; Mannermaa A; Manoukian S; Margolin S; Matsuo K; Meindl A; Mitchell G; Muir K; Nevelsteen I; van den Ouweland A; Peterlongo P; Phuah SY; Pylkas K; Rowley SM; Sangrajrang S; Schmutzler RK; Shen C-Y; Shu X-O; Southey MC; Surowy H; Swerdlow A; Teo SH; Tollenaar RAEM; Tomlinson I; Torres D; Truong T; Vachon C; Verhoef S; Wong-Brown M; Zheng W; Zheng Y; Nevanlinna H; Scott RJ; Andrulis IL; Wu AH; Hopper JL; Couch FJ; Winqvist R; Burwinkel B; Sawyer EJ; Schmidt MK; Rudolph A; Doerk T; Brauch H; Hamann U; Neuhausen SL; Milne RL; Fletcher O; Pharoah PDP; Campbell IG; Dunning AM; Le Calvez-Kelm F; Goldgar DE; Tavtigian SV; Chenevix-Trench G
• Review: GYNECOLOGIC ONCOLOGY. 2016;141(2):386-401

  No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

  Hollestelle A; van der Baan FH; Berchuck A; Johnatty SE; Aben KK; Agnarsson BA; Aittomaki K; Alducci E; Andrulis IL; Anton-Culver H; Antonenkova NN; Antoniou AC; Apicella C; Arndt V; Arnold N; Arun BK; Arver B; Ashworth A; Baglietto L; Balleine R; Bandera EV; Barrowdale D; Bean YT; Beckmann L; Beckmann MW; Benitez J; Berger A; Berger R; Beuselinck B; Bisogna M; Bjorge L; Blomqvist C; Bogdanova NV; Bojesen A; Bojesen SE; Bolla MK; Bonanni B; Brand JS; Brauch H; Brenner H; Brinton L; Brooks-Wilson A; Bruinsma F; Brunet J; Bruning T; Budzilowska A; Bunker CH; Burwinkel B; Butzow R; Buys SS; Caligo MA; Campbell I; Carter J; Chang-Claude J; Chanock SJ; Claes KBM; Collee JM; Cook LS; Couch FJ; Cox A; Cramer D; Cross SS; Cunningham JM; Cybulski C; Czene K; Damiola F; Dansonka-Mieszkowska A; Darabi H; de la Hoya M; deFazio A; Dennis J; Devilee P; Dicks EM; Diez O; Doherty JA; Domchek SM; Dorfling CM; Dork T; Dos Santos Silva I; du Bois A; Dumont M; Dunning AM; Duran M; Easton DF; Eccles D; Edwards RP; Ehrencrona H; Ejlertsen B; Ekici AB; Ellis SD; Engel C; Eriksson M; Fasching PA; Feliubadalo L; Figueroa J; Flesch-Janys D; Fletcher O; Fontaine A; Fortuzzi S; Fostira F; Fridley BL; Friebel T; Friedman E; Friel G; Frost D; Garber J; Garcia-Closas M; Gayther SA; Gentry-Maharaj A; Gerdes A-M; Giles GG; Glasspool R; Glendon G; Godwin AK; Goodman MT; Gore M; Greene MH; Grip M; Gronwald J; Kaulich DG; Guenel P; Guzman SR; Haeberle L; Haiman CA; Hall P; Halverson SL; Hamann U; Hansen TVO; Harter P; Hartikainen JM; Healey S; Hein A; Heitz F; Henderson BE; Herzog J; Hildebrandt MAT; Bogdan CK; Hogdall E; Hogervorst FBL; Hopper JL; Humphreys K; Huzarski T; Imyanitov EN; Isaacs C; Jakubowska A; Janavicius R; Jaworska K; Jensen A; Jensen UB; Johnson N; Jukkola-Vuorinen A; Kabisch M; Karlan BY; Kataja V; Kauff N; Kelemen LE; Kerin MJ; Kiemeney LA; Kjaer SK; Knight JA; Knol-Bout JP; Konstantopoulou I; Kosma V-M; Krakstad C; Kristensen V; Kuchenbaecker KB; Kupryjanczyk J; Laitman Y; Lambrechts D; Lambrechts S; Larson MC; Lasa A; Laurent-Puig P; Lazaro C; Le ND; Le Marchand L; Leminen A; Lester J; Levine DA; Li J; Liang D; Lindblom A; Lindor N; Lissowska J; Long J; Lu KH; Lubinski J; Lundvall L; Lurie G; Mai PL; Mannermaa A; Margolin S; Mariette F; Marme F; Martens JWM; Massuger LFAG; Maugard C; Mazoyer S; McGuffog L; McGuire V; McLean C; McNeish L; Meindi A; Menegaux F; Menendez P; Menkiszak J; Menon U; Mensenkamp AR; Miller N; Milne RL; Modugno F; Montagna M; Moysich KB; Mueller H; Mulligan AM; Muranen TA; Narod SA; Nathanson KL; Ness RB; Neuhausen SL; Nevanlinna H; Neven P; Nielsen FC; Nielsen SF; Nordestgaard BG; Nussbaum RL; Odunsi K; Offit K; Olah E; Olopade OI; Olson JE; Olson SH; Oosterwijk JC; Orlow I; Orr N; Orsulic S; Osorio A; Ottini L; Paul J; Pearce CL; Pedersen IS; Peissel B; Pejovic T; Pelttari LM; Perkins J; Permuth-Wey J; Peterlongo P; Peto J; Phelan CM; Phillips K-A; Piedmonte M; Pike MC; Platte R; Plisiecka-Halasa J; Poole EM; Poppe B; Pylkas K; Radice P; Ramus SJ; Rebbeck TR; Reed MWR; Rennert G; Risch HA; Robson M; Rodriguez GC; Romero A; Rossing MA; Rothstein JH; Rudolph A; Runnebaum I; Salani R; Salvesen HB; Sawyer EJ; Schildkraut JM; Schmidt MK; Schmutzler RK; Schneeweiss A; Schoemaker MJ; Schrauder MG; Schumacher F; Schwaab I; Scuvera G; Sellers TA; Severi G; Seynaeve CM; Shah M; Shrubsole M; Siddiqui N; Sieh W; Simard J; Singer CF; Sinilnikova OM; Smeets D; Sohn C; Soller M; Song H; Soucy P; Southey MC; Stegmaier C; Stoppa-Lyonnet D; Sucheston L; Swerdlow A; Tangen IL; Tea M-K; Teixeira MR; Terry KL; Terry MB; Thomassen M; Thompson PJ; Tihomirova L; Tischkowitz M; Toland AE; Tollenaar RAEM; Tomlinson I; Torres D; Truong T; Tsimiklis H; Tung N; Tworoger SS; Tyrer JP; Vachon CM; Van 't Veer LJ; van Altena AM; Van Asperen CJ; van den Berg D; van den Ouweland AMW; van Doom HC; Van Nieuwenhuysen E; van Rensburg EJ; Vergote I; Verhoef S; Vierkant RA; Vijai J; Vitonis AF; von Wachenfeldt A; Walsh C; Wang Q; Wang-Gohrke S; Wappenschmidt B; Weischer M; Weitzel JN; Weltens C; Wentzensen N; Whittemore AS; Wilkens LR; Winqvist R; Wu AH; Wu X; Yang HP; Zaffaroni D; Zamora MP; Zheng W; Ziogas A; Chenevix-Trench G; Pharoah PDP; Rookus MA; Hooning MJ; Goode EL
• Editorial: BLOOD. 2016;127(17):2052-2054

  Not all subclones matter in CLL

  Sutton L-A; Rosenquist R
• Article: NATURE COMMUNICATIONS. 2016;7:11375

  Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

  Couch FJ; Kuchenbaecker KB; Michailidou K; Mendoza-Fandino GA; Nord S; Lilyquist J; Olswold C; Hallberg E; Agata S; Ahsan H; Aittomaeki K; Ambrosone C; Andrulis IL; Anton-Culver H; Arndt V; Arun BK; Arver B; Barile M; Barkardottir RB; Barrowdale D; Beckmann L; Beckmann MW; Benitez J; Blank SV; Blomqvist C; Bogdanova NV; Bojesen SE; Bolla MK; Bonanni B; Brauch H; Brenner H; Burwinkel B; Buys SS; Caldes T; Caligo MA; Canzian F; Carpenter J; Chang-Claude J; Chanock SJ; Chung WK; Claes KBM; Cox A; Cross SS; Cunningham JM; Czene K; Daly MB; Damiola F; Darabi H; de la Hoya M; Devilee P; Diez O; Ding YC; Dolcetti R; Domchek SM; Dorfling CM; dos-Santos-Silva I; Dumont M; Dunning AM; Eccles DM; Ehrencrona H; Ekici AB; Eliassen H; Ellis S; Fasching PA; Figueroa J; Flesch-Janys D; Foersti A; Fostira F; Foulkes WD; Friebel T; Friedman E; Frost D; Gabrielson M; Gammon MD; Ganz PA; Gapstur SM; Garber J; Gaudet MM; Gayther SA; Gerdes A-M; Ghoussaini M; Giles GG; Glendon G; Godwin AK; Goldberg MS; Goldgar DE; Gonzalez-Neira A; Greene MH; Gronwald J; Guenel P; Gunter M; Haeberle L; Haiman CA; Hamann U; Hansen TVO; Hart S; Healey S; Heikkinen T; Henderson BE; Herzog J; Hogervorst FBL; Hollestelle A; Hooning MJ; Hoover RN; Hopper JL; Humphreys K; Hunter DJ; Huzarski T; Imyanitov EN; Isaacs C; Jakubowska A; James P; Janavicius R; Jensen UB; John EM; Jones M; Kabisch M; Kar S; Karlan BY; Khan S; Khaw K-T; Kibriya MG; Knight JA; Ko Y-D; Konstantopoulou I; Kosma V-M; Kristensen V; Kwong A; Laitman Y; Lambrechts D; Lazaro C; Lee E; Le Marchand L; Lester J; Lindblom A; Lindor N; Lindstrom S; Liu J; Long J; Lubinski J; Mai PL; Makalic E; Malone KE; Mannermaa A; Manoukian S; Margolin S; Marme F; Martens JWM; McGuffog L; Meindl A; Miller A; Milne RL; Miron P; Montagna M; Mazoyer S; Mulligan AM; Muranen TA; Nathanson KL; Neuhausen SL; Nevanlinna H; Nordestgaard BG; Nussbaum RL; Offit K; Olah E; Olopade OI; Olson JE; Osorio A; Park SK; Peeters PH; Peissel B; Peterlongo P; Peto J; Phelan CM; Pilarski R; Poppe B; Pylkaes K; Radice P; Rahman N; Rantala J; Rappaport C; Rennert G; Richardson A; Robson M; Romieu I; Rudolph A; Rutgers EJ; Sanchez M-J; Santella RM; Sawyer EJ; Schmidt DF; Schmidt MK; Schmutzler RK; Schumacher F; Scott R; Senter L; Sharma P; Simard J; Singer CF; Sinilnikova OM; Soucy P; Southey M; Steinemann D; Stenmark-Askmalm M; Stoppa-Lyonnet D; Swerdlow A; Szabo CI; Tamimi R; Tapper W; Teixeira MR; Teo S-H; Terry MB; Thomassen M; Thompson D; Tihomirova L; Toland AE; Tollenaar RAEM; Tomlinson I; Truong T; Tsimiklis H; Teule A; Tumino R; Tung N; Turnbull C; Ursin G; van Deurzen CHM; van Rensburg EJ; Varon-Mateeva R; Wang Z; Wang-Gohrke S; Weiderpass E; Weitzel JN; Whittemore A; Wildiers H; Winqvist R; Yang XR; Yannoukakos D; Yao S; Zamora MP; Zheng W; Hall P; Kraft P; Vachon C; Slager S; Chenevix-Trench G; Pharoah PDP; Monteiro AAN; Garcia-Closas M; Easton DF; Antoniou AC
• Conference publication: BONE ABSTRACTS. 2016

  CRTAP variants in early-onset osteoporosis and recurrent fractures

  Costantini A; Vuorimies I; Makitie R; Kampe A; Taylan F; Makitie O
• Article: CLINICAL CANCER RESEARCH. 2016;22(8):2032-2040

  An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors

  Bikos V; Karypidou M; Stalika E; Baliakas P; Xochelli A; Sutton L-A; Papadopoulos G; Agathangelidis A; Papadopoulou E; Davis Z; Algara P; Kanellis G; Traverse-Glehen A; Mollejo M; Anagnostopoulos A; Ponzoni M; Gonzalez D; Pospisilova S; Matutes E; Angel Piris M; Papadaki T; Ghia P; Rosenquist R; Oscier D; Darzentas N; Tzovaras D; Belessi C; Hadzidimitriou A; Stamatopoulos K
• Article: STEM CELL REPORTS. 2016;6(4):607-617

  Wnt/β-Catenin Stimulation and Laminins Support Cardiovascular Cell Progenitor Expansion from Human Fetal Cardiac Mesenchymal Stromal Cells

  Mansson-Broberg A; Rodin S; Bulatovic I; Ibarra C; Lofling M; Genead R; Wardell E; Felldin U; Granath C; Alici E; Le Blanc K; Smith CIE; Salasova A; Westgren M; Sundstrom E; Uhlen P; Arenas E; Sylven C; Tryggvason K; Corbascio M; Simonson OE; Osterholm C; Grinnemo K-H
• Review: JOURNAL OF INTERNAL MEDICINE. 2016;279(4):347-357

  Prognostic indices in chronic lymphocytic leukaemia: where do we stand how do we proceed?

  Baliakas P; Mattsson M; Stamatopoulos K; Rosenquist R
• Article: NATURE GENETICS. 2016;48(4):374-386

  Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

  Dunning AM; Michailidou K; Kuchenbaecker KB; Thompson D; French JD; Beesley J; Healey CS; Kar S; Pooley KA; Lopez-Knowles E; Dicks E; Barrowdale D; Sinnott-Armstrong NA; Sallari RC; Hillman KM; Kaufmann S; Sivakumaran H; Marjaneh MM; Lee JS; Hills M; Jarosz M; Drury S; Canisius S; Bolla MK; Dennis J; Wang Q; Hopper JL; Southey MC; Broeks A; Schmidt MK; Lophatananon A; Muir K; Beckmann MW; Fasching PA; dos-Santos-Silva I; Peto J; Sawyer EJ; Tomlinson I; Burwinkel B; Marme F; Guenel P; Truong T; Bojesen SE; Flyger H; Gonzalez-Neira A; Perez JIA; Anton-Culver H; Eunjung L; Arndt V; Brenner H; Meindl A; Schmutzler RK; Brauch H; Hamann U; Aittomaki K; Blomqvist C; Ito H; Matsuo K; Bogdanova N; Dork T; Lindblom A; Margolin S; Kosma V-M; Mannermaa A; Tseng C-C; Wu AH; Lambrechts D; Wildiers H; Chang-Claude J; Rudolph A; Peterlongo P; Radice P; Olson JE; Giles GG; Milne RL; Haiman CA; Henderson BE; Goldberg MS; Teo SH; Yip CH; Nord S; Borresen-Dale A-L; Kristensen V; Long J; Zheng W; Pylkas K; Winqvist R; Andrulis IL; Knight JA; Devilee P; Seynaeve C; Figueroa J; Sherman ME; Czene K; Darabi H; Hollestelle A; van den Ouweland AMW; Humphreys K; Gao Y-T; Shu X-O; Cox A; Cross SS; Blot W; Cai Q; Ghoussaini M; Perkins BJ; Shah M; Choi J-Y; Kang D; Lee SC; Hartman M; Kabisch M; Torres D; Jakubowska A; Lubinski J; Brennan P; Sangrajrang S; Ambrosone CB; Toland AE; Shen C-Y; Wu P-E; Orr N; Swerdlow A; McGuffog L; Healey S; Lee A; Kapuscinski M; John EM; Terry MB; Daly MB; Goldgar DE; Buys SS; Janavicius R; Tihomirova L; Tung N; Dorfling CM; van Rensburg EJ; Neuhausen SL; Ejlertsen B; Hansen TVO; Osorio A; Benitez J; Rando R; Weitzel JN; Bonanni B; Peissel B; Manoukian S; Papi L; Ottini L; Konstantopoulou I; Apostolou P; Garber J; Rashid MU; Frost D; Izatt L; Ellis S; Godwin AK; Arnold N; Niederacher D; Rhiem K; Bogdanova-Markov N; Sagne C; Stoppa-Lyonnet D; Damiola F; Sinilnikova OM; Mazoyer S; Isaacs C; Claes KBM; De Leeneer K; De la Hoya M; Caldes T; Nevanlinna H; Khan S; Mensenkamp AR; Hooning MJ; Rookus MA; Kwong A; Olah E; Diez O; Brunet J; Pujana MA; Gronwald J; Huzarski T; Barkardottir RB; Laframboise R; Soucy P; Montagna M; Agata S; Teixeira MR; Park SK; Lindor N; Couch FJ; Tischkowitz M; Foretova L; Vijai J; Offit K; Singer CF; Rappaport C; Phelan CM; Greene MH; Mai PL; Rennert G; Imyanitov EN; Hulick PJ; Phillips K-A; Piedmonte M; Mulligan AM; Glendon G; Bojesen A; Thomassen M; Caligo MA; Yoon S-Y; Friedman E; Laitman Y; Borg A; Von Wachenfeldt A; Ehrencrona H; Rantala J; Olopade OI; Ganz PA; Nussbaum RL; Gayther SA; Nathanson KL; Domchek SM; Arun BK; Mitchell G; Karlan BY; Lester J; Maskarinec G; Woolcott C; Scott C; Stone J; Apicella C; Tamimi R; Luben R; Khaw K-T; Helland A; Haakensen V; Dowsett M; Pharoah PDP; Simard J; Hall P; Garcia-Closas M; Vachon C; Chenevix-Trench G; Antoniou AC; Easton DF; Edwards SL
• Article: METHODS. 2016;98:50-59

  Detection and signal amplification in zebrafish RNA FISH

  Hauptmann G; Lauter G; Soll I
• Article: GENETICS IN MEDICINE. 2016;18(4):405-409

  The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

  Suerink M; van der Klift HM; ten Broeke SW; Dekkers OM; Bernstein I; Capella Munar G; Gomez Garcia E; Hoogerbrugge N; Letteboer TGW; Menko FH; Lindblom A; Mensenkamp A; Moller P; van Os TA; Rahner N; Redeker BJW; Olderode M; Spruijt L; Vos YJ; Wagner A; Morreau H; Hes FJ; Vasen HFA; Tops CM; Wijnen JT; Nielsen M
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(4):796-805

  Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

  Takatani R; Molinaro A; Grigelioniene G; Tafaj O; Watanabe T; Reyes M; Sharma A; Singhal V; Raymond FL; Linglart A; Jueppner H
• Article: SCIENTIFIC REPORTS. 2016;6:23500

  The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement

  Valind A; Haika C; Klasson MEK; Johansson MC; Gullander J; Soller M; Baldetorp B; Gisselsson D
• Article: CELL SYSTEMS. 2016;2(3):196-208

  Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease

  Talukdar HA; Asl HF; Jain RK; Ermel R; Ruusalepp A; Franzen O; Kidd BA; Readhead B; Giannarelli C; Kovacic JC; Ivert T; Dudley JT; Civelek M; Lusis AJ; Schadt EE; Skogsberg J; Michoel T; Bjorkegren JLM
• Article: PLOS ONE. 2016;11(3):e0150555

  Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

  Wang Z; Iida A; Miyake N; Nishiguchi KM; Fujita K; Nakazawa T; Alswaid A; Albalwi MA; Kim O-H; Cho T-J; Lim G-Y; Isidor B; David A; Rustad CF; Merckoll E; Westvik J; Stattin E-L; Grigelioniene G; Kou I; Nakajima M; Ohashi H; Smithson S; Matsumoto N; Nishimura G; Ikegawa S
• Editorial: HAEMATOLOGICA. 2016;101(3):263-265

  Innovation In the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go?

  Pospisilova S; Sutton L-A; Malcikova J; Tausch E; Rossi D; Montserrat E; Moreno C; Stamatopoulos K; Gaidano G; Rosenquist R; Ghia P
• Article: NATURE GENETICS. 2016;48(3):318-322

  HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

  Sveinbjornsson G; Gudbjartsson DF; Halldorsson BV; Kristinsson KG; Gottfredsson M; Barrett JC; Gudmundsson LJ; Blondal K; Gylfason A; Gudjonsson SA; Helgadottir HT; Jonasdottir A; Jonasdottir A; Karason A; Kardum LB; Knezevic J; Kristjansson H; Kristjansson M; Love A; Luo Y; Magnusson OT; Sulem P; Kong A; Masson G; Thorsteinsdottir U; Dembic Z; Nejentsev S; Blondal T; Jonsdottir I; Stefansson K
• Article: BLOOD. 2016;127(8):1007-1016

  Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

  Ljungstrom V; Cortese D; Young E; Pandzic T; Mansouri L; Plevova K; Ntoufa S; Baliakas P; Clifford R; Sutton L-A; Blakemore SJ; Stavroyianni N; Agathangelidis A; Rossi D; Hoglund M; Kotaskova J; Juliusson G; Belessi C; Chiorazzi N; Panagiotidis P; Langerak AW; Smedby KE; Oscier D; Gaidano G; Schuh A; Davi F; Pott C; Strefford JC; Trentin L; Pospisilova S; Ghia P; Stamatopoulos K; Sjoblom T; Rosenquist R
• Article: BREAST CANCER RESEARCH. 2016;18(1):22

  Genetic predisposition to ductal carcinoma in situ of the breast

  Petridis C; Brook MN; Shah V; Kohut K; Gorman P; Caneppele M; Levi D; Papouli E; Orr N; Cox A; Cross SS; dos-Santos-Silva I; Peto J; Swerdlow A; Schoemaker MJ; Bolla MK; Wang Q; Dennis J; Michailidou K; Benitez J; Gonzalez-Neira A; Tessier DC; Vincent D; Li J; Figueroa J; Kristensen V; Borresen-Dale A-L; Soucy P; Simard J; Milne RL; Giles GG; Margolin S; Lindblom A; Bruening T; Brauch H; Southey MC; Hopper JL; Doerk T; Bogdanova NV; Kabisch M; Hamann U; Schmutzler RK; Meindl A; Brenner H; Arndt V; Winqvist R; Pylkas K; Fasching PA; Beckmann MW; Lubinski J; Jakubowska A; Mulligan AM; Andrulis IL; Tollenaar RAEM; Devilee P; Le Marchand L; Haiman CA; Mannermaa A; Kosma V-M; Radice P; Peterlongo P; Marme F; Burwinkel B; van Deurzen CHM; Hollestelle A; Miller N; Kerin MJ; Lambrechts D; Floris G; Wesseling J; Flyger H; Bojesen SE; Yao S; Ambrosone CB; Chenevix-Trench G; Truong T; Guenel P; Rudolph A; Chang-Claude J; Nevanlinna H; Blomqvist C; Czene K; Brand JS; Olson JE; Couch FJ; Dunning AM; Hall P; Easton DF; Pharoah PDP; Pinder SE; Schmidt MK; Tomlinson I; Roylance R; Garcia-Closas M; Sawyer EJ
• Article: BMC GENETICS. 2016;17:41

  Exome sequencing in one family with gastric- and rectal cancer

  Thutkawkorapin J; Picelli S; Kontham V; Liu T; Nilsson D; Lindblom A
• Article: BREAST CANCER RESEARCH. 2016;18(1):15

  Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

  Silvestri V; Barrowdale D; Mulligan AM; Neuhausen SL; Fox S; Karlan BY; Mitchell G; James P; Thull DL; Zorn KK; Carter NJ; Nathanson KL; Dornchek SM; Rebbeck TR; Ramus SJ; Nussbaum RL; Olopade OI; Rantala J; Yoon S-Y; Caligo MA; Spugnesi L; Bojesen A; Pedersen IS; Thomassen M; Jensen UB; Toland AE; Senter L; Andrulis IL; Glendon G; Hulick PJ; Irnyanitov EN; Greene MH; Mai PL; Singer CF; Rappaport-Fuerhauser C; Kramer G; Vijai J; Offit K; Robson M; Lincoln A; Jacobs L; Machackova E; Foretova L; Navratilova M; Vasickova P; Couch FJ; Hallberg E; Ruddy KJ; Sharma P; Kim S-W; Teixeira MR; Pinte P; Montagna M; Matricardi L; Arason A; Johannsson OT; Barkardottir RB; Jakubowska A; Lubinski J; Izquierdo A; Angel Pujana M; Balmana J; Diez O; Ivady G; Papp J; Olah E; Kwong A; Nevanlinna H; Aittomaki K; Perez Segura P; Caldes T; Van Maerken T; Poppe B; Claes KBM; Isaacs C; Elan C; Lasset C; Stoppa-Lyonnet D; Barjhoux L; Belotti M; Meindl A; Gehrig A; Sutter C; Enger C; Niederacher D; Steinemann D; Hahnen E; Kast K; Arnold N; Varon-Mateeva R; Wand D; Godwin AK; Evans DG; Frost D; Perkins J; Adlard J; Izatt L; Platte R; Eeles R; Ellis S; Hamann U; Garber J; Fostira F; Fountzilas G; Pasini B; Giannini G; Rizzolo P; Russo A; Cortesi L; Papi L; Varesco L; Palli D; Zanna I; Savarese A; Radice P; Manoukian S; Peissel B; Barile M; Bonanni B; Viel A; Pensotti V; Tommasi S; Peterlongo P; Weitzel JN; Osorio A; Benitez J; McGuffog L; Healey S; Gerdes A-M; Ejlertsen B; Hansen TVO; Steele L; Ding YC; Tung N; Janavicius R; Goldgar DE; Buys SS; Daly MB; Bane A; Terry MB; John EM; Southey M; Easton DF; Chenevix-Trench G; Antoniou AC; Ottini L
• Review: ANTICANCER RESEARCH. 2016;36(2):487-493

  Human Papillomavirus as a Diagnostic and Prognostic Tool in Cancer of Unknown Primary in the Head and Neck Region

  Sivars L; Tani E; Nasman A; Ramqvist T; Munck-Wikland E; Dalianis T
• Article: HAEMATOLOGICA. 2016;101(2):115-208

  The European Hematology Association Roadmap for European Hematology Research: a consensus document

  Engert A; Balduini C; Brand A; Coiffier B; Cordonnier C; Doehner H; de Wit TD; Eichinger S; Fibbe W; Green T; de Haas F; Iolascon A; Jaffredo T; Rodeghiero F; Salles G; Schuringa JJ; Andre M; Andre-Schmutz I; Bacigalupo A; Bochud P-Y; den Boer M; Bonini C; Camaschella C; Cant A; Cappellini MD; Cazzola M; Lo Celso C; Dimopoulos M; Douay L; Dzierzak E; Einsele H; Ferreri A; De Franceschi L; Gaulard P; Gottgens B; Greinacher A; Gresele P; Gribben J; de Haan G; Hansen J-B; Hochhaus A; Kadir R; Kaveri S; Kouskoff V; Kuehne T; Kyrle P; Ljungman P; Maschmeyer G; Mendez-Ferrer S; Milsom M; Mummery C; Ossenkoppele G; Pecci A; Peyvandi F; Philipsen S; Reitsma P; Maria Ribera J; Risitano A; Rivella S; Ruf W; Schroeder T; Scully M; Socie G; Staal F; Stanworth S; Stauder R; Stilgenbauer S; Tamary H; Theilgaard-Monch K; Thein SL; Tilly H; Trneny M; Vainchenker W; Vannucchi AM; Viscoli C; Vrielink H; Zaaijer H; Zanella A; Zolla L; Zwaginga JJ; Martinez PA; van den Akker E; Allard S; Anagnou N; Andolfo I; Andrau J-C; Angelucci E; Anstee D; Aurer I; Avet-Loiseau H; Aydinok Y; Bakchoul T; Balduini A; Barcellini W; Baruch D; Baruchel A; Bayry J; Bento C; van den Berg A; Bernardi R; Bianchi P; Bigas A; Biondi A; Bohonek M; Bonnet D; Borchmann P; Borregaard N; Braekkan S; van den Brink M; Brodin E; Bullinger L; Buske C; Butzeck B; Cammenga J; Campo E; Carbone A; Cervantes F; Cesaro S; Charbord P; Claas F; Cohen H; Conard J; Coppo P; Vives Corrons J-L; da Costa L; Davi F; Delwel R; Dianzani I; Domanovic D; Donnelly P; Drnovsek TD; Dreyling M; Du M-Q; Dufour C; Durand C; Efremov D; Eleftheriou A; Elion J; Emonts M; Engelhardt M; Ezine S; Falkenburg F; Favier R; Federico M; Fenaux P; Fitzgibbon J; Flygare J; Foa R; Forrester L; Galacteros F; Garagiola I; Gardiner C; Garraud O; van Geet C; Geiger H; Geissler J; Germing U; Ghevaert C; Girelli D; Godeau B; Goekbuget N; Goldschmidt H; Goodeve A; Graf T; Graziadei G; Griesshammer M; Gruel Y; Guilhot F; von Gunten S; Gyssens I; Halter J; Harrison C; Harteveld C; Hellstrom-Lindberg E; Hermine O; Higgs D; Hillmen P; Hirsch H; Hoskin P; Huls G; Inati A; Johnson P; Kattamis A; Kiefel V; Kleanthous M; Klump H; Krause D; Hovinga JK; Lacaud G; Lacroix-Desmazes S; Landman-Parker J; LeGouill S; Lenz G; von Lilienfeld-Toal M; von Lindern M; Lopez-Guillermo A; Lopriore E; Lozano M; MacIntyre E; Makris M; Mannhalter C; Martens J; Mathas S; Matzdorff A; Medvinsky A; Menendez P; Migliaccio AR; Miharada K; Mikulska M; Minard V; Montalban C; de Montalembert M; Montserrat E; Morange P-E; Mountford J; Muckenthaler M; Mueller-Tidow C; Mumford A; Nadel B; Navarro J-T; el Nemer W; Noizat-Pirenne F; O'Mahony B; Oldenburg J; Olsson M; Oostendorp R; Palumbo A; Passamonti F; Patient R; de Latour RP; Pflumio F; Pierelli L; Piga A; Pollard D; Raaijmakers M; Radford J; Rambach R; Rao AK; Raslova H; Rebulla P; Rees D; Ribrag V; Rijneveld A; Rinalducci S; Robak T; Roberts I; Rodrigues C; Rosendaal F; Rosenwald A; Rule S; Russo R; Saglio G; Sanchez M; Scharf RE; Schlenke P; Semple J; Sierra J; So-Osman C; Manuel Soria J; Stamatopoulos K; Stegmayr B; Stunnenberg H; Swinkels D; Taborda Barata JP; Taghon T; Taher A; Terpos E; Thachil J; Tissot JD; Touw I; Toye A; Trappe R; Traverse-Glehen A; Unal S; Vaulont S; Viprakasit V; Vitolo U; van Wijk R; Wojtowicz A; Zeerleder S; Zieger B
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207

  A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

  Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
• Article: EUROPEAN JOURNAL OF NEUROLOGY. 2016;23(2):401-407

  Familial aggregation of stroke amongst young patients in Lund Stroke Register

  Ilinca A; Kristoffersson U; Soller M; Lindgren AG
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2016;101(2):394-415

  Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

  Munns CF; Shaw N; Kiely M; Specker BL; Thacher TD; Ozono K; Michigami T; Tiosano D; Mughal MZ; Makitie O; Ramos-Abad L; Ward L; DiMeglio LA; Atapattu N; Cassinelli H; Braegger C; Pettifor JM; Seth A; Idris HW; Bhatia V; Fu J; Goldberg G; Savendahl L; Khadgawat R; Pludowski P; Maddock J; Hypponen E; Oduwole A; Frew E; Aguiar M; Tulchinsky T; Butler G; Hogler W
• Letter: HAEMATOLOGICA. 2016;101(2):e63-e65

  UGT2B17 expression: a novel prognostic marker within IGHV-mutated chronic lymphocytic leukemia?

  Bhoi S; Baliakas P; Cortese D; Mattsson M; Engvall M; Smedby KE; Juliusson G; Sutton L-A; Mansouri L
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2016;108(2):djv315

  BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

  Meeks HD; Song H; Michailidou K; Bolla MK; Dennis J; Wang Q; Barrowdale D; Frost D; McGuffog L; Ellis S; Feng B; Buys SS; Hopper JL; Southey MC; Tesoriero A; James PA; Bruinsma F; Campbell IG; Broeks A; Schmidt MK; Hogervorst FBL; Beckman MW; Fasching PA; Fletcher O; Johnson N; Sawyer EJ; Riboli E; Banerjee S; Menon U; Tomlinson I; Burwinkel B; Hamann U; Marme F; Rudolph A; Janavicius R; Tihomirova L; Tung N; Garber J; Cramer D; Terry KL; Poole EM; Tworoger SS; Dorfling CM; van Rensburg EJ; Godwin AK; Guenel P; Truong T; Stoppa-Lyonnet D; Damiola F; Mazoyer S; Sinilnikova OM; Isaacs C; Maugard C; Bojesen SE; Flyger H; Gerdes A-M; Hansen TVO; Jensen A; Kjaer SK; Hogdall C; Hogdall E; Pedersen IS; Thomassen M; Benitez J; Gonzalez-Neira A; Osorio A; de la Hoya M; Perez Segura P; Diez O; Lazaro C; Brunet J; Anton-Culver H; Eunjung L; John EM; Neuhausen SL; Ding YC; Castillo D; Weitzel JN; Ganz PA; Nussbaum RL; Chan SB; Karlan BY; Lester J; Wu A; Gayther S; Ramus SJ; Sieh W; Whittermore AS; Monteiro ANA; Phelan CM; Terry MB; Piedmonte M; Offit K; Robson M; Levine D; Moysich KB; Cannioto R; Olson SH; Daly MB; Nathanson KL; Domchek SM; Lu KH; Liang D; Hildebrant MAT; Ness R; Modugno F; Pearce L; Goodman MT; Thompson PJ; Brenner H; Butterbach K; Meindl A; Hahnen E; Wappenschmidt B; Brauch H; Bruening T; Blomqvist C; Khan S; Nevanlinna H; Pelttari LM; Aittomaeki K; Butzow R; Bogdanova NV; Doerk T; Lindblom A; Margolin S; Rantala J; Kosma V-M; Mannermaa A; Lambrechts D; Neven P; Claes KBM; Van Maerken T; Chang-Claude J; Flesch-Janys D; Heitz F; Varon-Mateeva R; Peterlongo P; Radice P; Viel A; Barile M; Peissel B; Manoukian S; Montagna M; Oliani C; Peixoto A; Teixeira MR; Collavoli A; Hallberg E; Olson JE; Goode EL; Hart SN; Shimelis H; Cunningham JM; Giles GG; Milne RL; Healey S; Tucker K; Haiman CA; Henderson BE; Goldberg MS; Tischkowitz M; Simard J; Soucy P; Eccles DM; Le N; Borresen-Dale A-L; Kristensen V; Salvesen HB; Bjorge L; Bandera EV; Risch H; Zheng W; Beeghly-Fadiel A; Cai H; Pylkas K; Tollenaar RAEM; van der Ouweland AMW; Andrulis IL; Knight JA; Narod S; Devilee P; Winqvist R; Figueroa J; Greene MH; Mai PL; Loud JT; Garcia-Closas M; Schoemaker MJ; Czene K; Darabi H; McNeish I; Siddiquil N; Glasspool R; Kwong A; Park SK; Teo SH; Yoon S-Y; Matsuo K; Hosono S; Woo YL; Gao Y-T; Foretova L; Singer CF; Rappaport-Feurhauser C; Friedman E; Laitman Y; Rennert G; Imyanitov EN; Hulick PJ; Olopade OI; Senter L; Olah E; Doherty JA; Schildkraut J; Koppert LB; Kiemeney LA; Massuger LFAG; Cook LS; Pejovic T; Li J; Borg A; Ofverholm A; Rossing MA; Wentzensen N; Henriksson K; Cox A; Cross SS; Pasini BJ; Shah M; Kabisch M; Torres D; Jakubowska A; Lubinski J; Gronwald J; Agnarsson BA; Kupryjanczyk J; Moes-Sosnowska J; Fostira F; Konstantopoulou I; Slager S; Jones M; Antoniou AC; Berchuck A; Swerdlow A; Chenevix-Trench G; Dunning AM; Pharoah PDP; Hall P; Easton DF; Couch FJ; Spurdle AB; Goldgar DE
• Article: ENDOCRINE-RELATED CANCER. 2016;23(2):77-91

  CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

  Thompson DJ; O'Mara TA; Glubb DM; Painter JN; Cheng T; Folkerd E; Doody D; Dennis J; Webb PM; Gorman M; Martin L; Hodgson S; Michailidou K; Tyrer JP; Maranian MJ; Hall P; Czene K; Darabi H; Li J; Fasching PA; Hein A; Beckmann MW; Ekici AB; Doerk T; Hillemanns P; Duerst M; Runnebaum I; Zhao H; Depreeuw J; Schrauwen S; Amant F; Goode EL; Fridley BL; Dowdy SC; Winham SJ; Salvesen HB; Trovik J; Njolstad TS; Werner HMJ; Ashton K; Proietto T; Otton G; Carvajal-Carmona L; Tham E; Liu T; Mints M; Scott RJ; McEvoy M; Attia J; Holliday EG; Montgomery GW; Martin NG; Nyholt DR; Henders AK; Hopper JL; Traficante N; Ruebner M; Swerdlow AJ; Burwinkel B; Brenner H; Meindl A; Brauch H; Lindblom A; Lambrechts D; Chang-Claude J; Couch FJ; Giles GG; Kristensen VN; Cox A; Bolla MK; Wang Q; Bojesen SE; Shah M; Luben R; Khaw K-T; Pharoah PDP; Dunning AM; Tomlinson I; Dowsett M; Easton DF; Spurdle AB
• Meeting abstract: MOLECULAR GENETICS AND METABOLISM. 2016;117(2):S107

  Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

  Solyom A; Mitchell J; Ehlert K; Tanpaiboon P; Magnusson B; Grigelioniene G; Huegle B; Guelbert N; Arslan N; Makay B; Ozen S; Batu ED; Selim L; Hadipour Z; Hadipour F; Cuevas-Cid A; Puri R; Simonaro C; He X; Schuchman E
• Review: BONEKEY REP. 2016;5:773

  Value of rare low bone mass diseases for osteoporosis genetics

  Costantini A; Makitie O
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2016;11:1

  Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

  Kuchinskaya E; Grigelioniene G; Hammarsjo A; Lee H-R; Hogberg L; Grigelionis G; Kim O-H; Nishimura G; Cho T-J
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2016;85(2):83-106

  Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

  Munns CF; Shaw N; Kiely M; Specker BL; Thacher TD; Ozono K; Michigami T; Tiosano D; Mughal MZ; Maekitie O; Ramos-Abad L; Ward L; DiMeglio LA; Atapattu N; Cassinelli H; Braegger C; Pettifor JM; Seth A; Idris HW; Bhatia V; Fu J; Goldberg G; Saevendahl L; Khadgawat R; Pludowski P; Maddock J; Hyppoenen E; Oduwole A; Frew E; Aguiar M; Tulchinsky T; Butler G; Hoegler W; Aguiar M; Atapattu N; Bhatia V; Braegger C; Butler G; Cassinelli H; DiMeglio LA; Frew E; Fu J; Goldberg G; Hypponen E; Idris HW; Khadgawat R; Kiely M; Maddock J; Makitie O; Michigami T; Mughal MZ; Munns CF; Oduwole A; Ozono K; Pettifor JM; Pludowski P; Ramos-Abad L; Savendahl L; Seth A; Shaw N; Specker BL; Thacher TD; Tiosano D; Tulchinsky T; Ward L
• Article: AMERICAN JOURNAL OF SPORTS MEDICINE. 2016;44(1):152-158

  Medial Patellofemoral Ligament Injuries in Children With First-Time Lateral Patellar Dislocations: A Magnetic Resonance Imaging and Arthroscopic Study

  Askenberger M; Arendt EA; Ekstrom W; Voss U; Finnbogason T; Janarv P-M
• Article: STUDIES IN HEALTH TECHNOLOGY AND INFORMATICS. 2016;229:402-404

  Functioning and Challenges in Equality and Accessibility Among People with Short Stature.

  Pesola K; Anttila H; Mäkitie O; Leppäjoki S; Hiekkala S
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2016;85(4):232-241

  Fibroblast Growth Factor 23 Concentrations Reflect Sex Differences in Mineral Metabolism and Growth in Early Infancy

  Holmlund-Suila E; Viljakainen H; Ljunggren O; Hytinantti T; Andersson S; Makitie O
• Article: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY. 2016;170(3):141-148

  Serum 25-Hydroxyvitamin D in Early Childhood Is Nonlinearly Associated with Allergy

  Savilahti EM; Makitie O; Kukkonen AK; Andersson S; Viljakainen H; Savilahti E; Kuitunen M
• Letter: HAEMATOLOGICA. 2016;101(1):e20-e23

  PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

  Marincevic-Zuniga Y; Zachariadis V; Cavelier L; Castor A; Barbany G; Forestier E; Fogelstrand L; Heyman M; Abrahamsson J; Lonnerholm G; Nordgren A; Syvanen A-C; Nordlund J
• Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170(1):266-269

  Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu

  Hammarsjo A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedren S; Nordenskjold M; Nishimura G; Grigelioniene G
• Article: CLINICAL CANCER RESEARCH. 2016;22(1):167-174

  Antigen Selection Shapes the T-cell Repertoire in Chronic Lymphocytic Leukemia

  Vardi A; Agathangelidis A; Stalika E; Karypidou M; Siorenta A; Anagnostopoulos A; Rosenquist R; Hadzidimitriou A; Ghia P; Sutton L-A; Stamatopoulos K
• Journal article: SCIENCE. 2015;350(6266):1397

  The impact of new technologies on clinical decision-making in health care

  Rosenquist Brandell R; Kallioniemi O; Wedell A
• Article: SCIENTIFIC REPORTS. 2015;5:17369

  Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

  Cheng THT; Thompson D; Painter J; O'Mara T; Gorman M; Martin L; Palles C; Jones A; Buchanan DD; Win AK; Hopper J; Jenkins M; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Giles GG; Pharoah P; Peto J; Cox A; Swerdlow A; Couch F; Cunningham JM; Goode EL; Winham SJ; Lambrechts D; Fasching P; Burwinkel B; Brenner H; Brauch H; Chang-Claude J; Salvesen HB; Kristensen V; Darabi H; Li J; Liu T; Lindblom A; Hall P; Echeverry de Polanco M; Sans M; Carracedo A; Castellvi-Bel S; Rojas-Martinez A; Aguiar SJ; Teixeira MR; Dunning AM; Dennis J; Otton G; Proietto T; Holliday E; Attia J; Ashton K; Scott RJ; McEvoy M; Dowdy SC; Fridley BL; Werner HMJ; Trovik J; Njolstad TS; Tham E; Mints M; Runnebaum I; Hillemanns P; Doerk T; Amant F; Schrauwen S; Hein A; Beckmann MW; Ekici A; Czene K; Meindl A; Bolla MK; Michailidou K; Tyrer JP; Wang Q; Ahmed S; Healey CS; Shah M; Annibali D; Depreeuw J; Al-Tassan NA; Harris R; Meyer BF; Whiffin N; Hosking FJ; Kinnersley B; Farrington SM; Timofeeva M; Tenesa A; Campbell H; Haile RW; Hodgson S; Carvajal-Carmona L; Cheadle JP; Easton D; Dunlop M; Houlston R; Spurdle A; Tomlinson I
• Article: BIOINFORMATICS. 2015;31(23):3844-3846

  ARResT/AssignSubsets: a novel application for robust subclassification of chronic lymphocytic leukemia based on B cell receptor IG stereotypy.

  Bystry V; Agathangelidis A; Bikos V; Sutton LA; Baliakas P; Hadzidimitriou A; Stamatopoulos K; Darzentas N; European Research Initiative on CLL
• Editorial: LEUKEMIA & LYMPHOMA. 2015;56(11):3008-3009

  A new piece to the stereotypy "puzzle" in chronic lymphocytic leukemia

  Rosenquist R
• Article: PEDIATRIC TRANSPLANTATION. 2015;19(7):767-775

  Increased p53 protein expression as a potential predictor of early relapse after hematopoietic stem cell transplantation in children with acute myelogenous leukemia

  Mattsson K; Honkaniemi E; Barbany G; Gustafsson B
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(11):1438-1450

  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

  Dondorp W; de Wert G; Bombard Y; Bianchi DW; Bergmann C; Borry P; Chitty LS; Fellmann F; Forzano F; Hall A; Henneman L; Howard HC; Lucassen A; Ormond K; Peterlin B; Radojkovic D; Rogowski W; Soller M; Tibben A; Tranebjaerg L; van El CG; Cornel MC
• Article: METABOLISM-CLINICAL AND EXPERIMENTAL. 2015;64(11):1574-1581

  Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study

  Huovinen V; Viljakainen H; Hakkarainen A; Saukkonen T; Toiviainen-Salo S; Lundbom N; Lundbom J; Makitie O
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2015;24(11):1680-1691

  Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk

  Guo X; Long J; Zeng C; Michailidou K; Ghoussaini M; Bolla MK; Wang Q; Milne RL; Shu X-O; Cai Q; Beesley J; Kar SP; Andrulis IL; Anton-Culver H; Arndt V; Beckmann MW; Beeghly-Fadiel A; Benitez J; Blot W; Bogdanova N; Bojesen SE; Brauch H; Brenner H; Brinton L; Broeks A; Bruening T; Burwinkel B; Cai H; Canisius S; Chang-Claude J; Choi J-Y; Couch FJ; Cox A; Cross SS; Czene K; Darabi H; Devilee P; Droit A; Doerk T; Fasching PA; Fletcher O; Flyger H; Fostira F; Gaborieau V; Garcia-Closas M; Giles GG; Grip M; Guenel P; Haiman CA; Hamann U; Hartman M; Hollestelle A; Hopper JL; Hsiung C-N; Ito H; Jakubowska A; Johnson N; Kabisch M; Kang D; Khan S; Knight JA; Kosma V-M; Lambrechts D; Le Marchand L; Li J; Lindblom A; Lophatananon A; Lubinski J; Mannermaa A; Manoukian S; Margolin S; Marme F; Matsuo K; McLean CA; Meindl A; Muir K; Neuhausen SL; Nevanlinna H; Nord S; Olson JE; Orr N; Peterlongo P; Putti TC; Rudolph A; Sangrajrang S; Sawyer EJ; Schmidt MK; Schmutzler RK; Shen C-Y; Shi J; Shrubsole MJ; Southey MC; Swerdlow A; Teo SH; Thienpont B; Toland AE; Tollenaar RAEM; Tomlinson IPM; Truong T; Tseng C-C; van den Ouweland A; Wen W; Winqvist R; Wu A; Yip CH; Zamora MP; Zheng Y; Hall P; Pharoah PDP; Simard J; Chenevix-Trench G; Dunning AM; Easton DF; Zheng W
• Article: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. 2015;33(6):924-930

  Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids

  Markula-Patjas K; Valta H; Pekkinen M; Andersson S; Aalto K; Lahdenne P; Viljakainen H; Makitie O
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2015;33(31):3591-3597

  Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

  Movahedi M; Bishop DT; Macrae F; Mecklin J-P; Moeslein G; Olschwang S; Eccles D; Evans DG; Maher ER; Bertario L; Bisgaard M-L; Dunlop MG; Ho JWC; Hodgson SV; Lindblom A; Lubinski J; Morrison PJ; Murday V; Ramesar RS; Side L; Scott RJ; Thomas HJW; Vasen HF; Burn J; Mathers JC
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2015;107(11):djv219

  Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

  Zhang B; Shu X-O; Delahanty RJ; Zeng C; Michailidou K; Bolla MK; Wang Q; Dennis J; Wen W; Long J; Li C; Dunning AM; Chang-Claude J; Shah M; Perkins BJ; Czene K; Darabi H; Eriksson M; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Lambrechts D; Neven P; Wildiers H; Floris G; Schmidt MK; Rookus MA; van den Hurk K; de Kort WLAM; Couch FJ; Olson JE; Hallberg E; Vachon C; Rudolph A; Seibold P; Flesch-Janys D; Peto J; dos-Santos-Silva I; Fletcher O; Johnson N; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Li J; Humphreys K; Brand J; Guenel P; Truong T; Cordina-Duverger E; Menegaux F; Burwinkel B; Marme F; Yang R; Surowy H; Benitez J; Pilar Zamora M; Perez JIA; Cox A; Cross SS; Reed MWR; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Chenevix-Trench G; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Lindblom A; Margolin S; Hooning MJ; Martens JWM; Tilanus-Linthorst MMA; Collee JM; Hopper JL; Southey MC; Tsimiklis H; Apicella C; Slager S; Toland AE; Ambrosone CB; Yannoukakos D; Giles GG; Milne RL; McLean C; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Swerdlow AJ; Ashworth A; Orr N; Jones M; Figueroa J; Garcia-Closas M; Brinton L; Lissowska J; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Brauch H; Bruening T; Ko Y-D; Peterlongo P; Manoukian S; Bonanni B; Radice P; Bogdanova N; Antonenkova N; Doerk T; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Devilee P; Seynaeve C; Van Asperen CJ; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Hamann U; Torres D; Schmutzler RK; Neuhausen SL; Anton-Culver H; Kristensen VN; Alnaes GIG; Pierce BL; Kraft P; Peters U; Lindstrom S; Seminara D; Burgess S; Ahsan H; Whittemore AS; John EM; Gammon MD; Malone KE; Tessier DC; Vincent D; Bacot F; Luccarini C; Baynes C; Ahmed S; Maranian M; Healey CS; Gonzalez-Neira A; Pita G; Rosario Alonso M; Alvarez N; Herrero D; Pharoah PDP; Simard J; Hall P; Hunter DJ; Easton DF; Zheng W
• Conference publication: ANNALS OF ONCOLOGY. 2015;26:131

  Importance to clarify germline hMLH1 K618A missense mutation for clinical surveillance and genetic counseling

  Liu T; Lindblom A
• Review: SEMINARS IN CANCER BIOLOGY. 2015;34:22-35

  The complex interplay between cell-intrinsic and cell-extrinsic factors driving the evolution of chronic lymphocytic leukemia

  Sutton L-A; Rosenquist R
• Article: ENDOCRINE-RELATED CANCER. 2015;22(5):851-861

  Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

  O'Mara TA; Glubb DM; Painter JN; Cheng T; Dennis J; Attia J; Holliday EG; McEvoy M; Scott RJ; Ashton K; Proietto T; Otton G; Shah M; Ahmed S; Healey CS; Gorman M; Martin L; Hodgson S; Fasching PA; Hein A; Beckmann MW; Ekici AB; Hall P; Czene K; Darabi H; Li J; Duerst M; Runnebaum I; Hillemanns P; Doerk T; Lambrechts D; Depreeuw J; Annibali D; Amant F; Zhao H; Goode EL; Dowdy SC; Fridley BL; Winham SJ; Salvesen HB; Njolstad TS; Trovik J; Werner HMJ; Tham E; Liu T; Mints M; Bolla MK; Michailidou K; Tyrer JP; Wang Q; Hopper JL; Peto J; Swerdlow AJ; Burwinkel B; Brenner H; Meindl A; Brauch H; Lindblom A; Chang-Claude J; Couch FJ; Giles GG; Kristensen VN; Cox A; Pharoah PDP; Dunning AM; Tomlinson I; Easton DF; Thompson DJ; Spurdle AB
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2015;35(10):2207-2217

  Prediction of Causal Candidate Genes in Coronary Artery Disease Loci

  Braenne I; Civelek M; Vilne B; Di Narzo A; Johnson AD; Zhao Y; Reiz B; Codoni V; Webb TR; Asl HF; Hamby SE; Zeng L; Tregouet D-A; Hao K; Topol EJ; Schadt EE; Yang X; Samani NJ; Bjorkegren JLM; Erdmann J; Schunkert H; Lusis AJ
• Article: HUMAN MOLECULAR GENETICS. 2015;24(19):5637-5643

  Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease

  Huttenlocher J; Stefansson H; Steinberg S; Helgadottir HT; Sveinbjornsdottir S; Riess O; Bauer P; Stefansson K
• Article: CALCIFIED TISSUE INTERNATIONAL. 2015;97(4):364-375

  Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity

  Viljakainen HT; Valta H; Lipsanen-Nyman M; Saukkonen T; Kajantie E; Andersson S; Makitie O
• Conference publication: ARTHRITIS & RHEUMATOLOGY. 2015;67

  Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date

  Solyom A; Huegle B; Magnusson B; Makay B; Arslan N; Mitchell J; Tanpaiboon P; Guelbert N; Puri R; Jung L; Grigelioniene G; Ehlert K; Beck M; Simonaro C; Schuchman E
• Conference publication: ACTA PAEDIATRICA. 2015;104:15-16

  SERUM ENDOTOXIN ACTIVITY LEVELS ARE NOT ASSOCIATED WITH METABOLIC SYNDROME IN EARLY-ONSET OBESITY

  Viljakainen HT; Lehto M; Lipsanen-Nyman M; Saukkonen T; Makitie O
• Conference publication: INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER. 2015;25(9):1111

  THE GYNECOLOGICAL SURVEILLANCE OF WOMEN WITH LYNCH SYNDROME IN SWEDEN

  Mints M; Tzortzatos G; Andersson E; Soller M; Askmalm MS; Zagoras T; Georgii-Hemming P; Lindblom A; Tham E
• Article: PLOS ONE. 2015;10(9):e0138156

  Altered Osteocyte-Specific Protein Expression in Bone after Childhood Solid Organ Transplantation

  Pereira RC; Valta H; Tumber N; Salusky IB; Jalanko H; Makitie O; Perry KW
• Article: CLINICAL CANCER RESEARCH. 2015;21(18):4174-4183

  Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing

  Parry M; Rose-Zerilli MJJ; Ljungstrom V; Gibson J; Wang J; Walewska R; Parker H; Parker A; Davis Z; Gardiner A; McIver-Brown N; Kalpadakis C; Xochelli A; Anagnostopoulos A; Fazi C; de Castro DG; Dearden C; Pratt G; Rosenquist R; Ashton-Key M; Forconi F; Collins A; Ghia P; Matutes E; Pangalis G; Stamatopoulos K; Oscier D; Strefford JC
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1270

  Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)

  Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
• Article: ANTICANCER RESEARCH. 2015;35(9):4813-4819

  Predicting Outcome in Colonoscopic High-risk Surveillance

  Forsberg AM; Hagel E; Jaramillo E; Rubio CA; Bjorck E; Lindblom A
• Review: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2015;82(3):208-217

  Targets for Ibrutinib Beyond B Cell Malignancies

  Berglof A; Hamasy A; Meinke S; Palma M; Krstic A; Mansson R; Kimby E; Osterborg A; Smith CIE
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2015;170(6):847-858

  The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013

  Olsson L; Oefverholm II; Noren-Nystroem U; Zachariadis V; Nordlund J; Sjoegren H; Golovleva I; Nordgren A; Paulsson K; Heyman M; Barbany G; Johansson B
• Article: STEM CELLS AND DEVELOPMENT. 2015;24(17):2032-2040

  Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage.

  Sobol M; Raykova D; Cavelier L; Khalfallah A; Schuster J; Dahl N
• Article: JOURNAL OF NUTRITION. 2015;145(9):2084-2091

  Early Protein Intake Is Associated with Body Composition and Resting Energy Expenditure in Young Adults Bornwith Very Low Birth Weight

  Matinolli H-M; Hovi P; Mannisto S; Sipola-Leppanen M; Eriksson JG; Makitie O; Jarvenpaa A-L; Andersson S; Kajantie E
• Article: GYNECOLOGIC ONCOLOGY. 2015;138(3):717-722

  The gynecological surveillance of women with Lynch Syndrome in Sweden

  Tzortzatos G; Andersson E; Soller M; Askmalm MS; Zagoras T; Georgii-Hemming P; Lindblom A; Tham E; Mints M
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185

  Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

  Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
• Letter: BLOOD. 2015;126(8):1043-1044

  Prognostic relevance of MYD88 mutations in CLL: the jury is still out

  Baliakas P; Hadzidimitriou A; Agathangelidis A; Rossi D; Sutton L-A; Kminkova J; Scarfo L; Pospisilova S; Gaidano G; Stamatopoulos K; Ghia P; Rosenquist R
• Article: CLINICAL CANCER RESEARCH. 2015;21(16):3759-3770

  Regulator of Chromosome Condensation 2 Identifies High-Risk Patients within Both Major Phenotypes of Colorectal Cancer

  Bruun J; Kolberg M; Ahlquist TC; Royrvik EC; Nome T; Leithe E; Lind GE; Merok MA; Rognum TO; Bjorkoy G; Johansen T; Lindblom A; Sun X-F; Svindland A; Liestol K; Nesbakken A; Skotheim RI; Lothe RA
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(8):1112

  Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta (vol 23, pg 1112, 2015)

  Lindahl K; Astroem E; Rubin C-J; Grigelioniene G; Malmgren B; Ljunggren O; Kindmark A
• Article: EUROPEAN JOURNAL OF CANCER. 2015;51(12):1580-1587

  A model for predicting clinical outcome in patients with human papillomavirus-positive tonsillar and base of tongue cancer

  Tertipis N; Hammar U; Nasman A; Vlastos A; Nordfors C; Grun N; Ahrlund-Richter A; Sivars L; Haeggblom L; Marklund L; Hammarstedt-Nordenvall L; Chaturvedi AK; Munck-Wikland E; Ramqvist T; Bottai M; Dalianis T
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(8):1042-1050

  Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

  Lindahl K; Astrom E; Rubin C-J; Grigelioniene G; Malmgren B; Ljunggren O; Kindmark A
• Article: BLOOD. 2015;126(2):233-241

  SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

  Malcovati L; Karimi M; Papaemmanuil E; Ambaglio I; Jadersten M; Jansson M; Elena C; Galli A; Walldin G; Della Porta MG; Raaschou-Jensen K; Travaglino E; Kallenbach K; Pietra D; Ljungstrom V; Conte S; Boveri E; Invernizzi R; Rosenquist R; Campbell PJ; Cazzola M; Lindberg EH
• Article: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2015;50(7):866-874

  Colonoscopy findings in high-risk individuals compared to an average-risk control population

  Forsberg A; Kjellstrom L; Andreasson A; Jaramillo E; Rubio CA; Bjorck E; Agreus L; Talley NJ; Lindblom A
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(1):22-34

  Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

  Darabi H; Mccue K; Beesley J; Michailidou K; Nord S; Kar S; Humphreys K; Thompson D; Ghoussaini M; Bolla MK; Dennis J; Wang Q; Canisius S; Scott CG; Apicella C; Hopper JL; Southey MC; Stone J; Broeks A; Schmidt MK; Scott RJ; Lophatananon A; Muir K; Beckmann MW; Ekici AB; Fasching PA; Heusinger K; dos-Santos-Silva I; Peto J; Tomlinson I; Sawyer EJ; Burwinkel B; Marme F; Guenel P; Truong T; Bojesen SE; Flyger H; Benitez J; Gonzalez-Neira A; Anton-Culver H; Neuhausen SL; Arndt V; Brenner H; Engel C; Meindl A; Schmutzler RK; Arnold N; Brauch H; Hamann U; Chang-Claude J; Khan S; Nevanlinna H; Ito H; Matsuo K; Bogdanova NV; Doerk T; Lindblom A; Margolin S; Kosma V-M; Mannermaa A; Tseng C-C; Wu AH; Floris G; Lambrechts D; Rudolph A; Peterlongo P; Radice P; Couch FJ; Vachon C; Giles GG; McLean C; Milne RL; Dugue P-A; Haiman CA; Maskarinec G; Woolcott C; Henderson BE; Goldberg MS; Simard J; Teo SH; Mariapun S; Helland A; Haakensen V; Zheng W; Beeghly-Fadiel A; Tamimi R; Jukkola-Vuorinen A; Winqvist R; Andrulis IL; Knight JA; Devilee P; Tollenaar RAEM; Figueroa J; Garcia-Closas M; Czene K; Hooning MJ; Tilanus-Linthorst M; Li J; Gao Y-T; Shu X-O; Cox A; Cross SS; Luben R; Khaw K-T; Choi J-Y; Kang D; Hartman M; Lim WY; Kabisch M; Torres D; Jakubowska A; Lubinski J; McKay J; Sangrajrang S; Toland AE; Yannoukakos D; Shen C-Y; Yu J-C; Ziogas A; Schoemaker MJ; Swerdlow A; Borresen-Dale A-L; Kristensen V; French JD; Edwards SL; Dunning AM; Easton DF; Hal P; Chenevix-Trench G
• Article: COMPLEX PSYCHIATRY. 2015;1(2):76-81

  Mood Stabilizers and the Influence on Global Leukocyte DNA Methylation in Bipolar Disorder.

  Backlund L; Wei YB; Martinsson L; Melas PA; Liu JJ; Mu N; Östenson C-G; Ekström TJ; Schalling M; Lavebratt C
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2015;100(7):2515-2518

  Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation

  Tenhola S; Hendy GN; Valta H; Canaff L; Lee BSP; Wong BYL; Valimaki MJ; Cole DEC; Makitie O
• Article: PLOS ONE. 2015;10(7):e0131883

  Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

  Viljakainen H; Andersson-Assarsson JC; Armenio M; Pekkinen M; Pettersson M; Valta H; Lipsanen-Nyman M; Makitie O; Lindstrand A
• Article: PEDIATRIC RADIOLOGY. 2015;45(7):1066-1071

  Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia

  Levin TL; Makitie O; Berdon WE; Lachman RS
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2015;13(1):15

  Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

  Wendt C; Lindblom A; Arver B; von Wachenfeldt A; Margolin S
• Article: BLOOD. 2015;125(23):3580-3587

  Excessive antigen reactivity may underlie the clinical aggressiveness of chronic lymphocytic leukemia stereotyped subset #8.

  Gounari M; Ntoufa S; Apollonio B; Papakonstantinou N; Ponzoni M; Chu CC; Rossi D; Gaidano G; Chiorazzi N; Stamatopoulos K; Ghia P
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(6):729-735

  Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

  Severin F; Borry P; Cornel MC; Daniels N; Fellmann F; Hodgson SV; Howard HC; John J; Kaariainen H; Kayserili H; Kent A; Koerber F; Kristoffersson U; Kroese M; Lewis C; Marckmann G; Meyer P; Pfeufer A; Schmidtke J; Skirton H; Tranebjaerg L; Rogowski WH
• Article: ANTICANCER RESEARCH. 2015;35(6):3155-3165

  Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer

  Marikkannu R; Aravidis C; Rantala J; Picelli S; Adamovic T; Keihas M; Liu T; Kontham V; Nilsson D; Lindblom A
• Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2015;212(6):833-843

  Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia

  Mansouri L; Sutton L-A; Ljungstrom V; Bondza S; Arngarden L; Bhoi S; Larsson J; Cortese D; Kalushkova A; Plevova K; Young E; Gunnarsson R; Falk-Sorqvist E; Lonn P; Muggen AF; Yan X-J; Sander B; Enblad G; Smedby KE; Juliusson G; Belessi C; Rung J; Chiorazzi N; Strefford JC; Langerak AW; Pospisilova S; Davi F; Hellstrom M; Jernberg-Wiklund H; Ghia P; Soderberg O; Stamatopoulos K; Nilsson M; Rosenquist R
• Article: NATURE GENETICS. 2015;47(6):672-676

  The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia

  Paulsson K; Lilljebjorn H; Biloglav A; Olsson L; Rissler M; Castor A; Barbany G; Fogelstrand L; Nordgren A; Sjogren H; Fioretos T; Johansson B
• Article: JAMA SURGERY. 2015;150(6):512-518

  Short-term Results of a Magnetic Resonance Imaging-Based Swedish Screening Program for Individuals at Risk for Pancreatic Cancer

  Del Chiaro M; Verbeke CS; Kartalis N; Mucelli RP; Gustafsson P; Hansson J; Haas SL; Segersvard R; Andren-Sandberg A; Lohr J-M
• Article: AMERICAN JOURNAL OF PATHOLOGY. 2015;185(6):1740-1748

  Molecular Evidence for Antigen Drive in the Natural History of Mantle Cell Lymphoma

  Xochelli A; Sutton L-A; Agathangelidis A; Stalika E; Karypidou M; Marantidou F; Navarro Lopez A; Papadopoulos G; Supikova J; Groenen P; Boudjogra M; Sundstrom C; Ponzoni M; Francova HS; Anagnostopoulos A; Pospisilova S; Papadaki T; Tzovaras D; Ghia P; Pott C; Davi F; Campo E; Rosenquist R; Hadzidimitriou A; Belessi C; Stamatopoulos K
• Article: CALCIFIED TISSUE INTERNATIONAL. 2015;96(6):575-579

  Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes

  Franceschi R; Vincenzi M; Camilot M; Antoniazzi F; Freemont AJ; Adams JE; Laine C; Makitie O; Mughal MZ
• Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2015;74:838-839

  FARBER DISEASE: FIRST NATURAL HISTORY COHORT DEMONSTRATES A BROAD CLINICAL SPECTRUM WITH IMPLICATIONS FOR JUVENILE IDIOPATHIC ARTHRITIS PATIENTS

  Solyom A; Ehlert K; Huegle B; Magnusson B; Grigelioniene G; Guelbert N; Gardner-Medwin J; Tanpaiboon P; Jung L; Puri R; DiRocco M; Mitchell J; Beck M; Simonaro C; Schuchman E
• Article: HUMAN MOLECULAR GENETICS. 2015;24(10):2966-2984

  Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

  Orr N; Dudbridge F; Dryden N; Maguire S; Novo D; Perrakis E; Johnson N; Ghoussaini M; Hopper JL; Southey MC; Apicella C; Stone J; Schmidt MK; Broeks A; Van't Veer LJ; Hogervorst FB; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Gibson L; Aitken Z; Warren H; Sawyer E; Tomlinson I; Kerin MJ; Miller N; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Guenel P; Truong T; Cordina-Duverger E; Sanchez M; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Benitez J; Zamora MP; Perez JIA; Menendez P; Anton-Culver H; Neuhausen SL; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Hamann U; Brauch H; Justenhoven C; Bruning T; Ko Y-D; Nevanlinna H; Aittomaki K; Blomqvist C; Khan S; Bogdanova N; Dork T; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Chenevix-Trench G; Beesley J; Lambrechts D; Moisse M; Floris G; Beuselinck B; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Radice P; Peterlongo P; Peissel B; Pensotti V; Couch FJ; Olson JE; Slettedahl S; Vachon C; Giles GG; Milne RL; McLean C; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Kristensen V; Alnaes GG; Nord S; Borresen-Dale A-L; Zheng W; Deming-Halverson S; Shrubsole M; Long J; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Devilee P; Tollenaar RAEM; Seynaeve CM; Van Asperen CJ; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Czene K; Darabi H; Eriksson M; Klevebring D; Hooning MJ; Hollestelle A; van Deurzen CHM; Kriege M; Hall P; Li J; Liu J; Humphreys K; Cox A; Cross SS; Reed MWR; Pharoah PDP; Dunning AM; Shah M; Perkins BJ; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Ashworth A; Swerdlow A; Jones M; Schoemaker MJ; Meindl A; Schmutzler RK; Olswold C; Slager S; Toland AE; Yannoukakos D; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Matsuo K; Ito H; Iwata H; Ishiguro J; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Teo SH; Yip CH; Kang P; Ikram MK; Shu X-O; Lu W; Gao Y-T; Cai H; Kang D; Choi J-Y; Park SK; Noh D-Y; Hartman M; Miao H; Lim WY; Lee SC; Sangrajrang S; Gaborieau V; Brennan P; McKay J; Wu P-E; Hou M-F; Yu J-C; Shen C-Y; Blot W; Cai Q; Signorello LB; Luccarini C; Bayes C; Ahmed S; Maranian M; Healey CS; Gonzalez-Neira A; Pita G; Alonso MR; Alvarez N; Herrero D; Tessier DC; Vincent D; Bacot F; Hunter DJ; Lindstrom S; Dennis J; Michailidou K; Bolla MK; Easton DF; Silva IDS; Fletcher O; Peto J
• Article: ORPHANET JOURNAL OF RARE DISEASES. 2015;10:52

  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

  Schlogel MJ; Mendola A; Fastre E; Vasudevan P; Devriendt K; de Ravel TJL; Van Esch H; Casteels I; Arroyo Carrera I; Cristofoli F; Fieggen K; Jones K; Lipson M; Balikova I; Singer A; Soller M; Mercedes Villanueva M; Revencu N; Boon LM; Brouillard P; Vikkula M
• Article: NATURE GENETICS. 2015;47(5):435-444

  Large-scale whole-genome sequencing of the Icelandic population

  Gudbjartsson DF; Helgason H; Gudjonsson SA; Zink F; Oddson A; Gylfason A; Besenbacher S; Magnusson G; Halldorsson BV; Hjartarson E; Sigurdsson GT; Stacey SN; Frigge ML; Holm H; Saemundsdottir J; Helgadottir HT; Johannsdottir H; Sigfusson G; Thorgeirsson G; Sverrisson JT; Gretarsdottir S; Walters GB; Rafnar T; Thjodleifsson B; Bjornsson ES; Olafsson S; Thorarinsdottir H; Steingrimsdottir T; Gudmundsdottir TS; Theodors A; Jonasson JG; Sigurdsson A; Bjornsdottir G; Jonsson JJ; Thorarensen O; Ludvigsson P; Gudbjartsson H; Eyjolfsson GI; Sigurdardottir O; Olafsson I; Arnar DO; Magnusson OT; Kong A; Masson G; Thorsteinsdottir U; Helgason A; Sulem P; Stefansson K
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2015;30(5):906-912

  TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)

  Molinaro A; Tiosano D; Takatani R; Chrysis D; Russell W; Koscielniak N; Kottler M-L; Agretti P; De Marco G; Ahtiainen P; Christov M; Makitie O; Tonacchera M; Juppner H
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2015;107(5):djv036

  Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

  Mavaddat N; Pharoah PDP; Michailidou K; Tyrer J; Brook MN; Bolla MK; Wang Q; Dennis J; Dunning AM; Shah M; Luben R; Brown J; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Czene K; Darabi H; Eriksson M; Peto J; dos-Santos-Silva I; Dudbridge F; Johnson N; Schmidt MK; Broeks A; Verhoef S; Rutgers EJ; Swerdlow A; Ashworth A; Orr N; Schoemaker MJ; Figueroa J; Chanock SJ; Brinton L; Lissowska J; Couch FJ; Olson JE; Vachon C; Pankratz VS; Lambrechts D; Wildiers H; Van Ongeval C; Van Limbergen E; Kristensen V; Alnaes GG; Nord S; Borresen-Dale A-L; Nevanlinna H; Muranen TA; Aittomaeki K; Blomqvist C; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Trentham-Dietz A; Newcomb P; Titus L; Egan KM; Hunter DJ; Lindstrom S; Tamimi RM; Kraft P; Rahman N; Turnbull C; Renwick A; Seal S; Li J; Liu J; Humphreys K; Benitez J; Zamora MP; Perez JIA; Menendez P; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Bogdanova NV; Antonenkova NN; Doerk T; Anton-Culver H; Neuhausen SL; Ziogas A; Bernstein L; Devilee P; Tollenaar RAEM; Seynaeve C; van Asperen CJ; Cox A; Cross SS; Reed MWR; Khusnutdinova E; Bermisheva M; Prokofyeva D; Takhirova Z; Meindl A; Schmutzler RK; Sutter C; Yang R; Schuermann P; Bremer M; Christiansen H; Park-Simon T-W; Hillemanns P; Guenel P; Truong T; Menegaux F; Sanchez M; Radice P; Peterlongo P; Manoukian S; Pensotti V; Hopper JL; Tsimiklis H; Apicella C; Southey MC; Brauch H; Bruening T; Ko Y-D; Sigurdson AJ; Doody MM; Hamann U; Torres D; Ulmer H-U; Foersti A; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Chenevix-Trench G; Balleine R; Giles GG; Milne RL; McLean C; Lindblom A; Margolin S; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Eilber U; Wang-Gohrke S; Hooning MJ; Hollestelle A; van den Ouweland AMW; Koppert LB; Carpenter J; Clarke C; Scott R; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Brenner H; Arndt V; Stegmaier C; Dieffenbach AK; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Grip M; Offit K; Vijai J; Robson M; Rau-Murthy R; Dwek M; Swann R; Perkins KA; Goldberg MS; Labreche F; Dumont M; Eccles DM; Tapper WJ; Rafiq S; John EM; Whittemore AS; Slager S; Yannoukakos D; Toland AE; Yao S; Zheng W; Halverson SL; Gonzalez-Neira A; Pita G; Alonso MR; Alvarez N; Herrero D; Tessier DC; Vincent D; Bacot F; Luccarini C; Baynes C; Ahmed S; Maranian M; Healey CS; Simard J; Hall P; Easton DF; Garcia-Closas M
• Review: LEUKEMIA. 2015;29(5):999-1003

  Laboratory recommendations for scoring deep molecular responses following treatment for chronic myeloid leukemia

  Cross NCP; White HE; Colomer D; Ehrencrona H; Foroni L; Gottardi E; Lange T; Lion T; Polakova KM; Dulucq S; Martinelli G; Leibundgut EO; Pallisgaard N; Barbany G; Sacha T; Talmaci R; Izzo B; Saglio G; Pane F; Mueller MC; Hochhaus A
• Letter: CLINICAL GENETICS. 2015;87(5):496-498

  Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

  Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
• Article: BREAST CANCER RESEARCH. 2015;17(1):61

  An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

  Blein S; Bardel C; Danjean V; McGuffog L; Healey S; Barrowdale D; Lee A; Dennis J; Kuchenbaecker KB; Soucy P; Terry MB; Chung WK; Goldgar DE; Buys SS; Janavicius R; Tihomirova L; Tung N; Dorfling CM; van Rensburg EJ; Neuhausen SL; Ding YC; Gerdes A-M; Ejlertsen B; Nielsen FC; Hansen TVO; Osorio A; Benitez J; Andres Conejero R; Segota E; Weitzel JN; Thelander M; Peterlongo P; Radice P; Pensotti V; Dolcetti R; Bonanni B; Peissel B; Zaffaroni D; Scuvera G; Manoukian S; Varesco L; Capone GL; Papi L; Ottini L; Yannoukakos D; Konstantopoulou I; Garber J; Hamann U; Donaldson A; Brady A; Brewer C; Foo C; Evans DG; Frost D; Eccles D; Douglas F; Cook J; Adlard J; Barwell J; Walker L; Izatt L; Side LE; Kennedy MJ; Tischkowitz M; Rogers MT; Porteous ME; Morrison PJ; Platte R; Eeles R; Davidson R; Hodgson S; Cole T; Godwin AK; Isaacs C; Claes K; De Leeneer K; Meindl A; Gehrig A; Wappenschmidt B; Sutter C; Engel C; Niederacher D; Steinemann D; Plendl H; Kast K; Rhiem K; Ditsch N; Arnold N; Varon-Mateeva R; Schmutzler RK; Preisler-Adams S; Markov NB; Wang-Gohrke S; de Pauw A; Lefol C; Lasset C; Leroux D; Rouleau E; Damiola F; Dreyfus H; Barjhoux L; Golmard L; Uhrhammer N; Bonadona V; Sornin V; Bignon Y-J; Carter J; Van Le L; Piedmonte M; DiSilvestro PA; de la Hoya M; Caldes T; Nevanlinna H; Aittomaki K; Jager A; van den Ouweland AMW; Kets CM; Aalfs CM; van Leeuwen FE; Hogervorst FBL; Meijers-Heijboer HEJ; Oosterwijk JC; van Roozendaal KEP; Rookus MA; Devilee P; van der Luijt RB; Olah E; Diez O; Teule A; Lazaro C; Blanco I; Del Valle J; Jakubowska A; Sukiennicki G; Gronwald J; Lubinski J; Durda K; Jaworska-Bieniek K; Agnarsson BA; Maugard C; Amadori A; Montagna M; Teixeira MR; Spurdle AB; Foulkes W; Olswold C; Lindor NM; Pankratz VS; Szabo CI; Lincoln A; Jacobs L; Corines M; Robson M; Vijai J; Berger A; Fink-Retter A; Singer CF; Rappaport C; Kaulich DG; Pfeiler G; Tea M-K; Greene MH; Mai PL; Rennert G; Imyanitov EN; Mulligan AM; Glendon G; Andrulis IL; Tchatchou S; Toland AE; Pedersen IS; Thomassen M; Kruse TA; Jensen UB; Caligo MA; Friedman E; Zidan J; Laitman Y; Lindblom A; Melin B; Arver B; Loman N; Rosenquist R; Olopade OI; Nussbaum RL; Ramus SJ; Nathanson KL; Domchek SM; Rebbeck TR; Arun BK; Mitchell G; Karlan BY; Lester J; Orsulic S; Stoppa-Lyonnet D; Thomas G; Simard J; Couch FJ; Offit K; Easton DF; Chenevix-Trench G; Antoniou AC; Mazoyer S; Phelan CM; Sinilnikova OM; Cox DG
• Article: ONCOTARGET. 2015;6(10):7390-7407

  The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

  Fagerholm R; Schmidt MK; Khan S; Rafiq S; Tapper W; Aittomaki K; Greco D; Heikkinen T; Muranen TA; Fasching PA; Janni W; Weinshilboum R; Loehberg CR; Hopper JL; Southey MC; Keeman R; Lindblom A; Margolin S; Mannermaa A; Kataja V; Chenevix-Trench G; Lambrechts D; Wildiers H; Chang-Claude J; Seibold P; Couch FJ; Olson JE; Andrulis IL; Knight JA; Garcia-Closas M; Figueroa J; Hooning MJ; Jager A; Shah M; Perkins BJ; Luben R; Hamann U; Kabisch M; Czene K; Hall P; Easton DF; Pharoah PDP; Liu J; Eccles D; Blomqvist C; Nevanlinna H
• Doctoral thesis: 2015

  Clinical and molecular genetic characterization of congenital malformations

  Winberg J
• Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 2015;313(13):1347-1361

  Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

  Rebbeck TR; Mitra N; Wan F; Sinilnikova OM; Healey S; McGuffog L; Mazoyer S; Chenevix-Trench G; Easton DF; Antoniou AC; Nathanson KL
• Article: MOLECULAR MEDICINE. 2015;20(1):720-728

  An Entity Evolving into a Community: Defining the Common Ancestor and Evolutionary Trajectory of Chronic Lymphocytic Leukemia Stereotyped Subset #4

  Sutton L-A; Papadopoulos G; Hadzidimitriou A; Papadopoulos S; Kostareli E; Rosenquist R; Tzovaras D; Stamatopoulos K
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(11):1592-1591

  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening (vol 23, pg 1438, 2015)

  Dondorp W; de Wert G; Bombard Y; Bianchi DW; Bergmann C; Borry P; Chitty LS; Fellmann F; Forzano F; Hall A; Henneman L; Howard HC; Lucassen A; Ormond K; Peterlin B; Radojkovic D; Rogowski W; Soller M; Tibben A; Tranebjaerg L; van El CG; Cornel MC
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015

  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

  Dondorp W; de Wert G; Bombard Y; Bianchi DW; Bergmann C; Borry P; Chitty LS; Fellmann F; Forzano F; Hall A; Henneman L; Howard HC; Lucassen A; Ormond K; Peterlin B; Radojkovic D; Rogowski W; Soller M; Tibben A; Tranebjærg L; van El CG; Cornel MC
• Article: ONCOLOGY LETTERS. 2015;9(4):1782-1786

  Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

  Tzortzatos G; Aravidis C; Lindblom A; Mints M; Tham E
• Article: PLOS ONE. 2015;10(4):e0120020

  Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

  Blanco I; Kuchenbaecker K; Cuadras D; Wang X; Barrowdale D; Ruiz de Garibay G; Librado P; Sanchez-Gracia A; Rozas J; Bonifaci N; McGuffog L; Pankratz VS; Islam A; Mateo F; Berenguer A; Petit A; Catala I; Brunet J; Feliubadalo L; Tornero E; Benitez J; Osorio A; Cajal TRY; Nevanlinna H; Aittomaki K; Arun BK; Toland AE; Karlan BY; Walsh C; Lester J; Greene MH; Mai PL; Nussbaum RL; Andrulis IL; Domchek SM; Nathanson KL; Rebbeck TR; Barkardottir RB; Jakubowska A; Lubinski J; Durda K; Jaworska-Bieniek K; Claes K; Van Maerken T; Diez O; Hansen TV; Jonson L; Gerdes A-M; Ejlertsen B; de la Hoya M; Caldes T; Dunning AM; Oliver C; Fineberg E; Cook M; Peock S; McCann E; Murray A; Jacobs C; Pichert G; Lalloo F; Chu C; Dorkins H; Paterson J; Ong K-R; Teixeira MR; Teixeira; Hogervorst FBL; van der Hout AH; Seynaeve C; van der Luijt RB; Ligtenberg MJL; Devilee P; Wijnen JT; Rookus MA; Meijers-Heijboer HEJ; Blok MJ; van den Ouweland AMW; Aalfs CM; Rodriguez GC; Phillips K-AA; Piedmonte M; Nerenstone SR; Bae-Jump VL; O'Malley DM; Ratner ES; Schmutzler RK; Wappenschmidt B; Rhiem K; Engel C; Meindl A; Ditsch N; Arnold N; Plendl HJ; Niederacher D; Sutter C; Wang-Gohrke S; Steinemann D; Preisler-Adams S; Kast K; Varon-Mateeva R; Gehrig A; Bojesen A; Pedersen IS; Sunde L; Jensen UB; Thomassen M; Kruse TA; Foretova L; Peterlongo P; Bernard L; Peissel B; Scuvera G; Manoukian S; Radice P; Ottini L; Montagna M; Agata S; Maugard C; Simard J; Soucy P; Berger A; Fink-Retter A; Singer CF; Rappaport C; Geschwantler-Kaulich D; Tea M-K; Pfeiler G; John EM; Miron A; Neuhausen SL; Terry MB; Chung WK; Daly MB; Goldgar DE; Janavicius R; Dorfling CM; van Rensburg EJ; Fostira F; Konstantopoulou I; Garber J; Godwin AK; Olah E; Narod SA; Rennert G; Paluch SS; Laitman Y; Friedman E; Liljegren A; Rantala J; Stenmark-Askmalm M; Loman N; Imyanitov EN; Hamann U; Spurdle AB; Healey S; Weitzel JN; Herzog J; Margileth D; Gorrini C; Esteller M; Gomez A; Sayols S; Vidal E; Heyn H; Stoppa-Lyonnet D; Leone M; Barjhoux L; Fassy-Colcombet M; de Pauw A; Lasset C; Ferrer SF; Castera L; Berthet P; Cornelis F; Bignon Y-J; Damiola F; Mazoyer S; Sinilnikova OM; Maxwell CA; Vijai J; Robson M; Kauff N; Corines MJ; Villano D; Cunningham J; Lee A; Lindor N; Lazaro C; Easton DF; Offit K; Chenevix-Trench G; Couch FJ; Antoniou AC; Angel Pujana M
• Article: NATURE GENETICS. 2015;47(4):373-380

  Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

  Michailidou K; Beesley J; Lindstrom S; Canisius S; Dennis J; Lush MJ; Maranian MJ; Bolla MK; Wang Q; Shah M; Perkins BJ; Czene K; Eriksson M; Darabi H; Brand JS; Bojesen SE; Nordestgaard BG; Flyger H; Nielsen SF; Rahman N; Turnbull C; Fletcher O; Peto J; Gibson L; dos-Santos-Silva I; Chang-Claude J; Flesch-Janys D; Rudolph A; Eilber U; Behrens S; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Khan S; Aaltonen K; Ahsan H; Kibriya MG; Whittemore AS; John EM; Malone KE; Gammon MD; Santella RM; Ursin G; Makalic E; Schmidt DF; Casey G; Hunter DJ; Gapstur SM; Gaudet MM; Diver WR; Haiman CA; Schumacher F; Henderson BE; Le Marchand L; Berg CD; Chanock SJ; Figueroa J; Hoover RN; Lambrechts D; Neven P; Wildiers H; van Limbergen E; Schmidt MK; Broeks A; Verhoef S; Cornelissen S; Couch FJ; Olson JE; Hallberg E; Vachon C; Waisfisz Q; Meijers-Heijboer H; Adank MA; van der Luijt RB; Li J; Liu J; Humphreys K; Kang D; Choi J-Y; Park SK; Yoo K-Y; Matsuo K; Ito H; Iwata H; Tajima K; Guenel P; Truong T; Mulot C; Sanchez M; Burwinkel B; Marme F; Surowy H; Sohn C; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Gonzalez-Neira A; Benitez J; Zamora MP; Arias Perez JI; Shu X-O; Lu W; Gao Y-T; Cai H; Cox A; Cross SS; Reed MWR; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Lindblom A; Margolin S; Teo SH; Yip CH; Taib NAM; Tan G-H; Hooning MJ; Hollestelle A; Martens JWM; Collee JM; Blot W; Signorello LB; Cai Q; Hopper JL; Southey MC; Tsimiklis H; Apicella C; Shen C-Y; Hsiung C-N; Wu P-E; Hou M-F; Kristensen VN; Nord S; Alnaes GIG; Giles GG; Milne RL; McLean C; Canzian F; Trichopoulos D; Peeters P; Lund E; Sund M; Khaw K-T; Gunter MJ; Palli D; Mortensen LM; Dossus L; Huerta J-M; Meindl A; Schmutzler RK; Sutter C; Yang R; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Hartman M; Miao H; Chia KS; Chan CW; Fasching PA; Hein A; Beckmann MW; Haeberle L; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Ashworth A; Orr N; Schoemaker MJ; Swerdlow AJ; Brinton L; Garcia-Closas M; Zheng W; Halverson SL; Shrubsole M; Long J; Goldberg MS; Labreche F; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Brauch H; Hamann U; Bruening T; Radice P; Peterlongo P; Manoukian S; Bernard L; Bogdanova NV; Doerk T; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Jakubowska A; Lubinski J; Jaworska K; Huzarski T; Sangrajrang S; Gaborieau V; Brennan P; Mckay J; Slager S; Toland AE; Ambrosone CB; Yannoukakos D; Kabisch M; Torres D; Neuhausen SL; Anton-Culver H; Luccarini C; Baynes C; Ahmed S; Healey CS; Tessier DC; Vincent D; Bacot F; Pita G; Rosario Alonso M; Alvarez N; Herrero D; Simard J; Pharoah PPDP; Kraft P; Dunning AM; Chenevix-Trench G; Hall P; Easton DF
• Article: ATHEROSCLEROSIS. 2015;239(2):528-538

  Variants in ALOX5, ALOX5AP and LTA4H are not associated with atherosclerotic plaque phenotypes: The Athero-Express Genomics Study

  van der Laan SW; Asl HF; van den Borne P; van Setten J; van der Perk MEM; van de Weg SM; Schoneveld AH; de Kleijn DPV; Michoel T; Bjorkegren JLM; den Ruijter HM; Asselbergs FW; de Bakker PIW; Pasterkamp G
• Article: HAEMATOLOGICA. 2015;100(4):511-516

  Ofatumumab in poor-prognosis chronic lymphocytic leukemia: a Phase IV, non-interventional, observational study from the European Research Initiative on Chronic Lymphocytic Leukemia

  Moreno C; Montillo M; Panayiotidis P; Dimou M; Bloor A; Dupuis J; Schuh A; Norin S; Geisler C; Hillmen P; Doubek M; Trneny M; Obrtlikova P; Laurenti L; Stilgenbauer S; Smolej L; Ghia P; Cymbalista F; Jaeger U; Stamatopoulos K; Stavroyianni N; Carrington P; Zouabi H; Leblond V; Gomez-Garcia JC; Rubio M; Marasca R; Musuraca G; Rigacci L; Farina L; Paolini R; Pospisilova S; Kimby E; Bradley C; Montserrat E
• Article: CIRCULATION-GENOMIC AND PRECISION MEDICINE. 2015;8(2):305-315

  Expression Quantitative Trait Loci Acting Across Multiple Tissues Are Enriched in Inherited Risk for Coronary Artery Disease

  Asl HF; Talukdar HA; Kindt ASD; Jain RK; Ermel R; Ruusalepp A; Nguyen K-DH; Dobrin R; Reilly DF; Schunkert H; Samani NJ; Braenne I; Erdmann J; Melander O; Qi J; Ivert T; Skogsberg J; Schadt EE; Michoel T; Bjorkegren JLM
• Article: PLOS ONE. 2015;10(3):e0120176

  Sublethal Caspase Activation Promotes Generation of Cardiomyocytes from Embryonic Stem Cells

  Bulatovic I; Ibarra C; Osterholm C; Wang H; Beltran-Rodriguez A; Varas-Godoy M; Mansson-Broberg A; Uhlen P; Simon A; Grinnemo K-H
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513

  Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

  Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
• Article: JAMA PEDIATRICS. 2015;169(3):e1525

  Systematic Growth Monitoring for the Early Detection of Celiac Disease in Children

  Saari A; Harju S; Makitie O; Saha M-T; Dunkel L; Sankilampi U
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133

  No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

  Winberg J; Berggren H; Malm T; Johansson S; Ramgren JJ; Nilsson B; Lieden A; Nordenskjold A; Gustavsson P; Nordgren A
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2015;30(3):510-518

  A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis

  Laine CM; Wessman M; Toiviainen-Salo S; Kaunisto MA; Mayranpaa MK; Laine T; Pekkinen M; Kroger H; Valimaki V-V; Valimaki MJ; Lehesjoki A-E; Makitie O
• Article: CLINICAL GENETICS. 2015;87(3):273-278

  SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)

  Makitie O; Geiberger S; Horemuzova E; Hagenas L; Mostrom E; Nordenskjold M; Grigelioniene G; Nordgren A
• Article: JOURNAL OF NEUROSURGERY-PEDIATRICS. 2015;15(3):313-320

  Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates

  Arponen H; Vuorimies I; Haukka J; Valta H; Waltimo-Siren J; Makitie O
• Article: HAEMATOLOGICA. 2015;100(3):370-376

  Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting

  Sutton L-A; Ljungstrom V; Mansouri L; Young E; Cortese D; Navrkalova V; Malcikova J; Muggen AF; Trbusek M; Panagiotidis P; Davi F; Belessi C; Langerak AW; Ghia P; Pospisilova S; Stamatopoulos K; Rosenquist R
• Article: HUMAN MOLECULAR GENETICS. 2015;24(5):1478-1492

  Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

  Painter JN; O'Mara TA; Batra J; Cheng T; Lose FA; Dennis J; Michailidou K; Tyrer JP; Ahmed S; Ferguson K; Healey CS; Kaufmann S; Hillman KM; Walpole C; Moya L; Pollock P; Jones A; Howarth K; Martin L; Gorman M; Hodgson S; Magdalena Echeverry De Polanco M; Sans M; Carracedo A; Castellvi-Bel S; Rojas-Martinez A; Santos E; Teixeira MR; Carvajal-Carmona L; Shu X-O; Long J; Zheng W; Xiang Y-B; Montgomery GW; Webb PM; Scott RJ; McEvoy M; Attia J; Holliday E; Martin NG; Nyholt DR; Henders AK; Fasching PA; Hein A; Beckmann MW; Renner SP; Doerk T; Hillemanns P; Duerst M; Runnebaum I; Lambrechts D; Coenegrachts L; Schrauwen S; Amant F; Winterhoff B; Dowdy SC; Goode EL; Teoman A; Salvesen HB; Trovik J; Njolstad TS; Werner HMJ; Ashton K; Proietto T; Otton G; Tzortzatos G; Mints M; Tham E; Hall P; Czene K; Liu J; Li J; Hopper JL; Southey MC; Ekici AB; Ruebner M; Johnson N; Peto J; Burwinkel B; Marme F; Brenner H; Dieffenbach AK; Meindl A; Brauch H; Lindblom A; Depreeuw J; Moisse M; Chang-Claude J; Rudolph A; Couch FJ; Olson JE; Giles GG; Bruinsma F; Cunningham JM; Fridley BL; Borresen-Dale A-L; Kristensen VN; Cox A; Swerdlow AJ; Orr N; Bolla MK; Wang Q; Weber RP; Chen Z; Shah M; French JD; Pharoah PDP; Dunning AM; Tomlinson I; Easton DF; Edwards SL; Thompson DJ; Spurdle AB
• Letter: LEUKEMIA. 2015;29(3):748-751

  Common variation at 12q24.13 (OAS3) influences chronic lymphocytic leukemia risk

  Sava GP; Speedy HE; Di Bernardo MC; Dyer MJS; Holroyd A; Sunter NJ; Marr H; Mansouri L; Deaglios S; Karabon L; Frydecka I; Jamroziak K; Woszczyk D; Juliusson G; Smedby KE; Jayne S; Majid A; Wang Y; Dearden C; Hall AG; Mainou-Fowler T; Jackson GH; Summerfield G; Harris RJ; Pettitt AR; Allsup DJ; Bailey JR; Pratt G; Pepper C; Fegan C; Rosenquist R; Catovsky D; Allan JM; Houlston RS
• Article: CLINICAL EPIGENETICS. 2015;7(1):11

  DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

  Nordlund J; Backlin CL; Zachariadis V; Cavelier L; Dahlberg J; Ofverholm I; Barbany G; Nordgren A; Overnas E; Abrahamsson J; Flaegstad T; Heyman MM; Jonsson OG; Kanerva J; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lonnerholm G; Forestier E; Syvanen A-C
• Article: BMC CANCER. 2015;15:45

  Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.

  Cavelier L; Ameur A; Häggqvist S; Höijer I; Cahill N; Olsson-Strömberg U; Hermanson M
• Article: BREAST CANCER RESEARCH. 2015;17(1):18

  Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

  Lei J; Rudolph A; Moysich KB; Rafiq S; Behrens S; Goode EL; Pharoah PP; Seibold P; Fasching PA; Andrulis IL; Kristensen VN; Couch FJ; Hamann U; Hooning MJ; Nevanlinna H; Eilber U; Bolla MK; Dennis J; Wang Q; Lindblom A; Mannermaa A; Lambrechts D; Garcia-Closas M; Hall P; Chenevix-Trench G; Shah M; Luben R; Haeberle L; Ekici AB; Beckmann MW; Knight JA; Glendon G; Tchatchou S; Alnaes GIG; Borresen-Dale A-L; Nord S; Olson JE; Hallberg E; Vachon C; Torres D; Ulmer H-U; Ruediger T; Jager A; van Deurzen CH; Tilanus-Linthorst MM; Muranen TA; Aittomaki K; Blomqvist C; Margolin S; Kosma V-M; Hartikainen JM; Kataja V; Hatse S; Wildiers H; Smeets A; Figueroa J; Chanock SJ; Lissowska J; Li J; Humphreys K; Phillips K-A; Linn S; Cornelissen S; van den Broek SAJ; Kang D; Choi J-Y; Park SK; Yoo K-Y; Hsiung C-N; Wu P-E; Hou M-F; Shen C-Y; Teo SH; Taib NAM; Yip CH; Ho GF; Matsuo K; Ito H; Iwata H; Tajima K; Dunning AM; Benitez J; Czene K; Sucheston LE; Maishman T; Tapper WJ; Eccles D; Easton DF; Schmidt MK; Chang-Claude J
• Article: LEUKEMIA. 2015;29(2):369-376

  A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR

  White H; Deprez L; Corbisier P; Hall V; Lin F; Mazoua S; Trapmann S; Aggerholm A; Andrikovics H; Akiki S; Barbany G; Boeckx N; Bench A; Catherwood M; Cayuela J-M; Chudleigh S; Clench T; Colomer D; Daraio F; Dulucq S; Farrugia J; Fletcher L; Foroni L; Ganderton R; Gerrard G; Gineikiene E; Hayette S; El Housni H; Izzo B; Jansson M; Johnels P; Jurcek T; Kairisto V; Kizilors A; Kim D-W; Lange T; Lion T; Polakova KM; Martinelli G; McCarron S; Merle PA; Milner B; Mitterbauer-Hohendanner G; Nagar M; Nickless G; Nomdedeu J; Nymoen DA; Leibundgut EO; Ozbek U; Pajic T; Pfeifer H; Preudhomme C; Raudsepp K; Romeo G; Sacha T; Talmaci R; Touloumenidou T; Van der Velden VHJ; Waits P; Wang L; Wilkinson E; Wilson G; Wren D; Zadro R; Ziermann J; Zoi K; Mueller MC; Hochhaus A; Schimmel H; Cross NCP; Emons H
• Article: LEUKEMIA. 2015;29(2):329-336

  Recurrent mutations refine prognosis in chronic lymphocytic leukemia

  Baliakas P; Hadzidimitriou A; Sutton L-A; Rossi D; Minga E; Villamor N; Larrayoz M; Kminkova J; Agathangelidis A; Davis Z; Tausch E; Stalika E; Kantorova B; Mansouri L; Scarfo L; Cortese D; Navrkalova V; Rose-Zerilli MJJ; Smedby KE; Juliusson G; Anagnostopoulos A; Makris AM; Navarro A; Delgado J; Oscier D; Belessi C; Stilgenbauer S; Ghia P; Pospisilova S; Gaidano G; Campo E; Strefford JC; Stamatopoulos K; Rosenquist R
• Review: LEUKEMIA & LYMPHOMA. 2015;56(2):301-310

  Splenic marginal-zone lymphoma: ontogeny and genetics.

  Baliakas P; Strefford JC; Bikos V; Parry M; Stamatopoulos K; Oscier D
• Article: CARCINOGENESIS. 2015;36(2):256-271

  Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

  Kabisch M; Bermejo JL; Duennebier T; Ying S; Michailidou K; Bolla MK; Wang Q; Dennis J; Shah M; Perkins BJ; Czene K; Darabi H; Eriksson M; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Lambrechts D; Neven P; Peeters S; Weltens C; Couch FJ; Olson JE; Wang X; Purrington K; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Peto J; dos-Santos-Silva I; Johnson N; Fletcher O; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Schmidt MK; Broeks A; Cornelissen S; Hogervorst FBL; Li J; Brand JS; Humphreys K; Guenel P; Truong T; Menegaux F; Sanchez M; Burwinkel B; Marme F; Yang R; Bugert P; Gonzalez-Neira A; Benitez J; Pilar Zamora M; Arias Perez JI; Cox A; Cross SS; Reed MWR; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Haiman CA; Schumacher F; Henderson BE; Le Marchand L; Lindblom A; Margolin S; Hooning MJ; Hollestelle A; Kriege M; Koppert LB; Hopper JL; Southey MC; Tsimiklis H; Apicella C; Slettedahl S; Toland AE; Vachon C; Yannoukakos D; Giles GG; Milne RL; McLean C; Fasching PA; Ruebner M; Ekici AB; Beckmann MW; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Ashworth A; Orr N; Schoemaker MJ; Swerdlow A; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Goldberg MS; Labreche F; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Brauch H; Bruening T; Ko Y-D; Radice P; Peterlongo P; Scuvera G; Fortuzzi S; Bogdanova N; Doerk T; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Zheng W; Shrubsole MJ; Cai Q; Torres D; Anton-Culver H; Kristensen V; Bacot F; Tessier DC; Vincent D; Luccarini C; Baynes C; Ahmed S; Maranian M; Simard J; Chenevix-Trench G; Hall P; Pharoah PDP; Dunning AM; Easton DF; Hamann U
• Article: NATURE GENETICS. 2015;47(2):164-171

  Identification of six new susceptibility loci for invasive epithelial ovarian cancer

  Kuchenbaecker KB; Ramus SJ; Tyrer J; Lee A; Shen HC; Beesley J; Lawrenson K; McGuffog L; Healey S; Lee JM; Spindler TJ; Lin YG; Pejovic T; Bean Y; Li Q; Coetzee S; Hazelett D; Miron A; Southey M; Terry MB; Goldgar DE; Buys SS; Janavicius R; Dorfling CM; van Rensburg EJ; Neuhausen SL; Ding YC; Hansen TVO; Jonson L; Gerdes A-M; Ejlertsen B; Barrowdale D; Dennis J; Benitez J; Osorio A; Garcia MJ; Komenaka I; Weitzel JN; Ganschow P; Peterlongo P; Bernard L; Viel A; Bonanni B; Peissel B; Manoukian S; Radice P; Papi L; Ottini L; Fostira F; Konstantopoulou I; Garber J; Frost D; Perkins J; Platte R; Ellis S; Godwin AK; Schmutzler RK; Meindl A; Engel C; Sutter C; Sinilnikova OM; Damiola F; Mazoyer S; Stoppa-Lyonnet D; Claes K; De Leeneer K; Kirk J; Rodriguez GC; Piedmonte M; O'Malley DM; de la Hoya M; Caldes T; Aittomaeki K; Nevanlinna H; Collee JM; Rookus MA; Oosterwijk JC; Tihomirova L; Tung N; Hamann U; Isaccs C; Tischkowitz M; Imyanitov EN; Caligo MA; Campbell IG; Hogervorst FBL; Olah E; Diez O; Blanco I; Brunet J; Lazaroso C; Angel Pujana M; Jakubowska A; Gronwald J; Lubinski J; Sukiennicki G; Barkardottir RB; Plante M; Simard J; Soucy P; Montagna M; Tognazzo S; Teixeira MR; Pankratz VS; Wang X; Lindor N; Szabo CI; Kauff N; Vijai J; Aghajanian CA; Pfeiler G; Berger A; Singer CF; Tea M-K; Phelan CM; Greene MH; Mai PL; Rennert G; Mulligan AM; Tchatchou S; Andrulis IL; Glendon G; Toland AE; Jensen UB; Kruse TA; Thomassen M; Bojesen A; Zidan J; Friedman E; Laitman Y; Soller M; Liljegren A; Arver B; Einbeigi Z; Stenmark-Askmalm M; Olopade OI; Nussbaum RL; Rebbeck TR; Nathanson KL; Domchek SM; Lu KH; Karlan BY; Walsh C; Lester J; Hein A; Ekici AB; Beckmann MW; Fasching PA; Lambrechts D; Van Nieuwenhuysen E; Vergote I; Lambrechts S; Dicks E; Doherty JA; Wicklund KG; Rossing MA; Rudolph A; Chang-Claude J; Wang-Gohrke S; Eilber U; Moysich KB; Odunsi K; Sucheston L; Lele S; Wilkens LR; Goodman MT; Thompson PJ; Shvetsov YB; Runnebaum IB; Duerst M; Hillemanns P; Doerk T; Antonenkova N; Bogdanova N; Leminen A; Pelttari LM; Butzow R; Modugno F; Kelley JL; Edwards RP; Ness RB; du Bois A; Heitz F; Schwaab I; Harter P; Matsuo K; Hosono S; Orsulic S; Jensen A; Kjaer SK; Hogdall E; Hasmad HN; Azmi MAN; Teo S-H; Woo Y-L; Fridley BL; Goode EL; Cunningham JM; Vierkant RA; Bruinsma F; Giles GG; Liang D; Hildebrandt MAT; Wu X; Levine DA; Bisogna M; Berchuck A; Iversen ES; Schildkraut JM; Concannon P; Weber RP; Cramer DW; Terry KL; Poole EM; Tworoger SS; Bandera EV; Orlow I; Olson SH; Krakstad C; Salvesen HB; Tangen IL; Bjorge L; van Altena AM; Aben KKH; Kiemeney LA; Massuger LFAG; Kellar M; Brooks-Wilson A; Kelemen LE; Cook LS; Le ND; Cybulski C; Yang H; Lissowska J; Brinton LA; Wentzensen N; Hogdall C; Lundvall L; Nedergaard L; Baker H; Song H; Eccles D; McNeish I; Paul J; Carty K; Siddiqui N; Glasspool R; Whittemore AS; Rothstein JH; McGuire V; Sieh W; Ji B-T; Zheng W; Shu X-O; Gao Y-T; Rosen B; Risch HA; McLaughlin JR; Narod SA; Monteiro AN; Chen A; Lin H-Y; Permuth-Wey J; Sellers TA; Tsai Y-Y; Chen Z; Ziogas A; Anton-Culver H; Gentry-Maharaj A; Menon U; Harrington P; Lee AW; Wu AH; Pearce CL; Coetzee G; Pike MC; Dansonka-Mieszkowska A; Timorek A; Rzepecka IK; Kupryjanczyk J; Freedman M; Noushmehr H; Easton DF; Offit K; Couch FJ; Gayther S; Pharoah PP; Antoniou AC; Chenevix-Trench G
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2015;33(4):319-325

  Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

  ten Broeke SW; Brohet RM; Tops CM; van der Klift HM; Velthuizen ME; Bernstein I; Capella Munar G; Garcia EG; Hoogerbrugge N; Letteboer TGW; Menko FH; Lindblom A; Mensenkamp AR; Moller P; Van Os TA; Rahner N; Redeker BJW; Sijmons RH; Spruijt L; Suerink M; Vos YJ; Wagner A; Hes FJ; Vasen HF; Nielsen M; Wijnen JT
• Article: HUMAN GENETICS. 2015;134(2):231-245

  Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

  Carvajal-Carmona LG; O'Mara TA; Painter JN; Lose FA; Dennis J; Michailidou K; Tyrer JP; Ahmed S; Ferguson K; Healey CS; Pooley K; Beesley J; Cheng T; Jones A; Howarth K; Martin L; Gorman M; Hodgson S; Wentzensen N; Fasching PA; Hein A; Beckmann MW; Renner SP; Doerk T; Hillemanns P; Duerst M; Runnebaum I; Lambrechts D; Coenegrachts L; Schrauwen S; Amant F; Winterhoff B; Dowdy SC; Goode EL; Teoman A; Salvesen HB; Trovik J; Njolstad TS; Werner HMJ; Scott RJ; Ashton K; Proietto T; Otton G; Wersaell O; Mints M; Tham E; Hall P; Czene K; Liu J; Li J; Hopper JL; Southey MC; Ekici AB; Ruebner M; Johnson N; Peto J; Burwinkel B; Marme F; Brenner H; Dieffenbach AK; Meindl A; Brauch H; Lindblom A; Depreeuw J; Moisse M; Chang-Claude J; Rudolph A; Couch FJ; Olson JE; Giles GG; Bruinsma F; Cunningham JM; Fridley BL; Borresen-Dale A-L; Kristensen VN; Cox A; Swerdlow AJ; Orr N; Bolla MK; Wang Q; Weber RP; Chen Z; Shah M; Pharoah PDP; Dunning AM; Tomlinson I; Easton DF; Spurdle AB; Thompson DJ
• Article: BONE. 2015;71:124-130

  FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents

  Pekkinen M; Laine CM; Makitie R; Leinonen E; Lamberg-Allardt C; Viljakainen H; Makitie O
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2015;167(2):271-281

  Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

  Gripp KW; Robbins KM; Sobreira NL; Witmer PD; Bird LM; Avela K; Makitie O; Alves D; Hogue JS; Zackai EH; Doheny KF; Stabley DL; Sol-Church K
• Article: BLOOD. 2015;125(5):856-859

  Not all IGHV3-21 chronic lymphocytic leukemias are equal: prognostic considerations

  Baliakas P; Agathangelidis A; Hadzidimitriou A; Sutton L-A; Minga E; Tsanousa A; Scarfo L; Davis Z; Yan X-J; Shanafelt T; Plevova K; Sandberg Y; Vojdeman FJ; Boudjogra M; Tzenou T; Chatzouli M; Chu CC; Veronese S; Gardiner A; Mansouri L; Smedby KE; Pedersen LB; Moreno D; Van Lom K; Giudicelli V; Francova HS; Nguyen-Khac F; Panagiotidis P; Juliusson G; Angelis L; Anagnostopoulos A; Lefranc M-P; Facco M; Trentin L; Catherwood M; Montillo M; Geisler CH; Langerak AW; Pospisilova S; Chiorazzi N; Oscier D; Jelinek DF; Darzentas N; Belessi C; Davi F; Ghia P; Rosenquist R; Stamatopoulos K
• Article: SCIENCE. 2015;347(6220):1260419

  Tissue-based map of the human proteome

  Uhlen M; Fagerberg L; Hallstroem BM; Lindskog C; Oksvold P; Mardinoglu A; Sivertsson A; Kampf C; Sjoestedt E; Asplund A; Olsson I; Edlund K; Lundberg E; Navani S; Szigyarto CA-K; Odeberg J; Djureinovic D; Takanen JO; Hober S; Alm T; Edqvist P-H; Berling H; Tegel H; Mulder J; Rockberg J; Nilsson P; Schwenk JM; Hamsten M; von Feilitzen K; Forsberg M; Persson L; Johansson F; Zwahlen M; von Heijne G; Nielsen J; Ponten F
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(1):5-20

  Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

  Glubb DM; Maranian MJ; Michailidou K; Pooley KA; Meyer KB; Kar S; Carlebur S; O'Reilly M; Betts JA; Hillman KM; Kaufmann S; Beesley J; Canisius S; Hopper JL; Southey MC; Tsimiklis H; Apicella C; Schmidt MK; Broeks A; Hogervorst FB; van der Schoot CE; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Fasching PA; Ruebner M; Ekici AB; Beckmann MW; Peto J; Dos-Santos-Silva I; Fletcher O; Johnson N; Pharoah PDP; Bolla MK; Wang Q; Dennis J; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Burwinkel B; Marme F; Yang R; Surowy H; Guenel P; Truong T; Menegaux F; Sanchez M; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Gonzalez-Neira A; Benitez J; Pilar Zamora M; Arias Perez JI; Anton-Culver H; Neuhausen SL; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Meindl A; Schmutzler RK; Brauch H; Ko Y-D; Bruening T; Nevanlinna H; Muranen TA; Aittomaeki K; Blomqvist C; Matsuo K; Ito H; Iwata H; Tanaka H; Doerk T; Bogdanova NV; Helbig S; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Lambrechts D; Zhao H; Weltens C; van Limbergen E; Chang-Claude J; Flesch-Janys D; Rudolph A; Seibold P; Radice P; Peterlongo P; Barile M; Capra F; Couch FJ; Olson JE; Hallberg E; Vachon C; Giles GG; Milne RL; McLean C; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Teo SH; Yip CH; See M-H; Cornes B; Cheng C-Y; Ikram MK; Kristensen V; Zheng W; Halverson SL; Shrubsole M; Long J; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Kauppila S; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Czene K; Klevebring D; Darabi H; Eriksson M; Hooning MJ; Hollestelle A; Martens JWM; Collee JM; Hall P; Li J; Humphreys K; Shu X-O; Lu W; Gao Y-T; Cai H; Cox A; Cross SS; Reed MWR; Blot W; Signorello LB; Cai Q; Shah M; Ghoussaini M; Kang D; Choi J-Y; Park SK; Noh D-Y; Hartman M; Miao H; Lim WY; Tang A; Hamann U; Torres D; Jakubowska A; Lubinski J; Jaworska K; Durda K; Sangrajrang S; Gaborieau V; Brennan P; McKay J; Olswold C; Slager S; Toland AE; Yannoukakos D; Shen C-Y; Wu P-E; Yu J-C; Hou M-F; Swerdlow A; Ashworth A; Orr N; Jones M; Pita G; Rosario Alonso M; Alvarez N; Herrero D; Tessier DC; Vincent D; Bacot F; Luccarini C; Baynes C; Ahmed S; Healey CS; Brown MA; Ponder BAJ; Chenevix-Trench G; Thompson DJ; Edwards SL; Easton DF; Dunning AM; French JD
• Article: ONCOGENE. 2015;34(2):209-216

  TRAF2 is an NF-κB-activating oncogene in epithelial cancers

  Shen RR; Zhou AY; Kim E; O'Connell JT; Hagerstrand D; Beroukhim R; Hahn WC
• Review: EXPERT REVIEW OF HEMATOLOGY. 2015;8(1):71-78

  Clonal evolution in chronic lymphocytic leukemia: impact of subclonality on disease progression

  Sutton L-A; Rosenquist R
• Review: HAEMATOLOGICA. 2015;100(1):7-16

  Deciphering the molecular landscape in chronic lymphocytic leukemia: time frame of disease evolution

  Sutton L-A; Rosenquist R
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2015;24(1):308-316

  Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

  Peterlongo P; Chang-Claude J; Moysich KB; Rudolph A; Schmutzler RK; Simard J; Soucy P; Eeles RA; Easton DF; Hamann U; Wilkening S; Chen B; Rookus MA; Schmidt M; van der Baan FH; Spurdle AB; Walker LC; Lose F; Maia A-T; Montagna M; Matricardi L; Lubinski J; Jakubowska A; Garcia EBG; Olopade OI; Nussbaum RL; Nathanson KL; Domchek SM; Rebbeck TR; Arun BK; Karlan BY; Orsulic S; Lester J; Chung WK; Miron A; Southey MC; Goldgar DE; Buys SS; Janavicius R; Dorfling CM; van Rensburg EJ; Ding YC; Neuhausen SL; Hansen TVO; Gerdes A-M; Ejlertsen B; Jonson L; Osorio A; Martinez-Bouzas C; Benitez J; Conway EE; Blazer KR; Weitzel JN; Manoukian S; Peissel B; Zaffaroni D; Scuvera G; Barile M; Ficarazzi F; Mariette F; Fortuzzi S; Viel A; Giannini G; Papi L; Martayan A; Tibiletti MG; Radice P; Vratimos A; Fostira F; Garber JE; Donaldson A; Brewer C; Foo C; Evans DGR; Frost D; Eccles D; Brady A; Cook J; Tischkowitz M; Adlard J; Barwell J; Walker L; Izatt L; Side LE; Kennedy MJ; Rogers MT; Porteous ME; Morrison PJ; Platte R; Davidson R; Hodgson SV; Ellis S; Cole T; Godwin AK; Claes K; Van Maerken T; Meindl A; Gehrig A; Sutter C; Engel C; Niederacher D; Steinemann D; Plendl H; Kast K; Rhiem K; Ditsch N; Arnold N; Varon-Mateeva R; Wappenschmidt B; Wang-Gohrke S; Bressac-de Paillerets B; Buecher B; Delnatte C; Houdayer C; Stoppa-Lyonnet D; Damiola F; Coupier I; Barjhoux L; Venat-Bouvet L; Golmard L; Boutry-Kryza N; Sinilnikova OM; Caron O; Pujol P; Mazoyer S; Belotti M; Piedmonte M; Friedlander ML; Rodriguez GC; Copeland LJ; de la Hoya M; Perez Segura P; Nevanlinna H; Aittomaeki K; van Os TAM; Meijers-Heijboer HEJ; van der Hout AH; Vreeswijk MPG; Hoogerbrugge N; Ausems MGEM; van Doorn HC; Collee JM; Olah E; Diez O; Blanco I; Lazaro C; Brunet J; Feliubadalo L; Cybulski C; Gronwald J; Durda K; Jaworska-Bieniek K; Sukiennicki G; Arason A; Chiquette J; Teixeira MR; Olswold C; Couch FJ; Lindor NM; Wang X; Szabo CI; Offit K; Corines M; Jacobs L; Robson ME; Zhang L; Joseph V; Berger A; Singer CF; Rappaport C; Kaulich DG; Pfeiler G; Tea M-KM; Phelan CM; Greene MH; Mai PL; Rennert G; Mulligan AM; Glendon G; Tchatchou S; Andrulis IL; Toland AE; Bojesen A; Pedersen IS; Thomassen M; Jensen UB; Laitman Y; Rantala J; von Wachenfeldt A; Ehrencrona H; Askmalm MS; Borg A; Kuchenbaecker KB; McGuffog L; Barrowdale D; Healey S; Lee A; Pharoah PDP; Chenevix-Trench G; Antoniou AC; Friedman E
• Review: HORMONE RESEARCH IN PAEDIATRICS. 2015;84(6):361-369

  New Genetic Forms of Childhood-Onset Primary Osteoporosis

  Kampe AJ; Makitie RE; Makitie O
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;84(2):108-115

  Increased Body Adiposity and Serum Leptin Concentrations in Very Long-Term Adult Male Survivors of Childhood Acute Lymphoblastic Leukemia

  Jahnukainen K; Heikkinen R; Henriksson M; Andersson S; Ivaska KK; Puukko-Viertomies L-R; Makitie O
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;83(5):361-364

  Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

  Reynaert N; Ockeloen CW; Savendahl L; Beckers D; Devriendt K; Kleefstra T; Carels CEL; Grigelioniene G; Nordgren A; Francois I; de Zegher F; Casteels K
• Article: HUMAN MOLECULAR GENETICS. 2015;24(1):285-298

  Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

  Lin W-Y; Camp NJ; Ghoussaini M; Beesley J; Michailidou K; Hopper JL; Apicella C; Southey MC; Stone J; Schmidt MK; Broeks A; Van't Veer LJ; Rutgers EJT; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Peto J; Dos-Santos-Silva I; Fletcher O; Johnson N; Bolla MK; Wang Q; Dennis J; Sawyer EJ; Cheng T; Tomlinson I; Kerin MJ; Miller N; Marme F; Surowy HM; Burwinkel B; Guenel P; Truong T; Menegaux F; Mulot C; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Benitez J; Zamora MP; Arias Perez JI; Menendez P; Gonzalez-Neira A; Pita G; Rosario Alonso M; Alvarez N; Herrera D; Anton-Culver H; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Meindl A; Lichtner P; Schmutzler RK; Mueller-Myhsok B; Brauch H; Bruening T; Ko Y-D; Tessier DC; Vincent D; Bacot F; Nevanlinna H; Aittomaeki K; Blomqvist C; Khan S; Matsuo K; Ito H; Iwata H; Horio A; Bogdanova NV; Antonenkova NN; Doerk T; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Neven P; Wauters E; Wildiers H; Lambrechts D; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Radice P; Peterlongo P; Manoukian S; Bonanni B; Couch FJ; Wang X; Vachon C; Purrington K; Giles GG; Milne RL; Mclean C; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Teo SH; Yip CH; Hassan N; Vithana EN; Kristensen V; Zheng W; Deming-Halverson S; Shrubsole MJ; Long J; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Kauppila S; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Garcia-Closas M; Figueroa J; Lissowska J; Brinton L; Czene K; Darabi H; Eriksson M; Brand JS; Hooning MJ; Hollestelle A; Van den Ouweland AMW; Jager A; Li J; Liu J; Humphreys K; Shu X-O; Lu W; Gao Y-T; Cai H; Cross SS; Reed MWR; Blot W; Signorello LB; Cai Q; Pharoah PDP; Perkins B; Shah M; Blows FM; Kang D; Yoo K-Y; Noh D-Y; Hartman M; Miao H; Chia KS; Putti TC; Hamann U; Luccarini C; Baynes C; Ahmed S; Maranian M; Healey CS; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Sangrajrang S; Gaborieau V; Brennan P; Mckay J; Slager S; Toland AE; Yannoukakos D; Shen C-Y; Hsiung C-N; Wu P-E; Ding S-L; Ashworth A; Jones M; Orr N; Swerdlow AJ; Tsimiklis H; Makalic E; Schmidt DF; Bui QM; Chanock SJ; Hunter DJ; Hein R; Dahmen N; Beckmann L; Aaltonen K; Muranen TA; Heikkinen T; Irwanto A; Rahman N; Turnbull CA; Waisfisz Q; Meijers-Heijboer HEJ; Adank MA; Van der Luijt RB; Hall P; Chenevix-Trench G; Dunning A; Easton DF; Cox A
• Article: JOURNAL OF PEDIATRIC ORTHOPAEDICS. 2015;35(1):100-103

  Congenital Constriction Band Syndrome With Limb Defects

  Koskimies E; Syvanen J; Nietosvaara Y; Makitie O; Pakkasjarvi N
• Article: IMMUNOGENETICS. 2015;67(1):61-66

  Immunoglobulin heavy variable (IGHV) genes and alleles: new entities, new names and implications for research and prognostication in chronic lymphocytic leukaemia

  Xochelli A; Agathangelidis A; Kavakiotis I; Minga E; Sutton LA; Baliakas P; Chouvarda I; Giudicelli V; Vlahavas I; Maglaveras N; Bonello L; Trentin L; Tedeschi A; Panagiotidis P; Geisler C; Langerak AW; Pospisilova S; Jelinek DF; Oscier D; Chiorazzi N; Darzentas N; Davi F; Ghia P; Rosenquist R; Hadzidimitriou A; Belessi C; Lefranc M-P; Stamatopoulos K
• Article: ENVIRONMENTAL MICROBIOLOGY. 2015;17(1):119-133

  Transcriptional and translational control through the 5′-leader region of the dmpR master regulatory gene of phenol metabolism

  Madhushani A; del Peso-Santos T; Moreno R; Rojo F; Shingler V
• Article: BREAST CANCER RESEARCH. 2014;16(6):3416

  Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

  Kuchenbaecker KB; Neuhausen SL; Robson M; Barrowdale D; McGuffog L; Mulligan AM; Andrulis IL; Spurdle AB; Schmidt MK; Schmutzler RK; Engel C; Wappenschmidt B; Nevanlinna H; Thomassen M; Southey M; Radice P; Ramus SJ; Domchek SM; Nathanson KL; Lee A; Healey S; Nussbaum RL; Rebbeck TR; Arun BK; James P; Karlan BY; Lester J; Cass I; Terry MB; Daly MB; Goldgar DE; Buys SS; Janavicius R; Tihomirova L; Tung N; Dorfling CM; van Rensburg EJ; Steele L; Hansen TVO; Ejlertsen B; Gerdes A-M; Nielsen FC; Dennis J; Cunningham J; Hart S; Slager S; Osorio A; Benitez J; Duran M; Weitzel JN; Tafur I; Hander M; Peterlongo P; Manoukian S; Peissel B; Roversi G; Scuvera G; Bonanni B; Mariani P; Volorio S; Dolcetti R; Varesco L; Papi L; Tibiletti MG; Giannini G; Fostira F; Konstantopoulou I; Garber J; Hamann U; Donaldson A; Brewer C; Foo C; Evans DG; Frost D; Eccles D; Douglas F; Brady A; Cook J; Tischkowitz M; Adlard J; Barwell J; Ong K-R; Walker L; Izatt L; Side LE; Kennedy MJ; Rogers MT; Porteous ME; Morrison PJ; Platte R; Eeles R; Davidson R; Hodgson S; Ellis S; Godwin AK; Rhiem K; Meindl A; Ditsch N; Arnold N; Plendl H; Niederacher D; Sutter C; Steinemann D; Bogdanova-Markov N; Kast K; Varon-Mateeva R; Wang-Gohrke S; Gehrig A; Markiefka B; Buecher B; Lefol C; Stoppa-Lyonnet D; Rouleau E; Prieur F; Damiola F; Barjhoux L; Faivre L; Longy M; Sevenet N; Sinilnikova OM; Mazoyer S; Bonadona V; Caux-Moncoutier V; Isaacs C; Van Maerken T; Claes K; Piedmonte M; Andrews L; Hays J; Rodriguez GC; Caldes T; de la Hoya M; Khan S; Hogervorst FBL; Aalfs CM; de lange JL; Meijers-Heijboer HEJ; van der Hout AH; Wijnen JT; van Roozendaal KEP; Mensenkamp AR; van den Ouweland AMW; van Deurzen CHM; van der Luijt RB; Olah E; Diez O; Lazaro C; Blanco I; Teule A; Menendez M; Jakubowska A; Lubinski J; Cybulski C; Gronwald J; Jaworska-Bieniek K; Durda K; Arason A; Maugard C; Soucy P; Montagna M; Agata S; Teixeira MR; Olswold C; Lindor N; Pankratz VS; Hallberg E; Wang X; Szabo CI; Vijai J; Jacobs L; Corines M; Lincoln A; Berger A; Fink-Retter A; Singer CF; Rappaport C; Kaulich DG; Pfeiler G; Tea M-K; Phelan CM; Mai PL; Greene MH; Rennert G; Imyanitov EN; Glendon G; Toland AE; Bojesen A; Pedersen IS; Jensen UB; Caligo MA; Friedman E; Berger R; Laitman Y; Rantala J; Arver B; Loman N; Borg A; Ehrencrona H; Olopade OI; Simard J; Easton DF; Chenevix-Trench G; Offit K; Couch FJ; Antoniou AC
• Article: BREAST CANCER RESEARCH. 2014;16(6):3419

  Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

  Spurdle AB; Couch FJ; Parsons MT; McGuffog L; Barrowdale D; Bolla MK; Wang Q; Healey S; Schmutzler RK; Wappenschmidt B; Rhiem K; Hahnen E; Engel C; Meindl A; Ditsch N; Arnold N; Plendl H; Niederacher D; Sutter C; Wang-Gohrke S; Steinemann D; Preisler-Adams S; Kast K; Varon-Mateeva R; Ellis S; Frost D; Platte R; Perkins J; Evans DG; Izatt L; Eeles R; Adlard J; Davidson R; Cole T; Scuvera G; Manoukian S; Bonanni B; Mariette F; Fortuzzi S; Viel A; Pasini B; Papi L; Varesco L; Balleine R; Nathanson KL; Domchek SM; Offitt K; Jakubowska A; Lindor N; Thomassen M; Jensen UB; Rantala J; Borg A; Andrulis IL; Miron A; Hansen TVO; Caldes T; Neuhausen SL; Toland AE; Nevanlinna H; Montagna M; Garber J; Godwin AK; Osorio A; Factor RE; Terry MB; Rebbeck TR; Karlan BY; Southey M; Rashid MU; Tung N; Pharoah PDP; Blows FM; Dunning AM; Provenzano E; Hall P; Czene K; Schmidt MK; Broeks A; Cornelissen S; Verhoef S; Fasching PA; Beckmann MW; Ekici AB; Slamon DJ; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Chang-Claude J; Flesch-Janys D; Rudolph A; Seibold P; Aittomaki K; Muranen TA; Heikkila P; Blomqvist C; Figueroa J; Chanock SJ; Brinton L; Lissowska J; Olson JE; Pankratz VS; John EM; Whittemore AS; West DW; Hamann U; Torres D; Ulmer HU; Rudiger T; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Eccles DM; Tapper WJ; Durcan L; Jones L; Peto J; dos-Santos-Silva I; Fletcher O; Johnson N; Dwek M; Swann R; Bane AL; Glendon G; Mulligan AM; Giles GG; Milne RL; Baglietto L; McLean C; Carpenter J; Clarke C; Scott R; Brauch H; Bruning T; Ko Y-D; Cox A; Cross SS; Reed MWR; Lubinski J; Jaworska-Bieniek K; Durda K; Gronwald J; Dork T; Bogdanova N; Park-Simon T-W; Hillemanns P; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Burwinkel B; Marme F; Surovy H; Yang R; Anton-Culver H; Ziogas A; Hooning MJ; Collee JM; Martens JWM; Tilanus-Linthorst MMA; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Lindblom A; Margolin S; Joseph V; Robson M; Rau-Murthy R; Gonzalez-Neira A; Arias JI; Zamora P; Benitez J; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Peterlongo P; Zaffaroni D; Barile M; Capra F; Radice P; Teo SH; Easton DF; Antoniou AC; Chenevix-Trench G; Goldgar DE
• Article: BMC MUSCULOSKELETAL DISORDERS. 2014;15:428

  Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study

  Arponen H; Makitie O; Waltimo-Siren J
• Conference publication: BLOOD. 2014;124(21):1085

  Novel Focal Gene Deletions in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia Detected By Array Comparative Genomic Hybridization

  Ofverholm II; Anh NT; Zachariadis V; Heyman M; Rudd E; Lundberg ES; Nordenskjold M; Nordgren A; Barbany G
• Conference publication: BLOOD. 2014;124(21):490

  DNA Methylation-Based Subtype Prediction for Pediatric Acute Lymphoblastic Leukemia (ALL)

  Nordlund J; Backlin C; Zachariadis V; Cavelier L; Dahlberg J; Ofverholm I; Barbany G; Nordgren A; Overnas E; Abrahamsson J; Flaegstad T; Heyman M; Jonsson OG; Kanerva JA; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lonnerholm G; Forestier E; Syvanen A-C
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2014;167(5):671-680

  Impact of ABCB1 single nucleotide polymorphisms 1236C>T and 2677G>T on overall survival in FLT3 wild-type de novo AML patients with normal karyotype

  Falk IJ; Fyrberg A; Paul E; Nahi H; Hermanson M; Rosenquist R; Hoglund M; Palmqvist L; Stockelberg D; Wei Y; Green H; Lotfi K
• Article: JOURNAL OF RHEUMATOLOGY. 2014;41(12):2474-2481

  High Adiposity and Serum Leptin Accompanied by Altered Bone Turnover Markers in Severe Juvenile Idiopathic Arthritis

  Markula-Patjas KP; Ivaska KK; Pekkinen M; Andersson S; Moilanen E; Viljakainen HT; Makitie O
• Article: STEM CELLS TRANSLATIONAL MEDICINE. 2014;3(12):1484-1494

  Multipotent Mesenchymal Stromal Cells Synergize With Costimulation Blockade in the Inhibition of Immune Responses and the Induction of Foxpr Regulatory T Cells

  Takahashi T; Tibell A; Ljung K; Saito Y; Gronlund A; Osterholm C; Holgersson J; Lundgren T; Ericzon B-G; Corbascio M; Kumagai-Braesch M
• Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2014;14(12):2838-2845

  Donor or recipient origin of posttransplant lymphoproliferative disorders following solid organ transplantation.

  Kinch A; Cavelier L; Bengtsson M; Baecklund E; Enblad G; Backlin C; Thunberg U; Sundström C; Pauksens K
• Article: ANNALS OF THE RHEUMATIC DISEASES. 2014;73(12):2130-2136

  A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

  Evangelou E; Kerkhof HJ; Styrkarsdottir U; Ntzani EE; Bos SD; Esko T; Evans DS; Metrustry S; Panoutsopoulou K; Ramos YFM; Thorleifsson G; Tsilidis KK; Arden N; Aslam N; Bellamy N; Birrell F; Blanco FJ; Carr A; Chapman K; Day-Williams AG; Deloukas P; Doherty M; Engstrom G; Helgadottir HT; Hofman A; Ingvarsson T; Jonsson H; Keis A; Keurentjes JC; Kloppenburg M; Lind PA; McCaskie A; Martin NG; Milani L; Montgomery GW; Nelissen RGHH; Nevitt MC; Nilsson PM; Ollier WER; Parimi N; Rai A; Ralston SH; Reed MR; Riancho JA; Rivadeneira F; Rodriguez-Fontenla C; Southam L; Thorsteinsdottir U; Tsezou A; AWallis G; Wilkinson JM; Gonzalez A; Lane NE; Lohmander LS; Loughlin J; Metspalu A; Uitterlinden AG; Jonsdottir I; Stefansson K; Slagboom PE; Zeggini E; Meulenbelt I; Ioannidis JPA; Spector TD; van Meurs JBJ; Valdes AM
• Article: HUMAN MOLECULAR GENETICS. 2014;23(22):6034-6046

  Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

  Purrington KS; Slettedahl S; Bolla MK; Michailidou K; Czene K; Nevanlinna H; Bojesen SE; Andrulis IL; Cox A; Hall P; Carpenter J; Yannoukakos D; Haiman CA; Fasching PA; Mannermaa A; Winqvist R; Brenner H; Lindblom A; Chenevix-Trench G; Benitez J; Swerdlow A; Kristensen V; Guenel P; Meindl A; Darabi H; Eriksson M; Fagerholm R; Aittomaki K; Blomqvist C; Nordestgaard BG; Nielsen SF; Flyger H; Wang X; Olswold C; Olson JE; Mulligan AM; Knight JA; Tchatchou S; Reed MWR; Cross SS; Liu J; Li J; Humphreys K; Clarke C; Scott R; Fostira F; Fountzilas G; Konstantopoulou I; Henderson BE; Schumacher F; Le Marchand L; Ekici AB; Hartmann A; Beckmann MW; Hartikainen JM; Kosma V-M; Kataja V; Jukkola-Vuorinen A; Pylkas K; Kauppila S; Dieffenbach AK; Stegmaier C; Arndt V; Margolin S; Balleine R; Arias Perez JI; Pilar Zamora M; Menendez P; Ashworth A; Jones M; Orr N; Arveux P; Kerbrat P; Therese T; Bugert P; Toland AE; Ambrosone CB; Labreche F; Goldberg MS; Dumont M; Ziogas A; Lee E; Dite GS; Apicella C; Southey MC; Long J; Shrubsole M; Deming-Halverson S; Ficarazzi F; Barile M; Peterlongo P; Durda K; Jaworska-Bieniek K; Tollenaar RAEM; Seynaeve C; Bruening T; Ko Y-D; Van Deurzen CHM; Martens JWM; Kriege M; Figueroa JD; Chanock SJ; Lissowska J; Tomlinson I; Kerin MJ; Miller N; Schneeweiss A; Tapper WJ; Gerty SM; Durcan L; Mclean C; Milne RL; Baglietto L; Silva IDS; Fletcher O; Johnson N; Van'T Veer LJ; Cornelissen S; Foersti A; Torres D; Ruediger T; Rudolph A; Flesch-Janys D; Nickels S; Weltens C; Floris G; Moisse M; Dennis J; Wang Q; Dunning AM; Shah M; Brown J; Simard J; Anton-Culver H; Neuhausen SL; Hopper JL; Bogdanova N; Doerk T; Zheng W; Radice P; Jakubowska A; Lubinski J; Devillee P; Brauch H; Hooning M; Garcia-Closas M; Sawyer E; Burwinkel B; Marmee F; Eccles DM; Giles GG; Peto J; Schmidt M; Broeks A; Hamann U; Chang-Claude J; Lambrechts D; Pharoah PDP; Easton D; Pankratz VS; Slager S; Vachon CM; Couch FJ
• Article: HUMAN MOLECULAR GENETICS. 2014;23(22):6096-6111

  Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

  Milne RL; Burwinkel B; Michailidou K; Arias-Perez J-I; Pilar Zamora M; Menendez-Rodriguez P; Hardisson D; Mendiola M; Gonzalez-Neira A; Pita G; Rosario Alonso M; Dennis J; Wang Q; Bolla MK; Swerdlow A; Ashworth A; Orr N; Schoemaker M; Ko Y-D; Brauch H; Hamann U; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Matsuo K; Ito H; Iwata H; Tajima K; Li J; Brand JS; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Lambrechts D; Peuteman G; Christiaens M-R; Smeets A; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Hartman M; Hui M; Lim WY; Chan CW; Marme F; Yang R; Bugert P; Lindblom A; Margolin S; Garcia-Closas M; Chanock SJ; Lissowska J; Figueroa JD; Bojesen SE; Nordestgaard BG; Flyger H; Hooning MJ; Kriege M; van den Ouweland AMW; Koppert LB; Fletcher O; Johnson N; dos-Santos-Silva I; Peto J; Zheng W; Deming-Halverson S; Shrubsole MJ; Long J; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Cox A; Cross SS; Reed MWR; Schmidt MK; Broeks A; Cornelissen S; Braaf L; Kang D; Choi J-Y; Park SK; Noh D-Y; Simard J; Dumont M; Goldberg MS; Labreche F; Fasching PA; Hein A; Ekici AB; Beckmann MW; Radice P; Peterlongo P; Azzollini J; Barile M; Sawyer E; Tomlinson I; Kerin M; Miller N; Hopper JL; Schmidt DF; Makalic E; Southey MC; Teo SH; Yip CH; Sivanandan K; Tay W-T; Shen C-Y; Hsiung C-N; Yu J-C; Hou M-F; Guenel P; Therese T; Sanchez M; Mulot C; Blot W; Cai Q; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Bogdanova N; Doerk T; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Shu X-O; Lu W; Gao Y-T; Zhang B; Couch FJ; Toland AE; Yannoukakos D; Sangrajrang S; McKay J; Wang X; Olson JE; Vachon C; Purrington K; Severi G; Baglietto L; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Devilee P; Tollenaar RAEM; Seynaeve C; Czene K; Eriksson M; Humphreys K; Darabi H; Ahmed S; Shah M; Pharoah PDP; Hall P; Giles GG; Benitez J; Dunning AM; Chenevix-Trench G; Easton DF
• Article: PLOS ONE. 2014;9(11):e109973

  MicroRNA Related Polymorphisms and Breast Cancer Risk

  Khan S; Greco D; Michailidou K; Milne RL; Muranen TA; Heikkinen T; Aaltonen K; Dennis J; Bolla MK; Liu J; Hall P; Irwanto A; Humphreys K; Li J; Czene K; Chang-Claude J; Hein R; Rudolph A; Seibold P; Flesch-Janys D; Fletcher O; Peto J; Silva IDS; Johnson N; Gibson L; Aitken Z; Hopper JL; Tsimiklis H; Bui M; Makalic E; Schmidt DF; Southey MC; Apicella C; Stone J; Waisfisz Q; Meijers-Heijboer H; Adank MA; van der Luijt RB; Meindl A; Schmutzler RK; Muller-Myhsok B; Lichtner P; Turnbull C; Rahman N; Chanock SJ; Hunter DJ; Cox A; Cross SS; Reed MWR; Schmidt MK; Broeks A; Van't Veer LJ; Hogervorst FB; Fasching PA; Schrauder MG; Ekici AB; Beckmann MW; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Benitez J; Zamora PM; Perez JIA; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Pharoah PDP; Dunning AM; Shah M; Luben R; Brown J; Couch FJ; Wang X; Vachon C; Olson JE; Lambrechts D; Moisse M; Paridaens R; Christiaens M-R; Guenel P; Truong T; Laurent-Puig P; Mulot C; Marme F; Burwinkel B; Schneeweiss A; Sohn C; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Andrulis IL; Knight JA; Tchatchou S; Mulligan AM; Dork T; Bogdanova NV; Antonenkova NN; Anton-Culver H; Darabi H; Eriksson M; Garcia-Closas M; Figueroa J; Lissowska J; Brinton L; Devilee P; Tollenaar RAEM; Seynaeve C; van Asperen CJ; Kristensen VN; Slager S; Toland AE; Ambrosone CB; Yannoukakos D; Lindblom A; Margolin S; Radice P; Peterlongo P; Barile M; Mariani P; Hooning MJ; Martens JWM; Collee JM; Jager A; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Giles GG; McLean C; Brauch H; Bruning T; Ko Y-D; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Swerdlow A; Ashworth A; Orr N; Jones M; Simard J; Goldberg MS; Labreche F; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Kataja V; Kosma V-M; Hartikainen JM; Mannermaa A; Hamann U; Chenevix-Trench G; Blomqvist C; Aittomaki K; Easton DF; Nevanlinna H
• Article: LANCET HAEMATOLOGY. 2014;1(2):e74-e84

  Clinical effect of stereotyped B-cell receptor immunoglobulins in chronic lymphocytic leukaemia: a retrospective multicentre study

  Baliakas P; Hadzidimitriou A; Sutton L-A; Minga E; Agathangelidis A; Nichelatti M; Tsanousa A; Scarfo L; Davis Z; Yan X-J; Shanafelt T; Plevova K; Sandberg Y; Vojdeman FJ; Boudjogra M; Tzenou T; Chatzouli M; Chu CC; Veronese S; Gardiner A; Mansouri L; Smedby KE; Pedersen LB; van Lom K; Giudicelli V; Francova HS; Nguyen-Khac F; Panagiotidis P; Juliusson G; Angelis L; Anagnostopoulos A; Lefranc M-P; Facco M; Trentin L; Catherwood M; Montillo M; Geisler CH; Langerak AW; Pospisilova S; Chiorazzi N; Oscier D; Jelinek DF; Darzentas N; Belessi C; Davi F; Rosenquist R; Ghia P; Stamatopoulos K
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164(11):2931-2937

  Unusually Severe Hypophosphatemic Rickets Caused by a Novel and Complex Re-Arrangement of the PHEX Gene

  Pekkarinen T; Lorenz-Depiereux B; Lohman M; Makitie O
• Article: HAEMATOLOGICA. 2014;99(11):1722-1730

  Silenced B-cell receptor response to autoantigen in a poor-prognostic subset of chronic lymphocytic leukemia

  Bergh A-C; Evaldsson C; Pedersen LB; Geisler C; Stamatopoulos K; Rosenquist R; Rosen A
• Meeting abstract: NEURO-ONCOLOGY. 2014;16:v122-v123

  PRO-MIGRATORY AND -PROLIFERATIVE EFFECTS OF ASTROCYTES ON GBM CELLS

  Mega A; Sleire L; Hagerstrand D; Enger PO; Nister M; Ostman A
• Article: HUMAN MOLECULAR GENETICS. 2014;23(20):5545-5557

  Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

  Rafnar T; Sulem P; Thorleifsson G; Vermeulen SH; Helgason H; Saemundsdottir J; Gudjonsson SA; Sigurdsson A; Stacey SN; Gudmundsson J; Johannsdottir H; Alexiusdottir K; Petursdottir V; Nikulasson S; Geirsson G; Jonsson T; Aben KKH; Grotenhuis AJ; Verhaegh GW; Dudek AM; Witjes JA; van der Heijden AG; Vrieling A; Galesloot TE; De Juan A; Panadero A; Rivera F; Hurst C; Bishop DT; Sak SC; Choudhury A; Teo MTW; Arici C; Carta A; Toninelli E; de Verdier P; Rudnai P; Gurzau E; Koppova K; van der Keur KA; Lurkin I; Goossens M; Kellen E; Guarrera S; Russo A; Critelli R; Sacerdote C; Vineis P; Krucker C; Zeegers MP; Gerullis H; Ovsiannikov D; Volkert F; Hengstler JG; Selinski S; Magnusson OT; Masson G; Kong A; DanielGudbjartsson; Lindblom A; Zwarthoff E; Porru S; Golka K; Buntinx F; Matullo G; Kumar R; Mayordomo JI; Steineck DG; Kiltie AE; Jonsson E; Radvanyi F; Knowles MA; Thorsteinsdottir U; Stefansson K
• Article: PLOS ONE. 2014;9(10):e108040

  Bone Health and Risk Factors of Cardiovascular Disease - A Cross-Sectional Study in Healthy Young Adults

  Pirila S; Taskinen M; Turanlahti M; Kajosaari M; Makitie O; Saarinen-Pihkala UM; Viljakainen H
• Article: BMC MEDICAL GENETICS. 2014;15:113

  A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival

  Baecklund F; Foo J-N; Bracci P; Darabi H; Karlsson R; Hjalgrim H; Rosenquist R; Adami H-O; Glimelius B; Melbye M; Conde L; Liu J; Humphreys K; Skibola CF; Smedby KE
• Article: NATURE. 2014;514(7520):92-97

  Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

  Perry JRB; Day F; Elks CE; Sulem P; Thompson DJ; Ferreira T; He C; Chasman DI; Esko T; Thorleifsson G; Albrecht E; Ang WQ; Corre T; Cousminer DL; Feenstra B; Franceschini N; Ganna A; Johnson AD; Kjellqvist S; Lunetta KL; McMahon G; Nolte IM; Paternoster L; Porcu E; Smith AV; Stolk L; Teumer A; Tsernikova N; Tikkanen E; Ulivi S; Wagner EK; Amin N; Bierut LJ; Byrne EM; Hottenga J-J; Koller DL; Mangino M; Pers TH; Yerges-Armstrong LM; Zhao JH; Andrulis IL; Anton-Culver H; Atsma F; Bandinelli S; Beckmann MW; Benitez J; Blomqvist C; Bojesen SE; Bolla MK; Bonanni B; Brauch H; Brenner H; Buring JE; Chang-Claude J; Chanock S; Chen J; Chenevix-Trench G; Collee JM; Couch FJ; Couper D; Coviello AD; Cox A; Czene K; D'adamo AP; Smith GD; De Vivo I; Demerath EW; Dennis J; Devilee P; Dieffenbach AK; Dunning AM; Eiriksdottir G; Eriksson JG; Fasching PA; Ferrucci L; Flesch-Janys D; Flyger H; Foroud T; Franke L; Garcia ME; Garcia-Closas M; Geller F; de Geus EEJ; Giles GG; Gudbjartsson DF; Gudnason V; Guenel P; Guo S; Hall P; Hamann U; Haring R; Hartman CA; Heath A; Hofman A; Hooning MJ; Hopper JL; Hu FB; Hunter DJ; Karasik D; Kiel DP; Knight JA; Kosma V-M; Kutalik Z; Lai S; Lambrechts D; Lindblom A; Maegi R; Magnusson PK; Mannermaa A; Martin NG; Masson G; McArdle PF; McArdle WL; Melbye M; Michailidou K; Mihailov E; Milani L; Milne RL; Nevanlinna H; Neven P; Nohr EA; Oldehinkel AJ; Oostra BA; Palotie A; Peacock M; Pedersen NL; Peterlongo P; Peto J; Pharoah PDP; Postma DS; Pouta A; Pylkaes K; Radice P; Ring S; Rivadeneira F; Robino A; Rose LM; Rudolph A; Salomaa V; Sanna S; Schlessinger D; Schmidt MK; Southey MC; Sovio U; Stampfer MJ; Stoeckl D; Storniolo AM; Timpson NJ; Tyrer J; Visser JA; Vollenweider P; Voelzke H; Waeber G; Waldenberger M; Wallaschofski H; Wang Q; Willemsen G; Winqvist R; Wolffenbuttel BHR; Wright MJ; Boomsma DI; Econs MJ; Khaw K-T; Loos RJF; McCarthy MI; Montgomery GW; Rice JP; Streeten EA; Thorsteinsdottir U; van Duijn CM; Alizadeh BZ; Bergmann S; Boerwinkle E; Boyd HA; Crisponi L; Gasparini P; Gieger C; Harris TB; Ingelsson E; Jaervelin M-R; Kraft P; Lawlor D; Metspalu A; Pennell CE; Ridker PM; Snieder H; Sorensen TIA; Spector TD; Strachan DP; Uitterlinden AG; Wareham NJ; Widen E; Zygmunt M; Murray A; Easton DF; Stefansson K; Murabito JM; Ong KK
• Review: LEUKEMIA & LYMPHOMA. 2014;55(10):2252-2261

  Stereotyped B-cell receptors in chronic lymphocytic leukemia.

  Agathangelidis A; Vardi A; Baliakas P; Stamatopoulos K
• Conference publication: ANNALS OF ONCOLOGY. 2014;25:v80

  IMPORTANCE TO CLARIFY GERMLINE hMLH1 K618A MISSENSE MUTATION FOR CLINICAL SURVEILLANCE AND GENETIC COUNSELING

  Liu T; Lindblom A
• Article: NATURE COMMUNICATIONS. 2014;5:4999

  Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

  Ghoussaini M; Edwards SL; Michailidou K; Nord S; Lari RC-S; Desai K; Kar S; Hillman KM; Kaufmann S; Glubb DM; Beesley J; Dennis J; Bolla MK; Wang Q; Dicks E; Guo Q; Schmidt MK; Shah M; Luben R; Brown J; Czene K; Darabi H; Eriksson M; Klevebring D; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Lambrechts D; Thienpont B; Neven P; Wildiers H; Broeks A; Van't Veer LJ; Rutgers EJT; Couch FJ; Olson JE; Hallberg E; Vachon C; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Peto J; dos-Santos-Silva I; Gibson L; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Hall P; Li J; Liu J; Humphreys K; Kang D; Choi J-Y; Park SK; Noh D-Y; Matsuo K; Ito H; Iwata H; Yatabe Y; Guenel P; Truong T; Menegaux F; Sanchez M; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Wu AH; Tseng C-C; Van Den Berg D; Stram DO; Benitez J; Pilar Zamora M; Arias Perez JI; Menendez P; Shu X-O; Lu W; Gao Y-T; Cai Q; Cox A; Cross SS; Reed MWR; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Lindblom A; Margolin S; Teo SH; Yip CH; Lee DSC; Wong TY; Hooning MJ; Martens JWM; Collee JM; van Deurzen CHM; Hopper JL; Southey MC; Tsimiklis H; Kapuscinski MK; Shen C-Y; Wu P-E; Yu J-C; Chen S-T; Alnaes GG; Borresen-Dale A-L; Giles GG; Milne RL; McLean C; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Hartman M; Miao H; Buhari SABS; Teo YY; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Swerdlow A; Ashworth A; Orr N; Schoemaker MJ; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Simard J; Goldberg MS; Labreche F; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Brauch H; Bruening T; Koto Y-D; Radice P; Peterlongo P; Bonanni B; Volorio S; Doerk T; Bogdanova NV; Helbig S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Devilee P; Tollenaar RAEM; Seynaeve C; Van Asperen CJ; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Slager S; Toland AE; Ambrosone CB; Yannoukakos D; Sangrajrang S; Gaborieau V; Brennan P; Mckay J; Hamann U; Torres D; Zheng W; Long J; Anton-Culver H; Neuhausen SL; Luccarini C; Baynes C; Ahmed S; Maranian M; Healey CS; Gonzalez-Neira A; Pita G; Alonso MR; Alvarez N; Herrero D; Tessier DC; Vincent D; Bacot F; de Santiago I; Carroll J; Caldas C; Brown MA; Lupien M; Kristensen VN; Pharoah PDP; Chenevix-Trench G; French JD; Easton DF; Dunning AM
• Article: CANCER CELL. 2014;26(3):428-442

  BCR-ABL1 Compound Mutations Combining Key Kinase Domain Positions Confer Clinical Resistance to Ponatinib in Ph Chromosome-Positive Leukemia

  Zabriskie MS; Eide CA; Tantravahi SK; Vellore NA; Estrada J; Nicolini FE; Khoury HJ; Larson RA; Konopleva M; Cortes JE; Kantarjian H; Jabbour EJ; Kornblau SM; Lipton JH; Rea D; Stenke L; Barbany G; Lange T; Hernandez-Boluda J-C; Ossenkoppele GJ; Press RD; Chuah C; Goldberg SL; Wetzler M; Mahon F-X; Etienne G; Baccarani M; Soverini S; Rosti G; Rousselot P; Friedman R; Deininger M; Reynolds KR; Heaton WL; Eiring AM; Pomicter AD; Khorashad JS; Kelley TW; Baron R; Druker BJ; Deininger MW; O'Hare T
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293

  Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

  Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjold M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
• Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411

  Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

  Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie O; Grigelioniene G; Nordgren A
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2014;34(9):2068-2077

  Lim Domain Binding 2 A Key Driver of Transendothelial Migration of Leukocytes and Atherosclerosis

  Shang M-M; Talukdar HA; Hofmann JJ; Niaudet C; Asl HF; Jain RK; Rossignoli A; Cedergren C; Silveira A; Gigante B; Leander K; de Faire U; Hamsten A; Ruusalepp A; Melander O; Ivert T; Michoel T; Schadt EE; Betsholtz C; Skogsberg J; Bjorkegren JLM
• Article: HUMAN MOLECULAR GENETICS. 2014;23(17):4729-4737

  Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

  Whiffin N; Hosking FJ; Farrington SM; Palles C; Dobbins SE; Zgaga L; Lloyd A; Kinnersley B; Gorman M; Tenesa A; Broderick P; Wang Y; Barclay E; Hayward C; Martin L; Buchanan DD; Win AK; Hopper J; Jenkins M; Lindor NM; Newcomb PA; Gallinger S; Conti D; Schumacher F; Casey G; Liu T; Campbell H; Lindblom A; Houlston RS; Tomlinson IP; Dunlop MG
• Article: NUCLEIC ACIDS RESEARCH. 2014;42(14):9108-9120

  The PARP inhibitor Olaparib disrupts base excision repair of 5-aza-2′-deoxycytidine lesions

  Luis Orta M; Hoglund A; Manuel Calderon-Montano J; Dominguez I; Burgos-Moron E; Visnes T; Pastor N; Strom C; Lopez-Iazaro M; Helleday T
• Review: CANCER RESEARCH. 2014;74(16):4211-4216

  Immunogenetic Studies of Chronic Lymphocytic Leukemia: Revelations and Speculations about Ontogeny and Clinical Evolution

  Vardi A; Agathangelidis A; Sutton L-A; Ghia P; Rosenquist R; Stamatopoulos K
• Article: HAEMATOLOGICA. 2014;99(8):1285-1291

  MDM2 promotor polymorphism and disease characteristics in chronic lymphocytic leukemia: results of an individual patient data-based meta-analysis

  Benner A; Mansouri L; Rossi D; Majid A; Willander K; Parker A; Bond G; Pavlova S; Nueckel H; Merkel O; Ghia P; Montserrat E; Kaderi MA; Rosenquist R; Gaidano G; Dyer MJS; Soederkvist P; Linderholm M; Oscier D; Tvaruzkova Z; Pospisilova S; Duehrsen U; Greil R; Doehner H; Stilgenbauer S; Zenz T
• Article: PARKINSONISM & RELATED DISORDERS. 2014;20(8):919-923

  Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

  Ygland E; Taroni F; Genera C; Caldarazzo S; Duno M; Soller M; Puschmann A
• Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2014;166(4):621-625

  The frequency of TP53 gene defects differs between chronic lymphocytic leukaemia subgroups harbouring distinct antigen receptors

  Malcikova J; Stalika E; Davis Z; Plevova K; Trbusek M; Mansouri L; Scarfo L; Baliakas P; Gardiner A; Sutton L-A; Francova HS; Agathangelidis A; Anagnostopoulos A; Tracy I; Makris A; Smardova J; Ghia P; Belessi C; Gonzalez D; Rosenquist R; Oscier D; Pospisilova S; Stamatopoulos K
• Article: PEDIATRIC NEPHROLOGY. 2014;29(8):1431-1440

  Pediatric solid organ transplantation and osteoporosis: a descriptive study on bone histomorphometric findings

  Tamminen IS; Valta H; Jalanko H; Salminen S; Mayranpaa MK; Isaksson H; Kroger H; Makitie O
• Article: LEUKEMIA & LYMPHOMA. 2014;55(8):1781-1787

  Familial CD3+ T large granular lymphocyte leukemia: evidence that genetic predisposition and antigen selection promote clonal cytotoxic T-cell responses.

  Stalika E; Papalexandri A; Iskas M; Stavroyianni N; Kanellis G; Kotta K; Pontikoglou C; Siorenta A; Anagnostopoulos A; Papadaki H; Papadaki T; Stamatopoulos K
• Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2014;24(4):353-359

  A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement

  Soderhall C; Lundin J; Lagerstedt-Robinson K; Grigelioniene G; Lackgren G; Kockum CC; Nordenskjold A
• Article: PARKINSONISM & RELATED DISORDERS. 2014;20(7):748-754

  Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

  Wictorin K; Bradvik B; Nilsson K; Soller M; van Westen D; Bynke G; Bauer P; Schoels L; Puschmann A
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164(7):1635-1641

  Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

  Grigelioniene G; Geiberger S; Horemuzova E; Mostrom E; Jantti N; Neumeyer L; Astrom E; Nordenskjold M; Nordgren A; Makitie O
• Article: NATURE COMMUNICATIONS. 2014;5:4051

  2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

  Li J; Lindstroem LS; Foo JN; Rafiq S; Schmidt MK; Pharoah PDP; Michailidou K; Dennis J; Bolla MK; Wang Q; Van't Veer LJ; Cornelissen S; Rutgers E; Southey MC; Apicella C; Dite GS; Hopper JL; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Blomqvist C; Muranen TA; Aittomaeki K; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Hartikainen JM; Kataja V; Chenevix-Trench G; Phillips K-A; McLachlan S-A; Lambrechts D; Thienpont B; Smeets A; Wildiers H; Chang-Claude J; Flesch-Janys D; Seibold P; Rudolph A; Giles GG; Baglietto L; Severi G; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Kristensen V; Alnaes GIG; Borresen-Dale A-L; Nord S; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Devilee P; Tollenaar R; Seynaeve C; Hooning M; Kriege M; Hollestelle A; Van den Ouweland A; Li Y; Hamann U; Torres D; Ulmer HU; Rudiger T; Shen C-Y; Hsiung C-N; Wu P-E; Chen S-T; Teo SH; Taib NAM; Yip CH; Ho GF; Matsuo K; Ito H; Iwata H; Tajima K; Kang D; Choi J-Y; Park SK; Yoo K-Y; Maishman T; Tapper WJ; Dunning A; Shah M; Luben R; Brown J; Khor CC; Eccles DM; Nevanlinna H; Easton D; Humphreys K; Liu J; Hall P; Czene K
• Article: EPIGENETICS. 2014;9(6):910-917

  microRNA-34b/c on chromosome 11q23 is aberrantly methylated in chronic lymphocytic leukemia

  Deneberg S; Kanduri M; Ali D; Bengtzen S; Karimi M; Qu Y; Kimby E; Mansouri L; Rosenquist R; Lennartsson A; Lehmann S
• Article: LEUKEMIA RESEARCH. 2014;38(6):682-690

  Identification of B-cell lymphoma subsets by plasma protein profiling using recombinant antibody microarrays

  Pauly F; Smedby KE; Jerkeman M; Hjalgrim H; Ohlsson M; Rosenquist R; Borrebaeck CAK; Wingren C
• Letter: CANCER GENETICS. 2014;207(6):281-283

  Translocation t(2;7)(p11.2;q21.2): a rare genetic aberration associated with B-cell lymphoproliferative disorders of marginal-zone origin.

  Xochelli A; Baliakas P; Moore S; Sole F; Wickham N; Salido M; Athanasiadou A; Oscier D; Stamatopoulos K
• Article: JOURNAL OF PEDIATRICS. 2014;164(6):1436-43.e1

  Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease-A Prospective Study

  Laakso S; Valta H; Verkasalo M; Toiviainen-Salo S; Makitie O
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2014;99(6):2155-2163

  Suppressed Bone Turnover in Obesity: A Link to Energy Metabolism? A Case-Control Study

  Viljakainen H; Ivaska KK; Paldanius P; Lipsanen-Nyman M; Saukkonen T; Pietilainen KH; Andersson S; Laitinen K; Makitie O
• Article: HUMAN MOLECULAR GENETICS. 2014;23(11):3045-3053

  Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

  Stacey SN; Sulem P; Gudbjartsson DF; Jonasdottir A; Thorleifsson G; Gudjonsson SA; Masson G; Gudmundsson J; Sigurgeirsson B; Benediktsdottir KR; Thorisdottir K; Ragnarsson R; Fuentelsaz V; Corredera C; Grasa M; Planelles D; Sanmartin O; Rudnai P; Gurzau E; Koppova K; Hemminki K; Nexo BA; Tjonneland A; Overvad K; Johannsdottir H; Helgadottir HT; Thorsteinsdottir U; Kong A; Vogel U; Kumar R; Nagore E; Mayordomo JI; Rafnar T; Olafsson JH; Stefansson K
• Conference publication: HAEMATOLOGICA. 2014;99:9

  PROGNOSTIC IMPACT OF IKZF1 DELETIONS IN PEDIATRIC B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA TREATED ACCORDING TO NOPHO PROTOCOLS - THE SWEDISH EXPERIENCE

  Ofverholm II; Olsson L; Noren-Nystrom U; Forestier E; Nordlund J; Sjogren H; Golovleva I; Heyman M; Zachariadis V; Nordgren A; Johansson B; Barbany G
• Article: BREAST CANCER RESEARCH. 2014;16(3):R51

  Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

  Johnson N; Dudbridge F; Orr N; Gibson L; Jones ME; Schoemaker MJ; Folkerd EJ; Haynes BP; Hopper JL; Southey MC; Dite GS; Apicella C; Schmidt MK; Broeks A; Van't Veer LJ; Atsma F; Muir K; Lophatananon A; Fasching PA; Beckmann MW; Ekici AB; Renner SP; Sawyer E; Tomlinson I; Kerin M; Miller N; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Guenel P; Truong T; Cordina E; Menegaux F; Bojesen SE; Nordestgaard BG; Flyger H; Milne R; Zamora MP; Arias Perez JI; Benitez J; Bernstein L; Anton-Culver H; Ziogas A; Dur CC; Brenner H; Mueller H; Arndt V; Dieffenbach AK; Meindl A; Heil J; Bartram CR; Schmutzler RK; Brauch H; Justenhoven C; Ko Y-D; Nevanlinna H; Muranen TA; Aittomaeki K; Blomqvist C; Matsuo K; Doerk T; Bogdanova NV; Antonenkova NN; Lindblom A; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Chenevix-Trench G; Beesley J; Wu AH; Van den Berg D; Tseng C-C; Lambrechts D; Smeets D; Neven P; Wildiers H; Chang-Claude J; Rudolph A; Nickels S; Flesch-Janys D; Radice P; Peterlongo P; Bonanni B; Pensotti V; Couch FJ; Olson JE; Wang X; Fredericksen Z; Pankratz VS; Giles GG; Severi G; Baglietto L; Haiman C; Simard J; Goldberg MS; Labreche F; Dumont M; Soucy P; Teo S; Yip CH; Phuah SY; Cornes BK; Kristensen VN; Alnaes GG; Borresen-Dale A-L; Zheng W; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Devillee P; Figueroa J; Chanock SJ; Lissowska J; Sherman ME; Hall P; Schoof N; Hooning M; Hollestelle A; Oldenburg RA; Tilanus-Linthorst M; Liu J; Cox A; Brock IW; Reed MWR; Cross SS; Blot W; Signorello LB; Pharoah PDP; Dunning AM; Shah M; Kang D; Noh D-Y; Park SK; Choi J-Y; Hartman M; Miao H; Lim WY; Tang A; Hamann U; Foersti A; Ruediger T; Ulmer HU; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Sangrajrang S; Gaborieau V; Brennan P; Mckay J; Slager S; Toland AE; Vachon C; Yannoukakos D; Shen C-Y; Yu J-C; Huang C-S; Hou M-F; Gonzalez-Neira A; Tessier DC; Vincent D; Bacot F; Luccarini C; Dennis J; Michailidou K; Bolla MK; Wang J; Easton DF; Garcia-Closas M; Dowsett M; Ashworth A; Swerdlow AJ; Peto J; Silva IDS; Fletcher O
• Article: JOURNAL OF IMMUNOLOGY. 2014;192(10):4518-4524

  Heterogeneous functional effects of concomitant B cell receptor and TLR stimulation in chronic lymphocytic leukemia with mutated versus unmutated Ig genes.

  Chatzouli M; Ntoufa S; Papakonstantinou N; Chartomatsidou E; Anagnostopoulos A; Kollia P; Ghia P; Muzio M; Stamatopoulos K; Belessi C
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2014;12(1):14

  Familial cancer among consecutive uterine cancer patients in Sweden

  Tzortzatos G; Wersall O; Danielsson KG; Lindblom A; Tham E; Mints M
• Article: PEDIATRIC HEMATOLOGY AND ONCOLOGY. 2014;31(4):327-339

  Elevated p53 Protein Expression; A Predictor of Relapse in Rare Chronic Myeloid Malignancies in Children?

  Honkaniemi E; Mattsson K; Barbany G; Sander B; Gustafsson B
• Article: NATURE GENETICS. 2014;46(5):498-502

  Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31

  Styrkarsdottir U; Thorleifsson G; Helgadottir HT; Bomer N; Metrustry S; Bierma-Zeinstra S; Strijbosch AM; Evangelou E; Hart D; Beekman M; Jonasdottir A; Sigurdsson A; Eiriksson FF; Thorsteinsdottir M; Frigge ML; Kong A; Gudjonsson SA; Magnusson OT; Masson G; Hofman A; Arden NK; Ingvarsson T; Lohmander S; Kloppenburg M; Rivadeneira F; Nelissen RGHH; Spector T; Uitterlinden A; Slagboom PE; Thorsteinsdottir U; Jonsdottir I; Valdes AM; Meulenbelt I; van Meurs J; Jonsson H; Stefansson K
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2014;29(5):1110-1117

  Increased Heterogeneity of Bone Matrix Mineralization in Pediatric Patients Prone to Fractures: A Biopsy Study

  Tamminen IS; Misof BM; Roschger P; Mayranpaa MK; Turunen MJ; Isaksson H; Kroger H; Makitie O; Klaushofer K
• Article: PLOS ONE. 2014;9(4):e95022

  The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

  Abuli A; Bujanda L; Munoz J; Buch S; Schafmayer C; Maiorana MV; Veneroni S; van Wezel T; Liu T; Westers H; Esteban-Jurado C; Ocana T; Pique JM; Andreu M; Jover R; Carracedo A; Xicola RM; Llor X; Castells A; Dunlop M; Hofstra R; Lindblom A; Wijnen J; Peterlongo P; Hampe J; Ruiz-Ponte C; Castellvi-Bel S
• Article: JOURNAL OF HEMATOLOGY & ONCOLOGY. 2014;7:32

  Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

  Lundin C; Forestier E; Andersen MK; Autio K; Barbany G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
• Article: NATURE. 2014;508(7495):215-221

  MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool

  Gad H; Koolmeister T; Jemth A-S; Eshtad S; Jacques SA; Strom CE; Svensson LM; Schultz N; Lundback T; Einarsdottir BO; Saleh A; Gokturk C; Baranczewski P; Svensson R; Berntsson RP-A; Gustafsson R; Stromberg K; Sanjiv K; Jacques-Cordonnier M-C; Desroses M; Gustavsson A-L; Olofsson R; Johansson F; Homan EJ; Loseva O; Brautigam L; Johansson L; Hoglund A; Hagenkort A; Pham T; Altun M; Gaugaz FZ; Vikingsson S; Evers B; Henriksson M; Vallin KSA; Wallner OA; Hammarstrom LGJ; Wiita E; Almlof I; Kalderen C; Axelsson H; Djureinovic T; Puigvert JC; Haggblad M; Jeppsson F; Martens U; Lundin C; Lundgren B; Granelli I; Jensen AJ; Artursson P; Nilsson JA; Stenmark P; Scobie M; Berglund UW; Helleday T
• Article: JOURNAL OF CLINICAL DENSITOMETRY. 2014;17(2):275-280

  Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions

  Bishop N; Arundel P; Clark E; Dimitri P; Farr J; Jones G; Makitie O; Munns CF; Shaw N
• Article: ARTHRITIS & RHEUMATOLOGY. 2014;66(4):940-949

  Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies

  Rodriguez-Fontenla C; Calaza M; Evangelou E; Valdes AM; Arden N; Blanco FJ; Carr A; Chapman K; Deloukas P; Doherty M; Esko T; Garces Aleta CM; Gomez-Reino Carnota JJ; Helgadottir H; Hofman A; Jonsdottir I; Kerkhof HJM; Kloppenburg M; McCaskie A; Ntzani EE; Ollier WER; Oreiro N; Panoutsopoulou K; Ralston SH; Ramos YF; Riancho JA; Rivadeneira F; Eline Slagboom P; Styrkarsdottir U; Thorsteinsdottir U; Thorleifsson G; Tsezou A; Uitterlinden AG; Wallis GA; Wilkinson JM; Zhai G; Zhu Y; Felson DT; Ioannidis JPA; Loughlin J; Metspalu A; Meulenbelt I; Stefansson K; van Meurs JB; Zeggini E; Spector TD; Gonzalez A
• Article: PLOS GENETICS. 2014;10(4):e1004285

  Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

  Sawyer E; Roylance R; Petridis C; Brook MN; Nowinski S; Papouli E; Fletcher O; Pinder S; Hanby A; Kohut K; Gorman P; Caneppele M; Peto J; Silva IDS; Johnson N; Swann R; Dwek M; Perkins K-A; Gillett C; Houlston R; Ross G; De Ieso P; Southey MC; Hopper JL; Provenzano E; Apicella C; Wesseling J; Cornelissen S; Keeman R; Fasching PA; Jud SM; Ekici AB; Beckmann MW; Kerin MJ; Marme F; Schneeweiss A; Sohn C; Burwinkel B; Guenel P; Truong T; Laurent-Puig P; Kerbrat P; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Milne RL; Perez JIA; Menendez P; Benitez J; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Meindl A; Lichtner P; Schmutzler RK; Lochmann M; Brauch H; Fischer H-P; Ko Y-D; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Bogdanova NV; Dork T; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Chenevix-Trench G; Lambrechts D; Weltens C; Van Limbergen E; Hatse S; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Radice P; Peterlongo P; Bonanni B; Volorio S; Giles GG; Severi G; Baglietto L; Mclean CA; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Kristensen V; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Kauppila S; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Devillee P; Tollenaar RAEM; Seynaeve CM; Kriege M; Figueroa J; Chanock SJ; Sherman ME; Hooning MJ; Hollestelle A; van den Ouweland AMW; van Deurzen CHM; Li J; Czene K; Humphreys K; Cox A; Cross SS; Reed MWR; Shah M; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Swerdlow A; Ashworth A; Orr N; Schoemaker M; Couch FJ; Hallberg E; Gonzalez-Neira A; Pita G; Alonso MR; Tessier DC; Vincent D; Bacot F; Bolla MK; Wang Q; Dennis J; Michailidou K; Dunning AM; Hall P; Easton D; Pharoah P; Schmidt MK; Tomlinson I; Garcia-Closas M
• Article: PLOS GENETICS. 2014;10(4):e1004256

  DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

  Osorio A; Milne RL; Kuchenbaecker K; Vaclova T; Pita G; Alonso R; Peterlongo P; Blanco I; de la Hoya M; Duran M; Diez O; Ramon y Cajal T; Konstantopoulou I; Martinez-Bouzas C; Conejero RA; Soucy P; McGuffog L; Barrowdale D; Lee A; Arver B; Rantala J; Loman N; Ehrencrona H; Olopade OI; Beattie MS; Domchek SM; Nathanson K; Rebbeck TR; Arun BK; Karlan BY; Walsh C; Lester J; John EM; Whittemore AS; Daly MB; Southey M; Hopper J; Terry MB; Buys SS; Janavicius R; Dorfling CM; van Rensburg EJ; Steele L; Neuhausen SL; Ding YC; Hansen TVO; Jonson L; Ejlertsen B; Gerdes A-M; Infante M; Herraez B; Moreno LT; Weitzel JN; Herzog J; Weeman K; Manoukian S; Peissel B; Zaffaroni D; Scuvera G; Bonanni B; Mariette F; Volorio S; Viel A; Varesco L; Papi L; Ottini L; Tibiletti MG; Radice P; Yannoukakos D; Garber J; Ellis S; Frost D; Platte R; Fineberg E; Evans G; Lalloo F; Izatt L; Eeles R; Adlard J; Davidson R; Cole T; Eccles D; Cook J; Hodgson S; Brewer C; Tischkowitz M; Douglas F; Porteous M; Side L; Walker L; Morrison P; Donaldson A; Kennedy J; Foo C; Godwin AK; Schmutzler RK; Wappenschmidt B; Rhiem K; Engel C; Meindl A; Ditsch N; Arnold N; Plendl HJ; Niederacher D; Sutter C; Wang-Gohrke S; Steinemann D; Preisler-Adams S; Kast K; Varon-Mateeva R; Gehrig A; Stoppa-Lyonnet D; Sinilnikova OM; Mazoyer S; Damiola F; Poppe B; Claes K; Piedmonte M; Tucker K; Backes F; Rodriguez G; Brewster W; Wakeley K; Rutherford T; Caldes T; Nevanlinna H; Aittomaki K; Rookus MA; van Os TAM; van der Kolk L; de Lange JL; Meijers-Heijboer HEJ; van der Hout AH; van Asperen CJ; Gomez Garcia EB; Hoogerbrugge N; Collee JM; van Deurzen CHM; van der Luijt RB; Devilee P; Olah E; Lazaro C; Teule A; Menendez M; Jakubowska A; Cybulski C; Gronwald J; Lubinski J; Durda K; Jaworska-Bieniek K; Johannsson OT; Maugard C; Montagna M; Tognazzo S; Teixeira MR; Healey S; Olswold C; Guidugli L; Lindor N; Slager S; Szabo CI; Vijai J; Robson M; Kauff N; Zhang L; Rau-Murthy R; Fink-Retter A; Singer CF; Rappaport C; Kaulich DG; Pfeiler G; Tea M-K; Berger A; Phelan CM; Greene MH; Mai PL; Lejbkowicz F; Andrulis I; Mulligan AM; Glendon G; Toland AE; Bojesen A; Pedersen IS; Sunde L; Thomassen M; Kruse TA; Jensen UB; Friedman E; Laitman Y; Shimon SP; Simard J; Easton DF; Offit K; Couch FJ; Chenevix-Trench G; Antoniou AC; Benitez J
• Review: DEVELOPMENT. 2014;141(7):1427-1441

  Switching on cilia: transcriptional networks regulating ciliogenesis

  Choksi SP; Lauter G; Swoboda P; Roy S
• Article: CANCER MEDICINE. 2014;3(2):376-384

  Human papillomavirus and p53 expression in cancer of unknown primary in the head and neck region in relation to clinical outcome

  Sivars L; Nasman A; Tertipis N; Vlastos A; Ramqvist T; Dalianis T; Munck-Wikland E; Nordemar S
• Article: HUMAN MOLECULAR GENETICS. 2014;23(7):1934-1946

  A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

  Milne RL; Herranz J; Michailidou K; Dennis J; Tyrer JP; Zamora MP; Arias-Perez JI; Gonzalez-Neira A; Pita G; Alonso MR; Wang Q; Bolla MK; Czene K; Eriksson M; Humphreys K; Darabi H; Li J; Anton-Culver H; Neuhausen SL; Ziogas A; Clarke CA; Hopper JL; Dite GS; Apicella C; Southey MC; Chenevix-Trench G; Swerdlow A; Ashworth A; Orr N; Schoemaker M; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Andrulism IL; Knight JA; Glendon G; Mulligan AM; Bojesen SE; Nordestgaard BG; Flyger H; Nevanlinna HL; Muranen TA; Aittomaki K; Blomqvist C; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Wang X; Olson JE; Vachon C; Purrington K; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Dunning AM; Shah M; Guenel P; Truong T; Sanchez M; Mulot C; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Lindblom A; Margolin S; Hooning MJ; Hollestelle A; Collee JM; Jager A; Cox A; Brock IW; Reed MWR; Devilee P; Tollenaar RAEM; Seynaeve C; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Dumont M; Soucy P; Doerk T; Bogdanova NV; Hamann U; Foersti A; Ruediger T; Ulmer H-U; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Fletcher O; Johnson N; Silva IDS; Peto J; Radice P; Peterlongo P; Peissel B; Mariani P; Giles GG; Severi G; Baglietto L; Sawyer E; Tomlinson I; Kerin M; Miller N; Marme F; Burwinkei B; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Lambrechts D; Yesilyurt BT; Floris G; Leunen K; Alnaes GG; Kristensen V; Borresen-Dale A-L; Garcia-Closas M; Chanock SJ; Lissowska J; Figueroa JD; Schmidt MK; Broeks A; Verhoef S; Rutgers EJ; Brauch H; Bruening T; Ko Y-D; Couch FJ; Toland AE; Yannoukakos D; Pharoah PDP; Hall P; Benitez J; Malats N; Easton DF
• Article: BRITISH JOURNAL OF NUTRITION. 2014;111(6):1069-1076

  Breast-fed infants and their later cardiovascular health: a prospective study from birth to age 32 years

  Pirila S; Taskinen M; Viljakainen H; Makitie O; Kajosaari M; Saarinen-Pihkala UM; Turanlahti M
• Letter: LEUKEMIA. 2014;28(3):710-713

  On the way towards a 'CLL prognostic index': focus on TP53, BIRC3, SF3B1, NOTCH1 and MYD88 in a population-based cohort

  Cortese D; Sutton L-A; Cahill N; Smedby KE; Geisler C; Gunnarsson R; Juliusson G; Mansouri L; Rosenquist R
• Review: BONE. 2014;60:246-251

  Caffey disease: New perspectives on old questions

  Nistala H; Makitie O; Jueppner H
• Letter: LEUKEMIA. 2014;28(3):694-696

  Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia

  Mansouri L; Sutton L-A; Ljungstrom V; Sorqvist EF; Gunnarsson R; Smedby KE; Juliusson G; Stamatopoulos K; Nilsson M; Rosenquist R
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2014;89(3):249-255

  Chromosomal translocations and karyotype complexity in chronic lymphocytic leukemia: a systematic reappraisal of classic cytogenetic data.

  Baliakas P; Iskas M; Gardiner A; Davis Z; Plevova K; Nguyen-Khac F; Malcikova J; Anagnostopoulos A; Glide S; Mould S; Stepanovska K; Brejcha M; Belessi C; Davi F; Pospisilova S; Athanasiadou A; Stamatopoulos K; Oscier D
• Article: NATURE GENETICS. 2014;46(3):294-298

  Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

  Steinthorsdottir V; Thorleifsson G; Sulem P; Helgason H; Grarup N; Sigurdsson A; Helgadottir HT; Johannsdottir H; Magnusson OT; Gudjonsson SA; Justesen JM; Harder MN; Jorgensen ME; Christensen C; Brandslund I; Sandbaek A; Lauritzen T; Vestergaard H; Linneberg A; Jorgensen T; Hansen T; Daneshpour MS; Fallah M-S; Hreidarsson AB; Sigurdsson G; Azizi F; Benediktsson R; Masson G; Helgason A; Kong A; Gudbjartsson DF; Pedersen O; Thorsteinsdottir U; Stefansson K
• Article: BIOTECHNOLOGY JOURNAL. 2014;9(3):435-445

  Antibody performance in western blot applications is context-dependent.

  Algenäs C; Agaton C; Fagerberg L; Asplund A; Björling L; Björling E; Kampf C; Lundberg E; Nilsson P; Persson A; Wester K; Pontén F; Wernérus H; Uhlén M; Ottosson Takanen J; Hober S
• Article: BLOOD. 2014;123(8):1199-1206

  Clonal B-cell lymphocytosis exhibiting immunophenotypic features consistent with a marginal-zone origin: is this a distinct entity?

  Xochelli A; Kalpadakis C; Gardiner A; Baliakas P; Vassilakopoulos TP; Mould S; Davis Z; Stalika E; Kanellis G; Angelopoulou MK; McIver-Brown N; Ibbotson R; Sachanas S; Korkolopoulou P; Athanasiadou A; Anagnostopoulos A; Papadaki HA; Papadaki T; Stamatopoulos K; Pangalis GA; Oscier D
• Article: BRITISH JOURNAL OF CANCER. 2014;110(4):1088-1100

  FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

  Agarwal D; Pineda S; Michailidou K; Herranz J; Pita G; Moreno LT; Alonso MR; Dennis J; Wang Q; Bolla MK; Meyer KB; Menendez-Rodriguez P; Hardisson D; Mendiola M; Gonzalez-Neira A; Lindblom A; Margolin S; Swerdlow A; Ashworth A; Orr N; Jones M; Matsuo K; Ito H; Iwata H; Kondo N; Hartman M; Hui M; Lim WY; Iau PT-C; Sawyer E; Tomlinson I; Kerin M; Miller N; Kang D; Choi J-Y; Park SK; Noh D-Y; Hopper JL; Schmidt DF; Makalic E; Southey MC; Teo SH; Yip CH; Sivanandan K; Tay W-T; Brauch H; Bruening T; Hamann U; Dunning AM; Shah M; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Schmidt MK; Broeks A; Rosenberg EH; van't Veer LJ; Fasching PA; Renner SP; Ekici AB; Beckmann MW; Shen C-Y; Hsiung C-N; Yu J-C; Hou M-F; Blot W; Cai Q; Wu AH; Tseng C-C; Van Den Berg D; Stram DO; Cox A; Brock IW; Reed MWR; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Zheng W; Deming-Halverson S; Shrubsole MJ; Long J; Shu X-O; Lu W; Gao Y-T; Zhang B; Radice P; Peterlongo P; Manoukian S; Mariette F; Sangrajrang S; Mckay J; Couch FJ; Toland AE; Yannoukakos D; Fletcher O; Johnson N; dos Santos Silva I; Peto J; Marme F; Burwinkel B; Guenel P; Truong T; Sanchez M; Mulot C; Bojesen SE; Nordestgaard BG; Flyer H; Brenner H; Dieffenbach AK; Arndt V; Stegmaier C; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Lambrechts D; Yesilyurt BT; Floris G; Leunen K; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Wang X; Olson JE; Vachon C; Purrington K; Giles GG; Severi G; Baglietto L; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Dumont M; Goldberg MS; Labreche F; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Grip M; Devilee P; Tollenaar RAEM; Seynaeve C; Garcia-Closas M; Chanock SJ; Lissowska J; Figueroa JD; Czene K; Eriksson M; Humphreys K; Darabi H; Hooning MJ; Kriege M; Collee JM; Tilanus-Linthorst M; Li J; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Nevanlinna H; Muranen TA; Aittomaeki K; Blomqvist C; Bogdanova N; Doerk T; Hall P; Chenevix-Trench G; Easton DF; Pharoah PDP; Arias-Perez JI; Zamora P; Benitez J; Milne RL
• Article: INTERNATIONAL JOURNAL OF CANCER. 2014;134(4):939-947

  A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

  Mesher D; Dove-Edwin I; Sasieni P; Vasen H; Bernstein I; Royer-Pokora B; Holinski-Feder E; Lalloo F; Evans DG; Forsberg A; Lindblom A; Thomas H
• Article: PLOS GENETICS. 2014;10(2):e1004201

  Plasma Cholesterol-Induced Lesion Networks Activated before Regression of Early, Mature, and Advanced Atherosclerosis

  Bjorkegren JLM; Hagg S; Talukdar HA; Asl HF; Jain RK; Cedergren C; Shang M-M; Rossignoli A; Takolander R; Melander O; Hamsten A; Michoel T; Skogsberg J
• Review: SEMINARS IN CANCER BIOLOGY. 2014;24:61-70

  Lymphoma development in patients with autoimmune and inflammatory disorders - What are the driving forces?

  Baecklund E; Smedby KE; Sutton L-A; Askling J; Rosenquist R
• Article: MOLECULAR & CELLULAR PROTEOMICS. 2014;13(2):397-406

  Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.

  Fagerberg L; Hallström BM; Oksvold P; Kampf C; Djureinovic D; Odeberg J; Habuka M; Tahmasebpoor S; Danielsson A; Edlund K; Asplund A; Sjöstedt E; Lundberg E; Szigyarto CA-K; Skogs M; Takanen JO; Berling H; Tegel H; Mulder J; Nilsson P; Schwenk JM; Lindskog C; Danielsson F; Mardinoglu A; Sivertsson A; von Feilitzen K; Forsberg M; Zwahlen M; Olsson I; Navani S; Huss M; Nielsen J; Ponten F; Uhlén M
• Editorial: SEMINARS IN CANCER BIOLOGY. 2014;24:1-2

  The microenvironment in lymphomas - Dissecting the complex crosstalk between tumor cells and 'by-stander' cells

  Rosenquist R; Davi F; Ghia P
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2014;29:S140

  WNT16 genetic variation in fracture-prone children.

  Pekkinen M; Makitie S; Vallius S; Mayranpaa M; Makitie O
• Article: PLOS ONE. 2014;9(1):e87292

  Vitamin D Binding Protein Genotype Is Associated with Serum 25-Hydroxyvitamin D and PTH Concentrations, as Well as Bone Health in Children and Adolescents in Finland

  Pekkinen M; Saarnio E; Viljakainen HT; Kokkonen E; Jakobsen J; Cashman K; Makitie O; Lamberg-Allardt C
• Letter: LAKARTIDNINGEN. 2014;111(3-4):99

  [NatiOn--research school for clinical cancer researchers].

  Öfverholm II; Langerth A
• Article: CLINICAL CANCER RESEARCH. 2014;20(2):323-330

  IgG-Switched CLL Has a Distinct Immunogenetic Signature from the Common MD Variant: Ontogenetic Implications

  Vardi A; Agathangelidis A; Sutton L-A; Chatzouli M; Scarfo L; Mansouri L; Douka V; Anagnostopoulos A; Darzentas N; Rosenquist R; Ghia P; Belessi C; Stamatopoulos K
• Article: BMC BIOINFORMATICS. 2014;15:11

  kruX: matrix-based non-parametric eQTL discovery

  Qi J; Asl HF; Bjorkegren J; Michoel T
• Article: PLOS ONE. 2014;9(1):e85313

  Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

  Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjold E; Svensson P-J; Anneren G; Iwarsson E; Nordgren A; Nordenskjold A
• Article: FETAL DIAGNOSIS AND THERAPY. 2014;36(4):326-332

  Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

  Sahlin E; Gustavsson P; Lieden A; Papadogiannakis N; Bjareborn L; Pettersson K; Nordenskjold M; Iwarsson E
• Review: INTERNATIONAL REVIEW OF NEUROBIOLOGY. 2014;116:95-125

  Splicing in the human brain.

  Zaghlool A; Ameur A; Cavelier L; Feuk L
• Article: NATURE GENETICS. 2014;46(1):56-60

  A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

  Speedy HE; Di Bernardo MC; Sava GP; Dyer MJS; Holroyd A; Wang Y; Sunter NJ; Mansouri L; Juliusson G; Smedby KE; Roos G; Jayne S; Majid A; Dearden C; Hall AG; Mainou-Fowler T; Jackson GH; Summerfield G; Harris RJ; Pettitt AR; Allsup DJ; Bailey JR; Pratt G; Pepper C; Fegan C; Rosenquist R; Catovsky D; Allan JM; Houlston RS
• Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54

  Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

  Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
• Article: METHODS IN MOLECULAR BIOLOGY. 2014;1082:175-185

  Sensitive whole-mount fluorescent in situ hybridization in zebrafish using enhanced tyramide signal amplification.

  Lauter G; Söll I; Hauptmann G
• Letter: LEUKEMIA. 2014;28(1):196-198

  Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

  Zachariadis V; Schoumans J; Ofverholm I; Barbany G; Halvardsson E; Forestier E; Johansson B; Nordenskjold M; Nordgren A
• Article: ACTA PAEDIATRICA. 2014;103(1):38-47

  Growth charts and long-term sequelae in extreme preterm infants - from full-term age to 10 years

  Horemuzova E; Amark P; Jacobson L; Soder O; Hagenas L
• Article: PLOS ONE. 2013;8(12):e83952

  Variants of the PPARD Gene and Their Clinicopathological Significance in Colorectal Cancer

  Ticha I; Gnosa S; Lindblom A; Liu T; Sun X-F
• Article: PLOS ONE. 2013;8(12):e83936

  Linkage Analysis in Familial Non-Lynch Syndrome Colorectal Cancer Families from Sweden

  Kontham V; von Holst S; Lindblom A
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(6):1046-1060

  Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

  Meyer KB; O'Reilly M; Michailidou K; Carlebur S; Edwards SL; French JD; Prathalingham R; Dennis J; Bolla MK; Wang Q; de Santiago I; Hopper JL; Tsimiklis H; Apicella C; Southey MC; Schmidt MK; Broeks A; Van't Veer LJ; Hogervorst FB; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Fasching PA; Lux MP; Ekici AB; Beckmann MW; Peto J; Silva IDS; Fletcher O; Johnson N; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Marme F; Schneeweiss A; Sohn C; Burwinkel B; Guenel P; Truong T; Laurent-Puig P; Menegaux F; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Milne RL; Pilar Zamora M; Arias JI; Benitez J; Neuhausen S; Anton-Culver H; Ziogas A; Dur CC; Brenner H; Mueller H; Arndt V; Stegmaier C; Meindl A; Schmutzler RK; Engel C; Ditsch N; Brauch H; Bruening T; Ko Y-D; Nevanlinna H; Muranen TA; Aittomaeki K; Blomqvist C; Matsuo K; Ito H; Iwata H; Yatabe Y; Doerk T; Helbig S; Bogdanova NV; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Chenevix-Trench G; Wu AH; Tseng C-C; Van Den Berg D; Stram DO; Lambrechts D; Thienpont B; Christiaens M-R; Smeets A; Chang-Claude J; Rudolph A; Seibold P; Flesch-Janys D; Radice P; Peterlongo P; Bonanni B; Bernard L; Couch FJ; Olson JE; Wang X; Purrington K; Giles GG; Severi G; Baglietto L; McLean C; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Teo S-H; Yip C-H; Phuah S-Y; Kristensen V; Alnaes GG; Borresen-Dale A-L; Zheng W; Deming-Halverson S; Shrubsole M; Long J; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Kauppila S; Andrulis IL; Knight JA; Glendon G; Tchatchou S; Devilee P; Tollenaar RAEM; Seynaeve CM; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Czene K; Darabi H; Eriksson K; Hooning MJ; Martens JWM; van den Ouweland AMW; van Deurzen CHM; Hall P; Li J; Liu J; Humphreys K; Shu X-O; Lu W; Gao Y-T; Cai H; Cox A; Reed MWR; Blot W; Signorello LB; Cai Q; Pharoah PDP; Ghoussaini M; Harrington P; Tyrer J; Kang D; Choi J-Y; Park SK; Noh D-Y; Hartman M; Hui M; Lim W-Y; Buhari SA; Hamann U; Foersti A; Ruediger T; Ulmer H-U; Jakubowska A; Lubinski J; Jaworska K; Durda K; Sangrajrang S; Gaborieau V; Brennan P; Mckay J; Vachon C; Slager S; Fostira F; Pilarski R; Shen C-Y; Hsiung C-N; Wu P-E; Hou M-F; Swerdlow A; Ashworth A; Orr N; Schoemaker MJ; Ponder BAJ; Dunning AM; Easton DF
• Article: EPIGENETICS. 2013;8(12):1280-1288

  A key role for EZH2 in epigenetic silencing of HOX genes in mantle cell lymphoma

  Kanduri M; Sander B; Ntoufa S; Papakonstantinou N; Sutton L; Stamatopoulos K; Kanduri C; Rosenquist R
• Editorial: SEMINARS IN CANCER BIOLOGY. 2013;23(6):397-398

  Antigens in lymphoma development-Current knowledge and future directions Introduction

  Rosenquist R; Davi F; Stamatopoulos K
• Review: SEMINARS IN CANCER BIOLOGY. 2013;23(6):399-409

  Antigen selection in B-cell lymphomas-Tracing the evidence

  Sutton L-A; Agathangelidis A; Belessi C; Darzentas N; Davi F; Ghia P; Rosenquist R; Stamatopoulos K
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2013;88(12):1001-1006

  Decreased survival in normal karyotype AML with single-nucleotide polymorphisms in genes encoding the AraC metabolizing enzymes cytidine deaminase and 5′-nucleotidase

  Falk IJ; Fyrberg A; Paul E; Nahi H; Hermanson M; Rosenquist R; Hoglund M; Palmqvist L; Stockelberg D; Wei Y; Green H; Lotfi K
• Letter: LEUKEMIA & LYMPHOMA. 2013;54(12):2742-2744

  The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia

  Barbany G; Gauffin F; Ofverholm I; Karlsson H; Thorn I; Arvidson J; Heyman M; Gustafsson B; Nordgren A
• Article: BMC BIOTECHNOLOGY. 2013;13:99

  Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.

  Zaghlool A; Ameur A; Nyberg L; Halvardson J; Grabherr M; Cavelier L; Feuk L
• Review: LEUKEMIA & LYMPHOMA. 2013;54(11):2351-2364

  Prognostic markers and their clinical applicability in chronic lymphocytic leukemia: where do we stand?

  Rosenquist R; Cortese D; Bhoi S; Mansouri L; Gunnarsson R
• Article: SCANDINAVIAN JOURNAL OF INFECTIOUS DISEASES. 2013;45(11):878-881

  Oral human papillomavirus prevalence in high school students of one municipality in Sweden

  Nordfors C; Grun N; Haeggblom L; Tertipis N; Sivars L; Mattebo M; Larsson M; Haggstrom-Nordin E; Tyden T; Ramqvist T; Dalianis T
• Article: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. 2013;209(5):443.e1-443.e10

  Maternal preeclampsia and bone mineral density of the adult offspring

  Miettola S; Hovi P; Andersson S; Strang-Karlsson S; Pouta A; Laivuori H; Jarvenpaa A-L; Eriksson JG; Makitie O; Kajantie E
• Article: LEUKEMIA. 2013;27(11):2196-2199

  Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

  Strefford JC; Sutton L-A; Baliakas P; Agathangelidis A; Malcikova J; Plevova K; Scarfo L; Davis Z; Stalika E; Cortese D; Cahill N; Pedersen LB; di Celle PF; Tzenou T; Geisler C; Panagiotidis P; Langerak AW; Chiorazzi N; Pospisilova S; Oscier D; Davi F; Belessi C; Mansouri L; Ghia P; Stamatopoulos K; Rosenquist R
• Article: LANCET. 2013;382(9902):1424-1432

  Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

  Bishop N; Adami S; Ahmed SF; Anton J; Arundel P; Burren CP; Devogelaer J-P; Hangartner T; Eva H; Lane JM; Lorenc R; Makitie O; Munns CF; Paredes A; Pavlov H; Plotkin H; Raggio CL; Loreto Reyes M; Schoenau E; Semler O; Sillence DO; Steiner RD
• Article: BLOOD. 2013;122(15):2673-2682

  Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome

  Chigrinova E; Rinaldi A; Kwee I; Rossi D; Rancoita PMV; Strefford JC; Oscier D; Stamatopoulos K; Papadaki T; Berger F; Young KH; Murray F; Rosenquist R; Greiner TC; Chan WC; Orlandi EM; Lucioni M; Marasca R; Inghirami G; Ladetto M; Forconi F; Cogliatti S; Votavova H; Swerdlow SH; Stilgenbauer S; Piris MA; Matolcsy A; Spagnolo D; Nikitin E; Zamo A; Gattei V; Bhagat G; Ott G; Zucca E; Gaidano G; Bertoni F
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161(10):2554-2558

  The Phenotype Range of Achondrogenesis 1A

  Grigelioniene G; Geiberger S; Papadogiannakis N; Makitie O; Nishimura G; Nordgren A; Conner P
• Article: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2013;33(10):2432-2443

  Profiling of Atherosclerotic Lesions by Gene and Tissue Microarrays Reveals PCSK6 as a Novel Protease in Unstable Carotid Atherosclerosis

  Perisic L; Hedin E; Razuvaev A; Lengquist M; Osterholm C; Folkersen L; Gillgren P; Paulsson-Berne G; Ponten F; Odeberg J; Hedin U
• Article: HUMAN MUTATION. 2013;34(10):1381-1386

  Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

  Iida A; Simsek-Kiper PO; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092

  Molecular and clinical delineation of the 17q22 microdeletion phenotype

  Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
• Article: MOLECULAR MEDICINE. 2013;19(1):294-302

  Expression of immunoglobulin receptors with distinctive features indicating antigen selection by marginal zone B cells from human spleen.

  Colombo M; Cutrona G; Reverberi D; Bruno S; Ghiotto F; Tenca C; Stamatopoulos K; Hadzidimitriou A; Ceccarelli J; Salvi S; Boccardo S; Calevo MG; De Santanna A; Truini M; Fais F; Ferrarini M
• Journal article: PLOS ONE. 2013;8(9):e72091

  Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

  Picelli S; Lorenzo Bermejo J; Chang-Claude J; Hoffmeister M; Fernandez-Rozadilla C; Carracedo A; Castells A; Castellvi-Bel S; Naccarati A; Pardini B; Vodickova L; Mueller H; Talseth-Palmer BA; Stibbard G; Peterlongo P; Nici C; Veneroni S; Li L; Casey G; Tenesa A; Farrington SM; Tomlinson I; Moreno V; van Wezel T; Wijnen J; Dunlop M; Radice P; Scott RJ; Vodicka P; Ruiz-Ponte C; Brenner H; Buch S; Voelzke H; Hampe J; Schafmayer C; Lindblom A
• Article: CANCER DISCOVERY. 2013;3(9):1044-1057

  Systematic Interrogation of 3q26 Identifies TLOC1 and SKIL as Cancer Drivers

  Hagerstrand D; Tong A; Schumacher SE; Ilic N; Shen RR; Cheung HW; Vazquez F; Shrestha Y; Kim SY; Giacomelli AO; Rosenbluh J; Schinzel AC; Spardy NA; Barbie DA; Mermel CH; Weir BA; Garraway LA; Tamayo P; Mesirov JP; Beroukhim R; Hahn WC
• Article: HAEMATOLOGICA. 2013;98(9):1424-1432

  High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols

  Paulsson K; Forestier E; Andersen MK; Autio K; Barbany G; Borgstrom G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
• Letter: LEUKEMIA. 2013;27(9):1936-1939

  Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols

  Ofverholm I; Tran AN; Heyman M; Zachariadis V; Nordenskjold M; Nordgren A; Barbany G
• Article: MOLECULAR MEDICINE. 2013;19(1):230-236

  Temporal Dynamics of Clonal Evolution in Chronic Lymphocytic Leukemia with Stereotyped IGHV4-34/IGKV2-30 Antigen Receptors: Longitudinal Immunogenetic Evidence

  Sutton L-A; Kostareli E; Stalika E; Tsaftaris A; Anagnostopoulos A; Darzentas N; Rosenquist R; Stamatopoulos K
• Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2013;210(9):1729-1742

  DNA repair genes are selectively mutated in diffuse large B cell lymphomas

  de Miranda NFCC; Peng R; Georgiou K; Wu C; Sorqvist EF; Berglund M; Chen L; Gao Z; Lagerstedt K; Lisboa S; Roos F; van Wezel T; Teixeira MR; Rosenquist R; Sundstrom C; Enblad G; Nilsson M; Zeng Y; Kipling D; Pan-Hammarstrom Q
• Article: LEUKEMIA & LYMPHOMA. 2013;54(8):1769-1779

  Molecular characterization of neoplastic and normal "sister" lymphoblastoid B-cell lines from chronic lymphocytic leukemia

  Myhrinder AL; Hellqvist E; Bergh A-C; Jansson M; Nilsson K; Hultman P; Jonasson J; Buhl AM; Pedersen LB; Jurlander J; Klein E; Weit N; Herling M; Rosenquist R; Rosen A
• Review: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2013;78(2):130-139

  Inhibitors of BTK and ITK: State of the New Drugs for Cancer, Autoimmunity and Inflammatory Diseases

  Vargas L; Hamasy A; Nore BF; Smith CIE
• Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528

  A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

  Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2013;88(8):647-651

  Short telomere length is associated with NOTCH1/SF3B1/TP53 aberrations and poor outcome in newly diagnosed chronic lymphocytic leukemia patients

  Mansouri L; Grabowski P; Degerman S; Svenson U; Gunnarsson R; Cahill N; Smedby KE; Geisler C; Juliusson G; Roos G; Rosenquist R
• Review: NATURE REVIEWS RHEUMATOLOGY. 2013;9(8):465-475

  Causes, mechanisms and management of paediatric osteoporosis

  Makitie O
• Review: LEUKEMIA & LYMPHOMA. 2013;54(8):1583-1590

  Exploring the genetic landscape in chronic lymphocytic leukemia using high-resolution technologies

  Gunnarsson R; Mansouri L; Rosenquist R
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2013;162(2):221-228

  rs2072135, a low-penetrance variant for chronic lymphocytic leukaemia?

  Sava GP; Speedy HE; Di Bernardo MC; Deaglio S; Karabon L; Frydecka I; Woszczyk D; Rossi D; Gaidano G; Mansouri L; Smedby KE; Juliusson G; Rosenquist R; Catovsky D; Houlston RS
• Article: EPIGENETICS. 2013;8(7):720-729

  ANGPT2 promoter methylation is strongly associated with gene expression and prognosis in chronic lymphocytic leukemia

  Martinelli S; Kanduri M; Maffei R; Fiorcari S; Bulgarelli J; Marasca R; Rosenquist R
• Article: LEUKEMIA. 2013;27(7):1520-1526

  Impact of malignant stem cell burden on therapy outcome in newly diagnosed chronic myeloid leukemia patients

  Mustjoki S; Richter J; Barbany G; Ehrencrona H; Fioretos T; Gedde-Dahl T; Gjertsen BT; Hovland R; Hernesniemi S; Josefsen D; Koskenvesa P; Dybedal I; Markevarn B; Olofsson T; Olsson-Stromberg U; Rapakko K; Thunberg S; Stenke L; Simonsson B; Porkka K; Hjorth-Hansen H
• Article: INFLAMMATORY BOWEL DISEASES. 2013;19(8):1725-1731

  Subclinical Inflammation with Increased Neutrophil Activity in Healthy Twin Siblings Reflect Environmental Influence in the Pathogenesis of Inflammatory Bowel Disease

  Zhulina Y; Hahn-Stromberg V; Shamikh A; Peterson CGB; Gustavsson A; Nyhlin N; Wickbom A; Bohr J; Bodin L; Tysk C; Carlson M; Halfvarson J
• Article: EUROPEAN JOURNAL OF CANCER. 2013;49(11):2522-2530

  CD8⁺ and CD4⁺ tumour infiltrating lymphocytes in relation to human papillomavirus status and clinical outcome in tonsillar and base of tongue squamous cell carcinoma

  Nordfors C; Grun N; Tertipis N; Ahrlund-Richter A; Haeggblom L; Sivars L; Du J; Nyberg T; Marklund L; Munck-Wikland E; Nasman A; Ramqvist T; Dalianis T
• Article: WORLD JOURNAL OF SURGICAL ONCOLOGY. 2013;11:133

  Clinicopathological analysis of colorectal cancer: a comparison between emergency and elective surgical cases

  Ghazi S; Berg E; Lindblom A; Lindforss U
• Article: JOURNAL OF PROTEOME RESEARCH. 2013;12(6):2439-2448

  Contribution of Antibody-based Protein Profiling to the Human Chromosome-centric Proteome Project (C-HPP)

  Fagerberg L; Oksvold P; Skogs M; Algenas C; Lundberg E; Ponten F; Sivertsson A; Odeberg J; Klevebring D; Kampf C; Asplund A; Sjostedt E; Szigyarto CA-K; Edqvist P-H; Olsson I; Rydberg U; Hudson P; Takanen JO; Berling H; Bjorling L; Tegel H; Rockberg J; Nilsson P; Navani S; Jirstrom K; Mulder J; Schwenk JM; Zwahlen M; Hober S; Forsberg M; von Feilitzen K; Uhlen M
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;92(6):990-995

  FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

  Unger S; Gorna MW; Le Bechec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnan C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafe L; Superti-Furga G; Stevenson B; Superti-Furga A
• Review: GUT. 2013;62(6):812-823

  Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

  Vasen HFA; Blanco I; Aktan-Collan K; Gopie JP; Alonso A; Aretz S; Bernstein I; Bertario L; Burn J; Capella G; Colas C; Engel C; Frayling IM; Genuardi M; Heinimann K; Hes FJ; Hodgson SV; Karagiannis JA; Lalloo F; Lindblom A; Mecklin J-P; Moller P; Myrhoj T; Nagengast FM; Parc Y; de Leon MP; Renkonen-Sinisalo L; Sampson JR; Stormorken A; Sijmons RH; Tejpar S; Thomas HJW; Rahner N; Wijnen JT; Jaervinen HJ; Moeslein G
• Article: GUT. 2013;62(6):871-881

  Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

  Dunlop MG; Tenesa A; Farrington SM; Ballereau S; Brewster DH; Koessler T; Pharoah P; Schafmayer C; Hampe J; Völzke H; Chang-Claude J; Hoffmeister M; Brenner H; von Holst S; Picelli S; Lindblom A; Jenkins MA; Hopper JL; Casey G; Duggan D; Newcomb PA; Abulí A; Bessa X; Ruiz-Ponte C; Castellví-Bel S; Niittymäki I; Tuupanen S; Karhu A; Aaltonen L; Zanke B; Hudson T; Gallinger S; Barclay E; Martin L; Gorman M; Carvajal-Carmona L; Walther A; Kerr D; Lubbe S; Broderick P; Chandler I; Pittman A; Penegar S; Campbell H; Tomlinson I; Houlston RS
• Article: MOLECULAR AND CELLULAR BIOCHEMISTRY. 2013;378(1-2):229-236

  Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain

  Leung K-Y; De Castro SCP; Cabreiro F; Gustavsson P; Copp AJ; Greene NDE
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(6):1284-1290

  Partial Tetrasomy 14 Associated With Multiple Malformations

  Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
• Article: BIRTH DEFECTS RESEARCH. 2013;97(6):398-402

  Is LMNB1 a susceptibility gene for neural tube defects in humans?

  Robinson A; Partridge D; Malhas A; De Castro SCP; Gustavsson P; Thompson DN; Vaux DJ; Copp AJ; Stanier P; Bassuk AG; Greene NDE
• Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(6):1491-1494

  Recessive MED With Auricular Swelling Due to Compound Heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 Gene

  Syvanen J; Helenius I; Hero M; Makitie O; Ignatius J
• Article: NATURE. 2013;497(7450):517-520

  Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

  Styrkarsdottir U; Thorleifsson G; Sulem P; Gudbjartsson DF; Sigurdsson A; Jonasdottir A; Jonasdottir A; Oddsson A; Helgason A; Magnusson OT; BragiWalters G; Frigge ML; Helgadottir HT; Johannsdottir H; Bergsteinsdottir K; Ogmundsdottir MH; Center JR; Nguyen TV; Eisman JA; Christiansen C; Steingrimsson E; Jonasson JG; Tryggvadottir L; Eyjolfsson GI; Theodors A; Jonsson T; Ingvarsson T; Olafsson I; Rafnar T; Kong A; Sigurdsson G; Masson G; Thorsteinsdottir U; Stefansson K
• Doctoral thesis: 2013

  Growth and morbidity in extreme preterm born infants

  Horemuzova E
• Article: NEW ENGLAND JOURNAL OF MEDICINE. 2013;368(19):1809-1816

  WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

  Laine CM; Joeng KS; Campeau PM; Kiviranta R; Tarkkonen K; Grover M; Lu JT; Pekkinen M; Wessman M; Heino TJ; Nieminen-Pihala V; Aronen M; Laine T; Kroger H; Cole WG; Lehesjoki A-E; Nevarez L; Krakow D; Curry CJR; Cohn DH; Gibbs RA; Lee BH; Makitie O
• Article: PLOS ONE. 2013;8(5):e63036

  Total and Carboxylated Osteocalcin Associate with Insulin Levels in Young Adults Born with Normal or Very Low Birth Weight

  Paldanius PM; Ivaska KK; Hovi P; Andersson S; Eriksson JG; Vaananen K; Kajantie E; Makitie O
• Article: PLOS ONE. 2013;8(4):e60856

  Vitamin D Deficiency in Children with a Chronic Illness-Seasonal and Age-Related Variations in Serum 25-hydroxy Vitamin D Concentrations

  Holmlund-Suila E; Koskivirta P; Metso T; Andersson S; Makitie O; Viljakainen HT
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;92(4):489-503

  Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

  French JD; Ghoussaini M; Edwards SL; Meyer KB; Michailidou K; Ahmed S; Khan S; Maranian MJ; O'Reilly M; Hillman KM; Betts JA; Carro T; Bailey PJ; Dicks E; Beesley J; Tyrer J; Maia A-T; Beck A; Knoblauch NW; Chen C; Kraft P; Barnes D; Gonzalez-Neira A; Rosario Alonso M; Herrero D; Tessier DC; Vincent D; Bacot F; Luccarini C; Baynes C; Conroy D; Dennis J; Bolla MK; Wang Q; Hopper JL; Southey MC; Schmidt MK; Broeks A; Verhoef S; Cornelissen S; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Fasching PA; Loehberg CR; Ekici AB; Beckmann MW; Peto J; Silva IDS; Johnson N; Aitken Z; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Marme F; Schneeweiss A; Sohn C; Burwinkel B; Guenel P; Therese T; Laurent-Puig P; Menegaux F; Bojesen SE; Nordestgaard NG; Nielsen SF; Flyger H; Milne RL; Pilar Zamora M; Arias Perez JI; Benitez J; Anton-Culver H; Brenner H; Mueller H; Arndt V; Stegmaier C; Meind A; Lichtner P; Schmutzler RK; Engel C; Brauch H; Hamann U; Justenhoven C; Aaltonen K; Heikkila P; Aittomaki K; Blomqvist C; Matsuo K; Ito H; Iwata H; Sueta A; Bogdanova NV; Antonenkova NN; Dork T; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Wu AH; Tseng C-C; Van Den Berg D; Stram DO; Lambrechts D; Peeters S; Smeets A; Floris G; Chang-Claude J; Rudolph A; Nickels S; Flesch-Janys D; Radice P; Peterlongo P; Bonanni B; Sardella D; Couch FJ; Wang X; Pankratz VS; Lee A; Giles GG; Severi G; Baglietto L; Haiman CA; Henderson BE; Schumacher F; Le Marchand L; Simard J; Goldberg MS; Labreche F; Dumont M; Teo SH; Yip CH; Ng C-H; Vithana EN; Kristensen V; Zheng W; Deming-Halverson S; Shrubsole M; Long J; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Devilee P; Seynaeve C; Garcia-Closas M; Figueroa J; Chanock SJ; Lissowska J; Czene K; Klevebring D; Schoof N; Hooning MJ; Martens JWM; Collee JM; Tilanus-Linthorst M; Hall P; Li J; Liu J; Humphreys K; Shu X-O; Lu W; Gao Y-T; Cai H; Cox A; Balasubramanian SP; Blot W; Signorello LB; Cai Q; Pharoah PDP; Healey CS; Shah M; Pooley KA; Kang D; Yoo K-Y; Noh D-Y; Hartman M; Miao H; Sng J-H; Sim X; Jakubowska A; Lubinski J; Jaworska-Bieniek K; Durda K; Sangrajrang S; Gaborieau V; McKay J; Toland AE; Ambrosone CB; Yannoukakos D; Godwin AK; Shen C-Y; Hsiung C-N; Wu P-E; Chen S-T; Swerdlow A; Ashworth A; Orr N; Schoemaker MJ; Ponder BAJ; Nevanlinna H; Brown MA; Chenevix-Trench G; Easton DF; Dunning AM
• Article: PREGNANCY HYPERTENSION-AN INTERNATIONAL JOURNAL OF WOMENS CARDIOVASCULAR HEALTH. 2013;3(2):98

  PP083. Maternal pre-eclampsia and bone mineral density of the adult offspring.

  Miettola S; Hovi P; Andersson S; Strang-Karlsson S; Pouta A; Laivuori H; Jarvenpaa A-L; Eriksson JG; Makitie O; Kajantie E
• Article: NATURE GENETICS. 2013;45(4):392-398

  Genome-wide association studies identify four ER negative-specific breast cancer risk loci

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• Article: NATURE GENETICS. 2013;45(4):371-384

  Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

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• Article: NATURE GENETICS. 2013;45(4):353-361

  Large-scale genotyping identifies 41 new loci associated with breast cancer risk

  Michailidou K; Hall P; Gonzalez-Neira A; Ghoussaini M; Dennis J; Milne RL; Schmidt MK; Chang-Claude J; Bojesen SE; Bolla MK; Wang Q; Dicks E; Lee A; Turnbull C; Rahman N; Fletcher O; Peto J; Gibson L; Silva IDS; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Czene K; Irwanto A; Liu J; Waisfisz Q; Meijers-Heijboer H; Adank M; van der Luijt RB; Hein R; Dahmen N; Beckman L; Meindl A; Schmutzler RK; Mueller-Myhsok B; Lichtner P; Hopper JL; Southey MC; Makalic E; Schmidt DF; Uitterlinden AG; Hofman A; Hunter DJ; Chanock SJ; Vincent D; Bacot F; Tessier DC; Canisius S; Wessels LFA; Haiman CA; Shah M; Luben R; Brown J; Luccarini C; Schoof N; Humphreys K; Li J; Nordestgaard BG; Nielsen SF; Flyger H; Couch FJ; Wang X; Vachon C; Stevens KN; Lambrechts D; Moisse M; Paridaens R; Christiaens M-R; Rudolph A; Nickels S; Flesch-Janys D; Johnson N; Aitken Z; Aaltonen K; Heikkinen T; Broeks A; Van't Veer LJ; van der Schoot CE; Guenel P; Truong T; Laurent-Puig P; Menegaux F; Marme F; Schneeweiss A; Sohn C; Burwinke B; Pilar Zamora M; Arias Perez JI; Pita G; Rosario Alonso M; Cox A; Brock IW; Cross SS; Reed MWR; Sawyer EJ; Tomlinson I; Kerin MJ; Miller N; Henderson BE; Schumacher F; Le Marchand L; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Lindblom A; Margolin S; Hooning MJ; Hollestelle A; van den Ouweland AMW; Jager A; Bui QM; Stone J; Dite GS; Apicella C; Tsimiklis H; Giles GG; Severi G; Baglietto L; Fasching PA; Haeberle L; Ekici AB; Beckmann MW; Brenner H; Mueller H; Arndt V; Stegmaier C; Swerdlown A; Ashworth A; Orr N; Jones M; Figueroa J; Lissowska J; Brinton L; Goldberg MS; Labreche F; Dumont M; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Brauch H; Hamann U; Bruening T; Radice P; Peterlongo P; Manouldan S; Bonanni B; Devilee P; Tollenaar RAEM; Seynaeve C; van Asperen CJ; Jakubowska A; Lubinski J; Jaworska K; Durda K; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Bogdanova NV; Antonenkova NN; Doerk T; Kristensen VN; Anton-Culver H; Slager S; Toland AE; Edge S; Fostira F; Kang D; Yoo K-Y; Noh D-Y; Matsuo K; Ito H; Iwata H; Sueta A; Wu AH; Tseng C-C; Van den Berg D; Stram DO; Shu X-O; Lu W; Gao Y-T; Cai H; Teo SH; Yip CH; Phuah SY; Cornes BK; Hartman M; Miao H; Lim WY; Sng J-H; Muir K; Lophatananon A; Stewart-Brown S; Siriwanarangsan P; Shen C-Y; Hsiung C-N; Wu P-E; Ding S-L; Sangrajrang S; Gaborieau V; Brennan P; McKay J; Blot WJ; Signorello LB; Cai Q; Zheng W; Deming-Halverson S; Shrubsole M; Long J; Simard J; Garcia-Closas M; Pharoah PDP; Chenevix-Trench G; Dunning AM; Benitez J; Easton DF
• Article: JOURNAL OF COMPARATIVE NEUROLOGY. 2013;521(5):1093-1118

  Molecular characterization of prosomeric and intraprosomeric subdivisions of the embryonic zebrafish diencephalon

  Lauter G; Soll I; Hauptmann G
• Article: JOURNAL OF PEDIATRICS. 2013;162(4):844-849

  Hypoplastic Anemia in Cartilage-Hair Hypoplasia-Balancing between Iron Overload and Chelation

  Taskinen M; Toiviainen-Salo S; Lohi J; Vuolukka P; Grasbeck M; Makitie O
• Article: HAEMOPHILIA. 2013;19(2):200-205

  Hypercalciuria and kidney function in children with haemophilia

  Ranta S; Valta H; Viljakainen H; Makitie O; Makipernaa A
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(2):261-267

  Characteristics and associated anomalies in radial ray deficiencies in FinlandA population-based study

  Pakkasjarvi N; Koskimies E; Ritvanen A; Nietosvaara Y; Makitie O
• Review: EPIGENETICS. 2013;8(2):138-148

  Uncovering the DNA methylome in chronic lymphocytic leukemia

  Cahill N; Rosenquist R
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2013;168(2):281-288

  Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study

  Makitie O; Heikkinen R; Toiviainen-Salo S; Henriksson M; Puukko-Viertomies L-R; Jahnukainen K
• Letter: LEUKEMIA. 2013;27(2):512-514

  NOTCH1 and SF3B1 mutations can be added to the hierarchical prognostic classification in chronic lymphocytic leukemia

  Mansouri L; Cahill N; Gunnarsson R; Smedby KE; Tjonnfjord E; Hjalgrim H; Juliusson G; Geisler C; Rosenquist R
• Article: CLINICAL LYMPHOMA MYELOMA & LEUKEMIA. 2013;13(1):73-76

  Combating Cancer Predisposition in Association With Idiopathic Immune Deficiency: A Recurrent Nodal and Cutaneous T-Cell Lymphoproliferative Disease in a Patient With Cartilage-Hair Hypoplasia

  Taskinen M; Jeskanen L; Karjalainen-Lindsberg M-L; Makitie A; Makitie O; Ranki A
• Letter: LEUKEMIA. 2013;27(2):510-512

  Whole-genome-amplified DNA as a source for mutational analysis underestimates the frequency of mutations in pediatric acute myeloid leukemia

  Rosenquist R; Ehrencrona H; Hasle H; Palle J; Kanduri M
• Meeting abstract: BIOPHYSICAL JOURNAL. 2013;104(2):26A

  Novel Aspects of the Reversibility of the Antagonism at the Dopamine D2 Receptor by Antipsychotics

  Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Ogren SO; Arhem P
• Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2013;129(19):1993-2001

  [The changing spectrum of childhood fractures].

  Mäyränpää M; Mäkitie O; Kallio P
• Article: ATHEROSCLEROSIS. 2013;226(1):67-73

  Increased expression of heparanase in symptomatic carotid atherosclerosis

  Osterholm C; Folkersen L; Lengquist M; Ponten F; Renne T; Li JP; Hedin U
• Article: NATURE COMMUNICATIONS. 2013;4:2776

  A common variant at 8q24.21 is associated with renal cell cancer

  Gudmundsson J; Sulem P; Gudbjartsson DF; Masson G; Petursdottir V; Hardarson S; Gudjonsson SA; Johannsdottir H; Helgadottir HT; Stacey SN; Magnusson OT; Helgason H; Panadero A; van der Zanden LF; Aben KKH; Vermeulen SH; Oosterwijk E; Kong A; Mayordomo JI; Sverrisdottir A; Jonsson E; Gudbjartsson T; Einarsson GV; Kiemeney LA; Thorsteinsdottir U; Rafnar T; Stefansson K
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2013;79(4):227-235

  Risk of Metabolic Bone Disease is Increased Both during and after Weaning off Parenteral Nutrition in Pediatric Intestinal Failure

  Mutanen A; Makitie O; Pakarinen MP
• Article: PLOS GENETICS. 2013;9(3):e1003212

  Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

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• Article: LEUKEMIA. 2013;27(1):150-158

  450K-array analysis of chronic lymphocytic leukemia cells reveals global DNA methylation to be relatively stable over time and similar in resting and proliferative compartments

  Cahill N; Bergh A-C; Kanduri M; Goransson-Kultima H; Mansouri L; Isaksson A; Ryan F; Smedby KE; Juliusson G; Sundstrom C; Rosen A; Rosenquist R
• Letter: LEUKEMIA. 2013;27(1):248-250

  Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia

  Safavi S; Forestier E; Golovleva I; Barbany G; Nord KH; Moorman AV; Harrison CJ; Johansson B; Paulsson K
• Letter: BONE MARROW TRANSPLANTATION. 2013;48(1):153

  Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia

  Linnankivi T; Polvi A; Makitie O; Lehesjoki A-E; Kivela T
• Article: BONE. 2013;52(1):347-353

  Anti-tumor necrosis factor treatment in cherubism - Clinical, radiological and histological findings in two children

  Hero M; Suomalainen A; Hagstrom J; Stoor P; Kontio R; Alapulli H; Arte S; Toiviainen-Salo S; Landenne P; Makitie O
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(1):2-7

  Developing a policy for paediatric biobanks: principles for good practice.

  Hens K; Van El CE; Borry P; Cambon-Thomsen A; Cornel MC; Forzano F; Lucassen A; Patch C; Tranebjaerg L; Vermeulen E; Salvaterra E; Tibben A; Dierickx K; PPPC of the European Society of Human Genetics
• Article: BMC MEDICAL GENETICS. 2012;13:123

  Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

  Hooper SD; Johansson ACV; Tellgren-Roth C; Stattin E-L; Dahl N; Cavelier L; Feuk L
• Article: BIOMOLECULES. 2012;2(4):635-649

  Strategies for the Use of Poly(adenosine diphosphate ribose) Polymerase (PARP) Inhibitors in Cancer Therapy

  Stroem CE; Helleday T
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2012;30(35):4308-4316

  CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer

  Weischer M; Nordestgaard BG; Pharoah P; Bolla MK; Nevanlinna H; van't Veer LJ; Garcia-Closas M; Hopper JL; Hall P; Andrulis IL; Devilee P; Fasching PA; Anton-Culver H; Lambrechts D; Hooning M; Cox A; Giles GG; Burwinkel B; Lindblom A; Couch FJ; Mannermaa A; Alnaes GG; John EM; Doerk T; Flyger H; Dunning AM; Wang Q; Muranen TA; van Hien R; Figueroa J; Southey MC; Czene K; Knight JA; Tollenaar RAEM; Beckmann MW; Ziogas A; Christiaens M-R; Collee JM; Reed MWR; Severi G; Marme F; Margolin S; Olson JE; Kosma V-M; Kristensen VN; Miron A; Bogdanova N; Shah M; Blomqvist C; Broeks A; Sherman M; Phillips K-A; Li J; Liu J; Glendon G; Seynaeve C; Ekici AB; Leunen K; Kriege M; Cross SS; Baglietto L; Sohn C; Wang X; Kataja V; Borresen-Dale A-L; Meyer A; Easton DF; Schmidt MK; Bojesen SE
• Article: NATURE GENETICS. 2012;44(12):1326-1329

  A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

  Gudmundsson J; Sulem P; Gudbjartsson DF; Masson G; Agnarsson BA; Benediktsdottir KR; Sigurdsson A; Magnusson OT; Gudjonsson SA; Magnusdottir DN; Johannsdottir H; Helgadottir HT; Stacey SN; Jonasdottir A; Olafsdottir SB; Thorleifsson G; Jonasson JG; Tryggvadottir L; Navarrete S; Fuertes F; Helfand BT; Hu Q; Csiki IE; Mates IN; Jinga V; Aben KKH; van Oort IM; Vermeulen SH; Donovan JL; Hamdy FC; Ng C-F; Chiu PKF; Lau K-M; Ng MCY; Gulcher JR; Kong A; Catalona WJ; Mayordomo JI; Einarsson GV; Barkardottir RB; Jonsson E; Mates D; Neal DE; Kiemeney LA; Thorsteinsdottir U; Rafnar T; Stefansson K
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(12):3119-3125

  Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

  Linnankivi T; Makitie O; Valanne L; Toiviainen-Salo S
• Article: EPIGENETICS. 2012;7(12):1435-1442

  Distinct transcriptional control in major immunogenetic subsets of chronic lymphocytic leukemia exhibiting subset-biased global DNA methylation profiles

  Kanduri M; Marincevic M; Halldorsdottir AM; Mansouri L; Junevik K; Ntoufa S; Kultima HG; Isaksson A; Juliusson G; Andersson P-O; Ehrencrona H; Stamatopoulos K; Rosenquist R
• Article: LANCET ONCOLOGY. 2012;13(12):1242-1249

  Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

  Mathers JC; Movahedi M; Macrae F; Mecklin J-P; Moeslein G; Olschwang S; Eccles D; Evans G; Maher ER; Bertario L; Bisgaard M-L; Dunlop M; Ho JWC; Hodgson S; Lindblom A; Lubinski J; Morrison PJ; Murday V; Ramesar R; Side L; Scott RJ; Thomas HJW; Vasen H; Gerdes A-M; Barker G; Crawford G; Elliott F; Pylvanainen K; Wijnen J; Fodde R; Lynch H; Bishop DT; Burn J
• Article: NUCLEIC ACIDS RESEARCH. 2012;40(22):11308-11320

  Pr is a member of a restricted class of σ⁷⁰-dependent promoters that lack a recognizable-10 element

  del Peso-Santos T; Landfors M; Skarfstad E; Ryden P; Shingler V
• Article: BMC RESEARCH NOTES. 2012;5:648

  Sequence based analysis of U-2973, a cell line established from a double-hit B-cell lymphoma with concurrent MYC and BCL2 rearrangements.

  Hooper SD; Jiao X; Sundström E; Rehman FL; Tellgren-Roth C; Sjöblom T; Cavelier L
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2012;97(11):E2125-E2132

  Screening of Turner Syndrome with Novel Auxological Criteria Facilitates Early Diagnosis

  Saari A; Sankilampi U; Hannila M-L; Saha M-T; Makitie O; Dunkel L
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2012;97(11):4139-4147

  High-Dose Vitamin D Intervention in Infants-Effects on Vitamin D Status, Calcium Homeostasis, and Bone Strength

  Holmlund-Suila E; Viljakainen H; Hytinantti T; Lamberg-Allardt C; Andersson S; Makitie O
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2012;136(1):295-302

  Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.

  Stevens KN; Wang X; Fredericksen Z; Pankratz VS; Greene MH; Andrulis IL; Thomassen M; Caligo M; Swedish Breast Cancer Study, Sweden (SWE-BRCA); Nathanson KL; Jakubowska A; Osorio A; Hamann U; Godwin AK; Stoppa-Lyonnet D; Southey M; Buys SS; Singer CF; Hansen TVO; Arason A; Offit K; Piedmonte M; Montagna M; Imyanitov E; Tihomirova L; Sucheston L; Beattie M; HEreditary Breast and Ovarian Cancer Group Netherl; German Consortium for Hereditary Breast and Ovaria; Neuhausen SL; CONsorzio Studi ITaliani sui Tumori Ereditari Alla; Szabo CI; kConFab; Simard J; Spurdle AB; Healey S; Chen X; Rebbeck TR; Easton DF; Chenevix-Trench G; Antoniou AC; Couch FJ
• Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491

  Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation

  Zachariadis V; Schoumans J; Barbany G; Heyman M; Forestier E; Johansson B; Nordenskjold M; Nordgren A
• Article: HAEMOPHILIA. 2012;18(6):955-961

  Peripheral quantitative computed tomography (pQCT) reveals alterations in the three-dimensional bone structure in children with haemophilia

  Ranta S; Viljakainen H; Makipernaa A; Makitie O
• Article: CANCER RESEARCH. 2012;72(20):5307-5316

  Molecular Subsets of Mantle Cell Lymphoma Defined by the IGHV Mutational Status and SOX11 Expression Have Distinct Biologic and Clinical Features

  Navarro A; Clot G; Royo C; Jares P; Hadzidimitriou A; Agathangelidis A; Bikos V; Darzentas N; Papadaki T; Salaverria I; Pinyol M; Puig X; Palomero J; Carmela Vegliante M; Amador V; Martinez-Trillos A; Stefancikova L; Wiestner A; Wilson W; Pott C; Jose Calasanz M; Trim N; Erber W; Sander B; Ott G; Rosenwald A; Colomer D; Gine E; Siebert R; Lopez-Guillermo A; Stamatopoulos K; Bea S; Campo E
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2012;21(10):1783-1791

  9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

  Warren H; Dudbridge F; Fletcher O; Orr N; Johnson N; Hopper JL; Apicella C; Southey MC; Mahmoodi M; Schmidt MK; Broeks A; Cornelissen S; Braaf LM; Muir KR; Lophatananon A; Chaiwerawattana A; Wiangnon S; Fasching PA; Beckmann MW; Ekici AB; Schulz-Wendtland R; Sawyer EJ; Tomlinson I; Kerin M; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Guenel P; Therese T; Laurent-Puig P; Mulot C; Bojesen SE; Nielsen SF; Flyger H; Nordestgaard BG; Milne RL; Benitez J; Arias-Perez J-I; Pilar Zamora M; Anton-Culver H; Ziogas A; Bernstein L; Dur CC; Brenner H; Mueller H; Arndt V; Langheinz A; Meindl A; Golatta M; Bartram CR; Schmutzler RK; Brauch H; Justenhoven C; Bruening T; Chang-Claude J; Wang-Gohrke S; Eilber U; Doerk T; Schuermann P; Bremer M; Hillemanns P; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Bogdanova N; Antonenkova N; Rogov Y; Bermisheva M; Prokofyeva D; Zinnatullina G; Khusnutdinova E; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Hartikainen JM; Kataja V; Chenevix-Trench G; Beesley J; Chen X; Lambrechts D; Smeets A; Paridaens R; Weltens C; Flesch-Janys D; Buck K; Behrens S; Peterlongo P; Bernard L; Manoukian S; Radice P; Couch FJ; Vachon C; Wang X; Olson J; Giles G; Baglietto L; McLean CA; Severi G; John EM; Miron A; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Mulligan AM; Weerasooriya N; Devilee P; Tollenaar RAEM; Martens JWM; Seynaeve CM; Hooning MJ; Hollestelle A; Jager A; Tilanus-Linthorst MMA; Hall P; Czene K; Liu J; Li J; Cox A; Cross SS; Brock IW; Reed MWR; Pharoah P; Blows FM; Dunning AM; Ghous-saini M; Ashworth A; Swerdlow A; Jones M; Schoemaker M; Easton DF; Humphreys M; Wang Q; Peto J; dos-Santos-Silva I
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2012;55(10):515-519

  Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis

  Korvala J; Loija M; Makitie O; Sochett E; Juppner H; Schnabel D; Mora S; Cole WG; Ala-Kokko L; Mannikko M
• Article: HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK. 2012;34(10):1450-1455

  High prevalence of vitamin D insufficiency in patients with head and neck cancer at diagnosis

  Orell-Kotikangas H; Schwab U; Osterlund P; Saarilahti K; Makitie O; Makitie AA
• Article: HUMAN MOLECULAR GENETICS. 2012;21(17):3926-3939

  The role of genetic breast cancer susceptibility variants as prognostic factors

  Fasching PA; Pharoah PDP; Cox A; Nevanlinna H; Bojesen SE; Karn T; Broeks A; van Leeuwen FE; van 't Veer LJ; Udo R; Dunning AM; Greco D; Aittomaki K; Blomqvist C; Shah M; Nordestgaard BG; Flyger H; Hopper JL; Southey MC; Apicella C; Garcia-Closas M; Sherman M; Lissowska J; Seynaeve C; Huijts PEA; Tollenaar RAEM; Ziogas A; Ekici AB; Rauh C; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Andrulis IL; Ozcelik H; Mulligan A-M; Glendon G; Hall P; Czene K; Liu J; Chang-Claude J; Wang-Gohrke S; Eilber U; Nickels S; Doerk T; Schiekel M; Bremer M; Park-Simon T-W; Giles GG; Severi G; Baglietto L; Hooning MJ; Martens JWM; Jager A; Kriege M; Lindblom A; Margolin S; Couch FJ; Stevens KN; Olson JE; Kosei M; Cross SS; Balasubramanian SP; Reed MWR; Miron A; John EM; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Kauppila S; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Chenevix-Trench G; Lambrechts D; Dieudonne A-S; Hatse S; van Limbergen E; Benitez J; Milne RL; Pilar Zamora M; Arias Perez JI; Bonanni B; Peissel B; Loris B; Peterlongo P; Rajaraman P; Schonfeld SJ; Anton-Culver H; Devilee P; Beckmann MW; Slamon DJ; Phillips K-A; Figueroa JD; Humphreys MK; Easton DF; Schmidt MK
• Article: FAMILIAL CANCER. 2012;11(3):371-379

  The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees' outcome

  Platten U; Rantala J; Lindblom A; Brandberg Y; Lindgren G; Arver B
• Article: PEDIATRIC TRANSPLANTATION. 2012;16(6):E241-E245

  Donor cell-derived acute myeloid leukemia after second allogenic cord blood transplantation in a patient with Fanconi anemia

  Gustafsson B; Moell J; LeBlanc K; Barbany G; Soderhall S; Winiarski J
• Article: PLOS ONE. 2012;7(8):e42380

  Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

  Hein R; Maranian M; Hopper JL; Kapuscinski MK; Southey MC; Park DJ; Schmidt MK; Broeks A; Hogervorst FBL; Bueno-de-Mesquit HB; Muir KR; Lophatananon A; Rattanamongkongul S; Puttawibul P; Fasching PA; Hein A; Ekici AB; Beckmann MW; Fletcher O; Johnson N; Silva IDS; Peto J; Sawyer E; Tomlinson I; Kerin M; Miller N; Marmee F; Schneeweiss A; Sohn C; Burwinkel B; Guenel P; Cordina-Duverger E; Menegaux F; Truong T; Bojesen SE; Nordestgaard BG; Flyger H; Milne RL; Arias Perez JI; Pilar Zamora M; Benitez J; Anton-Culver H; Ziogas A; Bernstein L; Clarke CA; Brenner H; Mueller H; Arndt V; Stegmaier C; Rahman N; Seal S; Turnbull C; Renwick A; Meindl A; Schott S; Bartram CR; Schmutzler RK; Brauch H; Hamann U; Ko Y-D; Wang-Gohrke S; Doerk T; Schuermann P; Karstens JH; Hillemanns P; Nevanlinna H; Heikkinen T; Aittomaki K; Blomqvist C; Bogdanova NV; Zalutsky IV; Antonenkova NN; Bermisheva M; Prokovieva D; Farahtdinova A; Khusnutdinova E; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen J; Chen X; Beesley J; Lambrechts D; Zhao H; Neven P; Wildiers H; Nickels S; Flesch-Janys D; Radice P; Peterlongo P; Manoukian S; Barile M; Couch FJ; Olson JE; Wang X; Fredericksen Z; Giles GG; Baglietto L; McLean CA; Severi G; Offit K; Robson M; Gaudet MM; Vijai J; Alnaes GG; Kristensen V; Borresen-Dale A-L; John EM; Miron A; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Figueroa JD; Garcia-Closas M; Lissowska J; Sherman ME; Hooning M; Martens JWM; Seynaeve C; Collee M; Hall P; Humpreys K; Czene K; Liu J; Cox A; Brock IW; Cross SS; Reed MWR; Ahmed S; Ghoussaini M; Pharoah PDP; Kang D; Yoo K-Y; Noh D-Y; Jakubowska A; Jaworska K; Durda K; Zlowocka E; Sangrajrang S; Gaborieau V; Brennan P; McKay J; Shen C-Y; Yu J-C; Hsu H-M; Hou M-F; Orr N; Schoemaker M; Ashworth A; Swerdlow A; Trentham-Dietz A; Newcomb PA; Titus L; Egan KM; Chenevix-Trench G; Antoniou AC; Humphreys MK; Morrison J; Chang-Claude J; Easton DF; Dunning AM
• Article: CALCIFIED TISSUE INTERNATIONAL. 2012;91(2):121-130

  Impaired Bone Health in Inflammatory Bowel Disease: A Case-Control Study in 80 Pediatric Patients

  Laakso S; Valta H; Verkasalo M; Toiviainen-Salo S; Viljakainen H; Makitie O
• Article: JOURNAL OF MEDICAL GENETICS. 2012;49(8):525-532

  BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

  Spurdle AB; Whiley PJ; Thompson B; Feng B; Healey S; Brown MA; Pettigrew C; Van Asperen CJ; Ausems MGEM; Kattentidt-Mouravieva AA; van den Ouweland AMW; Lindblom A; Pigg MH; Schmutzler RK; Engel C; Meindl A; Caputo S; Sinilnikova OM; Lidereau R; Couch FJ; Guidugli L; Hansen TVO; Thomassen M; Eccles DM; Tucker K; Benitez J; Domchek SM; Toland AE; Van Rensburg EJ; Wappenschmidt B; Borg A; Vreeswijk MPG; Goldgar DE
• Article: ANTICANCER RESEARCH. 2012;32(8):3125-3136

  Screening for Cytotoxic Compounds in Poor-prognostic Chronic Lymphocytic Leukemia

  Norberg M; Lindhagen E; Kanduri M; Rickardson L; Sundstrom C; Stamatopoulos K; Rosenquist R; Aleskog A
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2012;21(8):1362-1370

  A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

  Ding YC; McGuffog L; Healey S; Friedman E; Laitman Y; Shani-Paluch-Shimon; Kaufman B; Liljegren A; Lindblom A; Olsson H; Kristoffersson U; Stenmark-Askmalm M; Melin B; Domchek SM; Nathanson KL; Rebbeck TR; Jakubowska A; Lubinski J; Jaworska K; Durda K; Gronwald J; Huzarski T; Cybulski C; Byrski T; Osorio A; Ramony Cajal T; Stavropoulou AV; Benitez J; Hamann U; Rookus M; Aalfs CM; de Lange JL; Meijers-Heijboer HEJ; Oosterwijk JC; van Asperen CJ; Garcia EBG; Hoogerbrugge N; Jager A; van der Luijt RB; Easton DF; Peock S; Frost D; Ellis SD; Platte R; Fineberg E; Evans DG; Lalloo F; Izatt L; Eeles R; Adlard J; Davidson R; Eccles D; Cole T; Cook J; Brewer C; Tischkowitz M; Godwin AK; Pathak H; Stoppa-Lyonnet D; Sinilnikova OM; Mazoyer S; Barjhoux L; Leone M; Gauthier-Villars M; Caux-Moncoutier V; de Pauw A; Hardouin A; Berthet P; Dreyfus H; Ferrer SF; Collonge-Rame M-A; Sokolowska J; Buys S; Daly M; Miron A; Terry MB; Chung W; John EM; Southey M; Goldgar D; Singer CF; Tea M-KM; Gschwantler-Kaulich D; Fink-Retter A; Hansen TVO; Ejlertsen B; Johannsson OT; Offit K; Sarrel K; Gaudet MM; Vijai J; Robson M; Piedmonte MR; Andrews L; Cohn D; DeMars LR; DiSilvestro P; Rodriguez G; Toland AE; Montagna M; Agata S; Imyanitov E; Isaacs C; Janavicius R; Lazaro C; Blanco I; Ramus SJ; Sucheston L; Karlan BY; Gross J; Ganz PA; Beattie MS; Schmutzler RK; Wappenschmidt B; Meindl A; Arnold N; Niederacher D; Preisler-Adams S; Gadzicki D; Varon-Mateeva R; Deissler H; Gehrig A; Sutter C; Kast K; Nevanlinna H; Aittomaki K; Simard J; Spurdle AB; Beesley J; Chen X; Tomlinson GE; Weitzel J; Garber JE; Olopade OI; Rubinstein WS; Tung N; Blum JL; Narod SA; Brummel S; Gillen DL; Lindor N; Fredericksen Z; Pankratz VS; Couch FJ; Radice P; Peterlongo P; Greene MH; Loud JT; Mai PL; Andrulis IL; Glendon G; Ozcelik H; Gerdes A-M; Thomassen M; Jensen UB; Skytte A-B; Caligo MA; Lee A; Chenevix-Trench G; Antoniou AC; Neuhausen SL
• Article: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2012;34(6):e253-e257

  Monitoring of pediatric patients with malignant hematological diseases after allogeneic HSCT: Serbian experience.

  Krstic AD; Stojkovic O; Guc-Scekic M; Jevtic D; Zecevic Z; Vujic DS
• Article: LEUKEMIA. 2012;26(8):1821-1828

  The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation

  Lion T; Watzinger F; Preuner S; Kreyenberg H; Tilanus M; de Weger R; van Loon J; de Vries L; Cave H; Acquaviva C; Lawler M; Crampe M; Serra A; Saglio B; Colnaghi F; Biondi A; van Dongen JJM; van der Burg M; Gonzalez M; Alcoceba M; Barbany G; Hermanson M; Roosnek E; Steward C; Harvey J; Frommlet F; Bader P
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2012;87(8):760-765

  Early landmark analysis of imatinib treatment in CML chronic phase: Less than 10% BCR-ABL by FISH at 3 months associated with improved long-term clinical outcome

  Ohm L; Arvidsson I; Barbany G; Hast R; Stenke L
• Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2012;167(2):181-187

  Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors

  de Laat JM; Tham E; Pieterman CRC; Vriens MR; Dorresteijn JAN; Bots ML; Nordenskjold M; van der Luijt RB; Valk GD
• Article: JOURNAL OF GENETIC COUNSELING. 2012;21(4):510-526

  What Information Do Cancer Genetic Counselees Prioritize?

  Roshanai AH; Lampic C; Ingvoldstad C; Askmalm MS; Bjorvatn C; Rosenquist R; Nordin K
• Doctoral thesis: 2012

  Genetic predisposition for cancer : genes and genetic counseling

  Rantala J
• Article: BLOOD. 2012;120(4):768-777

  Single-stranded DNA oligonucleotides inhibit TLR3-mediated responses in human monocyte-derived dendritic cells and in vivo in cynomolgus macaques

  Skold AE; Hasan M; Vargas L; Saidi H; Bosquet N; Le Grand R; Smith CIE; Spetz A-L
• Article: PLOS ONE. 2012;7(7):e41334

  Fibroblast EXT1-Levels Influence Tumor Cell Proliferation and Migration in Composite Spheroids

  Osterholm C; Lu N; Liden A; Karlsen TV; Gullberg D; Reed RK; Kusche-Gullberg M
• Article: PLOS ONE. 2012;7(7):e40090

  Vitamin D Is a Major Determinant of Bone Mineral Density at School Age

  Pekkinen M; Viljakainen H; Saarnio E; Lamberg-Allardt C; Makitie O
• Article: LEUKEMIA. 2012;26(7):1638-1646

  Over 30% of patients with splenic marginal zone lymphoma express the same immunoglobulin heavy variable gene: ontogenetic implications.

  Bikos V; Darzentas N; Hadzidimitriou A; Davis Z; Hockley S; Traverse-Glehen A; Algara P; Santoro A; Gonzalez D; Mollejo M; Dagklis A; Gangemi F; Bosler DS; Bourikas G; Anagnostopoulos A; Tsaftaris A; Iannitto E; Ponzoni M; Felman P; Berger F; Belessi C; Ghia P; Papadaki T; Dogan A; Degano M; Matutes E; Piris MA; Oscier D; Stamatopoulos K
• Article: LEUKEMIA RESEARCH. 2012;36(7):936-938

  Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

  Barbany G; Andersen MK; Autio K; Borgstrom G; Franco LC; Golovleva I; Heim S; Heinonen K; Hovland R; Johansson B; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E
• Article: HUMAN MUTATION. 2012;33(7):1063-1066

  A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

  Laurell T; VanderMeer JE; Wenger AM; Grigelioniene G; Nordenskjold A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
• Article: HUMAN MUTATION. 2012;33(7):1123-1132

  11q13 is a susceptibility locus for hormone receptor positive breast cancer

  Lambrechts D; Truong T; Justenhoven C; Humphreys MK; Wang J; Hopper JL; Dite GS; Apicella C; Southey MC; Schmidt MK; Broeks A; Cornelissen S; van Hien R; Sawyer E; Tomlinson I; Kerin M; Miller N; Milne RL; Pilar Zamora M; Arias Perez JI; Benitez J; Hamann U; Ko Y-D; Bruening T; Chang-Claude J; Eilber U; Hein R; Nickels S; Flesch-Janys D; Wang-Gohrke S; John EM; Miron A; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Chenevix-Trench G; Beesley J; Chen X; Menegaux F; Cordina-Duverger E; Shen C-Y; Yu J-C; Wu P-E; Hou M-F; Andrulis IL; Selander T; Glendon G; Mulligan AM; Anton-Culver H; Ziogas A; Muir KR; Lophatananon A; Rattanamongkongul S; Puttawibul P; Jones M; Orr N; Ashworth A; Swerdlow A; Severi G; Baglietto L; Giles G; Southey M; Marme F; Schneeweiss A; Sohn C; Burwinkel B; Yesilyurt BT; Neven P; Paridaens R; Wildiers H; Brenner H; Mueller H; Arndt V; Stegmaier C; Meindl A; Schott S; Bartram CR; Schmutzler RK; Cox A; Brock IW; Elliott G; Cross SS; Fasching PA; Schulz-Wendtland R; Ekici AB; Beckmann MW; Fletcher O; Johnson N; Silva IDS; Peto J; Nevanlinna H; Muranen TA; Aittomaki K; Blomqvist C; Doerk T; Schuermann P; Bremer M; Hillemanns P; Bogdanova NV; Antonenkova NN; Rogov YI; Karstens JH; Khusnutdinova E; Bermisheva M; Prokofieva D; Gancev S; Jakubowska A; Lubinski J; Jaworska K; Durda K; Nordestgaard BG; Bojesen SE; Lanng C; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Radice P; Peterlongo P; Manoukian S; Bernard L; Couch FJ; Olson JE; Wang X; Fredericksen Z; Alnaes GG; Kristensen V; Borresen-Dale A-L; Devilee P; Tollenaar RAEM; Seynaeve CM; Hooning MJ; Garcia-Closas M; Chanock SJ; Lissowska J; Sherman ME; Hall P; Liu J; Czene K; Kang D; Yoo K-Y; Noh D-Y; Lindblom A; Margolin S; Dunning AM; Pharoah PDP; Easton DF; Guenel P; Brauch H
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2012;87(7):737-740

  Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia

  Mansouri L; Gunnarsson R; Sutton L-A; Ameur A; Hooper SD; Mayrhofer M; Juliusson G; Isaksson A; Gyllensten U; Rosenquist R
• Conference publication: HAEMOPHILIA. 2012;18:126

  Does Prophylaxis Have an Effect on Bone Strength Beyond Physical Activity?

  Ranta S; Viljakainen H; Makipernaa A; Makitie O
• Article: PLOS ONE. 2012;7(6):e35706

  Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

  Kirchhoff T; Gaudet MM; Antoniou AC; McGuffog L; Humphreys MK; Dunning AM; Bojesen SE; Nordestgaard BG; Flyger H; Kang D; Yoo K-Y; Noh D-Y; Ahn S-H; Dork T; Schuermann P; Karstens JH; Hillemanns P; Couch FJ; Olson J; Vachon C; Wang X; Cox A; Brock I; Elliott G; Reed MWR; Burwinkel B; Meindl A; Brauch H; Hamann U; Ko Y-D; Broeks A; Schmidt MK; Van 't Veer LJ; Braaf LM; Johnson N; Fletcher O; Gibson L; Peto J; Turnbull C; Seal S; Renwick A; Rahman N; Wu P-E; Yu J-C; Hsiung C-N; Shen C-Y; Southey MC; Hopper JL; Hammet F; Van Dorpe T; Dieudonne A-S; Hatse S; Lambrechts D; Andrulis IL; Bogdanova N; Antonenkova N; Rogov JI; Prokofieva D; Bermisheva M; Khusnutdinova E; van Asperen CJ; Tollenaar RAEM; Hooning MJ; Devilee P; Margolin S; Lindblom A; Milne RL; Ignacio Arias J; Pilar Zamora M; Benitez J; Severi G; Baglietto L; Giles GG; Spurdle AB; Beesley J; Chen X; Holland H; Healey S; Wang-Gohrke S; Chang-Claude J; Mannermaa A; Kosma V-M; Kauppinen J; Kataja V; Agnarsson BA; Caligo MA; Godwin AK; Nevanlinna H; Heikkinen T; Fredericksen Z; Lindor N; Nathanson KL; Domchek SM; Loman N; Karlsson P; Askmalm MS; Melin B; von Wachenfeldt A; Hogervorst FBL; Verheus M; Rookus MA; Seynaeve C; Oldenburg RA; Ligtenberg MJ; Ausems MGEM; Aalfs CM; Gille HJP; Wijnen JT; Garcia EBG; Peock S; Cook M; Oliver CT; Frost D; Luccarini C; Pichert G; Davidson R; Chu C; Eccles D; Ong K-R; Cook J; Douglas F; Hodgson S; Evans DG; Eeles R; Gold B; Pharoah PDP; Offit K; Chenevix-Trench G; Easton DF
• Article: BMC MEDICAL GENOMICS. 2012;5:22

  Relation between smoking history and gene expression profiles in lung adenocarcinomas

  Staaf J; Jonsson G; Jonsson M; Karlsson A; Isaksson S; Salomonsson A; Pettersson HM; Soller M; Ewers S-B; Johansson L; Jonsson P; Planck M
• Article: BRITISH JOURNAL OF CANCER. 2012;106(12):2016-2024

  Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

  Jakubowska A; Rozkrut D; Antoniou A; Hamann U; Scott RJ; McGuffog L; Healy S; Sinilnikova OM; Rennert G; Lejbkowicz F; Flugelman A; Andrulis IL; Glendon G; Ozcelik H; Thomassen M; Paligo M; Aretini P; Kantala J; Aroer B; Von Wachenfeldt A; Liljegren A; Loman N; Herbst K; Kristoffersson U; Rosenquist R; Karlsson P; Stenmark-Askmalm M; Melin B; Nathanson KL; Domchek SM; Byrski T; Huzarski T; Gronwald J; Menkiszak J; Cybulski C; Serrano P; Osorio A; Cajal TR; Tsitlaidou M; Benitez J; Gilbert M; Rookus M; Aalfs CM; Kluijt I; Boessenkool-Pape JL; Meijers-Heijboer HEJ; Oosterwijk JC; van Asperen CJ; Blok MJ; Nelen MR; van den Ouweland AMW; Seynaeve C; van der Luijt RB; Devilee P; Easton DF; Peock S; Frost D; Platte R; Ellis SD; Fineberg E; Evans DG; Lalloo F; Eeles R; Jacobs C; Adlard J; Davidson R; Eccles D; Cole T; Cook J; Godwin A; Bove B; Stoppa-Lyonnet D; Caux-Moncoutier V; Belotti M; Tirapo C; Mazoyer S; Barjhoux L; Boutry-Kryza N; Pujol P; Coupier I; Peyrat J-P; Vennin P; Muller D; Fricker J-P; Venat-Bouvet L; Johannsson O; Isaacs C; Schmutzler R; Wappenschmidt B; Meindl A; Arnold N; Varon-Mateeva R; Niederacher D; Sutter C; Deissler H; Preisler-Adams S; Simard J; Soucy P; Durocher F; Chenevix-Trench G; Beesley J; Chen X; Rebbeck T; Couch F; Wang X; Lindor N; Fredericksen Z; Pankratz VS; Peterlongo P; Bonanni B; Fortuzzi S; Peissel B; Szabo C; Mai PL; Loud JT; Lubinski J
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(6):1252-1261

  Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics

  Laine CM; Koltin D; Susic M; Varley TL; Daneman A; Moineddin R; Cole WG; Makitie O; Sochett E
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2012;27(6):1413-1424

  Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study

  Mayranpaa MK; Viljakainen HT; Toiviainen-Salo S; Kallio PE; Makitie O
• Article: JOURNAL OF GASTROENTEROLOGY. 2012;47(6):619-634

  Analysis of colorectal cancer morphology in relation to sex, age, location, and family history.

  Ghazi S; Lindforss U; Lindberg G; Berg E; Lindblom A; Papadogiannakis N; Low-Risk Colorectal Cancer Study Group
• Article: CLINICAL LYMPHOMA MYELOMA & LEUKEMIA. 2012;12(3):201-206

  IGHV3-21 Gene Frequency in a Swedish Cohort of Patients With Newly Diagnosed Chronic Lymphocytic Leukemia

  Cahill N; Sutton L-A; Jansson M; Murray F; Mansouri L; Gunnarsson R; Ryan F; Smedby KE; Geisler C; Juliusson G; Rosenquist R
• Article: AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY. 2012;302(11):L1159-L1166

  Antenatal imatinib treatment reduces pulmonary vascular remodeling in a rat model of congenital diaphragmatic hernia

  Chang Y-T; Uggla AR; Osterholm C; Phan-Kiet T; Eklof A-C; Lengquist M; Hedin U; Tran-Lundmark K; Frenckner B
• Conference publication: INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY. 2012;15:167

  Antagonist dissociation from dopamine D2 receptors - dopamine stabilizers unbind faster than clozapine and quetiapine

  Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Arhem P
• Article: NATURE GENETICS. 2012;44(7):770-U197

  Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

  Dunlop MG; Dobbins SE; Farrington SM; Jones AM; Palles C; Whiffin N; Tenesa A; Spain S; Broderick P; Ooi L-Y; Domingo E; Smillie C; Henrion M; Frampton M; Martin L; Grimes G; Gorman M; Semple C; Ma YP; Barclay E; Prendergast J; Cazier J-B; Olver B; Penegar S; Lubbe S; Chander I; Carvajal-Carmona LG; Ballereau S; Lloyd A; Vijayakrishnan J; Zgaga L; Rudan I; Theodoratou E; Colorectal Tumour Gene Identification (CORGI) Cons; Starr JM; Deary I; Kirac I; Kovacević D; Aaltonen LA; Renkonen-Sinisalo L; Mecklin J-P; Matsuda K; Nakamura Y; Okada Y; Gallinger S; Duggan DJ; Conti D; Newcomb P; Hopper J; Jenkins MA; Schumacher F; Casey G; Easton D; Shah M; Pharoah P; Lindblom A; Liu T; Swedish Low-Risk Colorectal Cancer Study Group; Smith CG; West H; Cheadle JP; COIN Collaborative Group; Midgley R; Kerr DJ; Campbell H; Tomlinson IP; Houlston RS
• Article: BLOOD. 2012;119(19):4467-4475

  Stereotyped B-cell receptors in one-third of chronic lymphocytic leukemia: a molecular classification with implications for targeted therapies

  Agathangelidis A; Darzentas N; Hadzidimitriou A; Brochet X; Murray F; Yan X-J; Davis Z; van Gastel-Mol EJ; Tresoldi C; Chu CC; Cahill N; Giudicelli V; Tichy B; Pedersen LB; Foroni L; Bonello L; Janus A; Smedby K; Anagnostopoulos A; Merle-Beral H; Laoutaris N; Juliusson G; di Celle PF; Pospisilova S; Jurlander J; Geisler C; Tsaftaris A; Lefranc M-P; Langerak AW; Oscier DG; Chiorazzi N; Belessi C; Davi F; Rosenquist R; Ghia P; Stamatopoulos K
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2012;27(5):1142-1149

  Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

  Arponen H; Makitie O; Haukka J; Ranta H; Ekholm M; Mayranpaa MK; Kaitila I; Waltimo-Siren J
• Letter: LEUKEMIA. 2012;26(5):1127-1131

  Antigen receptor stereotypy across B-cell lymphoproliferations: the case of IGHV4-59/IGKV3-20 receptors with rheumatoid factor activity

  Kostareli E; Gounari M; Janus A; Murray F; Brochet X; Giudicelli V; Pospisilova S; Oscier D; Foroni L; di Celle PF; Tichy B; Pedersen LB; Jurlander J; Ponzoni M; Kouvatsi A; Anagnostopoulos A; Thompson K; Darzentas N; Lefranc M-P; Belessi C; Rosenquist R; Davi F; Ghia P; Stamatopoulos K
• Meeting abstract: BONE. 2012;50:S56-S57

  Serum osteocalcin is associated with markers of insulin resistance in young adults

  Paldanius PM; Ivaska K; Hovi P; Andersson S; Eriksson JG; Vaananen K; Kajantie E; Makitie O
• Conference publication: JOURNAL OF IMMUNOLOGY. 2012;188:109.6

  Altered class switch recombination junctions in patients with deficiency in Mlh1 and Brca1

  Bjorkman A; Du L; Lindblom A; Pan-Hammarstrom Q
• Article: BMC MEDICAL GENETICS. 2012;13:26

  Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

  Korvala J; Jueppner H; Makitie O; Sochett E; Schnabel D; Mora S; Bartels CF; Warman ML; Deraska D; Cole WG; Hartikka H; Ala-Kokko L; Mannikko M
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(4):720-725

  Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients

  Sorensen KM; El-Segaier M; Fernlund E; Errami A; Bouvagnet P; Nehme N; Steensberg J; Hjortdal V; Soller M; Behjati M; Werge T; Kirchoff M; Schouten J; Tommerup N; Andersen PS; Larsen LA
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2012;21(4):645-657

  Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

  Couch FJ; Gaudet MM; Antoniou AC; Ramus SJ; Kuchenbaecker KB; Soucy P; Beesley J; Chen X; Wang X; Kirchhoff T; McGuffog L; Barrowdale D; Lee A; Healey S; Sinilnikova OM; Andrulis IL; Ozcelik H; Mulligan AM; Thomassen M; Gerdes A-M; Jensen UB; Skytte A-B; Kruse TA; Caligo MA; von Wachenfeldt A; Barbany-Bustinza G; Loman N; Soller M; Ehrencrona H; Karlsson P; Nathanson KL; Rebbeck TR; Domchek SM; Jakubowska A; Lubinski J; Jaworska K; Durda K; Zlowocka E; Huzarski T; Byrski T; Gronwald J; Cybulski C; Gorski B; Osorio A; Duran M; Isabel Tejada M; Benitez J; Hamann U; Hogervorst FBL; van Os TA; van Leeuwen FE; Meijers-Heijboer HEJ; Wijnen J; Blok MJ; Kets M; Hooning MJ; Oldenburg RA; Ausems MGEM; Peock S; Frost D; Ellis SD; Platte R; Fineberg E; Evans DG; Jacobs C; Eeles RA; Adlard J; Davidson R; Eccles DM; Cole T; Cook J; Paterson J; Brewer C; Douglas F; Hodgson SV; Morrison PJ; Walker L; Porteous ME; Kennedy MJ; Side LE; Bove B; Godwin AK; Stoppa-Lyonnet D; Fassy-Colcombet M; Castera L; Cornelis F; Mazoyer S; Leone M; Boutry-Kryza N; Bressac-de Paillerets B; Caron O; Pujol P; Coupier I; Delnatte C; Akloul L; Lynch HT; Snyder CL; Buys SS; Daly MB; Terry M; Chung WK; John EM; Miron A; Southey MC; Hopper JL; Goldgar DE; Singer CF; Rappaport C; Tea M-KM; Fink-Retter A; Hansen TVO; Nielsen FC; Arason A; Vijai J; Shah S; Sarrel K; Robson ME; Piedmonte M; Phillips K; Basil J; Rubinstein WS; Boggess J; Wakeley K; Ewart-Toland A; Montagna M; Agata S; Imyanitov EN; Isaacs C; Janavicius R; Lazaro C; Blanco I; Feliubadalo L; Brunet J; Gayther SA; Pharoah PPD; Odunsi KO; Karlan BY; Walsh CS; Olah E; Teo SH; Ganz PA; Beattie MS; van Rensburg EJ; Dorfling CM; Diez O; Kwong A; Schmutzler RK; Wappenschmidt B; Engel C; Meindl A; Ditsch N; Arnold N; Heidemann S; Niederacher D; Preisler-Adams S; Gadzicki D; Varon-Mateeva R; Deissler H; Gehrig A; Sutter C; Kast K; Fiebig B; Heinritz W; Caldes T; de la Hoya M; Muranen TA; Nevanlinna H; Tischkowitz M; Spurdle AB; Neuhausen SL; Ding YC; Lindor NM; Fredericksen Z; Pankratz VS; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Barile M; Bernard L; Viel A; Giannini G; Varesco L; Radice P; Greene MH; Mai PL; Easton DF; Chenevix-Trench G; Offit K; Simard J
• Article: CANCER RESEARCH. 2012;72(7):1795-1803

  19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus

  Stevens KN; Fredericksen Z; Vachon CM; Wang X; Margolin S; Lindblom A; Nevanlinna H; Greco D; Aittomaki K; Blomqvist C; Chang-Claude J; Vrieling A; Flesch-Janys D; Sinn H-P; Wang-Gohrke S; Nickels S; Brauch H; Ko Y-D; Fischer H-P; Schmutzler RK; Meindl A; Bartram CR; Schott S; Engel C; Godwin AK; Weaver J; Pathak HB; Sharma P; Brenner H; Mueller H; Arndt V; Stegmaier C; Miron P; Yannoukakos D; Stavropoulou A; Fountzilas G; Gogas HJ; Swann R; Dwek M; Perkins A; Milne RL; Benitez J; Pilar Zamora M; Arias Perez JI; Bojesen SE; Nielsen SF; Nordestgaard BG; Flyger H; Guenel P; Therese T; Menegaux F; Cordina-Duverger E; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Sawyer E; Tomlinson I; Kerin MJ; Peto J; Johnson N; Fletcher O; dos Santos Silva I; Fasching PA; Beckmann MW; Hartmann A; Ekici AB; Lophatananon A; Muir K; Puttawibul P; Wiangnon S; Schmidt MK; Broeks A; Braaf LM; Rosenberg EH; Hopper JL; Apicella C; Park DJ; Southey MC; Swerdlow AJ; Ashworth A; Orr N; Schoemaker MJ; Anton-Culver H; Ziogas A; Bernstein L; Dur CC; Shen C-Y; Yu J-C; Hsu H-M; Hsiung C-N; Hamann U; Duennebier T; Ruediger T; Ulmer HU; Pharoah PP; Dunning AM; Humphreys MK; Wang Q; Cox A; Cross SS; Reed MW; Hall P; Czene K; Ambrosone CB; Ademuyiwa F; Hwang H; Eccles DM; Garcia-Closas M; Figueroa JD; Sherman ME; Lissowska J; Devilee P; Seynaeve C; Tollenaar RAEM; Hooning MJ; Andrulis IL; Knight JA; Glendon G; Mulligan AM; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; John EM; Miron A; Alnaes GG; Kristensen V; Borresen-Dale A-L; Giles GG; Baglietto L; McLean CA; Severi G; Kosel ML; Pankratz VS; Slager S; Olson JE; Radice P; Peterlongo P; Manoukian S; Barile M; Lambrechts D; Hatse S; Dieudonne A-S; Christiaens M-R; Chenevix-Trench G; Beesley J; Chen X; Mannermaa A; Kosma V-M; Hartikainen JM; Soini Y; Easton DF; Couch FJ
• Article: HUMAN MUTATION. 2012;33(4):690-702

  Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

  Ramus SJ; Antoniou AC; Kuchenbaecker KB; Soucy P; Beesley J; Chen X; McGuffog L; Sinilnikova OM; Healey S; Barrowdale D; Lee A; Thomassen M
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2012;132(3):1119-1126

  The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

  Laitman Y; Kuchenbaecker KB; Rantala J; Hogervorst F; Peock S; Godwin AK; Arason A; Kirchhoff T; Offit K; Isaacs C; Schmutzler RK; Wappenschmidt B; Nevanlinna H; Chen X; Chenevix-Trench G; Healey S; Couch F; Peterlongo P; Radice P; Nathanson KL; Caligo MA; Neuhausen SL; Ganz P; Sinilnikova OM; McGuffog L; Easton DF; Antoniou AC; Wolf I; Friedman E
• Article: HUMAN MOLECULAR GENETICS. 2012;21(7):1496-1503

  Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

  Narisawa A; Komatsuzaki S; Kikuchi A; Niihori T; Aoki Y; Fujiwara K; Tanemura M; Hata A; Suzuki Y; Relton CL; Grinham J; Leung K-Y; Partridge D; Robinson A; Stone V; Gustavsson P; Stanier P; Copp AJ; Greene NDE; Tominaga T; Matsubara Y; Kure S
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2012;87(4):361-367

  Mantle cell lymphoma displays a homogenous methylation profile: A comparative analysis with chronic lymphocytic leukemia

  Halldorsdottir AM; Kanduri M; Marincevic M; Mansouri L; Isaksson A; Goransson H; Axelsson T; Agarwal P; Jernberg-Wiklund H; Stamatopoulos K; Sander B; Ehrencrona H; Rosenquist R
• Article: PHARMACOGENOMICS JOURNAL. 2012;12(2):111-118

  Association of ABCB1 polymorphisms with survival and in vitro cytotoxicty in de novo acute myeloid leukemia with normal karyotype

  Green H; Falk IJ; Lotfi K; Paul E; Hermansson M; Rosenquist R; Paul C; Nahi H
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2012;90(3):540-549

  Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

  Polvi A; Linnankivi T; Kivela T; Herva R; Keating JP; Makitie O; Pareyson D; Vainionpaa L; Lahtinen J; Hovatta I; Pihko H; Lehesjoki A-E
• Article: ACTA PAEDIATRICA. 2012;101(3):292-299

  Growth charts for monitoring postnatal growth at NICU of extreme preterm-born infants

  Horemuzova E; Soder O; Hagenas L
• Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2012;22:s29

  P.1.030 Antagonist dissociation from dopamine D2 receptors: studies using a time-resolved ion channel activation assay

  Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Århem P
• Article: BREAST CANCER RESEARCH. 2012;14(1):R33

  Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

  Antoniou AC; Kuchenbaecker KB; Soucy P; Beesley J; Chen X; McGuffog L; Lee A; Barrowdale D; Healey S; Sinilnikova OM; Caligo MA; Loman N; Harbst K; Lindblom A; Arver B; Rosenquist R; Karlsson P; Nathanson K; Domchek S; Rebbeck T; Jakubowska A; Lubinski J; Jaworska K; Durda K; Zlowowcka-Perlowska E; Osorio A; Duran M; Andres R; Benitez J; Hamann U; Hogervorst FB; van Os TA; Verhoef S; Meijers-Heijboer HEJ; Wijnen J; Garcia EBG; Ligtenberg MJ; Kriege M; Collee M; Ausems MGEM; Oosterwijk JC; Peock S; Frost D; Ellis SD; Platte R; Fineberg E; Evans DG; Lalloo F; Jacobs C; Eeles R; Adlard J; Davidson R; Cole T; Cook J; Paterson J; Douglas F; Brewer C; Hodgson S; Morrison PJ; Walker L; Rogers MT; Donaldson A; Dorkins H; Godwin AK; Bove B; Stoppa-Lyonnet D; Houdayer C; Buecher B; de Pauw A; Mazoyer S; Calender A; Leone M; Bressac-de Paillerets B; Caron O; Sobol H; Frenay M; Prieur F; Ferrer SF; Mortemousque I; Buys S; Daly M; Miron A; Terry MB; Hopper JL; John EM; Southey M; Goldgar D; Singer CF; Fink-Retter A; Tea M-K; Kaulich DG; Hansen TVO; Nielsen FC; Barkardottir RB; Gaudet M; Kirchhoff T; Joseph V; Dutra-Clarke A; Offit K; Piedmonte M; Kirk J; Cohn D; Hurteau J; Byron J; Fiorica J; Toland AE; Montagna M; Oliani C; Imyanitov E; Isaacs C; Tihomirova L; Blanco I; Lazaro C; Teule A; Del Valle J; Gayther SA; Odunsi K; Gross J; Karlan BY; Olah E; Teo S-H; Ganz PA; Beattie MS; Dorfling CM; van Rensburg EJ; Diez O; Kwong A; Schmutzler RK; Wappenschmidt B; Engel C; Meindl A; Ditsch N; Arnold N; Heidemann S; Niederacher D; Preisler-Adams S; Gadzicki D; Varon-Mateeva R; Deissler H; Gehrig A; Sutter C; Kast K; Fiebig B; Schaefer D; Caldes T; de la Hoya M; Nevanlinna H; Muranen TA; Lesperance B; Spurdle AB; Neuhausen SL; Ding YC; Wang X; Fredericksen Z; Pankratz VS; Lindor NM; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Bonanni B; Bernard L; Dolcetti R; Papi L; Ottini L; Radice P; Greene MH; Loud JT; Andrulis IL; Ozcelik H; Mulligan AM; Glendon G; Thomassen M; Gerdes A-M; Jensen UB; Skytte A-B; Kruse TA; Chenevix-Trench G; Couch FJ; Simard J; Easton DF
• Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2012;209(2):291-305

  Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

  Du L; Peng R; Bjorkman A; de Miranda NF; Rosner C; Kotnis A; Berglund M; Liu C; Rosenquist R; Enblad G; Sundstrom C; Hojjat-Farsangi M; Rabbani H; Teixeira MR; Revy P; Durandy A; Zeng Y; Gennery AR; de Villartay J-P; Pan-Hammarstrom Q
• Review: EXPERT REVIEW OF HEMATOLOGY. 2012;5(1):69-79

  RNA-based markers as prognostic factors in chronic lymphocytic leukemia

  Sevov M; Rosenquist R; Mansouri L
• Article: JOURNAL OF MEDICAL GENETICS. 2012;49(2):119-125

  Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  Klopocki E; Lohan S; Doelken SC; Stricker S; Ockeloen CW; Thiele de Aguiar RS; Lezirovitz K; Mingroni Netto RC; Jamsheer A; Shah H; Kurth I; Habenicht R; Warman M; Devriendt K; Kordass U; Hempel M; Rajab A; Maekitie O; Naveed M; Radhakrishna U; Antonarakis SE; Horn D; Mundlos S
• Article: CALCIFIED TISSUE INTERNATIONAL. 2012;90(2):90-95

  The Effect of Oral Glucose Tolerance Test on Serum Osteocalcin and Bone Turnover Markers in Young Adults

  Paldanius PM; Ivaska KK; Hovi P; Andersson S; Vaananen HK; Kajantie E; Makitie O
• Article: JOURNAL OF RHEUMATOLOGY. 2012;39(2):365-373

  Prevalence of Vertebral Compression Fractures and Associated Factors in Children and Adolescents with Severe Juvenile Idiopathic Arthritis

  Markula-Patjas KP; Valta HL; Kerttula LI; Soini IH; Honkanen VEA; Toiviainen-Salo S-M; Makitie OM
• Meeting abstract: BIOPHYSICAL JOURNAL. 2012;102(3):517A

  Dopamine D2 Receptor Antagonist Unbinding Rates Investigated using a Time-Resolved Ion Channel Activation Assay

  Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Arhem P
• Letter: BLOOD. 2012;119(4):1087-1088

  High ERG gene expression is an unfavorable prognostic marker in pediatric acute myeloid leukemia Response

  Staffas A; Kanduri M; Hovland R; Rosenquist R; Ommen HB; Abrahamsson J; Forestier E; Jahnukainen K; Jonsson OG; Zeller B; Palle J; Lonnerholm G; Hasle H; Ehrencrona H; Palmqvist L
• Article: NATURE GENETICS. 2012;44(3):319-322

  Discovery of common variants associated with low TSH levels and thyroid cancer risk

  Gudmundsson J; Sulem P; Gudbjartsson DF; Jonasson JG; Masson G; He H; Jonasdottir A; Sigurdsson A; Stacey SN; Johannsdottir H; Helgadottir HT; Li W; Nagy R; Ringel MD; Kloos RT; de Visser MCH; Plantinga TS; den Heijer M; Aguillo E; Panadero A; Prats E; Garcia-Castano A; De Juan A; Rivera F; Walters GB; Bjarnason H; Tryggvadottir L; Eyjolfsson GI; Bjornsdottir US; Holm H; Olafsson I; Kristjansson K; Kristvinsson H; Magnusson OT; Thorleifsson G; Gulcher JR; Kong A; Kiemeney LALM; Jonsson T; Hjartarson H; Mayordomo JI; Netea-Maier RT; de la Chapelle A; Hrafnkelsson J; Thorsteinsdottir U; Rafnar T; Stefansson K
• Article: NATURE GENETICS. 2012;44(3):312-U120

  Genome-wide association analysis identifies three new breast cancer susceptibility loci

  Ghoussaini M; Fletcher O; Michailidou K; Turnbull C; Schmidt MK; Dicks E; Dennis J; Wang Q; Humphreys MK; Luccarini C; Baynes C; Conroy D; Maranian M; Ahmed S; Driver K; Johnson N; Orr N; Silva IDS; Waisfisz Q; Meijers-Heijboer H; Uitterlinden AG; Rivadeneira F; Hall P; Czene K; Irwanto A; Liu J; Nevanlinna H; Aittomaki K; Blomqvist C; Meindl A; Schmutzler RK; Mueller-Myhsok B; Lichtner P; Chang-Claude J; Hein R; Nickels S; Flesch-Janys D; Tsimiklis H; Makalic E; Schmidt D; Bui M; Hopper JL; Apicella C; Park DJ; Southey M; Hunter DJ; Chanock SJ; Broeks A; Verhoef S; Hogervorst FBL; Fasching PA; Lux MP; Beckmann MW; Ekici AB; Sawyer E; Tomlinson I; Kerin M; Marme F; Schneeweiss A; Sohn C; Burwinkel B; Guenel P; Truong T; Cordina-Duverger E; Menegaux F; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Milne RL; Rosario Alonso M; Gonzalez-Neira A; Benitez J; Anton-Culver H; Ziogas A; Bernstein L; Dur CC; Brenner H; Mueller H; Arndt V; Stegmaier C; Justenhoven C; Brauch H; Bruening T; Wang-Gohrke S; Eilber U; Doerk T; Schuermann P; Bremer M; Hillemanns P; Bogdanova NV; Antonenkova NN; Rogov YI; Karstens JH; Bermisheva M; Prokofieva D; Khusnutdinova E; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen JM; Lambrechts D; Yesilyurt BT; Floris G; Leunen K; Manoukian S; Bonanni B; Fortuzzi S; Peterlongo P; Couch FJ; Wang X; Stevens K; Lee A; Giles GG; Baglietto L; Severi G; McLean C; Alnaes GG; Kristensen V; Borrensen-Dale A-L; John EM; Miron A; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Kauppila S; Andrulis IL; Glendon G; Mulligan AM; Devilee P; van Asperen CJ; Tollenaar RAEM; Seynaeve C; Figueroa JD; Garcia-Closas M; Brinton L; Lissowska J; Hooning MJ; Hollestelle A; Oldenburg RA; van den Ouweland AMW; Cox A; Reed MWR; Shah M; Jakubowska A; Lubinski J; Jaworska K; Durda K; Jones M; Schoemaker M; Ashworth A; Swerdlow A; Beesley J; Chen X; Muir KR; Lophatananon A; Rattanamongkongul S; Chaiwerawattana A; Kang D; Yoo K-Y; Noh D-Y; Shen C-Y; Yu J-C; Wu P-E; Hsiung C-N; Perkins A; Swann R; Velentzis L; Eccles DM; Tapper WJ; Gerty SM; Graham NJ; Ponder BAJ; Chenevix-Trench G; Pharoah PDP; Lathrop M; Dunning AM; Rahman N; Peto J; Easton DF
• Article: ONCOIMMUNOLOGY. 2012;1(1):18-27

  Lymphoblastoid cell line with B1 cell characteristics established from a chronic lymphocytic leukemia clone by in vitro EBV infection

  Rosen A; Bergh A-C; Gogolak P; Evaldsson C; Myhrinder AL; Hellqvist E; Rasul A; Bjorkholm M; Jansson M; Mansouri L; Liu A; Teh BT; Rosenquist R; Klein E
• Article: PLOS GENETICS. 2012;8(11):e1003059

  Lamin B1 Polymorphism Influences Morphology of the Nuclear Envelope, Cell Cycle Progression, and Risk of Neural Tube Defects in Mice

  De Castro SCP; Malhas A; Leung K-Y; Gustavsson P; Vaux DJ; Copp AJ; Greene NDE
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2012;21(1):134-147

  Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

  Mavaddat N; Barrowdale D; Andrulis IL; Domchek SM; Eccles D; Nevanlinna H; Ramus SJ; Spurdle A; Robson M; Sherman M; Mulligan AM; Couch FJ; Engel C; McGuffog L; Healey S; Sinilnikova OM; Southey MC; Terry MB; Goldgar D; O'Malley F; John EM; Janavicius R; Tihomirova L; Hansen TVO; Nielsen FC; Osorio A; Stavropoulou A; Benitez J; Manoukian S; Peissel B; Barile M; Volorio S; Pasini B; Dolcetti R; Putignano AL; Ottini L; Radice P; Hamann U; Rashid MU; Hogervorst FB; Kriege M; van der Luijt RB; Peock S; Frost D; Evans DG; Brewer C; Walker L; Rogers MT; Side LE; Houghton C; Weaver J; Godwin AK; Schmutzler RK; Wappenschmidt B; Meindl A; Kast K; Arnold N; Niederacher D; Sutter C; Deissler H; Gadzicki D; Preisler-Adams S; Varon-Mateeva R; Schoenbuchner I; Gevensleben H; Stoppa-Lyonnet D; Belotti M; Barjhoux L; Isaacs C; Peshkin BN; Caldes T; de la Hoya M; Canadas C; Heikkinen T; Heikkila P; Aittomaki K; Blanco I; Lazaro C; Brunet J; Agnarsson BA; Arason A; Barkardottir RB; Dumont M; Simard J; Montagna M; Agata S; D'Andrea E; Yan M; Fox S; Rebbeck TR; Rubinstein W; Tung N; Garber JE; Wang X; Fredericksen Z; Pankratz VS; Lindor NM; Szabo C; Offit K; Sakr R; Gaudet MM; Singer CF; Tea M-K; Rappaport C; Mai PL; Greene MH; Sokolenko A; Imyanitov E; Toland AE; Senter L; Sweet K; Thomassen M; Gerdes A-M; Kruse T; Caligo M; Aretini P; Rantala J; von Wachenfeld A; Henriksson K; Steele L; Neuhausen SL; Nussbaum R; Beattie M; Odunsi K; Sucheston L; Gayther SA; Nathanson K; Gross J; Walsh C; Karlan B; Chenevix-Trench G; Easton DF; Antoniou AC
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2012;77(2):115-120

  Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment

  Tuysuz B; Bursali A; Alp Z; Suyugul N; Laine CM; Makitie O
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2012;77(5):281-290

  Breastfeeding and Determinants of Adult Body Composition: A Prospective Study from Birth to Young Adulthood

  Pirila S; Saarinen-Pihkala UM; Viljakainen H; Turanlahti M; Kajosaari M; Makitie O; Taskinen M
• Article: JOURNAL OF PEDIATRICS. 2012;160(1):140-146

  The Thoracic and Lumbar Spine in Severe Juvenile Idiopathic Arthritis: Magnetic Resonance Imaging Analysis in 50 Children

  Toiviainen-Salo S; Markula-Patjas K; Kerttula L; Soini I; Valta H; Makitie O
• Letter: LEUKEMIA. 2012;26(1):170-172

  Coexistence of trisomies of chromosomes 12 and 19 in chronic lymphocytic leukemia occurs exclusively in the rare IgG-positive variant

  Ibbotson R; Athanasiadou A; Sutton L-A; Davis Z; Gardiner A; Baliakas P; Gunnarsson R; Anagnostopoulos A; Juliusson G; Rosenquist R; Oscier D; Stamatopoulos K
• Article: LANCET. 2011;378(9809):2081-2087

  Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

  Burn J; Gerdes A-M; Macrae F; Mecklin J-P; Moeslein G; Olschwang S; Eccles D; Evans DG; Maher ER; Bertario L; Bisgaard M-L; Dunlop MG; Ho JWC; Hodgson SV; Lindblom A; Lubinski J; Morrison PJ; Murday V; Ramesar R; Side L; Scott RJ; Thomas HJW; Vasen HF; Barker G; Crawford G; Elliott F; Movahedi M; Pylvanainen K; Wijnen JT; Fodde R; Lynch HT; Mathers JC; Bishop DT
• Article: BRITISH JOURNAL OF CANCER. 2011;105(12):1934-1939

  Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

  Stevens KN; Garcia-Closas M; Fredericksen Z; Kosel M; Pankratz VS; Hopper JL; Dite GS; Apicella C; Southey MC; Schmidt MK; Broeks A; Van 't Veer LJ; Tollenaar RAEM; Fasching PA; Beckmann MW; Hein A; Ekici AB; Johnson N; Peto J; Silva IDS; Gibson L; Sawyer E; Tomlinson I; Kerin MJ; Chanock S; Lissowska J; Hunter DJ; Hoover RN; Thomas GD; Milne RL; Perez JIA; Gonzalez-Neira A; Benitez J; Burwinkel B; Meindl A; Schmutzler RK; Bartrar CR; Hamann U; Ko YD; Bruening T; Chang-Claude J; Hein R; Wang-Gohrke S; Doerk T; Schuermann P; Bremer M; Hillemanns P; Bogdanova N; Zalutsky JV; Rogov YI; Antonenkova N; Lindblom A; Margolin S; Mannermaa A; Kataja V; Kosma V-M; Hartikainen J; Chenevix-Trench G; Chen X; Peterlongo P; Bonanni B; Bernard L; Manoukian S; Wang X; Cerhan J; Vachon CM; Olson J; Giles GG; Baglietto L; McLean CA; Severi G; John EM; Miron A; Winqvist R; Pylkaes K; Jukkola-Vuorinen A; Grip M; Andrulis I; Knight JA; Glendon G; Mulligan AM; Cox A; Brock IW; Elliott G; Cross SS; Pharoah PP; Dunning AM; Pooley KA; Humphreys MK; Wang J; Kang D; Yoo K-Y; Noh D-Y; Sangrajrang S; Gabrieau V; Brennan P; Mckay J; Anton-Culver H; Ziogas A; Couch FJ; Easton DF
• Published conference paper: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. 2011;1242:40-55

  Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

  Dror Y; Donadieu J; Koglmeier J; Dodge J; Toiviainen-Salo S; Makitie O; Kerr E; Zeidler C; Shimamura A; Shah N; Cipolli M; Kuijpers T; Durie P; Rommens J; Siderius L; Liu JM
• Article: HUMAN MOLECULAR GENETICS. 2011;20(23):4732-4747

  Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

  Cox DG; Simard J; Sinnett D; Hamdi Y; Soucy P; Ouimet M; Barjhoux L; Verny-Pierre C; McGuffog L; Healey S; Szabo C; Greene MH; Mai PL; Andrulis IL; Thomassen M; Gerdes A-M; Caligo MA; Friedman E; Laitman Y; Kaufman B; Paluch SS; Borg A; Karlsson P; Askmalm MS; Bustinza GB; Nathanson KL; Domchek SM; Rebbeck TR; Benitez J; Hamann U; Rookus MA; van den Ouweland AMW; Ausems MGEM; Aalfs CM; van Asperen CJ; Devilee P; Gille HJJP; Peock S; Frost D; Evans DG; Eeles R; Izatt L; Adlard J; Paterson J; Eason J; Godwin AK; Remon M-A; Moncoutier V; Gauthier-Villars M; Lasset C; Giraud S; Hardouin A; Berthet P; Sobol H; Eisinger F; de Paillerets BB; Caron O; Delnatte C; Goldgar D; Miron A; Ozcelik H; Buys S; Southey MC; Terry MB; Singer CF; Dressler A-C; Tea M-K; Hansen TVO; Johannsson O; Piedmonte M; Rodriguez GC; Basil JB; Blank S; Toland AE; Montagna M; Isaacs C; Blanco I; Gayther SA; Moysich KB; Schmutzler RK; Wappenschmidt B; Engel C; Meindl A; Ditsch N; Arnold N; Niederacher D; Sutter C; Gadzicki D; Fiebig B; Caldes T; Laframboise R; Nevanlinna H; Chen X; Beesley J; Spurdle AB; Neuhausen SL; Ding YC; Couch FJ; Wang X; Peterlongo P; Manoukian S; Bernard L; Radice P; Easton DF; Chenevix-Trench G; Antoniou AC; Stoppa-Lyonnet D; Mazoyer S; Sinilnikova OM
• Letter: LEUKEMIA. 2011;25(12):1904-1908

  Impact of TP53 mutation and 17p deletion in mantle cell lymphoma

  Halldorsdottir AM; Lundin A; Murray F; Mansouri L; Knuutila S; Sundstrom C; Laurell A; Ehrencrona H; Sander B; Rosenquist R
• Article: HUMAN MOLECULAR GENETICS. 2011;20(23):4693-4706

  Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

  Figueroa JD; Garcia-Closas M; Humphreys M; Platte R; Hopper JL; Southey MC; Apicella C; Hammet F; Schmidt MK; Broeks A; Tollenaar RAEM; Van't Veer LJ; Fasching PA; Beckmann MW; Ekici AB; Strick R; Peto J; Silva IDS; Fletcher O; Johnson N; Sawyer E; Tomlinson I; Kerin M; Burwinkel B; Marme F; Schneeweiss A; Sohn C; Bojesen S; Flyger H; Nordestgaard BG; Benitez J; Milne RL; Ignacio Arias J; Pilar Zamora M; Brenner H; Mueller H; Arndt V; Rahman N; Turnbull C; Seal S; Renwick A; Brauch H; Justenhoven C; Bruening T; Chang-Claude J; Hein R; Wang-Gohrke S; Doerk T; Schuermann P; Bremer M; Hillemanns P; Nevanlinna H; Heikkinen T; Aittomaki K; Blomqvist C; Bogdanova N; Antonenkova N; Rogov YI; Karstens JH; Bermisheva M; Prokofieva D; Gantcev SH; Khusnutdinova E; Lindblom A; Margolin S; Chenevix-Trench G; Beesley J; Chen X; Mannermaa A; Kosma V-M; Soini Y; Kataja V; Lambrechts D; Yesilyurt BT; Chrisiaens M-R; Peeters S; Radice P; Peterlongo P; Manoukian S; Barile M; Couch F; Lee AM; Diasio R; Wang X; Giles GG; Severi G; Baglietto L; Maclean C; Offit K; Robson M; Joseph V; Gaudet M; John EM; Winqvist R; Pylkas K; Jukkola-Vuorinen A; Grip M; Andrulis I; Knight JA; Mulligan AM; O'Malley FP; Brinton LA; Sherman ME; Lissowska J; Chanock SJ; Hooning M; Martens JWM; van den Ouweland AMW; Collee JM; Hall P; Czene K; Cox A; Brock IW; Reed MWR; Cross SS; Pharoah P; Dunning AM; Kang D; Yoo K-Y; Noh D-Y; Ahn S-H; Jakubowska A; Lubinski J; Jaworska K; Durda K; Sangrajrang S; Gaborieau V; Brennan P; McKay J; Shen C-Y; Ding S-L; Hsu H-M; Yu J-C; Anton-Culver H; Ziogas A; Ashworth A; Swerdlow A; Jones M; Orr N; Trentham-Dietz A; Egan K; Newcomb P; Titus-Ernstoff L; Easton D; Spurdle AB
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2011;130(3):1003-1010

  Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

  Vuorela M; Pylkas K; Hartikainen JM; Sundfeldt K; Lindblom A; Wappling AVW; Haanpaa M; Puistola U; Rosengren A; Anttila M; Kosma V-M; Mannermaa A; Winqvist R
• Article: BLOOD. 2011;118(22):5905-5913

  Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia

  Staffas A; Kanduri M; Hovland R; Rosenquist R; Ommen HB; Abrahamsson J; Forestier E; Jahnukainen K; Jonsson OG; Zeller B; Palle J; Lonnerholm G; Hasle H; Palmqvist L; Ehrencrona H
• Article: JOURNAL OF THORACIC ONCOLOGY. 2011;6(11):1833-1840

  Gene Copy Number Aberrations Are Associated with Survival in Histologic Subgroups of Non-small Cell Lung Cancer

  Micke P; Edlund K; Holmberg L; Kultima HG; Mansouri L; Ekman S; Bergqvist M; Scheibenflug L; Lamberg K; Myrdal G; Berglund A; Andersson A; Lambe M; Nyberg F; Thomas A; Isaksson A; Botling J
• Review: SEMINARS IN CANCER BIOLOGY. 2011;21(5):299-307

  Unlocking the secrets of immunoglobulin receptors in mantle cell lymphoma: Implications for the origin and selection of the malignant cells

  Agathangelidis A; Hadzidimitriou A; Rosenquist R; Stamatopoulos K
• Article: NEURO-ONCOLOGY. 2011;13(11):1178-1191

  Identification of a SOX2-dependent subset of tumor- and sphere-forming glioblastoma cells with a distinct tyrosine kinase inhibitor sensitivity profile

  Hagerstrand D; He X; Lindh MB; Hoefs S; Hesselager G; Ostman A; Nister M
• Article: HUMAN MOLECULAR GENETICS. 2011;20(21):4268-4281

  European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

  Rafnar T; Vermeulen SH; Sulem P; Thorleifsson G; Aben KK; Witjes JA; Grotenhuis AJ; Verhaegh GW; Hulsbergen-van de Kaa CA; Besenbacher S; Gudbjartsson D; Stacey SN; Gudmundsson J; Johannsdottir H; Bjarnason H; Zanon C; Helgadottir H; Jonasson JG; Tryggvadottir L; Jonsson E; Geirsson G; Nikulasson S; Petursdottir V; Bishop DT; Chung-Sak S; Choudhury A; Elliott F; Barrett JH; Knowles MA; de Verdier PJ; Ryk C; Lindblom A; Rudnai P; Gurzau E; Koppova K; Vineis P; Polidoro S; Guarrera S; Sacerdote C; Panadero A; Sanz-Velez JI; Sanchez M; Valdivia G; Garcia-Prats MD; Hengstler JG; Selinski S; Gerullis H; Ovsiannikov D; Khezri A; Aminsharifi A; Malekzadeh M; van den Berg LH; Ophoff RA; Veldink JH; Zeegers MP; Kellen E; Fostinelli J; Andreoli D; Arici C; Porru S; Buntinx F; Ghaderi A; Golka K; Mayordomo JI; Matullo G; Kumar R; Steineck G; Kiltie AE; Kong A; Thorsteinsdottir U; Stefansson K; Kiemeney LA
• Review: ANNUAL REVIEW OF MICROBIOLOGY. 2011;65:37-55

  Regulation of Alternative Sigma Factor Use

  Osterberg S; del Peso-Santos T; Shingler V
• Article: NATURE GENETICS. 2011;43(11):1127-1130

  Identification of low-frequency variants associated with gout and serum uric acid levels

  Sulem P; Gudbjartsson DF; Walters GB; Helgadottir HT; Helgason A; Gudjonsson SA; Zanon C; Besenbacher S; Bjornsdottir G; Magnusson OT; Magnusson G; Hjartarson E; Saemundsdottir J; Gylfason A; Jonasdottir A; Holm H; Karason A; Rafnar T; Stefansson H; Andreassen OA; Pedersen JH; Pack AI; de Visser MCH; Kiemeney LA; Geirsson AJ; Eyjolfsson GI; Olafsson I; Kong A; Masson G; Jonsson H; Thorsteinsdottir U; Jonsdottir I; Stefansson K
• Article: NATURE GENETICS. 2011;43(11):1104-1107

  Mutations in BRIP1 confer high risk of ovarian cancer

  Rafnar T; Gudbjartsson DF; Sulem P; Jonasdottir A; Sigurdsson A; Jonasdottir A; Besenbacher S; Lundin P; Stacey SN; Gudmundsson J; Magnusson OT; le Roux L; Orlygsdottir G; Helgadottir HT; Johannsdottir H; Gylfason A; Tryggvadottir L; Jonasson JG; de Juan A; Ortega E; Ramon-Cajal JM; Garcia-Prats MD; Mayordomo C; Panadero A; Rivera F; Aben KKH; van Altena AM; Massuger LFAG; Aavikko M; Kujala PM; Staff S; Aaltonen LA; Olafsdottir K; Bjornsson J; Kong A; Salvarsdottir A; Saemundsson H; Olafsson K; Benediktsdottir KR; Gulcher J; Masson G; Kiemeney LA; Mayordomo JI; Thorsteinsdottir U; Stefansson K
• Article: JOURNAL OF MEDICAL GENETICS. 2011;48(10):698-702

  7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

  Milne RL; Lorenzo-Bermejo J; Burwinkel B; Malats N; Ignacio Arias J; Pilar Zamora M; Benitez J; Humphreys MK; Garcia-Closas M; Chanock SJ; Lissowska J; Sherman ME; Mannermaa A; Kataja V; Kosma V-M; Nevanlinna H; Heikkinen T; Aittomaki K; Blomqvist C; Anton-Culver H; Ziogas A; Devilee P; van Asperen CJ; Tollenaar RAEM; Seynaeve C; Hall P; Czene K; Liu J; Irwanto AK; Kang D; Yoo K-Y; Noh D-Y; Couch FJ; Olson JE; Wang X; Fredericksen Z; Nordestgaard BG; Bojesen SE; Flyger H; Margolin S; Lindblom A; Fasching PA; Schulz-Wendtland R; Ekici AB; Beckmann MW; Wang-Gohrke S; Shen C-Y; Yu J-C; Hsu H-M; Wu P-E; Giles GG; Severi G; Baglietto L; English DR; Cox A; Brock I; Elliott G; Reed MWR; Beesley J; Chen X; Fletcher O; Gibson L; Silva IDS; Peto J; Frank B; Heil J; Meindl A; Chang-Claude J; Hein R; Vrieling A; Flesch-Janys D; Southey MC; Smith L; Apicella C; Hopper JL; Dunning AM; Pooley KA; Pharoah PDP; Hamann U; Pesch B; Ko Y-D; Easton DF; Chenevix-Trench G
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;155(2):235-243

  Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols

  Andersen MK; Autio K; Barbany G; Borgstroem G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Johansson B; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E
• Article: FERTILITY AND STERILITY. 2011;96(4):837-842

  Semen quality and fertility in adult long-term survivors of childhood acute lymphoblastic leukemia

  Jahnukainen K; Heikkinen R; Henriksson M; Cooper TG; Puukko-Viertomies L-R; Makitie O
• Article: NATURE GENETICS. 2011;43(11):1098-1103

  A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

  Stacey SN; Sulem P; Jonasdottir A; Masson G; Gudmundsson J; Gudbjartsson DF; Magnusson OT; Gudjonsson SA; Sigurgeirsson B; Thorisdottir K; Ragnarsson R; Benediktsdottir KR; Nexo BA; Tjonneland A; Overvad K; Rudnai P; Gurzau E; Koppova K; Hemminki K; Corredera C; Fuentelsaz V; Grasa P; Navarrete S; Fuertes F; Garcia-Prats MD; Sanambrosio E; Panadero A; De Juan A; Garcia A; Rivera F; Planelles D; Soriano V; Requena C; Aben KK; van Rossum MM; Cremers RGHM; van Oort IM; van Spronsen D-J; Schalken JA; Peters WHM; Helfand BT; Donovan JL; Hamdy FC; Badescu D; Codreanu O; Jinga M; Csiki IE; Constantinescu V; Badea P; Mates IN; Dinu DE; Constantin A; Mates D; Kristjansdottir S; Agnarsson BA; Jonsson E; Barkardottir RB; Einarsson GV; Sigurdsson F; Moller PH; Stefansson T; Valdimarsson T; Johannsson OT; Sigurdsson H; Jonsson T; Jonasson JG; Tryggvadottir L; Rice T; Hansen HM; Xiao Y; Lachance DH; Neill BPO; Kosel ML; Decker PA; Thorleifsson G; Johannsdottir H; Helgadottir HT; Sigurdsson A; Steinthorsdottir V; Lindblom A; Sandler RS; Keku TO; Banasik K; Jorgensen T; Witte DR; Hansen T; Pedersen O; Jinga V; Neal DE; Catalona WJ; Wrensch M; Wiencke J; Jenkins RB; Nagore E; Vogel U; Kiemeney LA; Kumar R; Mayordomo JI; Olafsson JH; Kong A; Thorsteinsdottir U; Rafnar T; Stefansson K
• Article: BLOOD. 2011;118(11):3088-3095

  Is there a role for antigen selection in mantle cell lymphoma? Immunogenetic support from a series of 807 cases

  Hadzidimitriou A; Agathangelidis A; Darzentas N; Murray F; Delfau-Larue M-H; Pedersen LB; Navarro Lopez A; Dagklis A; Rombout P; Beldjord K; Kolstad A; Dreyling MH; Anagnostopoulos A; Tsaftaris A; Mavragani-Tsipidou P; Rosenwald A; Ponzoni M; Groenen P; Ghia P; Sander B; Papadaki T; Campo E; Geisler C; Rosenquist R; Davi F; Pott C; Stamatopoulos K
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2011;89(3):446-450

  A Variant in MCF2L Is Associated with Osteoarthritis

  Day-Williams AG; Southam L; Panoutsopoulou K; Rayner NW; Esko T; Estrada K; Helgadottir HT; Hofman A; Ingvarsson T; Jonsson H; Keis A; Kerkhof HJM; Thorleifsson G; Arden NK; Carr A; Chapman K; Deloukas P; Loughlin J; McCaskie A; Ollier WER; Ralston SH; Spector TD; Wallis GA; Wilkinson JM; Aslam N; Birell F; Carluke I; Joseph J; Rai A; Reed M; Walker K; Doherty SA; Jonsdottir I; Maciewicz RA; Muir KR; Metspalu A; Rivadeneira F; Stefansson K; Styrkarsdottir U; Uitterlinden AG; van Meurs JBJ; Zhang W; Valdes AM; Doherty M; Zeggini E
• Article: DNA REPAIR. 2011;10(9):961-969

  CK2 phosphorylation of XRCC1 facilitates dissociation from DNA and single-strand break formation during base excision repair

  Strom CE; Mortusewicz O; Finch D; Parsons JL; Lagerqvist A; Johansson F; Schultz N; Erixon K; Dianov GL; Helleday T
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2011;26(9):2226-2234

  Altered Bone Composition in Children With Vertebral Fracture

  Tamminen IS; Mayranpaa MK; Turunen MJ; Isaksson H; Makitie O; Jurvelin JS; Kroger H
• Meeting abstract: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2011;21:S511-S512

  Investigation of antagonist unbinding from dopamine D₂ receptors using a real-time ion channel activation assay

  Sahlholm K; Frisk S; Fuxe K; Arhem P
• Article: HUMAN MOLECULAR GENETICS. 2011;20(16):3289-3303

  Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

  Broeks A; Schmidt MK; Sherman ME; Couch FJ; Hopper JL; Dite GS; Apicella C; Smith LD; Hammet F; Southey MC; Van 't Veer LJ; de Groot R; Smit VTHBM; Fasching PA; Beckmann MW; Jud S; Ekici AB; Hartmann A; Hein A; Schulz-Wendtland R; Burwinkel B; Marme F; Schneeweiss A; Sinn H-P; Sohn C; Tchatchou S; Bojesen SE; Nordestgaard BG; Flyger H; Orsted DD; Kaur-Knudsen D; Milne RL; Perez JIA; Zamora P; Menendez Rodriguez P; Benitez J; Brauch H; Justenhoven C; Ko Y-D; Hamann U; Fischer H-P; Bruening T; Pesch B; Chang-Claude J; Wang-Gohrke S; Bremer M; Karstens JH; Hillemanns P; Doerk T; Nevanlinna HA; Heikkinen T; Heikkila P; Blomqvist C; Aittomaki K; Aaltonen K; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Kauppinen JM; Kataja V; Auvinen P; Eskelinen M; Soini Y; Chenevix-Trench G; Spurdle AB; Beesley J; Chen X; Holland H; Lambrechts D; Claes B; Vandorpe T; Neven P; Wildiers H; Flesch-Janys D; Hein R; Loening T; Kosel M; Fredericksen ZS; Wang X; Giles GG; Baglietto L; Severi G; McLean C; Haiman CA; Henderson BE; Le Marchand L; Kolonel LN; Alnaes GG; Kristensen V; Borresen-Dale A-L; Hunter DJ; Hankinson SE; Andrulis IL; Mulligan AM; O'Malley FP; Devilee P; Huijts PEA; Tollenaar RAEM; Van Asperen CJ; Seynaeve CS; Chanock SJ; Lissowska J; Brinton L; Peplonska B; Figueroa J; Yang XR; Hooning MJ; Hollestelle A; Oldenburg RA; Jager A; Kriege M; Ozturk B; van Leenders GJLH; Hall P; Czene K; Humphreys K; Liu J; Cox A; Connley D; Cramp HE; Cross SS; Balasubramanian SP; Reed MWR; Dunning AM; Easton DF; Humphreys MK; Caldas C; Blows F; Driver K; Provenzano E; Lubinski J; Jakubowska A; Huzarski T; Byrski T; Cybulski C; Gorski B; Gronwald J; Brennan P; Sangrajrang S; Gaborieau V; Shen C-Y; Hsiung C-N; Yu J-C; Chen S-T; Hsu G-C; Hou M-F; Huang C-S; Anton-Culver H; Ziogas A; Pharoah PDP; Garcia-Closas M
• Article: HUMAN MOLECULAR GENETICS. 2011;20(16):3304-3321

  Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

  Antoniou AC; Kartsonaki C; Sinilnikova OM; Soucy P; McGuffog L; Healey S; Lee A; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Cattaneo E; Barile M; Pensotti V; Pasini B; Dolcetti R; Giannini G; Putignano AL; Varesco L; Radice P; Mai PL; Greene MH; Andrulis IL; Glendon G; Ozcelik H; Thomassen M; Gerdes A-M; Kruse TA; Jensen UB; Crueger DG; Caligo MA; Laitman Y; Milgrom R; Kaufman B; Paluch-Shimon S; Friedman E; Loman N; Harbst K; Lindblom A; Arver B; Ehrencrona H; Melin B; Nathanson KL; Domchek SM; Rebbeck T; Jakubowska A; Lubinski J; Gronwald J; Huzarski T; Byrski T; Cybulski C; Gorski B; Osorio A; Ramon y Cajal T; Fostira F; Andres R; Benitez J; Hamann U; Hogervorst FB; Rookus MA; Hooning MJ; Nelen MR; van der Luijt RB; van Os TAM; van Asperen CJ; Devilee P; Meijers-Heijboer HEJ; Garcia EBG; Peock S; Cook M; Frost D; Platte R; Leyland J; Evans DG; Lalloo F; Eeles R; Izatt L; Adlard J; Davidson R; Eccles D; Ong K-R; Cook J; Douglas F; Paterson J; Kennedy MJ; Miedzybrodzka Z; Godwin A; Stoppa-Lyonnet D; Buecher B; Belotti M; Tirapo C; Mazoyer S; Barjhoux L; Lasset C; Leroux D; Faivre L; Bronner M; Prieur F; Nogues C; Rouleau E; Pujol P; Coupier I; Frenay M; Hopper JL; Daly MB; Terry MB; John EM; Buys SS; Yassin Y; Miron A; Goldgar D; Singer CF; Tea M-K; Pfeiler G; Dressler AC; Hansen TVO; Jonson L; Ejlertsen B; Barkardottir RB; Kirchhoff T; Offit K; Piedmonte M; Rodriguez G; Small L; Boggess J; Blank S; Basil J; Azodi M; Toland AE; Montagna M; Tognazzo S; Agata S; Imyanitov E; Janavicius R; Lazaro C; Blanco I; Pharoah PDP; Sucheston L; Karlan BY; Walsh CS; Olah E; Bozsik A; Teo S-H; Seldon JL; Beattie MS; van Rensburg EJ; Sluiter MD; Diez O; Schmutzler RK; Wappenschmidt B; Engel C; Meindl A; Ruehl I; Varon-Mateeva R; Kast K; Deissler H; Niederacher D; Arnold N; Gadzicki D; Schoenbuchner I; Caldes T; de la Hoya M; Nevanlinna H; Aittomaki K; Dumont M; Chiquette J; Tischkowitz M; Chen X; Beesley J; Spurdle AB; Neuhausen SL; Ding YC; Fredericksen Z; Wang X; Pankratz VS; Couch F; Simard J; Easton DF; Chenevix-Trench G
• Article: HAEMATOLOGICA. 2011;96(8):1161-1169

  Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia

  Gunnarsson R; Mansouri L; Isaksson A; Goransson H; Cahill N; Jansson M; Rasmussen M; Lundin J; Norin S; Buhl AM; Smedby KE; Hjalgrim H; Karlsson K; Jurlander J; Geisler C; Juliusson G; Rosenquist R
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2011;26(8):1748-1758

  Bone Biopsy Findings and Correlation With Clinical, Radiological, and Biochemical Parameters in Children With Fractures

  Mayranpaa MK; Tamminen IS; Kroger H; Makitie O
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2011;19(8):875-881

  Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

  Laine CM; Chung BD; Susic M; Prescott T; Semler O; Fiskerstrand T; D'Eufemia P; Castori M; Pekkinen M; Sochett E; Cole WG; Netzer C; Makitie O
• Article: HAEMATOLOGICA. 2011;96(8):1153-1160

  LPL is the strongest prognostic factor in a comparative analysis of RNA-based markers in early chronic lymphocytic leukemia

  Kaderi MA; Kanduri M; Buhl AM; Sevov M; Cahill N; Gunnarsson R; Jansson M; Smedby KE; Hjalgrim H; Jurlander J; Juliusson G; Mansouri L; Rosenquist R
• Article: BIOTECHNOLOGY JOURNAL. 2011;6(8):1018-1025

  Parallel production and verification of protein products using a novel high-throughput screening method.

  Tegel H; Yderland L; Boström T; Eriksson C; Ukkonen K; Vasala A; Neubauer P; Ottosson J; Hober S
• Article: NUCLEIC ACIDS RESEARCH. 2011;39(14):5853-5865

  A hyper-mutant of the unusual Σ⁷⁰-Pr promoter bypasses synergistic ppGpp/DksA co-stimulation

  del Peso-Santos T; Bernardo LMD; Skarfstad E; Holmfeldt L; Togneri P; Shingler V
• Article: BMC DEVELOPMENTAL BIOLOGY. 2011;11:43

  Two-color fluorescent in situ hybridization in the embryonic zebrafish brain using differential detection systems

  Lauter G; Soll I; Hauptmann G
• Letter: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. 2011;184(1):143-144

  The CRP and GDNF Genes Do Not Contribute to Apnea-Hypopnea Index or Risk of Obstructive Sleep Apnea

  Gislason T; Pack AI; Helgadottir HT; Stefansson K; Besenbacher S; Jonsdottir I
• Article: HUMAN MUTATION. 2011;32(7):723-728

  Mutation Update for the PORCN Gene

  Lombardi MP; Bulk S; Celli J; Lampe A; Gabbett MT; Ousager LB; van der Smagt JJ; Soller M; Stattin E-L; Mannens MAMM; Smigiel R; Hennekam RC
• Article: INDIAN JOURNAL OF PEDIATRICS. 2011;78(7):877-879

  COL1A1 Mutation in an Indian Child with Caffey Disease

  Ranganath P; Laine CM; Gupta D; Makitie O; Phadke SR
• Article: EMBO REPORTS. 2011;12(7):713-719

  ATM-mediated phosphorylation of polynucleotide kinase/phosphatase is required for effective DNA double-strand break repair

  Segal-Raz H; Mass G; Baranes-Bachar K; Lerenthal Y; Wang S-Y; Chung YM; Ziv-Lehrman S; Strom CE; Helleday T; Hu MC-T; Chen DJ; Shiloh Y
• Article: JOURNAL OF PEDIATRIC SURGERY. 2011;46(7):1390-1395

  Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome

  Zu S; Winberg J; Arnberg F; Palmer G; Svensson P-J; Wester T; Nordenskjold A
• Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011;155A(7):1775

  Response to "Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes" by Gripp

  Avela K; Makitie O
• Article: NEW BIOTECHNOLOGY. 2011;28(4):302-311

  Surrogate antigens as targets for proteome-wide binder selection.

  Gustavsson E; Ek S; Steen J; Kristensson M; Älgenäs C; Uhlén M; Wingren C; Ottosson J; Hober S; Borrebaeck CAK
• Article: FAMILIAL CANCER. 2011;10(2):245-254

  Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

  Roberts A; Nancarrow D; Clendenning M; Buchanan DD; Jenkins MA; Duggan D; Taverna D; McKeone D; Walters R; Walsh MD; Young BW; Jass JR; Rosty C; Gattas M; Pelzer E; Hopper JL; Goldblatt J; George J; Suthers GK; Phillips K; Parry S; Woodall S; Arnold J; Tucker K; Muir A; Drini M; Macrae F; Newcomb P; Potter JD; Pavluk E; Lindblom A; Young JP
• Article: LEUKEMIA. 2011;25(6):979-984

  Immunoglobulin sequence analysis and prognostication in CLL: guidelines from the ERIC review board for reliable interpretation of problematic cases

  Langerak AW; Davi F; Ghia P; Hadzidimitriou A; Murray F; Potter KN; Rosenquist R; Stamatopoulos K; Belessi C
• Article: CLINICAL CANCER RESEARCH. 2011;17(11):3742-3750

  The Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing

  Pharoah PDP; Palmieri RT; Ramus SJ; Gayther SA; Andrulis IL; Anton-Culver H; Antonenkova N; Antoniou AC; Goldgar D; Beattie MS; Beckmann MW; Birrer MJ; Bogdanova N; Bolton KL; Brewster W; Brooks-Wilson A; Brown R; Butzow R; Caldes T; Caligo MA; Campbell I; Chang-Claude J; Chen YA; Cook LS; Couch FJ; Cramer DW; Cunningham JM; Despierre E; Doherty JA; Doerk T; Duerst M; Eccles DM; Ekici AB; Easton D; Fasching PA; de Fazio A; Fenstermacher DA; Flanagan JM; Fridley BL; Friedman E; Gao B; Sinilnikova O; Gentry-Maharaj A; Godwin AK; Goode EL; Goodman MT; Gross J; Hansen TVO; Harnett P; Rookus M; Heikkinen T; Hein R; Hogdall C; Hogdall E; Iversen ES; Jakubowska A; Johnatty SE; Karlan BY; Kauff ND; Kaye SB; Chenevix-Trench G; Kelemen LE; Kiemeney LA; Kjaer SK; Lambrechts D; LaPolla JP; Lazaro C; Le ND; Leminen A; Leunen K; Levine DA; Lu Y; Lundvall L; Macgregor S; Marees T; Massuger LF; McLaughlin JR; Menon U; Montagna M; Moysich KB; Narod SA; Nathanson KL; Nedergaard L; Ness RB; Nevanlinna H; Nickels S; Osorio A; Paul J; Pearce CL; Phelan CM; Pike MC; Radice P; Rossing MA; Schildkraut JM; Sellers TA; Singer CF; Song H; Stram DO; Sutphen R; Lindblom A; Terry KL; Tsai Y-Y; van Altena AM; Vergote I; Vierkant RA; Vitonis AF; Walsh C; Wang-Gohrke S; Wappenschmidt B; Wu AH; Ziogas A; Berchuck A; Risch HA
• Letter: LEUKEMIA & LYMPHOMA. 2011;52(6):1146-1149

  LMO2 protein expression predicts survival in patients with rheumatoid arthritis and diffuse large B-cell lymphoma

  Baecklund E; Backlin C; Mansouri M; Klareskog L; Askling J; Iliadou AN; Enblad G; Lossos IS; Natkunam Y; Rosenquist R
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011;155A(6):1404-1408

  Extending the Phenotype of Lethal Skeletal Dysplasia Type al Gazali

  Grigelioniene G; Papadogiannakis N; Conner P; Geiberger S; Nishikawa M; Nakayama M
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011;155A(6):1322-1328

  Cerebroretinal Microangiopathy With Calcifications and Cysts: Characterization of the Skeletal Phenotype

  Toiviainen-Salo S; Linnankivi T; Saarinen A; Mayranpaa MK; Karikoski R; Makitie O
• Article: NATURE METHODS. 2011;8(7):551-558

  A roadmap to generate renewable protein binders to the human proteome

  Colwill K; Graslund S
• Meeting abstract: BONE. 2011;48:S263

  Increased body adiposity in severe juvenile idiopathic arthritis

  Markula-Patjas K; Makitie O
• Meeting abstract: BONE. 2011;48:S208

  Serum total and carboxylated osteocalcin are associated with changes in markers of glucose tolerance during OGTT in young adults

  Paldanius PM; Ivaska KK; Hovi P; Andersson S; Kajantie E; Eriksson JG; Vaananen K; Makitie O
• Article: PLOS ONE. 2011;6(5):e19138

  The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis

  Iacobaeus E; Amoudruz P; Strom M; Khademi M; Brundin L; Hillert J; Kockum I; Malmstrom V; Olsson T; Tham E; Piehl F
• Doctoral thesis: 2011

  Characterization of evolutionary conserved subdomains in the embryonic zebrafish forebrain based on gene expression patterns

  Lauter G
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;153(3):364-371

  Hypercalciuria in children with haemophilia suggests primary skeletal pathology

  Ranta S; Viljakainen H; Makipernaa A; Makitie O
• Article: HUMAN MUTATION. 2011;32(5):495-500

  Bioinformatics for Human Genetics: Promises and Challenges

  Lindblom A; Robinson PN
• Article: PLOS ONE. 2011;6(4):e19068

  Infant Milk Feeding Influences Adult Bone Health: A Prospective Study from Birth to 32 Years

  Pirila S; Taskinen M; Viljakainen H; Kajosaari M; Turanlahti M; Saarinen-Pihkala UM; Makitie O
• Article: BRITISH JOURNAL OF CANCER. 2011;104(8):1356-1361

  Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

  Osorio A; Milne RL; Alonso R; Pita G; Peterlongo P; Teule A; Nathanson KL; Domchek SM; Rebbeck T; Lasa A; Konstantopoulou I; Hogervorst FB; Verhoef S; van Dooren MF; Jager A; Ausems MGEM; Aalfs CM; van Asperen CJ; Vreeswijk M; Waisfisz Q; Van Roozendaal CE; Ligtenberg MJ; Easton DF; Peock S; Cook M; Oliver CT; Frost D; Curzon B; Evans DG; Lalloo F; Eeles R; Izatt L; Davidson R; Adlard J; Eccles D; Ong K-R; Douglas F; Downing S; Brewer C; Walker L; Nevanlinna H; Aittomaki K; Couch FJ; Fredericksen Z; Lindor NM; Godwin A; Isaacs C; Caligo MA; Loman N; Jernstrom H; Barbany-Bustinza G; Liljegren A; Ehrencrona H; Stenmark-Askmalm M; Feliubadalo L; Manoukian S; Peissel B; Zaffaroni D; Bonanni B; Fortuzzi S; Johannsson OT; Chenevix-Trench G; Chen X-C; Beesley J; Spurdle AB; Sinilnikova OM; Healey S; McGuffog L; Antoniou AC; Brunet J; Radice P; Benitez J
• Article: BREAST CANCER RESEARCH. 2011;13(2):R40

  Exploring the link between MORF4L1 and risk of breast cancer

  Martrat G; Maxwell CA; Tominaga E; Porta-de-la-Riva M; Bonifaci N; Gomez-Baldo L; Bogliolo M; Lazaro C; Blanco I; Brunet J; Aguilar H; Fernandez-Rodriguez J; Seal S; Renwick A; Rahman N; Kuehl J; Neveling K; Schindler D; Ramirez MJ; Castella M; Hernandez G; Easton DF; Peock S; Cook M; Oliver CT; Frost D; Platte R; Evans DG; Lalloo F; Eeles R; Izatt L; Chu C; Davidson R; Ong K-R; Cook J; Douglas F; Hodgson S; Brewer C; Morrison PJ; Porteous M; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Roversi G; Barile M; Viel A; Pasini B; Ottini L; Putignano AL; Savarese A; Bernard L; Radice P; Healey S; Spurdle A; Chen X; Beesley J; Rookus MA; Verhoef S; Tilanus-Linthorst MA; Vreeswijk MP; Asperen CJ; Bodmer D; Ausems MGEM; van Os TA; Blok MJ; Meijers-Heijboer HEJ; Hogervorst FBL; Goldgar DE; Buys S; John EM; Miron A; Southey M; Daly MB; Harbst K; Borg A; Rantala J; Barbany-Bustinza G; Ehrencrona H; Stenmark-Askmalm M; Kaufman B; Laitman Y; Milgrom R; Friedman E; Domchek SM; Nathanson KL; Rebbeck TR; Johannsson OT; Couch FJ; Wang X; Fredericksen Z; Cuadras D; Moreno V; Pientka FK; Depping R; Caldes T; Osorio A; Benitez J; Bueren J; Heikkinen T; Nevanlinna H; Hamann U; Torres D; Caligo MA; Godwin AK; Imyanitov EN; Janavicius R; Sinilnikova OM; Stoppa-Lyonnet D; Mazoyer S; Verny-Pierre C; Castera L; de Pauw A; Bignon Y-J; Uhrhammer N; Peyrat J-P; Vennin P; Ferrer SF; Collonge-Rame M-A; Mortemousque I; McGuffog L; Chenevix-Trench G; Pereira-Smith OM; Antoniou AC; Ceron J; Tominaga K; Surralles J; Angel Pujana M
• Article: NEURAL DEVELOPMENT. 2011;6:10

  Multicolor fluorescent in situ hybridization to define abutting and overlapping gene expression in the embryonic zebrafish brain

  Lauter G; Soll I; Hauptmann G
• Article: NUCLEIC ACIDS RESEARCH. 2011;39(8):3166-3175

  Poly (ADP-ribose) polymerase (PARP) is not involved in base excision repair but PARP inhibition traps a single-strand intermediate

  Strom CE; Johansson F; Uhlen M; Szigyarto CA-K; Erixon K; Helleday T
• Article: LEUKEMIA RESEARCH. 2011;35(4):438-443

  Quantitative evaluation of p16^INK4a promoter methylation using pyrosequencing in de novo diffuse large B-cell lymphoma

  Zainuddin N; Kanduri M; Berglund M; Lindell M; Amini R-M; Roos G; Sundstrom C; Enblad G; Rosenquist R
• Editorial: HUMAN MUTATION. 2011;32(4):491-494

  Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

  Kohonen-Corish MRJ; Macrae F; Genuardi M; Aretz S; Bapat B; Bernstein IT; Burn J; Cotton RGH; den Dunnen JT; Frebourg T; Greenblatt MS; Hofstra R; Holinski-Feder E; Lappalainen I; Lindblom A; Maglott D; Moller P; Morreau H; Moeslein G; Sijmons R; Spurdle AB; Tavtigian S; Tops CMJ; Weber TK; de Wind N; Woods MO
• Article: LEUKEMIA. 2011;25(4):622-628

  The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

  Zachariadis V; Gauffin F; Kuchinskaya E; Heyman M; Schoumans J; Blennow E; Gustafsson B; Barbany G; Golovleva I; Ehrencrona H; Cavelier L; Palmqvist L; Lonnerholm G; Nordenskjold M; Johansson B; Forestier E; Nordgren A
• Article: PLOS ONE. 2011;6(3):e17700

  Resting Energy Expenditure in Young Adults Born Preterm-The Helsinki Study of Very Low Birth Weight Adults

  Sipola-Leppanen M; Hovi P; Andersson S; Wehkalampi K; Vaarasmaki M; Strang-Karlsson S; Jarvenpaa A-L; Makitie O; Eriksson JG; Kajantie E
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011;155A(3):595-598

  Hajdu-Cheney Syndrome With Severe Dural Ectasia

  Avela K; Valanne L; Helenius I; Makitie O
• Article: NATURE GENETICS. 2011;43(4):316-320

  A rare variant in MYH6 is associated with high risk of sick sinus syndrome

  Holm H; Gudbjartsson DF; Sulem P; Masson G; Helgadottir HT; Zanon C; Magnusson OT; Helgason A; Saemundsdottir J; Gylfason A; Stefansdottir H; Gretarsdottir S; Matthiasson SE; Thorgeirsson G; Jonasdottir A; Sigurdsson A; Stefansson H; Werge T; Rafnar T; Kiemeney LA; Parvez B; Muhammad R; Roden DM; Darbar D; Thorleifsson G; Walters GB; Kong A; Thorsteinsdottir U; Arnar DO; Stefansson K
• Article: BLOOD CANCER JOURNAL. 2011;1(3):e12

  The novel NF-κB inhibitor IMD-0354 induces apoptosis in chronic lymphocytic leukemia

  Kanduri M; Tobin G; Aleskog A; Nilsson K; Rosenquist R
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(6):743-753

  Minimal residual disease assessment in childhood acute lymphoblastic leukaemia: a Swedish multi-centre study comparing real-time polymerase chain reaction and multicolour flow cytometry

  Thorn I; Forestier E; Botling J; Thuresson B; Wasslavik C; Bjorklund E; Li A; Lindstrom-Eriksson E; Malec M; Gronlund E; Torikka K; Heldrup J; Abrahamsson J; Behrendtz M; Soderhall S; Jacobsson S; Olofsson T; Porwit A; Lonnerholm G; Rosenquist R; Sundstrom C
• Article: OSTEOPOROSIS INTERNATIONAL. 2011;22(3):883-891

  Maternal vitamin D status affects bone growth in early childhood-a prospective cohort study

  Viljakainen HT; Korhonen T; Hytinantti T; Laitinen EKA; Andersson S; Makitie O; Lamberg-Allardt C
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156B(2):115-124

  Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders

  Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppstromer A; Anderlid B-M; Nordenskjold M; Schoumans J
• Article: FEBS JOURNAL. 2011;278(5):729-739

  Enhancing the protein production levels in Escherichia coli with a strong promoter.

  Tegel H; Ottosson J; Hober S
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2011;103(3):250-263

  Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

  Yang XR; Chang-Claude J; Goode EL; Couch FJ; Nevanlinna H; Milne RL; Gaudet M; Schmidt MK; Broeks A; Cox A; Fasching PA; Hein R; Spurdle AB; Blows F; Driver K; Flesch-Janys D; Heinz J; Sinn P; Vrieling A; Heikkinen T; Aittomaeki K; Heikkilae P; Blomqvist C; Lissowska J; Peplonska B; Chanock S; Figueroa J; Brinton L; Hall P; Czene K; Humphreys K; Darabi H; Liu J; Van 't Veer LJ; Van Leeuwen FE; Andrulis IL; Glendon G; Knight JA; Mulligan AM; O'Malley FP; Weerasooriya N; John EM; Beckmann MW; Hartmann A; Weihbrecht SB; Wachter DL; Jud SMS; Loehberg CR; Baglietto L; English DR; Giles GG; McLean CA; Severi G; Lambrechts D; Vandorpe T; Weltens C; Paridaens R; Smeets A; Neven P; Wildiers H; Wang X; Olson JE; Cafourek V; Fredericksen Z; Kosel M; Vachon C; Cramp HE; Connley D; Cross SS; Balasubramanian SP; Reed MWR; Doerk T; Bremer M; Meyer A; Karstens JH; Ay A; Park-Simon T-W; Hillemanns P; Arias Perez JI; Menendez Rodriguez P; Zamora P; Bentez J; Ko Y-D; Fischer H-P; Hamann U; Pesch B; Bruening T; Justenhoven C; Brauch H; Eccles DM; Tapper WJ; Gerty SM; Sawyer EJ; Tomlinson IP; Jones A; Kerin M; Miller N; McInerney N; Anton-Culver H; Ziogas A; Shen C-Y; Hsiung C-N; Wu P-E; Yang S-L; Yu J-C; Chen S-T; Hsu G-C; Haiman CA; Henderson BE; Le Marchand L; Kolonel LN; Lindblom A; Margolin S; Jakubowska A; Lubinski J; Huzarski T; Byrski T; Gorski B; Gronwald J; Hooning MJ; Hollestelle A; van den Ouweland AMW; Jager A; Kriege M; Tilanus-Linthorst MMA; Collee M; Wang-Gohrke S; Pylkaes K; Jukkola-Vuorinen A; Mononen K; Grip M; Hirvikoski P; Winqvist R; Mannermaa A; Kosma V-M; Kauppinen J; Kataja V; Auvinen P; Soini Y; Sironen R; Bojesen SE; Orsted DD; Kaur-Knudsen D; Flyger H; Nordestgaard BG; Holland H; Chenevix-Trench G; Manoukian S; Barile M; Radice P; Hankinson SE; Hunter DJ; Tamimi R; Sangrajrang S; Brennan P; Mckay J; Odefrey F; Gaborieau V; Devilee P; Huijts PEA; Tollenaar RAEM; Seynaeve C; Dite GS; Apicella C; Hopper JL; Hammet F; Tsimiklis H; Smith LD; Southey MC; Humphreys MK; Easton D; Pharoah P; Sherman ME; Garcia-Closas M
• Article: GENES CHROMOSOMES & CANCER. 2011;50(2):113-121

  High-Resolution Genomic Screening in Mantle Cell Lymphoma-Specific Changes Correlate with Genomic Complexity, the Proliferation Signature and Survival

  Halldorsdottir AM; Sander B; Goransson H; Isaksson A; Kimby E; Mansouri M; Rosenquist R; Ehrencrona H
• Article: ANNALS OF THE RHEUMATIC DISEASES. 2011;70(2):349-355

  Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

  Evangelou E; Valdes AM; Kerkhof HJM; Styrkarsdottir U; Zhu Y; Meulenbelt I; Lories RJ; Karassa FB; Tylzanowski P; Bos SD; Akune T; Arden NK; Carr A; Chapman K; Cupples LA; Dai J; Deloukas P; Doherty M; Doherty S; Engstrom G; Gonzalez A; Halldorsson BV; Hammond CL; Hart DJ; Helgadottir H; Hofman A; Ikegawa S; Ingvarsson T; Jiang Q; Jonsson H; Kaprio J; Kawaguchi H; Kisand K; Kloppenburg M; Kujala UM; Lohmander LS; Loughlin J; Luyten FP; Mabuchi A; McCaskie A; Nakajima M; Nilsson PM; Nishida N; Ollier WER; Panoutsopoulou K; van de Putte T; Ralston SH; Rivadeneira F; Saarela J; Schulte-Merker S; Shi D; Slagboom PE; Sudo A; Tamm A; Tamm A; Thorleifsson G; Thorsteinsdottir U; Tsezou A; Wallis GA; Wilkinson JM; Yoshimura N; Zeggini E; Zhai G; Zhang F; Jonsdottir I; Uitterlinden AG; Felson DT; van Meurs JB; Stefansson K; Ioannidis JPA; Spector TD
• Article: LEUKEMIA RESEARCH. 2011;35(2):272-274

  TP53 Mutations are infrequent in newly diagnosed chronic lymphocytic leukemia

  Zainuddin N; Murray F; Kanduri M; Gunnarsson R; Smedby KE; Enblad G; Jurlander J; Juliusson G; Rosenquist R
• Article: BONE. 2011;48(2):212-217

  Dual effect of adipose tissue on bone health during growth

  Viljakainen HT; Pekkinen M; Saarnio E; Karp H; Lamberg-Allardt C; Makitie O
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2011;103(2):105-116

  Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

  Ramus SJ; Kartsonaki C; Gayther SA; Pharoah PDP; Sinilnikova OM; Beesley J; Chen X; McGuffog L; Healey S; Couch FJ; Wang X; Fredericksen Z; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Roversi G; Barile M; Viel A; Allavena A; Ottini L; Papi L; Gismondi V; Capra F; Radice P; Greene MH; Mai PL; Andrulis IL; Glendon G; Ozcelik H; Thomassen M; Gerdes A-M; Kruse TA; Cruger D; Jensen UB; Caligo MA; Olsson H; Kristoffersson U; Lindblom A; Arver B; Karlsson P; Askmalm MS; Borg A; Neuhausen SL; Ding YC; Nathanson KL; Domchek SM; Jakubowska A; Lubinski J; Huzarski T; Byrski T; Gronwald J; Gorski B; Cybulski C; Debniak T; Osorio A; Duran M; Tejada M-I; Benitez J; Hamann U; Rookus MA; Verhoef S; Tilanus-Linthorst MA; Vreeswijk MP; Bodmer D; Ausems MGEM; van Os TA; Asperen CJ; Blok MJ; Meijers-Heijboer HEJ; Peock S; Cook M; Oliver C; Frost D; Dunning AM; Evans DG; Eeles R; Pichert G; Cole T; Hodgson S; Brewer C; Morrison PJ; Porteous M; Kennedy MJ; Rogers MT; Side LE; Donaldson A; Gregory H; Godwin A; Stoppa-Lyonnet D; Moncoutier V; Castera L; Mazoyer S; Barjhoux L; Bonadona V; Leroux D; Faivre L; Lidereau R; Nogues C; Bignon Y-J; Prieur F; Collonge-Rame M-A; Venat-Bouvet L; Fert-Ferrer S; Miron A; Buys SS; Hopper JL; Daly MB; John EM; Terry MB; Goldgar D; Hansen TVO; Jonson L; Ejlertsen B; Agnarsson BA; Offit K; Kirchhoff T; Vijai J; Dutra-Clarke AVC; Przybylo JA; Montagna M; Casella C; Imyanitov EN; Janavicius R; Blanco I; Lazaro C; Moysich KB; Karlan BY; Gross J; Beattie MS; Schmutzler R; Wappenschmidt B; Meindl A; Ruehl I; Fiebig B; Sutter C; Arnold N; Deissler H; Varon-Mateeva R; Kast K; Niederacher D; Gadzicki D; Caldes T; de la Hoya M; Nevanlinna H; Aittomaeki K; Simard J; Soucy P; Spurdle AB; Holland H; Chenevix-Trench G; Easton DF; Antoniou AC
• Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2011;127(9):921-929

  [New diagnostic criteria for pediatric osteoporosis--spinal compression fractures are an underdiagnosed problem].

  Valta H; Mäkitie O
• Article: BREAST CANCER RESEARCH. 2011;13(6):R110

  Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

  Mulligan AM; Couch FJ; Barrowdale D; Domchek SM; Eccles D; Nevanlinna H; Ramus SJ; Robson M; Sherman M; Spurdle AB; Wappenschmidt B; Lee A; McGuffog L; Healey S; Sinilnikova OM; Janavicius R; Hansen TVO; Nielsen FC; Ejlertsen B; Osorio A; Munoz-Repeto I; Duran M; Godino J; Pertesi M; Benitez J; Peterlongo P; Manoukian S; Peissel B; Zaffaroni D; Cattaneo E; Bonanni B; Viel A; Pasini B; Papi L; Ottini L; Savarese A; Bernard L; Radice P; Hamann U; Verheus M; Meijers-Heijboer HEJ; Wijnen J; Garcia EBG; Nelen MR; Kets CM; Seynaeve C; Tilanus-Linthorst MMA; van der Luijt RB; van Os T; Rookus M; Frost D; Jones JL; Evans DG; Lalloo F; Eeles R; Izatt L; Adlard J; Davidson R; Cook J; Donaldson A; Dorkins H; Gregory H; Eason J; Houghton C; Barwell J; Side LE; McCann E; Murray A; Peock S; Godwin AK; Schmutzler RK; Rhiem K; Engel C; Meindl A; Ruehl I; Arnold N; Niederacher D; Sutter C; Deissler H; Gadzicki D; Kast K; Preisler-Adams S; Varon-Mateeva R; Schoenbuchner I; Fiebig B; Heinritz W; Schaefer D; Gevensleben H; Caux-Moncoutier V; Fassy-Colcombet M; Cornelis F; Mazoyer S; Leone M; Boutry-Kryza N; Hardouin A; Berthet P; Muller D; Fricker J-P; Mortemousque I; Pujol P; Coupier I; Lebrun M; Kientz C; Longy M; Sevenet N; Stoppa-Lyonnet D; Isaacs C; Caldes T; de la Hoya M; Heikkinen T; Aittomaki K; Blanco I; Lazaro C; Barkardottir RB; Soucy P; Dumont M; Simard J; Montagna M; Tognazzo S; D'Andrea E; Fox S; Yan M; Rebbeck T; Olopade OI; Weitzel JN; Lynch HT; Ganz PA; Tomlinson GE; Wang X; Fredericksen Z; Pankratz VS; Lindor NM; Szabo C; Offit K; Sakr R; Gaudet M; Bhatia J; Kauff N; Singer CF; Tea M-K; Gschwantler-Kaulich D; Fink-Retter A; Mai PL; Greene MH; Imyanitov E; O'Malley FP; Ozcelik H; Glendon G; Toland AE; Gerdes A-M; Thomassen M; Kruse TA; Jensen UB; Skytte A-B; Caligo MA; Soller M; Henriksson K; Wachenfeldt VA; Arver B; Stenmark-Askmalm M; Karlsson P; Ding YC; Neuhausen SL; Beattie M; Pharoah PDP; Moysich KB; Nathanson KL; Karlan BY; Gross J; John EM; Daly MB; Buys SM; Southey MC; Hopper JL; Terry MB; Chung W; Miron AF; Goldgar D; Chenevix-Trench G; Easton DF; Andrulis IL; Antoniou AC
• Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2011;127(3):273-279

  [Cartilage-hair hypoplasia--much more than growth problem].

  Taskinen M; Mäkitie O
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2011;75(5):346-353

  Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta

  Vuorimies I; Toiviainen-Salo S; Hero M; Makitie O
• Review: ENDOCRINE DEVELOPMENT. 2011;21:78-84

  Molecular defects causing skeletal dysplasias.

  Mäkitie O
• Editorial: HORMONE RESEARCH IN PAEDIATRICS. 2011;76(4):292

  Bisphosphonates in Pediatrics - More Questions than Answers

  Makitie O
• Article: BRITISH JOURNAL OF CANCER. 2010;103(12):1875-1884

  A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

  Theodoratou E; Campbell H; Tenesa A; Houlston R; Webb E; Lubbe S; Broderick P; Gallinger S; Croitoru EM; Jenkins MA; Win AK; Cleary SP; Koessler T; Pharoah PD; Kuery S; Bezieau S; Buecher B; Ellis NA; Peterlongo P; Offit K; Aaltonen LA; Enholm S; Lindblom A; Zhou X-L; Tomlinson IP; Moreno V; Blanco I; Capella G; Barnetson R; Porteous ME; Dunlop MG; Farrington SM
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(12):2752-2759

  Decreasing Incidence and Changing Pattern of Childhood Fractures: A Population-Based Study

  Mayranpaa MK; Makitie O; Kallio PE
• Editorial: HUMAN MUTATION. 2010;31(12):1374-1381

  How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

  Kohonen-Corish MRJ; Al-Aama JY; Auerbach AD; Axton M; Barash CI; Bernstein I; Beroud C; Burn J; Cunningham F; Cutting GR; den Dunnen JT; Greenblatt MS; Kaput J; Katz M; Lindblom A; Macrae F; Maglott D; Moeslein G; Povey S; Ramesar R; Richards S; Seminara D; Sobrido M-J; Tavtigian S; Taylor G; Vihinen M; Winship I; Cotton RGH
• Article: FAMILIAL CANCER. 2010;9(4):669-679

  Disclosing cancer genetic information within families: perspectives of counselees and their at-risk relatives

  Roshanai AH; Lampic C; Rosenquist R; Nordin K
• Article: AMERICAN JOURNAL OF PATHOLOGY. 2010;177(6):2688-2693

  Colorectal Cancer Susceptibility Loci in a Population-Based Study Associations with Morphological Parameters

  Ghazi S; von Holst S; Picelli S; Lindforss U; Tenesa A; Famngton SM; Campbell H; Dunlop MG; Papadogiannakis N; Lindblom A
• Article: CANCER RESEARCH. 2010;70(23):9742-9754

  Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

  Antoniou AC; Beesley J; McGuffog L; Sinilnikova OM; Healey S; Neuhausen SL; Ding YC; Rebbeck TR; Weitzel JN; Lynch HT; Isaacs C; Ganz PA; Tomlinson G; Olopade OI; Couch FJ; Wang X; Lindor NM; Pankratz VS; Radice P; Manoukian S; Peissel B; Zaffaroni D; Barile M; Viel A; Allavena A; Dall'Olio V; Peterlongo P; Szabo CI; Zikan M; Claes K; Poppe B; Foretova L; Mai PL; Greene MH; Rennert G; Lejbkowicz F; Glendon G; Ozcelik H; Andrulis IL; Thomassen M; Gerdes A-M; Sunde L; Cruger D; Jensen UB; Caligo M; Friedman E; Kaufman B; Laitman Y; Milgrom R; Dubrovsky M; Cohen S; Borg A; Jernstroem H; Lindblom A; Rantala J; Stenmark-Askmalm M; Melin B; Nathanson K; Domchek S; Jakubowska A; Lubinski J; Huzarski T; Osorio A; Lasa A; Duran M; Tejada M-I; Godino J; Benitez J; Hamann U; Kriege M; Hoogerbrugge N; van der Luijt RB; van Asperen CJ; Devilee P; Meijers-Heijboer EJ; Blok MJ; Aalfs CM; Hogervorst F; Rookus M; Cook M; Oliver C; Frost D; Conroy D; Evans DG; Lalloo F; Pichert G; Davidson R; Cole T; Cook J; Paterson J; Hodgson S; Morrison PJ; Porteous ME; Walker L; Kennedy MJ; Dorkins H; Peock S; Godwin AK; Stoppa-Lyonnet D; de Pauw A; Mazoyer S; Bonadona V; Lasset C; Dreyfus H; Leroux D; Hardouin A; Berthet P; Faivre L; Loustalot C; Noguchi T; Sobol H; Rouleau E; Nogues C; Frenay M; Venat-Bouvet L; Hopper JL; Daly MB; Terry MB; John EM; Buys SS; Yassin Y; Miron A; Goldgar D; Singer CF; Dressler AC; Gschwantler-Kaulich D; Pfeiler G; Hansen TVO; Jnson L; Agnarsson BA; Kirchhoff T; Offit K; Devlin V; Dutra-Clarke A; Piedmonte M; Rodriguez GC; Wakeley K; Boggess JF; Basil J; Schwartz PE; Blank SV; Toland AE; Montagna M; Casella C; Imyanitov E; Tihomirova L; Blanco I; Lazaro C; Ramus SJ; Sucheston L; Karlan BY; Gross J; Schmutzler R; Wappenschmidt B; Engel C; Meindl A; Lochmann M; Arnold N; Heidemann S; Varon-Mateeva R; Niederacher D; Sutter C; Deissler H; Gadzicki D; Preisler-Adams S; Kast K; Schoenbuchner I; Caldes T; de la Hoya M; Aittomaeki K; Nevanlinna H; Simard J; Spurdle AB; Holland H; Chen X; Platte R; Chenevix-Trench G; Easton DF
• Article: FAMILIAL CANCER. 2010;9(4):705-711

  Report of the Combined Meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009

  Kohonen-Corish M; Weber TK; Lindblom A; Macrae F
• Review: SEMINARS IN CANCER BIOLOGY. 2010;20(6):400-409

  Antigens in chronic lymphocytic leukemia-Implications for cell origin and leukemogenesis

  Rosen A; Murray F; Evaldsson C; Rosenquist R
• Article: HAEMATOLOGICA. 2010;95(12):2072-2079

  Distinct gene expression profiles in subsets of chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors

  Marincevic M; Mansouri M; Kanduri M; Isaksson A; Goransson H; Smedby KE; Jurlander J; Juliusson G; Davi F; Stamatopoulos K; Rosenquist R
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;85(5):399-404

  Molecular monitoring and mutation analysis of patients with advanced phase CML and Ph plus ALL receiving dasatinib

  Olsson-Stromberg U; Hermansson M; Lundan T; Ohm A-C; Engdahl I; Hoglund M; Simonsson B; Porkka K; Barbany G
• Article: JOURNAL OF ORTHOPAEDIC RESEARCH. 2010;28(11):1497-1501

  Early-Onset Metaphyseal Chondrodysplasia Type Schmid Associated with a COL10A1 Frame-Shift Mutation and Impaired Trimerization of Wild-Type α1(X) Protein Chains

  Makitie O; Susic M; Cole WG
• Article: JOURNAL OF MEDICAL GENETICS. 2010;47(10):704-709

  Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

  Dai J; Kim O-H; Cho T-J; Schmidt-Rimpler M; Tonoki H; Takikawa K; Haga N; Miyoshi K; Kitoh H; Yoo W-J; Choi I-H; Song H-R; Jin D-K; Kim H-T; Kamasaki H; Bianchi P; Grigelioniene G; Nampoothiri S; Minagawa M; Miyagawa S-I; Fukao T; Marcelis C; Jansweijer MCE; Hennekam RCM; Bedeschi F; Mustonen A; Jiang Q; Ohashi H; Furuichi T; Unger S; Zabel B; Lausch E; Superti-Furga A; Nishimura G; Ikegawa S
• Article: HUMAN MUTATION. 2010;31(10):1142-1154

  Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations

  Johnston JJ; Sapp JC; Turner JT; Amor D; Aftimos S; Aleck KA; Bocian M; Bodurtha JN; Cox GF; Curry CJ; Day R; Donnai D; Field M; Fujiwara I; Gabbett M; Gal M; Graham JMJ; Hedera P; Hennekam RCM; Hersh JH; Hopkin RJ; Kayserili H; Kidd AMJ; Kimonis V; Lin AE; Lynch SA; Maisenbacher M; Mansour S; McGaughran J; Mehta L; Murphy H; Raygada M; Robin NH; Rope AF; Rosenbaum KN; Schaefer GB; Shealy A; Smith W; Soller M; Sommer A; Stalker HJ; Steiner B; Stephan MJ; Tilstra D; Tomkins S; Trapane P; Tsai AC-H; Van Allen MI; Vasudevan PC; Zabel B; Zunich J; Black GCM; Biesecker LG
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(10):2165-2174

  Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation

  Makitie O; Pereira RC; Kaitila I; Turan S; Bastepe M; Laine T; Kroger H; Cole WG; Jueppner H
• Article: NATURE GENETICS. 2010;42(10):885-892

  A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

  Antoniou AC; Wang X; Fredericksen ZS; McGuffog L; Tarrell R; Sinilnikova OM; Healey S; Morrison J; Kartsonaki C; Lesnick T; Ghoussaini M; Barrowdale D; Peock S; Cook M; Oliver C; Frost D; Eccles D; Evans DG; Eeles R; Izatt L; Chu C; Douglas F; Paterson J; Stoppa-Lyonnet D; Houdayer C; Mazoyer S; Giraud S; Lasset C; Remenieras A; Caron O; Hardouin A; Berthet P; Hogervorst FBL; Rookus MA; Jager A; van den Ouweland A; Hoogerbrugge N; van der Luijt RB; Meijers-Heijboer H; Garcia EBG; Devilee P; Vreeswijk MPG; Lubinski J; Jakubowska A; Gronwald J; Huzarski T; Byrski T; Gorski B; Cybulski C; Spurdle AB; Holland H; Goldgar DE; John EM; Hopper JL; Southey M; Buys SS; Daly MB; Terry M-B; Schmutzler RK; Wappenschmidt B; Engel C; Meindl A; Preisler-Adams S; Arnold N; Niederacher D; Sutter C; Domchek SM; Nathanson KL; Rebbeck T; Blum JL; Piedmonte M; Rodriguez GC; Wakeley K; Boggess JF; Basil J; Blank SV; Friedman E; Kaufman B; Laitman Y; Milgrom R; Andrulis IL; Glendon G; Ozcelik H; Kirchhoff T; Vijai J; Gaudet MM; Altshuler D; Guiducci C; Loman N; Harbst K; Rantala J; Ehrencrona H; Gerdes A-M; Thomassen M; Sunde L; Peterlongo P; Manoukian S; Bonanni B; Viel A; Radice P; Caldes T; de la Hoya M; Singer CF; Fink-Retter A; Greene MH; Mai PL; Loud JT; Guidugli L; Lindor NM; Hansen TVO; Nielsen FC; Blanco I; Lazaro C; Garber J; Ramus SJ; Gayther SA; Phelan C; Narod S; Szabo CI; Benitez J; Osorio A; Nevanlinna H; Heikkinen T; Caligo MA; Beattie MS; Hamann U; Godwin AK; Montagna M; Casella C; Neuhausen SL; Karlan BY; Tung N; Toland AE; Weitzel J; Olopade O; Simard J; Soucy P; Rubinstein WS; Arason A; Rennert G; Martin NG; Montgomery GW; Chang-Claude J; Flesch-Janys D; Brauch H; Severi G; Baglietto L; Cox A; Cross SS; Miron P; Gerty SM; Tapper W; Yannoukakos D; Fountzilas G; Fasching PA; Beckmann MW; Silva IDS; Peto J; Lambrechts D; Paridaens R; Ruediger T; Foersti A; Winqvist R; Pylkaes K; Diasio RB; Lee AM; Eckel-Passow J; Vachon C; Blows F; Driver K; Dunning A; Pharoah PPD; Offit K; Pankratz VS; Hakonarson H; Chenevix-Trench G; Easton DF; Couch FJ
• Conference publication: JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY. 2010;25:A76

  Linkage to chromosome 2q32.2-q35 in familial serrated neoplasia

  Roberts A; Nancarrow D; Clendenning M; Buchanan DD; Jenkins MA; Duggan D; Walsh MD; Parry S; Lindblom A; Young JP
• Article: ANTI-CANCER DRUGS. 2010;21(8):759-765

  Chimeric tyrosine kinase-HDAC inhibitors as antiproliferative agents

  Uecker A; Sicker M; Beckers T; Mahboobi S; Hagerstrand D; Ostman A; Bohmer F-D
• Letter: LEUKEMIA & LYMPHOMA. 2010;51(9):1748-1750

  Coexistence of different types of biallelic immunoglobulin heavy variable gene replacement events in a case of pediatric B precursor acute lymphoblastic leukemia.

  Hadzidimitriou A; Darzentas N; Karakoli A; Koliouskas D; Tsaftaris A; Anagnostopoulos A; Stamatopoulos K
• Article: HAEMATOLOGICA. 2010;95(9):1519-1525

  High-density screening reveals a different spectrum of genomic aberrations in chronic lymphocytic leukemia patients with 'stereotyped' IGHV3-21 and IGHV4-34 B-cell receptors

  Marincevic M; Cahill N; Gunnarsson R; Isaksson A; Mansouri M; Goransson H; Rasmussen M; Jansson M; Ryan F; Karlsson K; Adami H-O; Davi F; Jurlander J; Juliusson G; Stamatopoulos K; Rosenquist R
• Article: JOURNAL OF PEDIATRICS. 2010;157(3):421-427.e1

  Reduced Body Size and Shape-Related Symptoms in Young Adults Born Preterm with Very Low Birth Weight: Helsinki Study of Very Low Birth Weight Adults

  Wehkalampi K; Hovi P; Strang-Karlsson S; Raikkonen K; Pesonen A-K; Heinonen K; Makitie O; Jarvenpaa A-L; Eriksson JG; Andersson S; Kajantie E
• Article: NEURO-ONCOLOGY. 2010;12(9):967-975

  PI3K/PTEN/Akt pathway status affects the sensitivity of high-grade glioma cell cultures to the insulin-like growth factor-1 receptor inhibitor NVP-AEW541

  Hagerstrand D; Lindh MB; Pena C; Garcia-Echeverria C; Nister M; Hofmann F; Ostman A
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2010;19(9):2143-2151

  Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

  Fletcher O; Johnson N; Silva IDS; Orr N; Ashworth A; Nevanlinna H; Heikkinen T; Aittomaki K; Blomqvist C; Burwinkel B; Bartram CR; Meindl A; Schmutzler RK; Cox A; Brock I; Elliott G; Reed MWR; Southey MC; Smith L; Spurdle AB; Hopper JL; Couch FJ; Olson JE; Wang X; Fredericksen Z; Schuermann P; Waltes R; Bremer M; Doerk T; Devilee P; van Asperen CJ; Tollenaar RAEM; Seynaeve C; Hall P; Czene K; Humphreys K; Liu J; Ahmed S; Dunning AM; Maranian M; Pharoah PDP; Chenevix-Trench G; Beesley J; Bogdanova NV; Antonenkova NN; Zalutsky IV; Anton-Culver H; Ziogas A; Brauch H; Ko Y-D; Hamann U; Fasching PA; Strick R; Ekici AB; Beckmann MW; Giles GG; Severi G; Baglietto L; English DR; Milne RL; Benitez J; Ignacio Arias J; Pita G; Nordestgaard BG; Bojesen SE; Flyger H; Kang D; Yoo K-Y; Noh DY; Mannermaa A; Kataja V; Kosma V-M; Garcia-Closas M; Chanock S; Lissowska J; Brinton LA; Chang-Claude J; Wang-Gohrke S; Broeks A; Schmidt MK; van Leeuwen FE; Van't Veer LJ; Margolin S; Lindblom A; Humphreys MK; Morrison J; Platte R; Easton DF; Peto J
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(9):2277-2286

  Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization

  Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2010;18(9):972-977

  Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe.

  Skirton H; Lewis C; Kent A; Coviello DA; Members of Eurogentest Unit 6 and ESHG Education C
• Article: BRITISH JOURNAL OF CANCER. 2010;103(4):575-580

  Association studies on 11 published colorectal cancer risk loci

  von Holst S; Picelli S; Edler D; Lenander C; Dalen J; Hjern F; Lundqvist N; Lindforss U; Pahlman L; Smedh K; Tornqvist A; Holm J; Janson M; Andersson M; Ekelund S; Olsson L; Ghazi S; Papadogiannakis N; Tenesa A; Farrington SM; Campbell H; Dunlop MG; Lindblom A
• Letter: PEDIATRIC BLOOD & CANCER. 2010;55(2):394-395

  Molecular diagnosis of childhood acute leukemia: Serbian experience.

  Krstic AD; Micic D; Lakic N; Guc-Scekic M; Janic D
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2010;18(8):902-908

  A sequence variant on 17q21 is associated with age at onset and severity of asthma

  Halapi E; Gudbjartsson DF; Jonsdottir GM; Bjornsdottir US; Thorleifsson G; Helgadottir H; Williams C; Koppelman GH; Heinzmann A; Boezen HM; Jonasdottir A; Blondal T; Gudjonsson SA; Jonasdottir A; Thorlacius T; Henry AP; Altmueller J; Krueger M; Shin HD; Uh S-T; Cheong HS; Jonsdottir B; Ludviksson BR; Ludviksdottir D; Gislason D; Park C-S; Deichmann K; Thompson PJ; Wjst M; Hall IP; Postma DS; Gislason T; Kong A; Jonsdottir I; Thorsteinsdottir U; Stefansson K
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2010;150(4):473-479

  Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk

  Crowther-Swanepoel D; Mansouri M; Enjuanes A; Vega A; Smedby KE; Ruiz-Ponte C; Jurlander J; Juliusson G; Montserrat E; Catovsky D; Campo E; Carracedo A; Rosenquist R; Houlston RS
• Article: PLOS GENETICS. 2010;6(7):e1001029

  Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus

  Stacey SN; Sulem P; Zanon C; Gudjonsson SA; Thorleifsson G; Helgason A; Jonasdottir A; Besenbacher S; Kostic JP; Fackenthal JD; Huo D; Adebamowo C; Ogundiran T; Olson JE; Fredericksen ZS; Wang X; Look MP; Sieuwerts AM; Martens JWM; Pajares I; Garcia-Prats MD; Ramon-Cajal JM; de Juan A; Panadero A; Ortega E; Aben KKH; Vermeulen SH; Asadzadeh F; van Engelenburg KCA; Margolin S; Shen C-Y; Wu P-E; Forsti A; Lenner P; Henriksson R; Johansson R; Enquist K; Hallmans G; Jonsson T; Sigurdsson H; Alexiusdottir K; Gudmundsson J; Sigurdsson A; Frigge ML; Gudmundsson L; Kristjansson K; Halldorsson BV; Styrkarsdottir U; Gulcher JR; Hemminki K; Lindblom A; Kiemeney LA; Mayordomo JI; Foekens JA; Couch FJ; Olopade OI; Gudbjartsson DF; Thorsteinsdottir U; Rafnar T; Johannsson OT; Stefansson K
• Article: BMC CANCER. 2010;10:385

  HIF1α isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation

  Monsef N; Soller M; Panagopoulos I; Abrahamsson PA
• Article: DNA REPAIR. 2010;9(7):835-841

  XRCC1 phosphorylation by CK2 is required for its stability and efficient DNA repair

  Parsons JL; Dianova II; Finch D; Tait PS; Strom CE; Helleday T; Dianov GL
• Article: LEUKEMIA. 2010;24(7):1317-1324

  Intraclonal diversification of immunoglobulin light chains in a subset of chronic lymphocytic leukemia alludes to antigen-driven clonal evolution

  Kostareli E; Sutton L-A; Hadzidimitriou A; Darzentas N; Kouvatsi A; Tsaftaris A; Anagnostopoulos A; Rosenquist R; Stamatopoulos K
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(7):1536-1543

  Vertebral Morphology in Aromatase Inhibitor-Treated Males with Idiopathic Short Stature or Constitutional Delay of Puberty

  Hero M; Toiviainen-Salo S; Wickman S; Makitie O; Dunkel L
• Article: HUMAN MOLECULAR GENETICS. 2010;19(12):2507-2515

  Fine scale mapping of the breast cancer 16q12 locus

  Udler MS; Ahmed S; Healey CS; Meyer K; Struewing J; Maranian M; Kwon EM; Zhang J; Tyrer J; Karlins E; Platte R; Kalmyrzaev B; Dicks E; Field H; Maia A-T; Prathalingam R; Teschendorff A; McArthur S; Doody DR; Luben R; Caldas C; Bernstein L; Kolonel LK; Henderson BE; Wu AH; Le Marchand L; Ursin G; Press MF; Lindblom A; Margolin S; Shen C-Y; Yang S-L; Hsiung C-N; Kang D; Yoo K-Y; Noh D-Y; Ahn S-H; Malone KE; Haiman CA; Pharoah PD; Ponder BAJ; Ostrander EA; Easton DF; Dunning AM
• Article: CLINICAL GENETICS. 2010;77(6):552-562

  Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH

  Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
• Article: FAMILIAL CANCER. 2010;9(2):109-115

  Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

  Vasen HFA; Moeslein G; Alonso A; Aretz S; Bernstein I; Bertario L; Blanco I; Bulow S; Burn J; Capella G; Colas C; Engel C; Frayling I; Rahner N; Hes FJ; Hodgson S; Mecklin J-P; Moller P; Myrhoj T; Nagengast FM; Parc Y; de Leon MP; Renkonen-Sinisalo L; Sampson JR; Stormorken A; Tejpar S; Thomas HJW; Wijnen J; Lubinski J; Jarvinen H; Claes E; Heinimann K; Karagiannis JA; Lindblom A; Dove-Edwin I; Mueller H
• Article: FAMILIAL CANCER. 2010;9(2):125-129

  Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer

  Ekstrand AI; Jonsson M; Lindblom A; Borg A; Nilbert M
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2010;85(6):418-425

  Identification of uniquely expressed transcription factors in highly purified B-cell lymphoma samples

  Andreasson U; Eden P; Peterson C; Hogerkorp C-M; Jerkeman M; Andersen N; Berglund M; Sundstrom C; Rosenquist R; Borrebaeck CAK; Ek S
• Journal article: ONCOTARGET. 2010;5(0):2

  TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2 , FBXO28 , and FAM53A that associate with survival and treatment outcome in breast cancer

  Fagerholm R; Khan S; Schmidt MK; Closas MG; Heikkilä P; Saarela J; Beesley J; Jamshidi M; Aittomäki K; Liu J; Ali HR; Andrulis IL; Beckmann MW; Behrens S; Blows FM; Brenner H; Chang-Claude J; Couch FJ; Czene K; Fasching PA; Figueroa J; Floris G; Glendon G; Guo Q; Hall P; Hallberg E; Hamann U; Holleczek B; Hooning MJ; Hopper JL; Jager A; Kabisch M; Investigators KA; Keeman R; Kosma V-M; Lambrechts D; Lindblom A; Mannermaa A; Margolin S; Provenzano E; Shah M; Southey MC; Dennis J; Lush M; Michailidou K; Wang Q; Bolla MK; Dunning AM; Easton DF; Pharoah PDP; Chenevix-Trench G; Blomqvist C; Nevanlinna H
• Review: JOURNAL OF CYSTIC FIBROSIS. 2010;9(3):165-178

  Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

  Castellani C; Macek MJ; Cassiman J-J; Duff A; Massie J; ten Kate LP; Barton D; Cutting G; Dallapiccola B; Dequeker E; Girodon E; Grody W; Highsmith EW; Kaariainen H; Kruip S; Morris M; Pignatti PF; Pypops U; Schwarz M; Soller M; Stuhrman M; Cuppens H
• Article: NATURE GENETICS. 2010;42(5):415-419

  A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

  Kiemeney LA; Sulem P; Besenbacher S; Vermeulen SH; Sigurdsson A; Thorleifsson G; Gudbjartsson DF; Stacey SN; Gudmundsson J; Zanon C; Kostic J; Masson G; Bjarnason H; Palsson ST; Skarphedinsson OB; Gudjonsson SA; Witjes JA; Grotenhuis AJ; Verhaegh GW; Bishop DT; Sak SC; Choudhury A; Elliott F; Barrett JH; Hurst CD; de Verdier PJ; Ryk C; Rudnai P; Gurzau E; Koppova K; Vineis P; Polidoro S; Guarrera S; Sacerdote C; Campagna M; Placidi D; Arici C; Zeegers MP; Kellen E; Saez Gutierrez B; Sanz-Velez JI; Sanchez-Zalabardo M; Valdivia G; Garcia-Prats MD; Hengstler JG; Blaszkewicz M; Dietrich H; Ophoff RA; van den Berg LH; Alexiusdottir K; Kristjansson K; Geirsson G; Nikulasson S; Petursdottir V; Kong A; Thorgeirsson T; Mungan NA; Lindblom A; van Es MA; Porru S; Buntinx F; Golka K; Mayordomo JI; Kumar R; Matullo G; Steineck G; Kiltie AE; Aben KKH; Jonsson E; Thorsteinsdottir U; Knowles MA; Rafnar T; Stefansson K
• Article: LEUKEMIA. 2010;24(5):924-931

  Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations

  Davidsson J; Paulsson K; Lindgren D; Lilljebjorn H; Chaplin T; Forestier E; Andersen MK; Nordgren A; Rosenquist R; Fioretos T; Young BD; Johansson B
• Article: EUROPEAN JOURNAL OF CANCER. 2010;46(6):1041-1048

  Common variants in human CRC genes as low-risk alleles

  Picelli S; Zajac P; Zhou X-L; Edler D; Lenander C; Dalen J; Hjern F; Lundqvist N; Lindforss U; Pahlman L; Smedh K; Tornqvist A; Holm J; Janson M; Andersson M; Ekelund S; Olsson L; Lundeberg J; Lindblom A
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2010;95(4):1749-1757

  Maternal Vitamin D Status Determines Bone Variables in the Newborn

  Viljakainen HT; Saarnio E; Hytinantti T; Miettinen M; Surcel H; Makitie O; Andersson S; Laitinen K; Lamberg-Allardt C
• Article: BONE. 2010;46(4):940-945

  Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children

  Saarinen A; Mayranpaa MK; Lehesjoki A-E; Makitie O
• Article: CLINICAL ENDOCRINOLOGY. 2010;72(4):481-488

  Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

  Saarinen A; Saukkonen T; Kivela T; Lahtinen U; Laine C; Somer M; Toiviainen-Salo S; Cole WG; Lehesjoki A-E; Makitie O
• Article: ANNALS OF THE RHEUMATIC DISEASES. 2010;69(4):654-659

  Rheumatoid arthritis, treatment with corticosteroids and risk of malignant lymphomas: results from a case-control study

  Hellgren K; Iliadou A; Rosenquist R; Feltelius N; Backlin C; Enblad G; Askling J; Baecklund E
• Corrigendum: CANCER GENETICS. 2010;198(1):76

  A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia (vol 195, pg 125, 2009)

  Krstic AD; Impera L; Guc-Scekic M; Lakic N; Djokic D; Slavkovic B; Storlazzi CT
• Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2010;52(3):276-282

  Low bone mass in patients with motor disability: prevalence and risk factors in 59 Finnish children

  Kilpinen-Loisa P; Paasio T; Soiva M; Ritanen UM; Lautala P; Palmu P; Pihko H; Makitie O
• Article: LEUKEMIA RESEARCH. 2010;34(3):301-306

  Lipoprotein lipase is differentially expressed in prognostic subsets of chronic lymphocytic leukemia but displays invariably low catalytical activity

  Mansouri M; Sevov M; Fahlgren E; Tobin G; Jondal M; Osorio L; Roos G; Olivecrona G; Rosenquist R
• Article: LEUKEMIA RESEARCH. 2010;34(3):335-339

  Lack of association between the MDM2 promoter polymorphism SNP309 and clinical outcome in chronic lymphocytic leukemia

  Kaderi MA; Mansouri M; Zainuddin N; Cahill N; Gunnarsson R; Jansson M; Kimby E; Aleskog A; Lundin J; Glimelius B; Melbye M; Juliusson G; Jurlander J; Rosenquist R
• Article: OBESITY. 2010;18(3):580-587

  dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome

  Davidsson J; Jahnke K; Forsgren M; Collin A; Soller M
• Article: HUMAN MOLECULAR GENETICS. 2010;19(4):697-706

  Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

  Velho S; Oliveira C; Paredes J; Sousa S; Leite M; Matos P; Milanezi F; Ribeiro AS; Mendes N; Licastro D; Karhu A; Oliveira MJ; Ligtenberg M; Hamelin R; Carneiro F; Lindblom A; Peltomaki P; Castedo S; Schwartz SJ; Jordan P; Aaltonen LA; Hofstra RMW; Suriano G; Stupka E; Fialho AM; Seruca R
• Article: NATURE GENETICS. 2010;42(2):132-136

  Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

  Crowther-Swanepoel D; Broderick P; Di Bernardo MC; Dobbins SE; Torres M; Mansouri M; Ruiz-Ponte C; Enjuanes A; Rosenquist R; Carracedo A; Jurlander J; Campo E; Juliusson G; Montserrat E; Smedby KE; Dyer MJS; Matutes E; Dearden C; Sunter NJ; Hall AG; Mainou-Fowler T; Jackson GH; Summerfield G; Harris RJ; Pettitt AR; Allsup DJ; Bailey JR; Pratt G; Pepper C; Fegan C; Parker A; Oscier D; Allan JM; Catovsky D; Houlston RS
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;84(2):117-127

  Applicability of IG/TCR gene rearrangements as targets for minimal residual disease assessment in a population-based cohort of Swedish childhood acute lymphoblastic leukaemia diagnosed 2002-2006

  Thorn I; Forestier E; Thuresson B; Wasslavik C; Malec M; Li A; Lindstrom-Eriksson E; Botling J; Barbany G; Jacobsson S; Olofsson T; Porwit A; Sundstrom C; Rosenquist R
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;84(2):109-116

  IGHV3-21 gene usage is associated with high TCL1 expression in chronic lymphocytic leukemia

  Mansouri MR; Sevov M; Aleskog A; Jondal M; Merup M; Sundstrom C; Osorio L; Rosenquist R
• Article: PROTEIN EXPRESSION AND PURIFICATION. 2010;69(2):159-167

  Increased levels of recombinant human proteins with the Escherichia coli strain Rosetta(DE3).

  Tegel H; Tourle S; Ottosson J; Persson A
• Article: BRITISH JOURNAL OF CANCER. 2010;102(2):447-454

  COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

  Tomlinson IPM; Dunlop M; Campbell H; Zanke B; Gallinger S; Hudson T; Koessler T; Pharoah PD; Niittymaki I; Tuupanen S; Aaltonen LA; Hemminki K; Lindblom A; Forsti A; Sieber O; Lipton L; van Wezel T; Morreau H; Wijnen JT; Devilee P; Matsuda K; Nakamura Y; Castellvi-Bel S; Ruiz-Ponte C; Castells A; Carracedo A; Ho JWC; Sham P; Hofstra RMW; Vodicka P; Brenner H; Hampe J; Schafmayer C; Tepel J; Schreiber S; Volzke H; Lerch MM; Schmidt CA; Buch S; Moreno V; Villanueva CM; Peterlongo P; Radice P; Echeverry MM; Velez A; Carvajal-Carmona L; Scott R; Penegar S; Broderick P; Tenesa A; Houlston RS
• Corrigendum: BRITISH JOURNAL OF CANCER. 2010;102(2):455

  COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (vol 102, pg 447, 2010)

  Tomlinson IPM; Dunlop M; Campbell H; Zanke B; Gallinger S; Hudson T; Koessler T; Pharoah PD; Niittymaki I; Tuupanen S; Aaltonen LA; Hemminki K; Lindblom A; Forsti A; Sieber O; Lipton L; van Wezel T; Morreau H; Wijnen JT; Devilee P; Matsuda K; Nakamura Y; Castellvi-Bel S; Ruiz-Ponte C; Castells A; Carracedo A; Ho JWC; Sham P; Hofstra RMW; Vodicka P; Brenner H; Hampe J; Schafmayer C; Tepel J; Schreiber S; Volzke H; Lerch MM; Schmidt CA; Buch S; Moreno V; Villanueva CM; Peterlongo P; Radice P; Echeverry MM; Velez A; Carvajal-Carmona L; Scott R; Penegar S; Broderick P; Tenesa A; Houlston RS
• Article: BLOOD. 2010;115(2):296-305

  Differential genome-wide array-based methylation profiles in prognostic subsets of chronic lymphocytic leukemia

  Kanduri M; Cahill N; Goransson H; Enstrom C; Ryan F; Isaksson A; Rosenquist R
• Article: LEUKEMIA. 2010;24(1):125-132

  A different ontogenesis for chronic lymphocytic leukemia cases carrying stereotyped antigen receptors: molecular and computational evidence

  Darzentas N; Hadzidimitriou A; Murray F; Hatzi K; Josefsson P; Laoutaris N; Moreno C; Anagnostopoulos A; Jurlander J; Tsaftaris A; Chiorazzi N; Belessi C; Ghia P; Rosenquist R; Davi F; Stamatopoulos K
• Letter: LEUKEMIA. 2010;24(1):211-215

  Large but not small copy-number alterations correlate to high-risk genomic aberrations and survival in chronic lymphocytic leukemia: a high-resolution genomic screening of newly diagnosed patients

  Gunnarsson R; Isaksson A; Mansouri M; Goransson H; Jansson M; Cahill N; Rasmussen M; Staaf J; Lundin J; Norin S; Buhl AM; Smedby KE; Hjalgrim H; Karlsson K; Jurlander J; Juliusson G; Rosenquist R
• Article: GENOME BIOLOGY. 2010;11(7):R78

  Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.

  Wetterbom A; Ameur A; Feuk L; Gyllensten U; Cavelier L
• Article: PUBLIC HEALTH GENOMICS. 2010;13(7-8):396-405

  How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population

  Wolff K; Brun W; Kvale G; Ehrencrona H; Soller M; Nordin K
• Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2010;126(14):1711-1719

  [Shwachman-Diamond syndrome--a diagnostic challenge].

  Toiviainen-Salo S; Savilahti E; Mäkitie R; Mäkitie O
• Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2009;284(50):34935-34943

  Mutation in the Heparan Sulfate Biosynthesis Enzyme EXT1 Influences Growth Factor Signaling and Fibroblast Interactions with the Extracellular Matrix

  Oesterholm C; Barczyk MM; Busse M; Gronning M; Reed RK; Kusche-Gullberg M
• Letter: PRENATAL DIAGNOSIS. 2009;29(13):1279-1281

  False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2

  Collin A; Sladkevicius P; Soller M
• Article: CANCER GENETICS. 2009;195(2):125-131

  A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia.

  Krstic AD; Impera L; Guc-Scekic M; Lakic N; Djokic D; Slavkovic B; Storlazzi CT
• Article: JOURNAL OF PEDIATRICS. 2009;155(6):807-811.e2

  The Natural History of Shwachman-Diamond Syndrome-Associated Liver Disease from Childhood to Adulthood

  Toiviainen-Salo S; Durie PR; Numminen K; Heikkila P; Marttinen E; Savilahti E; Makitie O
• Article: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2009;53(12):1014-1023

  Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability

  Kilpinen-Loisa P; Arvio M; Ilvesmaki V; Makitie O
• Article: AMERICAN JOURNAL OF HEMATOLOGY. 2009;84(12):803-808

  Identification of molecular targets associated with transformed diffuse large B cell lymphoma using highly purified tumor cells

  Andreasson U; Dictor M; Jerkeman M; Berglund M; Sundstrom C; Linderoth J; Rosenquist R; Borrebaeck CAK; Ek S
• Article: HUMAN MOLECULAR GENETICS. 2009;18(22):4442-4456

  Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

  Antoniou AC; Sinilnikova OM; McGuffog L; Healey S; Nevanlinna H; Heikkinen T; Simard J; Spurdle AB; Beesley J; Chen X; Neuhausen SL; Ding YC; Couch FJ; Wang X; Fredericksen Z; Peterlongo P; Peissel B; Bonanni B; Viel A; Bernard L; Radice P; Szabo CI; Foretova L; Zikan M; Claes K; Greene MH; Mai PL; Rennert G; Lejbkowicz F; Andrulis IL; Ozcelik H; Glendon G; Gerdes A-M; Thomassen M; Sunde L; Caligo MA; Laitman Y; Kontorovich T; Cohen S; Kaufman B; Dagan E; Baruch RG; Friedman E; Harbst K; Barbany-Bustinza G; Rantala J; Ehrencrona H; Karlsson P; Domchek SM; Nathanson KL; Osorio A; Blanco I; Lasa A; Benitez J; Hamann U; Hogervorst FBL; Rookus MA; Collee JM; Devilee P; Ligtenberg MJ; van der Luijt RB; Aalfs CM; Waisfisz Q; Wijnen J; van Roozendaal CEP; Peock S; Cook M; Frost D; Oliver C; Platte R; Evans DG; Lalloo F; Eeles R; Izatt L; Davidson R; Chu C; Eccles D; Cole T; Hodgson S; Godwin AK; Stoppa-Lyonnet D; Buecher B; Leone M; Bressac-de Paillerets B; Remenieras A; Caron O; Lenoir GM; Sevenet N; Longy M; Ferrer SF; Prieur F; Goldgar D; Miron A; John EM; Buys SS; Daly MB; Hopper JL; Terry MB; Yassin Y; Singer C; Gschwantler-Kaulich D; Staudigl C; Hansen TVO; Barkardottir RB; Kirchhoff T; Pal P; Kosarin K; Offit K; Piedmonte M; Rodriguez GC; Wakeley K; Boggess JF; Basil J; Schwartz PE; Blank SV; Toland AE; Montagna M; Casella C; Imyanitov EN; Allavena A; Schmutzler RK; Versmold B; Engel C; Meindl A; Ditsch N; Arnold N; Niederacher D; Deissler H; Fiebig B; Suttner C; Schoenbuchner I; Gadzicki D; Caldes T; de la Hoya M; Pooley KA; Easton DF; Chenevix-Trench G
• Article: BLOOD. 2009;114(20):4460-4468

  Extensive intraclonal diversification in a subgroup of chronic lymphocytic leukemia patients with stereotyped IGHV4-34 receptors: implications for ongoing interactions with antigen

  Sutton L-A; Kostareli E; Hadzidimitriou A; Darzentas N; Tsaftaris A; Anagnostopoulos A; Rosenquist R; Stamatopoulos K
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(11):2371-2377

  Calvarial Doughnut Lesions and Osteoporosis: A New Three-Generation Family and Review

  Jaakkola E; Laine CM; Mayranpaa MK; Falck A; Ignatius J; Makitie O
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2009;94(11):4144-4151

  Body Composition and Bone Mineral Density in Children with Premature Adrenarche and the Association of LRP5 Gene Polymorphisms with Bone Mineral Density

  Utriainen P; Jaaskelainen J; Saarinen A; Vanninen E; Makitie O; Voutilainen R
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2009;24(10):1699-1708

  Bone Health in Children and Adolescents After Renal Transplantation

  Valta H; Makitie O; Ronnholm K; Jalanko H
• Article: LEUKEMIA & LYMPHOMA. 2009;50(9):1512-1518

  Low p14ARF expression in de novo acute myeloid leukemia with normal karyotype is associated with poor survival

  Paul E; Uggla B; Deneberg S; Bengtzen S; Hermansson M; Dahlman I; Rosenquist R; Wiman KG; Nahi H
• Article: LEUKEMIA & LYMPHOMA. 2009;50(9):1528-1534

  Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

  Buckley PG; Walsh SH; Laurell A; Sundstrom C; Roos G; Langford CF; Dumanski JP; Rosenquist R
• Article: NATURE GENETICS. 2009;41(9):991-995

  Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

  Wu X; Ye Y; Kiemeney LA; Sulem P; Rafnar T; Matullo G; Seminara D; Yoshida T; Saeki N; Andrew AS; Dinney CP; Czerniak B; Zhang Z-F; Kiltie AE; Bishop DT; Vineis P; Porru S; Buntinx F; Kellen E; Zeegers MP; Kumar R; Rudnai P; Gurzau E; Koppova K; Ignacio Mayordomo J; Sanchez M; Saez B; Lindblom A; de Verdier P; Steineck G; Mills GB; Schned A; Guarrera S; Polidoro S; Chang S-C; Lin J; Chang DW; Hale KS; Majewski T; Grossman HB; Thorlacius S; Thorsteinsdottir U; Aben KKH; Witjes JA; Stefansson K; Amos CI; Karagas MR; Gu J
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2009;7(1):15

  Risk perception after genetic counseling in patients with increased risk of cancer

  Rantala J; Platten U; Lindgren G; Nilsson B; Arver B; Lindblom A; Brandberg Y
• Article: PLOS MEDICINE. 2009;6(8):e1000135

  Decreased Bone Mineral Density in Adults Born with Very Low Birth Weight: A Cohort Study

  Hovi P; Andersson S; Jarvenpaa A-L; Eriksson JG; Strang-Karlsson S; Kajantie E; Makitie O
• Article: NATURE GENETICS. 2009;41(8):909-914

  New common variants affecting susceptibility to basal cell carcinoma

  Stacey SN; Sulem P; Masson G; Gudjonsson SA; Thorleifsson G; Jakobsdottir M; Sigurdsson A; Gudbjartsson DF; Sigurgeirsson B; Benediktsdottir KR; Thorisdottir K; Ragnarsson R; Scherer D; Hemminki K; Rudnai P; Gurzau E; Koppova K; Botella-Estrada R; Soriano V; Juberias P; Saez B; Gilaberte Y; Fuentelsaz V; Corredera C; Grasa M; Hoiom V; Lindblom A; Bonenkamp JJ; van Rossum MM; Aben KKH; de Vries E; Santinami M; Di Mauro MG; Maurichi A; Wendt J; Hochleitner P; Pehamberger H; Gudmundsson J; Magnusdottir DN; Gretarsdottir S; Holm H; Steinthorsdottir V; Frigge ML; Blondal T; Saemundsdottir J; Bjarnason H; Kristjansson K; Bjornsdottir G; Okamoto I; Rivoltini L; Rodolfo M; Kiemeney LA; Hansson J; Nagore E; Mayordomo JI; Kumar R; Karagas MR; Nelson HH; Gulcher JR; Rafnar T; Thorsteinsdottir U; Olafsson JH; Kong A; Stefansson K
• Article: LEUKEMIA RESEARCH. 2009;33(8):1047-1054

  Monitoring minimal residual disease with flow cytometry, antigen-receptor gene rearrangements and fusion transcript quantification in Philadelphia-positive childhood acute lymphoblastic leukemia

  Thorn I; Botling J; Hermansson M; Lonnerholm G; Sundstrom C; Rosenquist R; Barbany G
• Article: ACTA PAEDIATRICA. 2009;98(8):1329-1333

  Insufficient energy and nutrient intake in children with motor disability

  Kilpinen-Loisa P; Pihko H; Vesander U; Paganus A; Ritanen U; Makitie O
• Meeting abstract: MECHANISMS OF DEVELOPMENT. 2009;126:S127

  Identification of Lmnb1 as a possible modifier gene for neural tube defects in the mouse

  Castro S; Leung K-Y; Savery D; Gustavsson P; Copp AJ; Greene NDE
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(7):1407-1414

  Clinical and Molecular Characterization of Duplications Encompassing the Human SHOX Gene Reveal a Variable Effect on Stature

  Thomas NS; Harvey JF; Bunyan DJ; Rankin J; Grigelioniene G; Bruno DL; Tan TY; Tomkins S; Hastings R
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2009;83(1):22-34

  In vitro activity of 20 agents in different prognostic subgroups of chronic lymphocytic leukemia - rolipram and prednisolone active in cells from patients with poor prognosis

  Lindhagen E; Norberg M; Kanduri M; Tobin G; Saisanen L; Aberg M; Gustafsson MG; Sundstrom C; Rosenquist R; Aleskog A
• Meeting abstract: BONE. 2009;45:S109

  Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5

  Laine CM; Susic M; Prescott TE; Netzer C; Fiskerstrand T; Chung B; Cole WG; Sochett E; Makitie O
• Meeting abstract: BONE. 2009;45:S88-S89

  Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability

  Kilpinen-Loisa P; Arvio M; Ilvesmaki V; Makitie O
• Meeting abstract: BONE. 2009;45:S82

  The incidence of fractures in Finnish children has decreased by 18% during the last 22 years

  Mayranpaa MK; Makitie O; Kallio P
• Meeting abstract: BONE. 2009;45:S61

  High prevalence of vertebral compression fractures in patients with juvenile idiopathic arthritis

  Markula-Patjas K; Toiviainen-Salo S; Kerttula L; Honkanen V; Makitie O
• Article: PLOS ONE. 2009;4(6):e6057

  Quantification of Normal Cell Fraction and Copy Number Neutral LOH in Clinical Lung Cancer Samples Using SNP Array Data

  Goransson H; Edlund K; Rydaker M; Rasmussen M; Winquist J; Ekman S; Bergqvist M; Thomas A; Lambe M; Rosenquist R; Holmberg L; Micke P; Botling J; Isaksson A
• Article: PROSTATE. 2009;69(9):909-916

  The Expression of Pluripotency Marker Oct 3/4 in Prostate Cancer and Benign Prostate Hyperplasia

  Monsef N; Soller M; Isaksson M; Abrahamsson PA; Panagopoulos I
• Conference publication: CHROMOSOME RESEARCH. 2009;17:187

  Array-CGH as a method for detection of monogenic disorders

  Anderlid B; Grigelioniene G; Schoumans J; Kvarnung M; Ann N
• Article: BRITISH JOURNAL OF CANCER. 2009;100(10):1674-1679

  TGFBR1 variants TGFBR1*6A and Int7G24A are not associated with an increased familial colorectal cancer risk

  Lundin JS; Vandrovcova J; Song B; Zhou X; Zelada-Hedman M; Werelius B; Houlston RS; Lindblom A
• Article: JOURNAL OF CHROMATOGRAPHY A. 2009;1216(20):4457-4464

  Automated sample preparation method for mass spectrometry analysis on recombinant proteins.

  Steen J; Ramström M; Uhlén M; Hober S; Ottosson J
• Article: CLINICAL ENDOCRINOLOGY. 2009;70(5):725-731

  LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children

  Lappalainen S; Saarinen A; Utriainen P; Voutilainen R; Jaaskelainen J; Makitie O
• Article: LEUKEMIA. 2009;23(5):919-924

  Molecular evidence for EBV and CMV persistence in a subset of patients with chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors.

  Kostareli E; Hadzidimitriou A; Stavroyianni N; Darzentas N; Athanasiadou A; Gounari M; Bikos V; Agathagelidis A; Touloumenidou T; Zorbas I; Kouvatsi A; Laoutaris N; Fassas A; Anagnostopoulos A; Belessi C; Stamatopoulos K
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2009;18(5):1610-1616

  Five Polymorphisms and Breast Cancer Risk: Results from the Breast Cancer Association Consortium

  Gaudet MM; Milne RL; Cox A; Camp NJ; Goode EL; Humphreys MK; Dunning AM; Morrison J; Giles GG; Severi G; Baglietto L; English DR; Couch FJ; Olson JE; Wang X; Chang-Claude J; Flesch-Janys D; Abbas S; Salazar R; Mannermaa A; Kataja V; Kosma V-M; Lindblom A; Margolin S; Heikkinen T; Kampjarvi K; Aaltonen K; Nevanlinna H; Bogdanova N; Coinac I; Schuermann P; Doerk T; Bartram CR; Schmutzler RK; Tchatchou S; Burwinkel B; Brauch H; Torres D; Hamann U; Justenhoven C; Ribas G; Arias JI; Benitez J; Bojesen SE; Nordestgaard BG; Flyger HL; Peto J; Fletcher O; Johnson N; Silva IDS; Fasching PA; Beckmann MW; Strick R; Ekici AB; Broeks A; Schmidt MK; van Leeuwen FE; Van't Veer LJ; Southey MC; Hopper JL; Apicella C; Haiman CA; Henderson BE; Le Marchand L; Kolonel LN; Kristensen V; Alnaes GG; Hunter DJ; Kraft P; Cox DG; Hankinson SE; Seynaeve C; Vreeswijk MPG; Tollenaar RAEM; Devilee P; Chanock S; Lissowska J; Brinton L; Peplonska B; Czene K; Hall P; Li Y; Liu J; Balasubramanian S; Rafii S; Reed MWR; Pooley KA; Conroy D; Baynes C; Kang D; Yoo K-Y; Noh D-Y; Ahn S-H; Shen C-Y; Wang H-C; Yu J-C; Wu P-E; Anton-Culver H; Ziogoas A; Egan K; Newcomb P; Titus-Ernstoff L; Dietz AT; Sigurdson AJ; Alexander BH; Bhatti P; Allen-Brady K; Cannon-Albright LA; Wong J; Spurdle AB; Beesley J; Pharoah PDP; Easton DF; Garcia-Closas M
• Letter: LEUKEMIA & LYMPHOMA. 2009;50(5):829-830

  Infrequent occurrence of PIK3CA mutations in chronic lymphocytic leukemia

  Marincevic M; Tobin G; Rosenquist R
• Article: NATURE GENETICS. 2009;41(5):585-590

  Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

  Ahmed S; Thomas G; Ghoussaini M; Healey CS; Humphreys MK; Platte R; Morrison J; Maranian M; Pooley KA; Luben R; Eccles D; Evans DG; Fletcher O; Johnson N; Silva IDS; Peto J; Stratton MR; Rahman N; Jacobs K; Prentice R; Anderson GL; Rajkovic A; Curb JD; Ziegler RG; Berg CD; Buys SS; McCarty CA; Feigelson HS; Calle EE; Thun MJ; Diver WR; Bojesen S; Nordestgaard BG; Flyger H; Doerk T; Schuermann P; Hillemanns P; Karstens JH; Bogdanova NV; Antonenkova NN; Zalutsky IV; Bermisheva M; Fedorova S; Khusnutdinova E; Kang D; Yoo K-Y; Noh DY; Ahn S-H; Devilee P; van Asperen CJ; Tollenaar RAEM; Seynaeve C; Garcia-Closas M; Lissowska J; Brinton L; Peplonska B; Nevanlinna H; Heikkinen T; Aittomaki K; Blomqvist C; Hopper JL; Southey MC; Smith L; Spurdle AB; Schmidt MK; Broeks A; van Hien RR; Cornelissen S; Milne RL; Ribas G; Gonzalez-Neira A; Benitez J; Schmutzler RK; Burwinkel B; Bartram CR; Meindl A; Brauch H; Justenhoven C; Hamann U; Chang-Claude J; Hein R; Wang-Gohrke S; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Kataja V; Olson JE; Wang X; Fredericksen Z; Giles GG; Severi G; Baglietto L; English DR; Hankinson SE; Cox DG; Kraft P; Vatten LJ; Hveem K; Kumle M; Sigurdson A; Doody M; Bhatti P; Alexander BH; Hooning MJ; van den Ouweland AMW; Oldenburg RA; Schutte M; Hall P; Czene K; Liu J; Li Y; Cox A; Elliott G; Brock I; Reed MWR; Shen C-Y; Yu J-C; Hsu G-C; Chen S-T; Anton-Culver H; Ziogas A; Andrulis IL; Knight JA; Beesley J; Goode EL; Couch F; Chenevix-Trench G; Hoover RN; Ponder BAJ; Hunter DJ; Pharoah PDP; Dunning AM; Chanock SJ; Easton DF
• Conference publication: CANCER RESEARCH. 2009;69

  Sequence variants at the TERT-CLPTM1L locus associated with many cancer type

  Rafnar T; Sulem P; Stacey S; Gudmundsson J; Thoriacius S; Kiemeney L; Zeegers M; Lindblom A; Nagore E; Porru S; Steineck G; Hansson J; Buntinx F; Catalona W; Matullo G; Vineis P; Kiltie A; Mayordomo J; Kumar R; Escudero P; Jonsson T; Saemundsson H; Barkardottir R; Jonsson E; Jonsson S; Olafsson J; Gudbjartsson D; Thorsteinsdottir U; Stefansson K
• Article: JOURNAL OF GENETIC COUNSELING. 2009;18(2):185-194

  Cancer Genetic Counselees' Self-Reported Psychological Distress, Changes in Life, and Adherence to Recommended Surveillance Programs 3-7 Years Post Counseling

  Roshanai AH; Rosenquist R; Lampic C; Nordin K
• Article: NATURE GENETICS. 2009;41(4):460-464

  Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

  Gudmundsson J; Sulem P; Gudbjartsson DF; Jonasson JG; Sigurdsson A; Bergthorsson JT; He H; Blondal T; Geller F; Jakobsdottir M; Magnusdottir DN; Matthiasdottir S; Stacey SN; Skarphedinsson OB; Helgadottir H; Li W; Nagy R; Aguillo E; Faure E; Prats E; Saez B; Martinez M; Eyjolfsson GI; Bjornsdottir US; Holm H; Kristjansson K; Frigge ML; Kristvinsson H; Gulcher JR; Jonsson T; Rafnar T; Hjartarsson H; Mayordomo JI; de la Chapelle A; Hrafnkelsson J; Thorsteinsdottir U; Kong A; Stefansson K
• Article: HUMAN MOLECULAR GENETICS. 2009;18(6):1131-1139

  Association of ESR1 gene tagging SNPs with breast cancer risk

  Dunning AM; Healey CS; Baynes C; Maia A-T; Scollen S; Vega A; Rodriguez R; Barbosa-Morais NL; Ponder BAJ; Low Y-L; Bingham S; Haiman CA; Le Marchand L; Broeks A; Schmidt MK; Hopper J; Southey M; Beckmann MW; Fasching PA; Peto J; Johnson N; Bojesen SE; Nordestgaard B; Milne RL; Benitez J; Hamann U; Ko Y; Schmutzler RK; Burwinkel B; Schuermann P; Doerk T; Heikkinen T; Nevanlinna H; Lindblom A; Margolin S; Mannermaa A; Kosma V-M; Chen X; Spurdle A; Change-Claude J; Flesch-Janys D; Couch FJ; Olson JE; Severi G; Baglietto L; Brresen-Dale A-L; Kristensen V; Hunter DJ; Hankinson SE; Devilee P; Vreeswijk M; Lissowska J; Brinton L; Liu J; Hall P; Kang D; Yoo K-Y; Shen C-Y; Yu J-C; Anton-Culver H; Ziogoas A; Sigurdson A; Struewing J; Easton DF; Garcia-Closas M; Humphreys MK; Morrison J; Pharoah PDP; Pooley KA; Chenevix-Trench G
• Article: IMMUNOLOGICAL REVIEWS. 2009;228(1):58-73

  Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain

  Mohamed AJ; Yu L; Backesjo C-M; Vargas L; Faryal R; Aints A; Christensson B; Berglof A; Vihinen M; Nore BF; Smith CIE
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(3):451-455

  Genitopatellar Syndrome in an Adolescent Female With Severe Osteoporosis and Endocrine Abnormalities

  Penttinen M; Koillinen H; Nlinikoski H; Makitie O; Hietala M
• Article: NATURE GENETICS. 2009;41(3):342-347

  Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

  Gudbjartsson DF; Bjornsdottir US; Halapi E; Helgadottir A; Sulem P; Jonsdottir GM; Thorleifsson G; Helgadottir H; Steinthorsdottir V; Stefansson H; Williams C; Hui J; Beilby J; Warrington NM; James A; Palmer LJ; Koppelman GH; Heinzmann A; Krueger M; Boezen HM; Wheatley A; Altmuller J; Shin HD; Uh S-T; Cheong HS; Jonsdottir B; Gislason D; Park C-S; Rasmussen LM; Porsbjerg C; Hansen JW; Backer V; Werge T; Janson C; Joensson U-B; Ng MCY; Chan J; So WY; Ma R; Shah SH; Granger CB; Quyyumi AA; Levey AI; Vaccarino V; Reilly MP; Rader DJ; Williams MJA; van Rij AM; Jones GT; Trabetti E; Malerba G; Pignatti PF; Boner A; Pescollderungg L; Girelli D; Olivieri O; Martinelli N; Ludviksson BR; Ludviksdottir D; Eyjolfsson GI; Arnar D; Thorgeirsson G; Deichmann K; Thompson PJ; Wjst M; Hall IP; Postma DS; Gislason T; Gulcher J; Kong A; Jonsdottir I; Thorsteinsdottir U; Stefansson K
• Article: JOURNAL OF IMMUNOLOGY. 2009;182(4):2176-2184

  Kinetic of RelA Activation Controls Magnitude of TLR-Mediated IL-12p40 Induction

  Bode KA; Schmitz F; Vargas L; Heeg K; Dalpke AH
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2009;84(2):188-196

  Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

  Heinz-Erian P; Mueller T; Krabichler B; Schranz M; Becker C; Rueschendorf F; Nuernberg P; Rossier B; Vujic M; Booth IW; Holmberg C; Wijmenga C; Grigelioniene G; Kneepkens CMF; Rosipal S; Mistrik M; Kappler M; Michaud L; Doczy L-C; Siu VM; Krantz M; Zoller H; Utermann G; Janecke AR
• Article: NATURE GENETICS. 2009;41(2):221-227

  Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

  Rafnar T; Sulem P; Stacey SN; Geller F; Gudmundsson J; Sigurdsson A; Jakobsdottir M; Helgadottir H; Thorlacius S; Aben KKH; Bloendal T; Thorgeirsson TE; Thorleifsson G; Kristjansson K; Thorisdottir K; Ragnarsson R; Sigurgeirsson B; Skuladottir H; Gudbjartsson T; Isaksson HJ; Einarsson GV; Benediktsdottir KR; Agnarsson BA; Olafsson K; Salvarsdottir A; Bjarnason H; Asgeirsdottir M; Kristinsson KT; Matthiasdottir S; Sveinsdottir SG; Polidoro S; Hoeiom V; Botella-Estrada R; Hemminki K; Rudnai P; Bishop DT; Campagna M; Kellen E; Zeegers MP; de Verdier P; Ferrer A; Isla D; Vidal MJ; Andres R; Saez B; Juberias P; Banzo J; Navarrete S; Tres A; Kan D; Lindblom A; Gurzau E; Koppova K; de Vegt F; Schalken JA; van der Heijden HFM; Smit HJ; Termeer RA; Oosterwijk E; van Hooij O; Nagore E; Porru S; Steineck G; Hansson J; Buntinx F; Catalona WJ; Matullo G; Vineis P; Kiltie AE; Mayordomo JI; Kumar R; Kiemeney LA; Frigge ML; Jonsson T; Saemundsson H; Barkardottir RB; Jonsson E; Jonsson S; Olafsson JH; Gulcher JR; Masson G; Gudbjartsson DF; Kong A; Thorsteinsdottir U; Stefansson K
• Article: ACTA PAEDIATRICA. 2009;98(2):261-265

  Visual impairment is common in children born before 25 gestational weeks-boys are more vulnerable than girls

  Jacobson L; Hard A-L; Horemuzova E; Hammaren H; Hellstrom A
• Article: BMC GENOMICS. 2009;10:56

  Genome-wide analysis of chimpanzee genes with premature termination codons.

  Wetterbom A; Gyllensten U; Cavelier L; Bergström TF
• Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2009;660(1-2):1-11

  Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

  Carvalho M; Pino MA; Karchin R; Beddor J; Godinho-Netto M; Mesquita RD; Rodarte RS; Vaz DC; Monteiro VA; Manoukian S; Colombo M; Ripamonti CB; Rosenquist R; Suthers G; Borg A; Radice P; Grist SA; Monteiro ANA; Billack B
• Article: BLOOD. 2009;113(2):403-411

  Evidence for the significant role of immunoglobulin light chains in antigen recognition and selection in chronic lymphocytic leukemia

  Hadzidimitriou A; Darzentas N; Murray F; Smilevska T; Arvaniti E; Tresoldi C; Tsaftaris A; Laoutaris N; Anagnostopoulos A; Davi F; Ghia P; Rosenquist R; Stamatopoulos K; Belessi C
• Article: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2009;47(12):1467-1469

  Quantitation of RNA decay in dried blood spots during 20 years of storage

  Gauffin F; Nordgren A; Barbany G; Gustafsson B; Karlsson H
• Article: LEUKEMIA RESEARCH. 2009;33(1):60-66

  TP53 mutations predict for poor survival in de novo diffuse large B-cell lymphoma of germinal center subtype

  Zainuddin N; Berglund M; Wanders A; Ren Z-P; Amini R-M; Lindell M; Kanduri M; Roos G; Rosenquist R; Enblad G
• Article: ACTA ONCOLOGICA. 2009;48(7):999-1009

  Does enhanced information at cancer genetic counseling improve counselees' knowledge, risk perception, satisfaction and negotiation of information to at-risk relatives? - a randomized study

  Roshanai AH; Rosenquist R; Lampic C; Nordin K
• Article: CLINICAL AND EXPERIMENTAL ALLERGY. 2009;39(1):110-115

  Allergy and autoimmune disease: a registry-based study

  Lindelof B; Granath F; Tengvall-Linder M; Lindelof H; Ekbom A
• Article: BIOTECHNOLOGY JOURNAL. 2009;4(1):51-57

  High-throughput protein production--lessons from scaling up from 10 to 288 recombinant proteins per week.

  Tegel H; Steen J; Konrad A; Nikdin H; Pettersson K; Stenvall M; Tourle S; Wrethagen U; Xu L; Yderland L; Uhlén M; Hober S; Ottosson J
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2009;71(5):290-297

  Impact of Aromatase Inhibitor Therapy on Bone Turnover, Cortical Bone Growth and Vertebral Morphology in Pre- and Peripubertal Boys with Idiopathic Short Stature

  Hero M; Makitie O; Kroger H; Nousiainen E; Toiviainen-Salo S; Dunkel L
• Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2009;88(4):428-433

  Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea

  Arvio M; Kilpinen-Loisa P; Tiitinen A; Huovinen K; Makitie O
• Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241

  Genotype-phenotype variations in a family with an unique X to 15 rearrangement

  Lindgren AC; Lindstrand A; Hagenas L; Malmgren H; Blennow E; Grigelioniene G
• Article: MOLECULAR SYSTEMS BIOLOGY. 2009;5:msb200993

  A global view of protein expression in human cells, tissues, and organs.

  Pontén F; Gry M; Fagerberg L; Lundberg E; Asplund A; Berglund L; Oksvold P; Björling E; Hober S; Kampf C; Navani S; Nilsson P; Ottosson J; Persson A; Wernérus H; Wester K; Uhlén M
• Article: NEW ENGLAND JOURNAL OF MEDICINE. 2008;359(24):2567-2578

  Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome

  Burn J; Bishop DT; Mecklin J-P; Macrae F; Moeslein G; Olschwang S; Bisgaard M-L; Ramesar R; Eccles D; Maher ER; Bertario L; Jarvinen HJ; Lindblom A; Evans DG; Lubinski J; Morrison PJ; Ho JWC; Vasen HFA; Side L; Thomas HJW; Scott RJ; Dunlop M; Barker G; Elliott F; Jass JR; Fodde R; Lynch HT; Mathers JC
• Article: LEUKEMIA & LYMPHOMA. 2008;49(12):2333-2343

  Rapamycin shows anticancer activity in primary chronic lymphocytic leukemia cells in vitro, as single agent and in drug combination

  Aleskog A; Norberg M; Nygren P; Rickardson L; Kanduri M; Tobin G; Aberg M; Gustafsson MG; Rosenquist R; Lindhagen E
• Editorial: JOURNAL OF INTERNAL MEDICINE. 2008;264(6):512-513

  Introduction: the role of inflammation, autoimmune disease and infectious agents in development of leukaemia and lymphoma

  Rosenquist R
• Article: NATURE GENETICS. 2008;40(11):1307-1312

  Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

  Kiemeney LA; Thorlacius S; Sulem P; Geller F; Aben KKH; Stacey SN; Gudmundsson J; Jakobsdottir M; Bergthorsson JT; Sigurdsson A; Blondal T; Witjes JA; Vermeulen SH; Hulsbergen-van de Kaa CA; Swinkels DW; Ploeg M; Cornel EB; Vergunst H; Thorgeirsson TE; Gudbjartsson D; Gudjonsson SA; Thorleifsson G; Kristinsson KT; Mouy M; Snorradottir S; Placidi D; Campagna M; Arici C; Koppova K; Gurzau E; Rudnai P; Kellen E; Polidoro S; Guarrera S; Sacerdote C; Sanchez M; Saez B; Valdivia G; Ryk C; de Verdier P; Lindblom A; Golka K; Bishop DT; Knowles MA; Nikulasson S; Petursdottir V; Jonsson E; Geirsson G; Kristjansson B; Mayordomo JI; Steineck G; Porru S; Buntinx F; Zeegers MP; Fletcher T; Kumar R; Matullo G; Vineis P; Kiltie AE; Gulcher JR; Thorsteinsdottir U; Kong A; Rafnar T; Stefansson K
• Article: BMC BIOINFORMATICS. 2008;9:409

  Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios

  Staaf J; Vallon-Christersson J; Lindgren D; Juliusson G; Rosenquist R; Hoglund M; Borg A; Ringner M
• Review: BIRTH DEFECTS RESEARCH. 2008;82(10):728-735

  Grainyhead Genes and Mammalian Neural Tube Closure

  Gustavsson P; Copp AJ; Greene NDE
• Article: PEDIATRIC BLOOD & CANCER. 2008;51(4):461-467

  Myocardial function in patients with Shwachman-Diamond syndrome:: Aspects to consider before stem cell transplantation

  Toiviainen-Salo S; Pitkanen O; Holmstrom M; Koikkalainen J; Lotjonen J; Lauerma K; Taskinen M; Savilahti E; Smallhorn J; Makitie O; Kivisto S
• Article: CELL AND TISSUE RESEARCH. 2008;334(1):93-102

  Downregulation of tissue factor (TF) by RNA interference induces apoptosis and impairs cell survival of primary endothelium and tumor cells

  Osterholm C; Li S; Ekberg H; Hedner U; Holgersson J
• Article: ARTHRITIS & RHEUMATOLOGY. 2008;58(10):3224-3238

  Vascular Endothelial Growth Factor Is Highly Expressed in Muscle Tissue of Patients With Polymyositis and Patients With Dermatomyositis

  Grundtman C; Tham E; Ulfgren A-K; Lundberg IE
• Review: MOLECULAR & CELLULAR PROTEOMICS. 2008;7(10):2019-2027

  A Genecentric Human Protein Atlas for Expression Profiles Based on Antibodies

  Berglund L; Bjoerling E; Oksvold P; Fagerberg L; Asplund A; Szigyarto CA-K; Persson A; Ottosson J; Wernerus H; Nilsson P; Lundberg E; Sivertsson A; Navani S; Wester K; Kampf C; Hober S; Ponten F; Uhlen M
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(18):2370-2375

  Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

  Taskinen M; Ranki A; Pukkala E; Jeskanen L; Kaitila I; Makitie O
• Article: EPILEPSY RESEARCH. 2008;81(1):69-79

  Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases

  Davidsson J; Collin A; Olsson ME; Lundgren J; Soller M
• Article: BLOOD CELLS MOLECULES AND DISEASES. 2008;41(2):215-218

  Immunoglobulin kappa gene repertoire and somatic hypermutation patterns in follicular lymphoma.

  Smilevska T; Tsakou E; Hadzidimitriou A; Bikos V; Stavroyianni N; Laoutaris N; Fassas A; Alphanagnostopoulos A; Papadaki T; Belessi C; Stamatopoulos K
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2008;81(3):218-225

  U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner

  Bostrom H; Leuchowius K-J; Hallbook H; Nordgren A; Thorn I; Thorselius M; Rosenquist R; Soderberg O; Sundstrom C
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2008;26(24):3943-3949

  Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: A prospective 1-year follow-up study

  Brandberg Y; Sandelin K; Erikson S; Jurell G; Liljegren A; Lindblom A; Linden A; von Wachenfeldt A; Wickman M; Arver B
• Article: GASTROENTEROLOGY. 2008;135(2):419-428

  The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

  Senter L; Clendenning M; Sotamaa K; Hampel H; Green J; Potter JD; Lindblom A; Lagerstedt K; Thibodeau SN; Lindor NM; Young J; Winship I; Dowty JG; White DM; Hopper JL; Baglietto L; Jenkins MA; de la Chaple A
• Article: GENES CHROMOSOMES & CANCER. 2008;47(8):697-711

  Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia -: A comparative study of four differently designed, high resolution Microarray platforms

  Gunnarsson R; Staaf J; Jansson M; Ottesen AM; Goransson H; Liljedahl U; Ralfkiaer U; Mansouri M; Buhl AM; Smedby KE; Hialgrim H; Syvanen A-C; Borg A; Isaksson A; Jurlander J; Juliusson G; Rosenquist R
• Corrigendum: NATURE GENETICS. 2008;40(8):1029

  ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma (vol 40, pg 886, 2008)

  Gudbjartsson DF; Sulem P; Stacey SN; Goldstein AM; Rafnar T; Sigurgeirsson B; Benediktsdottir KR; Thorisdottir K; Ragnarsson R; Sveinsdottir SG; Magnusson V; Lindblom A; Kostulas K; Botella-Estrada R; Soriano V; Juberias P; Grasa M; Saez B; Andres R; Scherer D; Rudnai P; Gurzau E; Koppova K; Kiemeney LA; Jakobsdottir M; Steinberg S; Helgason A; Gretarsdottir S; Tucker MA; Mayordomo JI; Nagore E; Kumar R; Hansson J; Olafsson JH; Gulcher J; Kong A; Thorsteinsdottir U; Stefansson K
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2008;26(20):3434-3439

  Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants:: Report by the Colorectal Adenoma/Carcinoma Prevention Programme 2

  Liljegren A; Barker G; Elliott F; Bertario L; Bisgaard ML; Eccles D; Evans G; Macrae F; Maher E; Lindblom A; Rotstein S; Nilsson B; Mecklin J-P; Moeslein G; Jass J; Fodde R; Mathers J; Burn J; Bishop DT
• Article: CLINICAL GENETICS. 2008;74(1):31-38

  CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

  Wincent J; Holmberg E; Stromland K; Soller M; Mirzaei L; Djureinovic T; Robinson KL; Anderlid BM; Schoumans J
• Article: NATURE GENETICS. 2008;40(7):886-891

  ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

  Gudbjartsson DF; Sulem P; Stacey SN; Goldstein AM; Rafnar T; Sigurgeirsson B; Benediktsdottir KR; Thorisdottir K; Ragnarsson R; Sveinsdottir SG; Magnusson V; Lindblom A; Kostulas K; Botella-Estrada R; Soriano V; Juberias P; Grasa M; Saez B; Andres R; Scherer D; Rudnai P; Gurzau E; Koppova K; Kiemeney LA; Jakobsdottir M; Steinberg S; Helgason A; Gretarsdottir S; Tucker MA; Mayordomo JI; Nagore E; Kumar R; Hansson J; Olafsson JH; Gulcher J; Kong A; Thorsteinsdottir U; Stefansson K
• Letter: HAEMOPHILIA. 2008;14(4):846-848

  Female haemophilia A caused by skewed X inactivation.

  Knobe KE; Sjörin E; Soller MJ; Liljebjörn H; Ljung RCR
• Article: MOLECULAR MICROBIOLOGY. 2008;69(2):317-330

  The styrene-responsive StyS/StyR regulation system controls expression of an auxiliary phenylacetyl-coenzyme A ligase: implications for rapid metabolic coupling of the styrene upper- and lower-degradative pathways

  del Peso-Santos T; Shingler V; Perera J
• Article: CANCER LETTERS. 2008;265(1):98-106

  Phenotypic protein profiling of different B cell sub-populations using antibody CD-microarrays

  Ellmark P; Hogerkorp CM; Ek S; Belov L; Berglund M; Rosenquist R; Christopherson RI; Borrebaeck CAK
• Letter: BLOOD. 2008;111(12):5756-5757

  Or both? Response

  Roos G; Rosenquist R; Stilgenbauer S
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(12):1558-1564

  Shwachman-Diamond syndrome is associated with structural brain alterations on MRI

  Toiviainen-Salo S; Makitie O; Mannerkoski M; Hamalainen J; Valanne L; Autti T
• Review: LEUKEMIA & LYMPHOMA. 2008;49(6):1042-1049

  Molecular genetic characterization reveals new subsets of mantle cell lymphoma

  Thelander EF; Rosenquist R
• Article: HUMAN GENETICS. 2008;123(5):553

  Gene symbol: MEN1. Disease: Multiple endocrine neoplasia type 1.

  Tham E
• Article: NATURE GENETICS. 2008;40(6):703-706

  Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer

  Stacey SN; Manolescu A; Sulem P; Thorlacius S; Gudjonsson SA; Jonsson GF; Jakobsdottir M; Bergthorsson JT; Gudmundsson J; Aben KK; Strobbe LJ; Swinkels DW; van Engelenburg KCA; Henderson BE; Kolonel LN; Le Marchand L; Millastre E; Andres R; Saez B; Lambea J; Godino J; Polo E; Tres A; Picelli S; Rantala J; Margolin S; Jonsson T; Sigurdsson H; Jonsdottir T; Hrafnkelsson J; Johannsson J; Sveinsson T; Myrdal G; Grimsson HN; Sveinsdottir SG; Alexiusdottir K; Saemundsdottir J; Sigurdsson A; Kostic J; Gudmundsson L; Kristjansson K; Masson G; Fackenthal JD; Adebamowo C; Ogundiran T; Olopade OI; Haiman CA; Lindblom A; Mayordomo JI; Kiemeney LA; Gulcher JR; Rafnar T; Thorsteinsdottir U; Johannsson OT; Kong A; Stefansson K
• Article: CLINICAL RHEUMATOLOGY. 2008;27(6):809-812

  Bisphosphonate treatment in craniofacial fibrous dysplasia -: a case report and review of the literature

  Makitie AA; Tornwall J; Makitie O
• Article: JOURNAL OF MEDICAL GENETICS. 2008;45(6):340-345

  A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

  Clendenning M; Senter L; Hampel H; Robinson KL; Sun S; Buchanan D; Walsh MD; Nilbert M; Green J; Potter J; Lindblom A; de la Chapelle A
• Article: JOURNAL OF RHEUMATOLOGY. 2008;35(5):920-926

  Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene

  Avcin T; Makitie O; Susic M; Miller S; Thorne C; Tenenbaum J; Laxer RM; Cole WG
• Article: BLOOD. 2008;111(9):4617-4626

  Proteasome-dependent autoregulation of Bruton tyrosine kinase (Btk) promoter via NF-κB

  Yu L; Mohamed AJ; Simonson OE; Vargas L; Blomberg KEM; Bjorkstrand B; Arteaga HJ; Notre BF; Smith CIE
• Article: JOURNAL OF PEDIATRIC SURGERY. 2008;43(4):700-704

  Bone health in patients with cloacal exstrophy and persistent cloaca after bladder augmentation

  Taskinen S; Rintala R; Makitie O
• Article: BMC CANCER. 2008;8:87

  Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q

  Picelli S; Vandrovcova J; Jones S; Djureinovic T; Skoglund J; Zhou X-L; Velculescu VE; Vogelstein B; Lindblom A
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;141(1):69-72

  Expression of the human germinal-centre-associated lymphoma protein in diffuse large B-cell lymphomas in patients with rheumatoid arthritis

  Baecklund E; Natkunam Y; Backlin C; Iliadou A; Askling J; Ekbom A; Feltelius N; Klareskog L; Enblad G; Lossos IS; Levy R; Sundstroem C; Rosenquist R
• Article: DEVELOPMENTAL DYNAMICS. 2008;237(4):1090-1098

  Transcriptional activity and developmental expression of liver X receptor (lxr) in zebrafish

  Archer A; Lauter G; Hauptmann G; Mode A; Gustafsson J-A
• Article: BLOOD. 2008;111(7):3838-3848

  A new perspective:: molecular motifs on oxidized LDL, apoptotic cells, and bacteria are targets for chronic lymphocytic leukemia antibodies

  Myhrinder AL; Hellqvist E; Sidorova E; Soederberg A; Baxendale H; Dahle C; Willander K; Tobin G; Baeckman E; Soederberg O; Rosenquist R; Hoerkkoe S; Rosen A
• Article: MOLECULAR MEDICINE REPORTS. 2008;1(2):263-268

  Mutation screening of the SMARCA3 gene in Swedish colorectal cancer patients

  Djureinovic T; Picelli S; Kalushkova A; Lindblom A
• Article: JOURNAL OF PEDIATRICS. 2008;152(3):422-428

  Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis

  Toiviainen-Salo S; Kajosaari M; Piilonen A; Makitie O
• Article: LEUKEMIA & LYMPHOMA. 2008;49(3):477-487

  Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia

  Thelander EF; Ichimura K; Corcoran M; Barbany G; Nordgren A; Heyman M; Berglund M; Mungall A; Rosenquist R; Collins VP; Grander D; Larsson C; Lagercrantz S
• Article: JOURNAL OF PEDIATRICS. 2008;152(3):434-436

  Magnetic resonance Imaging findings of the pancreas in patients with Shwachman-Diamond Syndrome and mutations in the SBDS gene

  Toiviainen-Salo S; Raade M; Durie PR; Ip W; Marttinen E; Savilahti E; Makitie O
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(6):665-672

  Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol:: frequent late relapses but good overall survival

  Forestier E; Heyman M; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2008;16(3):343-349

  A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma

  Hu L-F; Qiu Q-H; Fu S-M; Sun D; Magnusson K; He B; Lindblom A; Ernberg I
• Meeting abstract: BONE. 2008;42:S56

  No disease-causing mutations in LRP6 or PTHrP found in 26 patients with juvenile idiopathic osteoporosis

  Koltin D; Laine CM; Saarinen A; Susic M; Parker K; Cole WG; Sochett E; Makitie O
• Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2008;366(3):848-851

  Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

  Gupta M; Milani L; Hermansson M; Simonsson B; Markevarn B; Syvdnen AC; Barbany G
• Article: BLOOD. 2008;111(4):2246-2252

  Short telomeres are associated with genetic complexity, high-risk genomic aberrations, and short survival in chronic lymphocytic leukemia

  Roos G; Kroeber A; Grabowski P; Kienle D; Buehler A; Doehner H; Rosenquist R; Stilgenbauer S
• Article: CANCER LETTERS. 2008;259(2):138-145

  B cell lymphomas express CX₃CR1 a non-B cell lineage adhesion molecule

  Andreasson U; Ek S; Merz H; Rosenquist R; Andersen N; Jerkeman M; Dictor M; Borrebaeck CAK
• Article: IMMUNOLOGY. 2008;123(2):239-249

  Defective Toll-like receptor 9-mediated cytokine production in B cells from Bruton's tyrosine kinase-deficient mice

  Hasan M; Lopez-Herrera G; Blomberg KEM; Lindvall JM; Berglof A; Smith CIE; Vargas L
• Article: JOURNAL OF PEDIATRIC UROLOGY. 2008;4(1):40-42

  Intestinal bladder augmentation at school age has no adverse effects on growth.

  Taskinen S; Mäkitie O; Fagerholm R
• Article: LEUKEMIA. 2008;22(2):339-343

  The BCL-2 promoter (-938C>A) polymorphism does not predict clinical outcome in chronic lymphocytic leukemia

  Kaderi MA; Norberg M; Murray F; Merup M; Sundstrom C; Roos G; Aleskog A; Karlsson K; Axelsson T; Tobin G; Rosenquist R
• Article: NEURO-ONCOLOGY. 2008;10(1):2-9

  Gene expression analyses of grade II gliomas and identification of rPTPβ/ζ as a candidate oligodendroglioma marker

  Haegerstrand D; Smits A; Eriksson A; Sigurclarclottir S; Olofsson T; Hartman M; Nister M; Kalimo H; Oetman A
• Review: GENES CHROMOSOMES & CANCER. 2008;47(2):149-158

  Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias:: A nordic series of 24 cases and review of the literature

  Forestier E; Gauffin F; Andersen MK; Autio K; Borgstrom G; Golovleva I; Gustafsson B; Heim S; Heinonen K; Heyman M; Hovland R; Johannsson JH; Kerndrup G; Rosenquist R; Schoumans J; Swolin B; Johansson B; Nordgren A
• Article: BLOOD. 2008;111(3):1524-1533

  Stereotyped patterns of somatic hypermutation in subsets of patients with chronic lymphocytic leukemia: implications for the role of antigen selection in leukemogenesis

  Murray F; Darzentas N; Hadzidimitriou A; Tobin G; Boudjogra M; Scielzo C; Laoutaris N; Karlsson K; Baran-Marzsak F; Tsaftaris A; Moreno C; Anagnostopoulos A; Caligaris-Cappio F; Vaur D; Ouzounis C; Belessi C; Ghia P; Davi F; Rosenquist R; Stamatopoulos K
• Article: HUMAN MOLECULAR GENETICS. 2008;17(2):256-265

  Alpha-cardiac actin mutations produce atrial septal defects.

  Matsson H; Eason J; Bookwalter CS; Klar J; Gustavsson P; Sunnegårdh J; Enell H; Jonzon A; Vikkula M; Gutierrez I; Granados-Riveron J; Pope M; Bu'Lock F; Cox J; Robinson TE; Song F; Brook DJ; Marston S; Trybus KM; Dahl N
• Article: BMC MEDICAL GENETICS. 2008;9:2

  Array based characterization of a terminal deletion involving chromosome subband 15q26.2:: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

  Davidsson J; Collin A; Bjorkhem G; Soller M
• Review: JOURNAL OF CLINICAL DENSITOMETRY. 2008;11(1):29-42

  Dual-energy X-ray aborptiometry assessment in children and adolescents with diseases that may affect the skeleton:: The 2007 ISCD Pediatric Official Positions

  Bishop N; Braillon P; Burnham J; Cimaz R; Davies J; Fewtrell M; Hogler W; Kennedy K; Makitie O; Mughal Z; Shaw N; Vogiatzi M; Ward K; Bianchi ML
• Article: GENOME BIOLOGY. 2008;9(9):R136

  Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays

  Staaf J; Lindgren D; Vallon-Christersson J; Isaksson A; Goransson H; Juliusson G; Rosenquist R; Hoglund M; Borg A; Ringner M
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2008;69(4):212-220

  Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets

  Makitie O; Toiviainen-Salo S; Marttinen E; Kaitila I; Sochett E; Sipila I
• Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2008;8(1):150-157

  Impaired bone health in adolescents after liver transplantation

  Valta H; Jalanko H; Holmberg C; Helenius I; Makitie O
• Letter: LEUKEMIA. 2008;22(1):212-214

  Determination of IGHV gene mutational status in chronic lymphocytic leukemia: bioinformatics advances meet clinical needs

  Davi F; Rosenquist R; Ghia P; Belessi C; Stamatopoulos K
• Conference publication: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2008;43:32

  Inherited exocrine pancreatic dysfunction -: Shwachman-Diamond syndrome

  Makitie O
• Conference publication: SCANDINAVIAN JOURNAL OF RHEUMATOLOGY. 2008;37:10

  Osteoporosis: Treatment and follow-up

  Makitie O
• Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2008;70:69

  Genetic variation in LRP5 associates with metabolic characteristics in prepubertal children

  Lappalainen S; Saarinen A; Utriainen P; Voutilainen R; Jaaskelainen J; Makitie O
• Letter: LEUKEMIA. 2007;21(12):2539-2540

  Reply to 'Male preponderance in chronic lymphocytic leukemia utilizing IGHV1-69' When size of the sample matters

  Ghia P; Belessi C; Davi F; Rosenquist R; Stamatopoulos K
• Editorial: FERTILITY AND STERILITY. 2007;88(6):1681-1684

  DNA mismatch repair gene hMLH3 variants in meiotic arrest

  Ferras C; Zhou X-L; Sousa M; Lindblom A; Barros A
• Article: BONE. 2007;41(6):965-972

  Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

  Toiviainen-Salo S; Mayranpaa MK; Durie PR; Richards N; Grynpas M; Ellis L; Ikegawa S; Cole WG; Rommens J; Marttinen E; Savilahti E; Makitie O
• Article: JOURNAL OF COMPARATIVE NEUROLOGY. 2007;505(4):337-351

  Distribution of corticotropin-releasing hormone in the developing zebrafish brain

  Chandrasekar G; Lauter G; Hauptmann G
• Article: SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY. 2007;42(11):1332-1338

  Polymorphism in the promoter region of the NFKB1 gene increases the risk of sporadic colorectal cancer in Swedish but not in Chinese populations

  Lewander A; Butchi AKR; Gao J; He L-J; Lindblom A; Arbman G; Carstensen J; Zhang Z-Y; Sun X-F
• Article: HUMAN MOLECULAR GENETICS. 2007;16(21):2640-2646

  Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.

  Gustavsson P; Greene NDE; Lad D; Pauws E; de Castro SCP; Stanier P; Copp AJ
• Article: HAEMATOLOGICA. 2007;92(11):1495-1504

  Thioredoxin, produced by stromal cells retrieved from the lymph node microenvironment, rescues chronic lymphocytic leukemia cells from apoptosis in vitro

  Backman E; Bergh A-C; Lagerdahl I; Rydberg B; Sundstrom C; Tobin G; Rosenquist R; Linderholm M; Rosen A
• Article: BRITISH JOURNAL OF CANCER. 2007;97(8):1175-1179

  TGFBR1*6A and Int7G24A variants of transforming growth factor-β receptor 1 in Swedish familial and sporadic breast cancer

  Song B; Margolin S; Skoglund J; Zhou X; Rantala J; Picelli S; Werelius B; Lindblom A
• Article: BJU INTERNATIONAL. 2007;100(4):906-910

  Skeletal health after intestinal bladder augmentation:: findings in 54 patients

  Taskinen S; Fagerholm R; Makitie O
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2007;106(1):57-64

  A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer

  Jansson A; Carlsson J; Olsson A; Storm P; Margolin S; Gunnarsson C; Stenmark-Askmalm M; Lindblom A; Persson B; Stal O
• Article: BRITISH JOURNAL OF CANCER. 2007;97(6):769-777

  Upregulation of bfl-1 is a potential mechanism of chemoresistance in B-cell chronic lymphocytic leukaemia

  Olsson A; Norberg M; Okvist A; Derkow K; Choudhury A; Tobin G; Celsing F; Osterborg A; Rosenquist R; Jondal M; Osorio LM
• Article: CLINICAL RHEUMATOLOGY. 2007;26(10):1773-1777

  Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease

  Bondestam J; Mayranpaa MK; Ikegawa S; Marttinen E; Kroger H; Makitie O
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2007;92(9):3389-3395

  Clinical testing for mutations in the MEN1 gene in Sweden:: A report on 200 unrelated cases

  Tham E; Grandell U; Lindgren E; Toss G; Skogseid B; Nordenskjold M
• Article: BONE. 2007;41(3):353-359

  Bone densitometry in the diagnosis of vertebral fractures in children:: Accuracy of vertebral fracture assessment

  Mayranpaa MK; Helenius I; Valta H; Mayranpaa MI; Toiviainen-Salo S; Makitie O
• Article: LEUKEMIA RESEARCH. 2007;31(9):1219-1230

  Detailed assessment of copy number alterations revealing homozygous deletions in 1p and 13q in mantle cell lymphoma

  Thelander EF; Ichimura K; Collins VP; Walsh SH; Barbany G; Hagberg A; Laurell A; Rosenquist R; Larsson C; Lagercrantz S
• Article: BMC CANCER. 2007;7:163

  CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer

  Margolin S; Eiberg H; Lindblom A; Bisgaard ML
• Article: NEUROPEDIATRICS. 2007;38(4):167-172

  High-dose vitamin D supplementation in children with cerebral palsy or neuromuscular disorder

  Kilpinen-Loisa P; Nenonen H; Pihko H; Makitie O
• Article: CANCER. 2007;110(2):442-451

  Bone health in children and adolescents after allogeneic stem cell transplantation -: High prevalence of vertebral compression fractures

  Taskinen M; Saarinen-Pihkala UM; Hovi L; Vettenranta K; Makitie O
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2007;138(1):68-71

  Mast cell infiltration is a favourable prognostic factor in diffuse large B-cell lymphoma

  Hedstrom G; Berglund M; Molin D; Fischer M; Nilsson G; Thunberg U; Book M; Sundstrom C; Rosenquist R; Roos G; Erlanson M; Amini R-M; Enblad G
• Article: NATURE GENETICS. 2007;39(7):865-869

  Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

  Stacey SN; Manolescu A; Sulem P; Rafnar T; Gudmundsson J; Gudjonsson SA; Masson G; Jakobsdottir M; Thorlacius S; Helgason A; Aben KK; Strobbe LJ; Albers-Akkers MT; Swinkels DW; Henderson BE; Kolonel LN; Le Marchand L; Millastre E; Andres R; Godino J; Garcia-Prats MD; Polo E; Tres A; Mouy M; Saemundsdottir J; Backman VM; Gudmundsson L; Kristjansson K; Bergthorsson JT; Kostic J; Frigge ML; Geller F; Gudbjartsson D; Sigurdsson H; Jonsdottir T; Hrafnkelsson J; Johannsson J; Sveinsson T; Myrdal G; Grimsson HN; Jonsson T; von Holst S; Werelius B; Margolin S; Lindblom A; Mayordomo JI; Haiman CA; Kiemeney LA; Johannsson OT; Gulcher JR; Thorsteinsdottir U; Kong A; Stefansson K
• Article: LEUKEMIA RESEARCH. 2007;31(7):931-938

  Gene expression analysis identifies a genetic signature potentially associated with response to α-IFN in chronic phase CML patients

  Hagberg A; Olsson-Stromberg U; Wickenberg-Bolin U; Goransson H; Isaksson A; Bengtsson M; Hoglund M; Simonsson B; Barbany G
• Article: LEUKEMIA. 2007;21(7):1481-1487

  Characterization of a reference material for BCR-ABL (M-BCR) mRNA quantitation by real-time amplification assays:: towards new standards for gene expression measurements

  Saldanha J; Silvy M; Beaufils N; Arlinghaus R; Barbany G; Branford S; Cayuela J-M; Cazzaniga G; Gonzalez M; Grimwade D; Kairisto V; Miyamura K; Lawler M; Lion T; Macintyre E; Mahon F-X; Muller MC; Ostergaard M; Pfeifer H; Saglio G; Sawyers C; Spinelli O; van der Velden VHJ; Wang JQ; Zoi K; Patel V; Phillips P; Matejtschuk P; Gabert J
• Conference publication: HUMAN REPRODUCTION. 2007;22:I205-I206

  DNA mismatch repair gene hMLH3 variants in meiotic arrest

  Silva J; Ferras C; Zhou X; Lindblom A; Barros A; Sousa M
• Article: CLINICAL CANCER RESEARCH. 2007;13(12):3748-3752

  Lack of an association between the TGFBR1*6A variant and colorectal cancer risk

  Skoglund J; Song B; Dalen J; Dedorson S; Edler D; Hjern F; Holmo J; Lenander C; Lindforss U; Lundqvist N; Olivecrona H; Olsson L; Pahlman L; Rutegard J; Smedh K; Toernqvist A; Houlston RS; Lindblom A
• Article: CELL. 2007;129(5):879-890

  Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia

  Raval A; Tanner SM; Byrd JC; Angerman EB; Perko JD; Chen S-S; Hackanson B; Grever MR; Lucas DM; MatkoviC JJ; Lin TS; Kipps TJ; Murray F; Weisenburger D; Sanger W; Lynch J; Watson P; Jansen M; Yoshinaga Y; Rosenquist R; de Jong PJ; Coggill P; Beck S; Lynch H; de la Chapelle A; Plass C
• Article: JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES. 2007;852(1-2):188-194

  A general, robust method for the quality control of intact proteins using LC-ESI-MS

  Sundqvist G; Stenvall M; Berglund H; Ottosson J; Brumer H
• Meeting abstract: BONE. 2007;40(6):S82-S83

  High prevalence of asymptornatic vertebral fractures in children after orthotopic liver transplantation

  Valta H; Jalanko H; Holmberg C; Makitie O
• Meeting abstract: BONE. 2007;40(6):S74-S75

  Heterozygous LRP5 mutations in children with fractures

  Saarinen A; Mayranpaa MK; Lehesjoki AE; Makitie O
• Meeting abstract: BONE. 2007;40(6):S62-S63

  Bone densitometry in the diagnosis of vertebral fractures in children:: Accuracy of instant vertebral assessment

  Mayranpaa MK; Helenius I; Valta H; Mayranpaa MI; Toiviainen-Salo S; Makitie O
• Meeting abstract: BONE. 2007;40(6):S58

  A new autosomal dominant form of early onset primary osteoporosis in a 3-generation Finnish family

  Laine CM; Toiviainen-Salo S; Saarinen A; Mayranpaa MK; Makitie O
• Meeting abstract: BONE. 2007;40(6):S55-S56

  Low bone mineral density and increased fracture rate in disabled children

  Kilpinen-Loisa P; Paasio T; Soiva M; Ritanen U; Lautala P; Pihko H; Makitie O
• Conference publication: BONE. 2007;40(6):S50

  The impact of aromatase inhibitor therapy on bone turnover, cortical bone growth and vertebral morphology in peripubertal boys with idiopathic short stature

  Hero M; Makitie H; Kroger H; Sanna T; Dunkel L
• Article: BIOTECHNOLOGY JOURNAL. 2007;2(6):709-716

  High-throughput protein purification under denaturating conditions by the use of cation exchange chromatography.

  Alm T; Steen J; Ottosson J; Hober S
• Article: NEW ENGLAND JOURNAL OF MEDICINE. 2007;356(20):2053-2063

  Glucose regulation in young adults with very low birth weight

  Hovi P; Andersson S; Eriksson JG; Jarvenpaa A-L; Strang-Karlsson S; Makitie O; Kajantie E
• Article: TRANSPLANTATION. 2007;83(9):1259-1267

  Anti-LFA-1 improves pig islet xenograft function in diabetic mice when long-term acceptance is induced by CTLA41g/anti-CD40L

  Kumagai-Braesch M; Ekberg H; Wang F; Osterholm C; Ehrnfelt C; Sharma A; Lindeborg E; Holgersson J; Corbascio M
• Article: HUMAN MOLECULAR GENETICS. 2007;16(10):1201-1215

  COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid

  Ho MSP; Tsang KY; Lo RLK; Susic M; Makitie O; Chan TWY; Ng VCW; Sillence DO; Boot-Handford RP; Gibson G; Cheung KMC; Cole WG; Cheah KSE; Chan D
• Doctoral thesis: 2007

  Molecular determinants of glioma subsets with distinct histology or sensitivity to signal transduction inhibitors

  Hägerstrand D
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2007;50(3):237-241

  Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida

  Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjold M; Anneren G
• Review: GENES CHROMOSOMES & CANCER. 2007;46(5):440-450

  Cytogenetic patterns in ETV6/RUNXI-positive pediatric B-cell precursor acute lymphoblastic leukemia:: A Nordic series of 245 cases and review of the literature

  Forestier E; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2007;144B(3):351-354

  Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)

  Zhou X-L; Giacobini M; Anderlid B-M; Anckarsater H; Omrani D; Gillberg C; Nordenskjold M; Lindblom A
• Article: BONE. 2007;40(4):1006-1012

  The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men

  Saarinen A; Valimaki V-V; Valimaki MJ; Loyttyniemi E; Auro K; Uusen P; Kuris M; Lehesjoki A-E; Makitie O
• Article: BLOOD. 2007;109(7):2989-2998

  Comprehensive characterization of IGHV3-21-expressing B-cell chronic lymphocytic leukemia: an Italian multicenter study

  Bomben R; Dal Bo M; Capello D; Benedetti D; Marconi D; Zucchetto A; Forconi F; Maffei R; Ghia EM; Laurenti L; Bulian P; Del Principe MI; Palermo G; Thorselius M; Degan M; Campanini R; Guarini A; Del Poeta G; Rosenquist R; Efremov DG; Marasca R; Foa R; Gaidano G; Gattei V
• Editorial: NATURE GENETICS. 2007;39(4):433-436

  Recommendations of the 2006 Human Variome Project meeting

  Cotton RGH
• Article: JOURNAL OF RHEUMATOLOGY. 2007;34(4):831-836

  Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis

  Valta H; Lahdenne P; Jalanko H; Aalto K; Makitie O
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2007;78(4):283-289

  Telomere length and correlation with histopathogenesis in B-cell leukemias/lymphomas

  Walsh SH; Grabowski P; Berglund M; Thunberg U; Thorselius M; Tobin G; Aleskog A; Karlsson K; Sundstrom C; Laurell A; Enblad G; Rosenquist R; Roos G
• Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2007;5(1):17-24

  A hypothesis-generating search for new genetic breast cancer syndromes -: a national study in 803 Swedish families

  von Wachenfeldt A; Lindblom A; Gronberg H; Einbeigi Z; Rosenquist R; Gardman C; Iselius L
• Article: NEUROMUSCULAR DISORDERS. 2007;17(3):231-234

  Skeletal dysplasia presenting as a neuromuscular disorder -: report of three children

  Bondestam J; Pihko H; Vanhanen S-L; Brander A; Toiviainen-Salo S; Marttinen E; Maekitie G
• Corrigendum: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2007;65(3):310

  Decreased expression of VEGF-A in rat experimental autoimmune encephalomyelitis and in cerebrospinal fluid mononuclear cells from patients with multiple sclerosis (vol 64, pg 609, 2006)

  Tham E; Gielen AW; Khademi M; Martin C; Piehl F
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2007;99(4):291-299

  Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics

  Robinson KL; Liu T; Vandrovcova J; Halvarsson B; Clendenning M; Frebourg T; Papadopoulos N; Kinzler KW; Vogelstein B; Peltomaki P; Kolodner RD; Nilbert M; Lindblom A
• Article: CANCER GENETICS. 2007;173(1):75-80

  Cytogenetic findings in pediatric renal cell carcinoma.

  Soller MJ; Kullendorff C-M; Békássy AN; Alumets J; Mertens F
• Article: BMC GENOMICS. 2007;8:1-16

  Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

  Hansson CM; Buckley PG; Grigelioniene G; Piotrowski A; Hellstrom AR; Mantripragada K; Jarbo C; Mathiesen T; Dumanski JP
• Article: ACTA ONCOLOGICA. 2007;46(6):770-772

  Mutation analysis of the DBC2 gene in sporadic and familial breast cancer

  Ohadi M; Totonchi M; Maguire P; Lindblom A; Habibi R; Alavi BA; Keyhani E; Najmabadi H
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2007;11(2):183-186

  Discrepancies between estimated and perceived risk of cancer among individuals with hereditary nonpolyposis colorectal cancer

  Domanska K; Nilbert M; Soller M; Silfverberg B; Carlsson C
• Article: MODERN PATHOLOGY. 2007;20(1):63-75

  Genomic imbalances during transformation from follicular lymphoma to diffuse large B-cell lymphoma

  Berglund M; Enblad G; Thunberg U; Amini R-M; Sundstrom C; Roos G; Erlanson M; Rosenquist R; Larsson C; Lagercrantz S
• Editorial: LEUKEMIA. 2007;21(1):1-3

  ERIC recommendations on IGHV gene mutational status analysis in chronic lymphocytic leukemia

  Ghia P; Stamatopoulos K; Belessi C; Moreno C; Stilgenbauer S; Stevenson F; Davi F; Rosenquist R
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2007;67(3):117-122

  Parathyroid gland dysfunction in 22q11.2 deletion syndrome

  Al-Jenaidi F; Makitie O; Grunebaum E; Sochett E
• Article: BLOOD. 2007;109(1):259-270

  Over 20% of patients with chronic lymphocytic leukemia carry stereotyped receptors: Pathogenetic implications and clinical correlations.

  Stamatopoulos K; Belessi C; Moreno C; Boudjograh M; Guida G; Smilevska T; Belhoul L; Stella S; Stavroyianni N; Crespo M; Hadzidimitriou A; Sutton L; Bosch F; Laoutaris N; Anagnostopoulos A; Montserrat E; Fassas A; Dighiero G; Caligaris-Cappio F; Merle-Béral H; Ghia P; Davi F
• Article: ARCHIVES OF BIOLOGICAL SCIENCES. 2007;59(1):23-27

  Hematopoietic stem cell transplantation monitoring in childhood. Hematological diseases in Serbia: STR-PCR techniques

  Krstic AD; Stojkovic O; Guc-Scekic M; Vujic D; Jevtic D; Varljen T
• Conference publication: ANNALS OF ONCOLOGY. 2007;18:45

  Analyses of roles of gene expression and PTEN-PI3K-AKT pathway in determination of sensitivity to the IGF-1 receptor inhibitor NVP-AEW541 in high grade glioma cell cultures

  Hagerstrand D; Bradic M; Garcia-Echeverria C; Nister M; Hofmann F; Ostman A
• Article: FAMILIAL CANCER. 2006;5(4):309-321

  Family history, and impact on clinical presentation and prognosis, in a population-based breast cancer cohort from the Stockholm County

  Margolin S; Johansson H; Rutqvist LE; Lindblom A; Fornander T
• Article: FAMILIAL CANCER. 2006;5(4):353-358

  The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer

  Halvarsson B; Lindblom A; Rambech E; Lagerstedt K; Nilbert M
• Article: ARTHRITIS & RHEUMATOLOGY. 2006;54(12):3774-3781

  Characteristics of diffuse large B cell lymphomas in rheumatoid arthritis

  Baecklund E; Backlin C; Iliadou A; Granath F; Ekbom A; Amini R-M; Feltelius N; Enblad G; Sundstrom C; Klareskog L; Askling J; Rosenquist R
• Article: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2006;64(6):609-622

  Decreased expression of VEGF-A in rat experimental autoimmune encephalomyelitis and in cerebrospinal fluid mononuclear cells from patients with multiple sclerosis

  Tham E; Gielen AW; Khademi M; Martin C; Piehl F
• Meeting abstract: BLOOD. 2006;108(11):621

  The EuroChimerism concept for a standardized approach to chimerism analysis following allogeneic stem cell transplantation.

  Lion T; Tilanus M; Cave H; Lawler M; Serra A; Biondi A; van Dongen J; Gonzalez M; Barbany G; Roosnek E; Steward C; Bader P
• Letter: BLOOD. 2006;108(10):3623-3624

  Subtype preference of the BCL6_397G/C polymorphism in germinal-center and non-germinal-center subtypes of diffuse large B-cell lymphoma

  Berglund M; Amini R-M; Book M; Rosenquist R; Roos G; Thunberg U
• Article: ANTICANCER RESEARCH. 2006;26(6C):4885-4888

  The CHEK2 1100delC variant in Swedish colorectal cancer

  Djureinovic T; Lindblom A; Dalen J; Dedorson S; Edler D; Hjern F; Holm J; Lenander C; Lindforss U; Lundqvist N; Olivecrona H; Olsson L; Pahlman L; Rutegard J; Smedh K; Tornqvist A; Eiberg H; Bisgaard ML
• Article: CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION. 2006;15(11):2270-2273

  Somatic BRAF-V600E mutations in familial colorectal cancer

  Vandrovcova J; Lagerstedt-Robinsson K; Pahlman L; Lindblom A
• Article: JOURNAL OF MOLECULAR EVOLUTION. 2006;63(5):682-690

  Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution.

  Wetterbom A; Sevov M; Cavelier L; Bergström TF
• Corrigendum: HUMAN MUTATION. 2006;27(11):1155

  Long-range PCR facilitates the identification of PMS2-specific mutations (vol 27, pg 490, 2006)

  Clendenning M; Hampel H; LaJeunesse J; Lindblom A; Lockman J; Nilbert M; Senter L; Sotamaa K; de la Chapelle A
• Article: BMC GENOMICS. 2006;7:280

  Comprehensive analysis of gene expression patterns of hedgehog-related genes

  Hao L; Johnsen R; Lauter G; Baillie D; Burglin TR
• Doctoral thesis: 2006

  From gene mutation to gene expression : studies on multiple endocrine neoplasia type 1 and vascular endothelial growth factors

  Tham E
• Article: NEUROLOGY. 2006;67(8):1437-1443

  Cerebroretinal microangiopathy with calcifications and cysts

  Linnankivi T; Valanne L; Paetau A; Alafuzoff I; Hakumaki JM; Kivela T; Lonnqvist T; Makitre O; Paakkonen L; Vainionpaa L; Vanninen R; Herva R; Pihko H
• Article: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2006;120(6):383-390

  Quantification of mtDNA mixtures in forensic evidence material using pyrosequencing

  Andreasson H; Nilsson M; Budowle B; Frisk S; Allen M
• Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;348(3):1047-1054

  Resveratrol regulates the expression of LXR-alpha in human macrophages.

  Sevov M; Elfineh L; Cavelier LB
• Meeting abstract: EUROPEAN UROLOGY OPEN SCIENCE. 2006;5(14):789

  High frequency of the TMPRSS2/ERG fusion gene in prostate cancer

  Soller W; Soller JM; Isaksson M; Elfving P; Abrahamsson PA; Lundgren R; Panagopoulos I
• Article: ONCOGENE. 2006;25(35):4913-4922

  Characterization of an imatinib-sensitive subset of high-grade human glioma cultures

  Hagerstrand D; Hesselager G; Achterberg S; Bolin UW; Kowanetz M; Kastemar M; Heldin C-H; Isaksson A; Nister M; Ostman A
• Review: CRITICAL REVIEWS IN ONCOGENESIS. 2006;12(1-2):75-113

  Familial breast cancer, underlying genes, and clinical implications: a review.

  Margolin S; Lindblom A
• Article: ANTICANCER RESEARCH. 2006;26(4B):3077-3081

  The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: A case-control study

  Skoglund J; Margolin S; Zhou X-L; Maguire P; Werelius B; Lindblom A
• Article: ANTI-CANCER DRUGS. 2006;17(6):631-639

  Imatinib activity in vitro in tumor cells from patients with chronic myeloid leukemia in chronic phase and blast crisis

  Olsson-Stromberg U; Aleskog A; Bjornberg A; Hoglund M; Simonsson B; Bengtsson M; Barbany G; Larsson R; Lindhagen E
• Letter: GENES CHROMOSOMES & CANCER. 2006;45(7):717-719

  Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer.

  Soller MJ; Isaksson M; Elfving P; Soller W; Lundgren R; Panagopoulos I
• Article: JOURNAL OF BACTERIOLOGY. 2006;188(13):4812-4821

  Coregulation by phenylacetyl-coenzyme A-responsive PaaX integrates control of the upper and lower pathways for catabolism of styrene by Pseudomonas sp strain Y2

  del Peso-Santos T; Bartolome-Martin D; Fernandez C; Alonso S; Garcia JL; Diaz E; Shingler V; Perera J
• Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2006;281(26):18201-18207

  Regulation of Bruton tyrosine kinase by the peptidylprolyl isomerase Pin1

  Yu L; Mohamed AJ; Vargas L; Berglof A; Finn G; Lu KP; Smith CIE
• Article: HAEMATOLOGICA. 2006;91(6):781-787

  Immunoglobulin genes in multiple myeloma: expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases.

  Hadzidimitriou A; Stamatopoulos K; Belessi C; Lalayianni C; Stavroyianni N; Smilevska T; Hatzi K; Laoutaris N; Anagnostopoulos A; Kollia P; Fassas A
• Article: CLINICAL ENDOCRINOLOGY. 2006;64(5):489-494

  Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults

  Mäkitie O; Sochett EB; Bondestam S; Sipilä I; Perheentupa J
• Article: HUMAN MUTATION. 2006;27(5):490-495

  Long-range PCR facilitates the identification of PMS2-specific mutations

  Clendenning M; Hampel H; LaJeunesse J; Lindblom A; Lockman J; Nilbert M; Senter L; Sotamaa K; de la Chapelle A
• Letter: CLINICAL GENETICS. 2006;69(5):441-443

  Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities

  Gustavsson P; Schoumans J; Staaf J; Jönsson G; Carlsson F; Kristoffersson U; Borg A; Nordenskjöld M; Dahl N
• Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2006;596(1-2):57-63

  A low dose of ethidium bromide leads to an increase of total mitochondrial DNA while higher concentrations induce the mtDNA 4997 deletion in a human neuronal cell line.

  von Wurmb-Schwark N; Cavelier L; Cortopassi GA
• Article: BLOOD. 2006;107(7):2889-2894

  Strikingly homologous immunoglobulin gene rearrangements and poor outcome inV_H3-21-using chronic lymphocytic leukemia patients independent of geographic origin and mutational status

  Thorsélius M; Kröber A; Murray F; Thunberg U; Tobin G; Bühler A; Kienle D; Albesiano E; Maffei R; Dao-Ung LP; Wiley J; Vilpo J; Laurell A; Merup M; Roos G; Karlsson K; Chiorazzi N; Marasca R; Döhner H; Stilgenbauer S; Rosenquist R
• Conference publication: CANCER RESEARCH. 2006;66(8)

  BRAF mutations suggest a new familial colorectal cancer syndrome

  Vandrovcova J; Lagerstedt-Robinsson K; Lindblom A
• Conference publication: CANCER RESEARCH. 2006;66(8)

  Investigation of the TGFBR1 gene and its role as a colorectal cancer and adenoma susceptibility gene

  Skoglund J; Vandrovcova J; Zhou X-L; Zelada-Hedman M; Werelius B; Lindblom A
• Article: PROTEIN EXPRESSION AND PURIFICATION. 2006;46(2):173-178

  High-throughput protein purification using an automated set-up for high-yield affinity chromatography.

  Steen J; Uhlén M; Hober S; Ottosson J
• Article: BMC CANCER. 2006;6:69

  Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy -: art. no. 69

  Engleson J; Soller M; Panagopoulos I; Dahlén A; Dictor M; Jerkeman M
• Article: GUT. 2006;55(3):362-366

  A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer

  Djureinovic T; Skoglund J; Vandrovcova J; Zhou XL; Kalushkova A; Iselius L; Lindblom A
• Review: HEMATOLOGICAL ONCOLOGY. 2006;24(1):7-13

  What is the current evidence for antigen involvement in the development of chronic lymphocytic leukemia?

  Tobin G; Rosén A; Rosenquist R
• Article: ENDOSCOPY. 2006;38(3):266-270

  Hyperplastic polyposis coli syndrome and colorectal carcinoma

  Rubio CA; Stemme S; Jaramillo E; Lindblom A
• Article: ARTHRITIS & RHEUMATOLOGY. 2006;54(3):692-701

  Association of chronic inflammation, not its treatment, with increased lymphoma risk in rheumatoid arthritis

  Baecklund E; Iliadou A; Askling J; Ekborn A; Backlin C; Granath F; Catrina AT; Rosenquist R; Feltelius N; Sundström C; Klareskog L
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2006;21(3):380-387

  Incidence and predictors of fractures in children after solid organ transplantation: A 5-year prospective, population-based study

  Helenius I; Remes V; Salminen S; Valta H; Mäkitie O; Holmberg C; Palmu P; Tervahartiala P; Sarna S; Helenius M; Peltonen J; Jalanko H
• Article: JOURNAL OF MEDICAL GENETICS. 2006;43(2):e7-e07

  Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1

  Skoglund J; Djureinovic T; Zhou XL; Vandrovcova J; Renkonen E; Iselius L; Bisgaard ML; Peltomäki P; Lindblom A
• Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2006;6(2):324-330

  Scoliosis after solid organ transplantation in children and adolescents

  Helenius I; Jalanko H; Remes V; Sairanen H; Salminen S; Holmberg C; Palmu P; Tervahartiala P; Valta H; Sarna S; Helenius M; Mäkitie O; Peltonen J
• Article: LEUKEMIA RESEARCH. 2006;30(2):183-189

  Transferrin receptor-1 and 2 expression in chronic lymphocytic leukemia.

  Smilevska T; Stamatopoulos K; Samara M; Belessi C; Tsompanakou A; Paterakis G; Stavroyianni N; Athanasiadou I; Chiotoglou I; Hadzidimitriou A; Athanasiadou A; Douka V; Saloum R; Laoutaris N; Anagnostopoulos A; Fassas A; Stathakis N; Kollia P
• Article: LEUKEMIA. 2006;20(1):77-81

  The G(-248)A polymorphism in the promoter region of the Bax gene does not correlate with prognostic markers or overall survival in chronic lymphocytic leukemia

  Skogsberg Å; Tobin G; Kröber A; Kienle D; Thunberg U; Åleskog A; Karlsson K; Laurell A; Merup M; Vilpo J; Sundström C; Roos G; Jernerg-Wiklund H; Döhner H; Nilsson K; Stilgenbauer S; Rosenquist R
• Article: ENDOSCOPY. 2005;37(12):1198-1204

  Virtual reality colonoscopy simulation: A compulsory practice for the future colonoscopist?

  Ahlberg G; Hultcrantz R; Jaramillo E; Lindblom A; Arvidsson D
• Article: HUMAN MUTATION. 2005;26(6):557-565

  Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

  Cotterill SL; Jackson GC; Leighton MR; Wagener R; Mäkitie O; Cole WG; Briggs MD
• Article: MOLECULAR & CELLULAR PROTEOMICS. 2005;4(12):1920-1932

  A human protein atlas for normal and cancer tissues based on antibody proteomics

  Uhlén M; Björling E; Agaton C; Szigyarto CA; Amini B; Andersen E; Andersson AC; Angelidou P; Asplund A; Asplund C; Berglund L; Bergström K; Brumer H; Cerjan D; Ekström M; Elobeid A; Eriksson C; Fagerberg L; Falk R; Fall J; Forsberg M; Björklund MG; Gumbel K; Halimi A; Hallin I; Hamsten C; Hansson M; Hedhammar M; Hercules G; Kampf C; Larsson K; Linskog M; Lodewyckx W; Lund J; Lundeberg J; Magnusson K; Malm E; Nilsson P; Ödling J; Oksvold P; Olsson I; Öster E; Ottosson J; Paavilainen L; Persson A; Rimini R; Rockberg J; Runeson M; Sivertsson Å; Sköllermo A; Steen J; Stenvall M; Sterky F; Strömberg S; Sundberg M; Tegel H; Tourle S; Wahlund E; Waldén A; Wan JH; Wernérus H; Westberg J; Wester K; Wrethagen U; Xu LL; Hober S; Pontén F
• Article: TRANSPLANT IMMUNOLOGY. 2005;15(2):165-172

  Differential expression of tissue factor (TF) in calcineurin inhibitor-induced nephrotoxicity and rejection-implications for development of a possible diagnostic marker

  Österholm C; Veress B; Simanaitis M; Hedner U; Ekberg H
• Meeting abstract: BLOOD. 2005;106(11):4490

  Impact of RNA stabilization on minimal residual disease assessment in chronic myeloid leukemia.

  Thörn I; Olsson-Strömberg U; Ohlsen C; Jonsson AM; Klangby U; Bengt S; Barbany G
• Article: BLOOD. 2005;106(10):3575-3583

  Immunoglobulin light chain repertoire in chronic lymphocytic leukemia.

  Stamatopoulos K; Belessi C; Hadzidimitriou A; Smilevska T; Kalagiakou E; Hatzi K; Stavroyianni N; Athanasiadou A; Tsompanakou A; Papadaki T; Kokkini G; Paterakis G; Saloum R; Laoutaris N; Anagnostopoulos A; Fassas A
• Article: PROTEOMICS. 2005;5(17):4327-4337

  Towards a human proteome atlas: High-throughput generation of mono-specific antibodies for tissue profiling

  Nilsson P; Paavilainen L; Larsson K; Ödling J; Sundberg M; Andersson AC; Kampf C; Persson A; Szigyarto CAK; Ottosson J; Björling E; Hober S; Wernérus H; Wester K; Pontén F; Uhlen M
• Article: HAEMATOLOGICA. 2005;90(11):1471-1476

  The impact of RNA stabilization on minimal residual disease assessment in chronic myeloid leukemia

  Thorn I; Olsson-Stromberg U; Ohlsen C; Jonsson A-M; Klangby U; Simonsson B; Barbany G
• Article: BREAST CANCER RESEARCH AND TREATMENT. 2005;94(2):145-152

  Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer

  Maguire P; Margolin S; Skoglund J; Sun XF; Gustafsson J; Borresen-Dale AL; Lindblom A
• Article: JOURNAL OF MEDICAL GENETICS. 2005;42(11):877-880

  High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer

  Kristiansen M; Knudsen GPS; Maguire P; Margolin S; Pedersen J; Lindblom A; Orstavik KH
• Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(10):1166

  Mutations in the known genes are not the major cause of MED;: distinctive phenotypic entities among patients with no identified mutations (vol 13, pg 292, 2005)

  Jakkula E; Mäkitie O; Czarny-Ratajczak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
• Article: JOURNAL OF BIOTECHNOLOGY. 2005;119(2):133-146

  A novel flow cytometry-based method for analysis of expression levels in Escherichia coli, giving information about precipitated and soluble protein

  Hedhammar M; Stenvall M; Lönneborg R; Nord O; Sjölin O; Brismar H; Uhlén M; Ottosson J; Hober S
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;138A(1):35-40

  The natural history of severe anemia in cartilage-hair hypoplasia

  Williams MS; Ettinger RS; Hermanns P; Lee B; Carlsson G; Taskinen M; Mäkitie O
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;137A(3):241-248

  Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations - Findings in 10 patients

  Mäkitie O; Susic M; Ward L; Barclay C; Glorieux FH; Cole WG
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2005;20(9):S300

  Peak bone mass after childhood acute lymphoblastic leukemia (ALL): Findings in 37 adult males.

  Makitie O; Puutio JP; Jahnukainen K; Viertomies LR; Henriksson M; Vettenranta K; Siimes MA
• Article: HUMAN MUTATION. 2005;26(3):255-261

  The 5′ Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

  Charbonnier FC; Baert-Desurmont S; Liang P; Di Fiore F; Martin C; Frerot S; Olschwang S; Wang Q; Buisine MP; Gilbert B; Nilbert M; Lindblom A; Frebourg T
• Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2005;1752(1):6-10

  High-throughput solubility assay for purified recombinant protein immunogens.

  Stenvall M; Steen J; Uhlén M; Hober S; Ottosson J
• Article: MODERN PATHOLOGY. 2005;18(8):1113-1120

  Evaluation of immunophenotype in diffuse large B-cell lymphoma and its impact on prognosis

  Berglund M; Thunberg U; Amini RM; Book M; Roos G; Erlanson M; Linderoth J; Dictor M; Jerkeman M; Cavallin-Ståhl E; Sundström C; Rehn-Eriksson S; Backlin C; Hagberg H; Rosenquist R; Enblad G
• Article: LEUKEMIA. 2005;19(8):1452-1458

  Insights into the multistep transformation process of lymphomas:: IgH-associated translocations and tumor suppressor gene mutations in clonally related composite Hodgkin's and non-Hodgkin's lymphomas

  Schmitz R; Renné C; Rosenquist R; Tinguely M; Distler V; Menestrina F; Lestani M; Stankovic T; Austen B; Bräuninger A; Hansmann ML; Küppers R
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(8):970-977

  Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

  Mansouri MR; Marklund L; Gustavsson P; Davey E; Carlsson B; Larsson C; White I; Gustavson KH; Dahl N
• Article: MODERN PATHOLOGY. 2005;18(8):1095-1101

  Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

  Halvarsson B; Lindblom A; Johansson L; Lagerstedt K; Nilbert M
• Article: BLOOD. 2005;106(2):681-689

  Distinctive gene expression pattern in V_H3-21 utilizing B-cell chronic lymphocytic leukemia

  Fält S; Merup M; Tobin G; Thunberg U; Gahrton G; Rosenquist R; Wennborg A
• Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(3):290-300

  Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to ∼650 kb

  Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg Å; Nordenskjöld M; Anderlid BM
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2005;75(1):34-40

  Mitogen induced activation, proliferation and surface antigen expression patterns in unmutated and hypermutated chronic lymphocytic leukemia cells

  Vilpo J; Tobin G; Hulkkonen J; Hurme M; Thunberg U; Sundström C; Vilpo L; Rosenquist R
• Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2005;16(1):135-141

  CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12

  Maguire P; Holmberg K; Kost-Alimova M; Imreh S; Skoog L; Lindblom A
• Article: ANTI-CANCER DRUGS. 2005;16(6):631-634

  In vitro activity of imatinib in cells from patients with adult acute lymphoblastic leukemia

  Hallböök H; Barbany G; Åleskog A; Björnberg A; Larsson R; Sundström C; Lindhagen E
• Article: LEUKEMIA RESEARCH. 2005;29(7):729-734

  Lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia derives from an extensively hypermutated B cell that lacks ongoing somatic hypermutation

  Walsh SH; Laurell A; Sundström G; Roos L; Sundström C; Rosenquist R
• Article: BLOOD. 2005;105(12):4807-4812

  Telomere length as a prognostic parameter in chronic lymphocytic leukemia with special reference to V_H gene mutation status

  Grabowski P; Hultdin M; Karlsson K; Tobin G; Åleskog A; Thunberg U; Laurell A; Sundström C; Rosenquist R; Roos G
• Letter: BLOOD. 2005;105(12):4894-4895

  The interleukin-10 gene promoter polymorphism (-1082) does not correlate with clinical outcome in diffuse large B-cell lymphoma

  Berglund M; Thunberg U; Roos G; Rosenquist R; Enblad G
• Article: JOURNAL OF CLINICAL INVESTIGATION. 2005;115(5):1250-1257

  A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

  Gensure RC; Mäkitie O; Barclay C; Chan C; DePalma SR; Bastepe M; Abuzahra H; Couper R; Mundlos S; Sillence D; Kokko LA; Seidman JG; Cole WG; Jüppner H
• Article: INTERNATIONAL JOURNAL OF CANCER. 2005;114(5):713-719

  Antimicrobial protein hCAP18/LL-37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells

  Heilborn JD; Nilsson MF; Jimenez CIC; Sandstedt B; Borregaard N; Tham E; Sorensen OE; Weber G; Ståhle M
• Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2005;20(5):783-789

  Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children

  Hartikka H; Mäkitie O; Männikkö M; Doria AS; Daneman A; Cole WG; Ala-Kokko L; Sochett EB
• Letter: LEUKEMIA. 2005;19(5):871-873

  Mcl-1 gene promoter insertions do not correlate with disease outcome, stage or V_H gene mutation status in chronic lymphocytic leukaemia

  Tobin G; Skogsberg Å; Thunberg U; Laurell A; Åleskog A; Merup M; Sundström C; Roos G; Nilsson K; Rosenquist R
• Article: ACTA RADIOLOGICA. 2005;46(2):200-207

  Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis

  Laurencikas E; Söderman E; Grigelioniene G; Hagenäs L; Jorulf H
• Article: ACTA ANAESTHESIOLOGICA SCANDINAVICA. 2005;49(4):488-493

  Vascular endothelial growth factor gene expression in middle cerebral artery occlusion in the rat

  Lennmyr F; Terént A; Syvänen AC; Barbany G
• Article: HAEMATOLOGICA. 2005;90(4):465-469

  Patients with chronic lymphocytic leukemia with mutated V_H genes presenting with Binet stage B or C form a subgroup with a poor outcome

  Tobin G; Thunberg U; Laurell A; Karlsson K; Aleskog A; Willander K; Soderberg O; Merup M; Vilpo J; Hultdin M; Sundstrom C; Roos G; Rosenquist R
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(3):292-301

  Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

  Jakkula E; Mäkitie O; Czarny-Ratacjzak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
• Article: MODERN PATHOLOGY. 2005;18(3):331-339

  Mantle cell lymphomas with clonal immunoglobulin V_H3-21 gene rearrangements exhibit fewer genomic imbalances than mantle cell lymphomas utilizing other immunoglobulin V_H genes

  Thelander EF; Walsh SH; Thorsélius M; Laurell A; Landgren O; Larsson C; Rosenquist R; Lagercrantz S
• Article: JOURNAL OF PEDIATRICS. 2005;146(3):395-401

  Radiographic vertebral morphology:: A diagnostic tool in pediatric osteoporosis

  Mäkitie O; Doria AS; Henriques F; Cole WG; Compeyrot S; Silverman E; Laxer R; Daneman A; Sochett EB
• Letter: LEUKEMIA. 2005;19(3):464

  Absence of H2AX gene mutations in B-cell leukemias and lymphomas

  Walsh SH; Rosenquist R
• Review: IMMUNOLOGICAL REVIEWS. 2005;203:200-215

  Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling

  Lindvall JM; Blomberg KEM; Väliaho J; Vargas L; Heinonen JE; Berglöf A; Mohamed AJ; Nore BF; Vihinen M; Smith CIE
• Article: LEUKEMIA RESEARCH. 2005;29(2):153-158

  Heterogeneous somatic hypermutation status confounds the cell of origin in hairy cell leukemia

  Thorsélius M; Walsh SH; Thunberg U; Hagberg H; Sundström C; Rosenquist R
• Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2005;121(19):2059-2067

  [Acquired osteoporosis in childhood].

  Arikoski P; Kröger L; Mäkitie O
• Article: MOLECULAR MEDICINE. 2005;11(1-12):52-58

  Analysis of expressed and non-expressed IGK locus rearrangements in chronic lymphocytic leukemia.

  Belessi C; Stamatopoulos K; Hadzidimitriou A; Hatzi K; Smilevska T; Stavroyianni N; Marantidou F; Paterakis G; Fassas A; Anagnostopoulos A; Laoutaris N
• Review: MEDICAL ONCOLOGY. 2005;22(4):327-341

  Immunoglobulin gene analysis of mature B-cell malignancies

  Walsh SH; Rosenquist R
• Review: MEDICAL ONCOLOGY. 2005;22(3):217-228

  Prognostic usage of V_H gene mutation status and its surrogate markers and the role of antigen selection in chronic lymphocytic leukemia

  Tobin G; Rosenquist R
• Conference publication: ANNALS OF ONCOLOGY. 2005;16:21

  PDGF receptors as cancer drug targets

  Ostman A; Pietras K; Hägerstrand D; Furuhashi M; Abe M; Robinson S; Wu Y; Hicklin DJ; Baranowska-Kortylewicz J; Nister M; Heldin CH; Rubin K
• Conference publication: ANNALS OF ONCOLOGY. 2005;16:43

  Characterization of the sensitivity of high grade glioma cultures to inhibitors of PDGF- and IGF1-receptors

  Bradic M; Hägerstrand D
• Article: ANNALS OF MEDICINE. 2005;37(4):286-294

  Osteoporosis in chronically ill children

  Sochett EB; Mäkitie O
• Editorial: ANNALS OF MEDICINE. 2005;37(4):276-277

  Osteoporosis: From molecular mechanisms to progress in treatment

  Mäkitie O; Heikinheimo MK
• Letter: FAMILIAL CANCER. 2005;4(2):191-194

  The BRCA1 exon 13 duplication in the Swedish population

  Kremeyer B; Soller M; Lagerstedt K; Maguire P; Mazoyer S; Nordling M; Wahlström J; Lindblom A
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2005;9(2):147-151

  Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer

  Zhou XL; Djureinovic T; Werelius B; Lindmark G; Sun XF; Lindblom A
• Article: LEUKEMIA & LYMPHOMA. 2004;45(12):2451-2454

  Similar humoral immunity parameters in chronic lymphocytic leukemia patients independent of V_H gene mutation status

  Sinisalo M; Aittoniemi J; Koski T; Tobin G; Thunberg U; Sundström C; Rosenquist R; Käyhty H; Vilpo J
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2004;73(6):407-411

  V_H gene mutation status and cellular drug resistance in chronic lymphocytic leukaemia

  Åleskog A; Tobin G; Laurell A; Thunberg U; Lindhagen E; Roos G; Nilsson K; Nygren P; Sundström C; Höglund M; Larsson R; Rosenquist R
• Article: BLOOD. 2004;104(9):2879-2885

  Subsets with restricted immunoglobulin gene rearrangement features indicate a role for antigen selection in the development of chronic lymphocytic leukemia

  Tobin G; Thunberg U; Karlsson K; Murray F; Laurell A; Willander K; Enblad G; Merup M; Vilpo J; Juliusson G; Sundström C; Söderberg O; Roos G; Rosenquist R
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2004;19:S326

  Impact of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) on bone health:: Findings in 25 adult patients.

  Mäkitie O; Sochett E; Bondestam S; Perheentupa J
• Article: HUMAN MOLECULAR GENETICS. 2004;13(19):2303-2311

  Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

  Oliveira C; Westra JL; Arango D; Ollikainen M; Domingo E; Ferreira A; Velho S; Niessen R; Lagerstedt K; Alhopuro P; Laiho P; Veiga I; Teixeira MR; Ligtenberg M; Kleibeuker JH; Sijmons RH; Plukker JT; Imai K; Lage P; Hamelin R; Albuquerque C; Schwartz SJ; Lindblom A; Peltomaki P; Yamamoto H; Aaltonen LA; Seruca R; Hofstra RMW
• Journal article: EUROPEAN JOURNAL OF CANCER, SUPPLEMENT. 2004;2(8):30

  89 Gene expression profiling of cancer associated fibroblasts

  Micke P; Sundquist C; Hägerstrand D; Scheidl S; Lindahl P; Pontén F; Heldin CH; Ostman A
• Journal article: EUROPEAN JOURNAL OF CANCER, SUPPLEMENT. 2004;2(8):109

  363 Targeting of PDGF receptors; combination effects in various solid tumors and identification of a PDGF dependent brain tumor subset

  Östman A; Hägerstrand D; Pietras K; Furuhashi M; Wu Y; Hicklin DJ; Buchdunger E; Abe M; Nister M; Baranowska-Kortylewicz J; Heldin C-H
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2004;73(3):210-214

  Clonally related splenic marginal zone lymphoma and Hodgkin lymphoma with unmutated V gene rearrangements and a 15-yr time gap between diagnoses

  Rosenquist R; Roos G; Erlanson M; Küppers R; Bräuninger A; Hansmann ML
• Article: JOURNAL OF MEDICAL GENETICS. 2004;41(9):664-668

  BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

  Domingo E; Laiho P; Ollikainen M; Pinto M; Wang L; French AJ; Westra J; Frebourg T; Espín E; Armengol M; Hamelin R; Yamamoto H; Hofstra RMW; Seruca R; Lindblom A; Peltomäki P; Thibodeau SN; Aaltonen LA; Schwartz SJ
• Article: CANCER GENETICS. 2004;153(1):69-72

  Different gene expression in immunoglobulin-mutated and immunoglobulin-unmutated forms of chronic lymphocytic leukemia

  Ferrer A; Ollila J; Tobin G; Nagy B; Thunberg U; Aalto Y; Vihinen M; Vilpo J; Rosenquist R; Knuutila S
• Article: CANCER GENETICS. 2004;153(1):1-9

  Dissecting karyotypic patterns in renal cell carcinoma:: an analysis of the accumulated cytogenetic data

  Höglund M; Gisselsson D; Soller M; Hansen GB; Elfving P; Mitelman F
• Conference publication: JOURNAL OF CLINICAL ONCOLOGY. 2004;22(14):98S

  Prevalence of adenomas and hyperplastic polyps in carriers of HNPCC (LYNCH Syndrome).

  Liljegren A; Barker G; Mathers J; Lindblom A; Nilsson B; Rotstein S; Burn J; Bishop T
• Journal article: JOURNAL OF CLINICAL ONCOLOGY. 2004;22(14_suppl):1007

  Prevalence of adenomas and hyperplastic polyps in carriers of HNPCC (LYNCH Syndrome)

  Liljegren A; Barker G; Mathers J; Lindblom A; Nilsson B; Rotstein S; Burn J; Bishop T
• Journal article: JOURNAL OF CLINICAL ONCOLOGY. 2004;22(14_suppl):1007

  Prevalence of adenomas and hyperplastic polyps in carriers of HNPCC (LYNCH Syndrome)

  Liljegren A; Barker G; Mathers J; Lindblom A; Nilsson B; Rotstein S; Burn J; Bishop T
• Article: JOURNAL OF ORTHOPAEDIC RESEARCH. 2004;22(4):759-767

  Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate

  Hecht JT; Makitie O; Hayes E; Haynes R; Susic M; Montufar-Solis D; Duke PJ; Cole WG
• Article: GENES CHROMOSOMES & CANCER. 2004;40(3):172-178

  A model for karyotypic evolution in testicular germ cell tumors

  Frigyesi A; Gisselsson D; Hansen GB; Soller M; Mitelman F; Höglund M
• Article: INTERNATIONAL JOURNAL OF CANCER. 2004;110(4):550-557

  Definition of candidate low risk APC alleles in a Swedish population

  Zhou XL; Eriksson U; Werelius B; Kressner U; Sun XF; Lindblom A
• Journal article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2004;8(2):127-132

  BRCA1 Mutations in a Population-based Study of Breast Cancer in Stockholm County

  Margolin S; Werelius B; Fornander T; Lindblom A
• Review: EXPERT REVIEW OF ANTICANCER THERAPY. 2004;4(3):377-385

  Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy.

  Lindblom A; Zhou X-L; Liu T; Liljegren A; Skoglund J; Djureinovic T; Swedish Low-Risk Colorectal Cancer Group
• Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2004;125(6):815-817

  Association of the 1513C polymorphism in the P2X7 gene with familial forms of chronic lymphocytic leukaemia

  Dao-Ung LP; Fuller SJ; Sluyter R; SkarRatt KK; Thunberg U; Tobin G; Byth K; Ban M; Rosenquist R; Stewart GJ; Wiley JS
• Review: ASIAN JOURNAL OF ANDROLOGY. 2004;6(2):149-153

  Molecular identity, expression and functional analysis of interleukin-1α and its isoforms in rat testis

  Sultana T; Svechnikov KV; Gustafsson K; Wahlgren A; Tham E; Weber G; Söder O
• Article: ANTICANCER RESEARCH. 2004;24(3A):1765-1768

  Histological changes pertinent to local tumor progression in hereditary nonpolyposis colorectal cancer (HNPCC). A preliminary report

  Rubio CA; Lindblom A
• Published conference paper: JOURNAL OF CLINICAL ONCOLOGY. 2004;22(9):1736-1742

  Individuals with an increased risk of colorectal cancer: Perceived benefits and psychological aspects of surveillance by means of regular coloscopies

  Liljegren A; Lindgren G; Brandberg Y; Rotstein S; Nilsson B; Hatschek T; Jaramillo E; Lindblom A
• Review: CURRENT OPINION IN RHEUMATOLOGY. 2004;16(3):254-261

  Rheumatoid arthritis and malignant lymphomas

  Baecklund E; Askling J; Rosenquist R; Ekbom A; Klareskog L
• Letter: LEUKEMIA. 2004;18(4):884-886

  Differential stability of control gene and fusion gene transcripts over time may hamper accurate quantification of minimal residual disease - a study within the Europe Against Cancer Program

  van der Velden VHJ; Boeckx N; Gonzalez M; Malec M; Barbany G; Lion T; Gottardi E; Pallisgaard N; Beillard E; Hop WCJ; Hoogeveen PG; Gabert J; van Dongen JJM
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2004;125A(3):278-284

  Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations:: Description of 12 patients

  Mäkitie O; Mortier GR; Czarny-Ratajczak M; Wright MJ; Suri M; Rogala P; Freund M; Jackson GC; Jakkula E; Ala-Kokko L; Briggs MD; Cole WG
• Editorial: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2004;96(4):261-268

  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

  Umar A; Boland CR; Terdiman JP; Syngal S; de la Chapelle A; Rüschoff J; Fishel R; Lindor NM; Burgart LJ; Hamelin R; Hamilton SR; Hiatt RA; Jass J; Lindblom A; Lynch HT; Peltomaki P; Ramsey SD; Rodriguez-Bigas MA; Vasen HFA; Hawk ET; Barrett JC; Freedman AN; Srivastava S
• Article: LEUKEMIA & LYMPHOMA. 2004;45(2):221-228

  V_H3-21 gene usage in chronic lymphocytic leukemia - Characterization of a new subgroup with distinct molecular features and poor survival

  Tobin G; Söderberg O; Thunberg U; Rosenquist R
• Article: CLINICAL GENETICS. 2004;65(2):101-112

  Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS

  Mäkitie O; Ellis L; Durie PR; Morrison JA; Sochett EB; Rommens JM; Cole WG
• Article: EUROPEAN JOURNAL OF CANCER. 2004;40(3):365-374

  Preoperative psychological reactions and quality of life among women with an increased risk of breast cancer who are considering a prophylactic mastectomy

  Brandberg Y; Arver B; Lindblom A; Sandelin K; Wickman M; Hall P
• Editorial: LEUKEMIA. 2004;18(2):255-266

  Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

  Fredriksson M; Barbany G; Liljedahl U; Hermanson M; Kataja M; Syvänen AC
• Article: VIRCHOWS ARCHIV. 2004;444(2):135-141

  Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

  Halvarsson B; Lindblom A; Rambech E; Lagerstedt K; Nilbert M
• Article: SARCOMA. 2004;8(4):123-127

  Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas.

  Ericson K; Engellau J; Persson A; Lindblom A; Domanski H; Akerman M; Nilbert M
• Book chapter: THE SKELETON. 2004;p. 349-359

  Genetics of Achondroplasia and Hypochondroplasia

  Grigelioniene G
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2004;8(2):127-132

  BRCA1 mutations in a population-based study of breast cancer in Stockholyn County

  Margolin S; Werelius B; Fornander T; Lindblom A
• Article: HORMONE RESEARCH IN PAEDIATRICS. 2004;61(5):252-256

  Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets.

  Sochett E; Doria AS; Henriques F; Kooh SW; Daneman A; Mäkitie O
• Review: BREAST CANCER RESEARCH. 2004;6(3):R187-R190

  A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer

  Zhou XL; Werelius B; Lindblom A
• Article: DISEASE MARKERS. 2004;20(4-5):259-267

  MSI test to distinguish between HNPCC and other predisposing syndromes - of value in tailored surveillance

  Liljegren A; Olsson L; Lindblom A
• Article: FAMILIAL CANCER. 2004;3(2):109-116

  Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up.

  Arver B; Haegermark A; Platten U; Lindblom A; Brandberg Y
• Article: JOURNAL OF MEDICAL GENETICS. 2004;41(1):52-59

  Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

  Jackson GC; Barker FS; Jakkula E; Czarny-Ratajczak M; Mäkitie O; Cole WG; Wright MJ; Smithson SF; Suri M; Rogala P; Mortier GR; Baldock C; Wallace A; Elles R; Ala-Kokko L; Briggs MD
• Article: JOURNAL OF MEDICAL GENETICS. 2004;41(1):18-20

  Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

  Di Fiore F; Charbonnier F; Martin C; Frerot S; Olschwang S; Wang Q; Boisson C; Buisine MP; Nilbert M; Lindblom A; Frebourg T
• Article: JOURNAL OF MEDICAL GENETICS. 2003;40(12):e133

  Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene -: art. no. e133

  Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G
• Review: LEUKEMIA. 2003;17(12):2318-2357

  Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - A Europe Against Cancer Program

  Gabert J; Beillard E; van der Velden VHJ; Bi W; Grimwade D; Pallisgaard N; Barbany G; Cazzaniga G; Cayuela JM; Cavé H; Pane F; Aerts JLE; De Micheli D; Thirion X; Pradel V; González M; Viehmann S; Malec M; Saglio G; van Dongen JJM
• Conference publication: AMERICAN JOURNAL OF HUMAN GENETICS. 2003;73(5):252

  Screening for genomic rearrangements of the mismatch repair genes must be included in the routine diagnosis of HNPCC.

  Di Fiore F; Charbonnier F; Martin C; Frerot S; Olschwang S; Wang Q; Boisson C; Buisine MP; Nilbert M; Lindblom A; Frebourg T
• Article: AMERICAN JOURNAL OF SURGICAL PATHOLOGY. 2003;27(11):1483-1488

  Analysis of a clonally related mantle cell and Hodgkin lymphoma indicates Epstein-Barr virus infection of a Hodgkin/Reed-Sternberg cell precursor in a germinal center

  Tinguely M; Rosenquist R; Sundström C; Amini RM; Küppers R; Hansmann ML; Bräuninger A
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2003;122A(3):187-192

  Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene:: Double-layer patella as a reliable sign

  Mäkitie O; Savarirayan R; Bonafé L; Robertson S; Susic M; Superti-Furga A; Cole WG
• Article: JOURNAL OF CLINICAL ONCOLOGY. 2003;21(19):3629-3637

  Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer

  Renkonen E; Zhang YG; Lohi H; Salovaara R; Abdel-Rahman WM; Nilbert M; Aittomäki K; Järvinen HJ; Mecklin JP; Lindblom A; Peltomäki P
• Article: JOURNAL OF MEDICAL GENETICS. 2003;40(10):741-746

  Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

  Ridanpää M; Ward LM; Rockas S; Särkioja M; Mäkelä H; Susic M; Glorieux FH; Cole WG; Mäkitie O
• Review: HEMATOLOGY. 2003;8(5):319-328

  Somatic hypermutation patterns in germinal center B cell malignancies.

  Stamatopoulos K; Belessi C; Papadaki T; Stavroyianni N; Hadzidimitriou A; Kosmas C; Laoutaris N; Fassas A; Anagnostopoulos A
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2003;18:S284

  Spinal changes are common in children assessed for secondary osteoporosis.

  Makitie O; Henriques F; Doria A; Compeyrot S; Cole WG; Gilday D; Laxer R; Silverman E; Daneman A; Sochett E
• Article: GENES CHROMOSOMES & CANCER. 2003;37(4):417-420

  More extensive genetic alterations in unmutated than in hypermutated cases of chronic lymphocytic leukemia

  Karhu R; Tobin G; Thunberg U; Vilpo L; Sundström C; Knuutila S; Rosenquist R; Vilpo J
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2003;88(8):3591-3597

  Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets

  Mäkitie O; Doria A; Kooh SW; Cole WG; Daneman A; Sochett E
• Article: GUT. 2003;52(8):1140-1147

  Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps

  Liljegren A; Lindblom A; Rotstein S; Nilsson B; Rubio C; Jaramillo E
• Article: BLOOD. 2003;101(12):4952-4957

  Chronic lymphocytic leukemias utilizing the V_H3-21 gene display highly restricted V_λ2-14 gene use and homologous CDR3s:: implicating recognition of a common antigen epitope

  Tobin G; Thunberg U; Johnson A; Eriksson I; Söderberg O; Karlsson K; Merup M; Juliusson G; Vilpo J; Enblad G; Sundström C; Roos G; Rosenquist R
• Letter: GASTROENTEROLOGY. 2003;124(7):2000

  Mechanism of diarrhea in collagenous colitis

  Rubio CA; Befrits R; Jaramillo E; Fisher H; Lindblom A
• Article: BLOOD. 2003;101(10):4047-4054

  Mutated V_H genes and preferential V_H3-21 use define new subsets of mantle cell lymphoma

  Walsh SH; Thorsélius M; Johnson A; Söderberg O; Jerkernan M; Björck E; Eriksson I; Thunberg U; Landgren O; Ehinger M; Löfvenberg E; Wallman K; Enblad G; Sander B; Porwit-MacDonald A; Dictor M; Olofsson T; Sundström C; Roos G; Rosenquist R
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2003;121(4):566-577

  Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001

  Forestier E; Heim S; Blennow E; Borgström G; Holmgren G; Heinonen K; Johannsson J; Kerndrup G; Andersen MK; Lundin C; Nordgren A; Rosenquist R; Swolin B; Johansson B
• Article: CANCER RESEARCH. 2003;63(9):2024-2027

  Lack of HIN-1 methylation in BRCAl-linked and "BRCA1-like" breast tumors

  Krop I; Maguire P; Lahti-Domenici J; Lodeiro G; Richardson A; Johannsdottir HK; Nevanlinna H; Borg A; Gelman R; Barkardottir RB; Lindblom A; Polyak K
• Article: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2003;44(5):1830-1836

  New locus for autosomal dominant high myopia maps to the long arm of chromosome 17

  Paluru P; Ronan SM; Heon E; Devoto M; Wildenberg SC; Scavello G; Holleschau A; Mäkitie O; Cole WG; King RA; Young TL
• Letter: LANCET. 2003;361(9367):1478-1479

  P2X7 polymorphism and chronic lymphocytic leukaemia -: Reply

  Thunberg U; Tobin G; Johnson A; Enblad G; Rosenquist R
• Article: CANCER RESEARCH. 2003;63(8):1894-1899

  The role of hMLH3 in familial colorectal cancer

  Liu HX; Zhou XL; Liu T; Werelius B; Lindmark G; Dahl N; Lindblom A
• Article: HUMAN MOLECULAR GENETICS. 2003;12(8):915-923

  A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility.

  Raffii S; Lindblom A; Reed M; Meuth M; Cox A
• Article: LEUKEMIA RESEARCH. 2003;27(4):337-341

  Ex vivo drug and irradiation sensitivities in hypermutated and unmutated forms of chronic lymphocytic leukemia cells

  Kivekäs I; Tobin G; Thunberg U; Vilpo L; Sundström C; Rosenquist R; Vilpo J
• Article: BRITISH JOURNAL OF CANCER. 2003;88(4):593-598

  Association between telomere length and V_H gene mutation status in chronic lymphocytic leukaemia:: clinical and biological implications

  Hultdin M; Rosenquist R; Thunberg U; Tobin G; Norrback KF; Johnson A; Sundström C; Roos G
• Article: CLINICAL ENDOCRINOLOGY. 2003;58(2):163-168

  Prolonged high-dose phosphate treatment:: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets

  Mäkitie O; Kooh SW; Sochett E
• Corrigendum: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2003;301(1):258

  Phosphorylation of Bruton's tyrosine kinase by c-Abl (vol 299, pg 510, 2002)

  Bäckesjö CM; Vargas L; Superti-Furga G; Smith CIE
• Editorial: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2003;119(17):1607-1608

  [Osteoporosis--a new challenge for pediatricians].

  Mäkitie O; Sochett E; Dunkel L
• Journal article: FAMILIAL CANCER. 2003;2(1):9-13

  The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.

  Stormorken AT; Müller W; Lindblom A; Heimdal K; Aase S; Lothe IMB; Norèn T; Wijnen JT; Möslein G; Møller P
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2003;116A(1):61-65

  Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

  Ross JL; Bellus G; Scott CI; Abboudi J; Grigelioniene G; Zinn AR
• Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2003;63(3):239-245

  Beta-globin mRNA increases rapidly during erythropoietin treatment

  Hagberg A; Barbany G; Landegren U; Birgegård G
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2003;70(1):53-59

  Surface antigen expression and correlation with variable heavy-chain gene mutation status in chronic lymphocytic leukemia

  Vilpo J; Tobin G; Hulkkonen J; Hurme M; Thunberg U; Sundström C; Vilpo L; Rosenquist R
• Article: CANCER GENETICS. 2003;140(1):82-87

  Cytogenetic findings and clinical course in a consecutive series of Wilms tumors

  Kullendorff CM; Soller M; Wiebe T; Mertens F
• Article: ACTA ONCOLOGICA. 2003;42(7):726-734

  Genetic counselling for cancer and risk perception

  Lidén A; Berglund G; Hansson MG; Rosenquist R; Sjödén PO; Nordin K
• Article: FAMILIAL CANCER. 2003;2(2):87-93

  Family history of colorectal cancer in a Sweden county.

  Olsson L; Lindblom A
• Article: LANCET. 2002;360(9349):1935-1939

  Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia

  Thunberg U; Tobin G; Johnson A; Söderberg O; Padyukov L; Hultdin M; Klareskog L; Enblad G; Sundström C; Roos G; Rosenquist R
• Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2002;299(3):510-515

  Phosphorylation of Bruton's tyrosine kinase by c-Abl

  Bäckesjö CM; Vargas L; Superti-Furga G; Smith CIE
• Doctoral thesis: 2002

  Subcellular localization and signalling of Brutons tyrosine kinase (Btk)

  Vargas-Vallejo L
• Article: LEUKEMIA & LYMPHOMA. 2002;43(11):2179-2189

  A novel B-cell line (U-2932) established from a patient with diffuse large B-cell lymphoma following Hodgkin lymphoma

  Amini RM; Berglund M; Rosenquist R; Von Heideman A; Lagercrantz S; Thunberg U; Bergh J; Sundström C; Glimelius B; Enblad G
• Article: ONCOLOGY REPORTS. 2002;9(6):1157-1161

  Cyclin D2 expression in familial and sporadic breast cancer

  Fischer HN; Chen JD; Skoog L; Lindblom A
• Article: CANCER GENETICS. 2002;139(1):38-43

  Clonal development of a blastoid mantle cell lymphoma studied with comparative genomic hybridization

  Flordal E; Berglund M; Rosenquist R; Erlanson M; Enblad G; Roos G; Larsson C; Lagercrantz S
• Article: JOURNAL OF PEDIATRIC SURGERY. 2002;37(11):1585-1588

  Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

  Mäkitie O; Heikkinen M; Kaitila I; Rintala R
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 2002;119(1):261-264

  Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene

  Gustavsson P; Klar J; Matsson H; Forestier E; Henter JI; Rao S; Seip M; Skeppner G; Dahl N
• Article: EXPERIMENTAL HEMATOLOGY. 2002;30(10):1170-1177

  Minimal residual disease quantification in childhood acute lymphoblastic leukemia by real-time polymerase chain reaction using the SYBR green dye

  Li AH; Forestier E; Rosenquist R; Roos G
• Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2002;94(18):1358-1365

  Cancer incidence in BRCA1 mutation carriers

  Thompson D; Easton DF
• Article: PEDIATRIC RADIOLOGY. 2002;32(9):684-689

  Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient

  Doria AS; Huang C; Makitie O; Thorner P; Kooh SW; Sochett E; Daneman A
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2002;17:S282

  Pubertal growth is normal in treated girls with X-linked hypophosphatemic rickets.

  Makitie O; Doria A; Daneman A; Sochett E
• Article: JOURNAL OF MEDICAL GENETICS. 2002;39(9):689-694

  Coping style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer

  Nordin K; Lidén A; Hansson M; Rosenquist R; Berglund G
• Journal article: LAKARTIDNINGEN. 2002;99(34):3296-3300

  [Essential to discover hereditary colorectal and endometrial cancer. Mutations in "HNPCC individuals" can cause several different tumors].

  Nilbert M; Grönberg H; Lindblom A
• Letter: NEW ENGLAND JOURNAL OF MEDICINE. 2002;347(7):539-540

  Complete molecular remission in chronic myelogenous leukemia after imatinib therapy

  Barbany G; Höglund M; Simonsson B
• Letter: BLOOD. 2002;100(3):1098-1099

  IgV_H3-21 gene usage in chronic lymphocytic leukemia

  Tobin G; Thunberg U; Johnson A; Söderberg O; Botling J; Enblad G; Sällström J; Sundström C; Roos G; Rosenquist R
• Article: MODERN PATHOLOGY. 2002;15(8):807-816

  Chromosomal imbalances in diffuse large B-cell lymphoma detected by comparative genomic hybridization

  Berglund M; Enblad G; Flordal E; Lui WO; Backlin C; Thunberg U; Sundström C; Roos G; Allander SV; Erlanson M; Rosenquist R; Larsson C; Lagercrantz S
• Article: TRANSPLANTATION. 2002;74(1):35-41

  Anti-lymphocyte function-associated antigen-1 monoclonal antibody inhibits CD40 ligand-independent immune responses and vasculopathy in CD40 ligand-deficient mice

  Corbascio M; Mahanty H; Österholm C; Qi ZQ; Pearson TC; Larsen CP; Freise CE; Ekberg H
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2002;10(7):439-447

  Worldwide mutation spectrum in cartilage-hair hypoplasia:: ancient founder origin of the major 70A→G mutation of the untranslated RMRP

  Ridanpää M; Sistonen P; Rockas S; Rimoin DL; Mäkitie O; Kaitila I
• Article: JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY. 2002;50(7):935-944

  Upregulation of VEGF-A without angiogenesis in a mouse model of dilated cardiomyopathy caused by mitochondrial dysfunction

  Tham E; Wang JM; Piehl F; Weber G
• Letter: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2002;94(12):951-952

  Re: Dominant negative ATM mutations in breast cancer families

  Lei HX; Pospisilova D; Lindblom A; Vorechovsky I
• Article: TRANSPLANT IMMUNOLOGY. 2002;10(1):55-61

  CTLA4Ig combined with anti-LFA-1 prolongs cardiac allograft survival indefinitely

  Corbascio M; Ekstrand H; Österholm C; Qi ZQ; Simanaitis M; Larsen CP; Pearson TC; Riesbeck K; Ekberg H
• Article: PROTEIN SCIENCE. 2002;11(6):1462-1471

  Substrate entropy in enzyme enantioselectivity: an experimental and molecular modeling study of a lipase.

  Ottosson J; Fransson L; Hult K
• Corrigendum: GUT. 2002;50(5):742

  Andenoma prevalence and cancer risk in familial non-polyposis colorectal cancer (vol 50, pg 228, 2002)

  Lindgren G; Liljegren A; Jaramillo E; Rubio C; Lindblom A
• Letter: INTERNATIONAL JOURNAL OF CANCER. 2002;98(5):799-800

  No evidence for a familial breast cancer susceptibility gene at chromosome 13q21 in Swedish breast cancer families

  Du Q; Luo LP; von Wachenfeldt A; Kockum I; Luthman H; Lindblom A
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2002;68(4):217-224

  Somatic hypermutation and V_H gene usage in mantle cell lymphoma

  Thorsélius M; Walsh S; Eriksson I; Thunberg U; Johnson A; Backlin C; Enblad G; Sundström C; Roos G; Rosenquist R
• Letter: INTERNATIONAL JOURNAL OF CANCER. 2002;98(4):638-639

  No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22

  Luo LP; Lei HX; Du Q; von Wachenfeldt A; Kockum I; Luthman H; Vorechovsky I; Lindblom A
• Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2002;9(4):405-409

  A region close to Tp53 shows LOH in familial breast cancer

  Luo LP; Chen JD; Du Q; Dumanski J; Blennow E; Kockum I; Luthman H; Lindblom A
• Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2002;277(11):9351-9357

  Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx

  Vargas L; Nore BF; Berglöf A; Heinonen JE; Mattsson PT; Smith CIE; Mohamed AJ
• Article: BLOOD. 2002;99(6):2262-2264

  Somatically mutated Ig V_H3-21 genes characterize a new subset of chronic lymphocytic leukemia

  Tobin G; Thunberg U; Johnson A; Thörn I; Söderberg O; Hultdin M; Botling J; Enblad G; Sällström J; Sundström C; Roos G; Rosenquist R
• Article: INTERNATIONAL JOURNAL OF CANCER. 2002;98(2):199-204

  CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk

  Lei HX; Sjöberg-Margolin S; Salahshor S; Werelius B; Jandáková E; Hemminki K; Lindblom A; Vorechovsky I
• Journal article: INTERNATIONAL JOURNAL OF COLORECTAL DISEASE. 2002;17(2):109-114

  Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study

  Park JG; Vasen HFA; Park YJ; Park KJ; Peltomaki P; de Leon MP; Rodriguez-Bigas MA; Lubinski J; Beck NE; Bisgaard ML; Miyaki M; Wijnen JT; Baba S; Lindblom A; Madlensky L; Lynch HT
• Review: ENDOSCOPY. 2002;34(3):226-236

  Classification of colorectal polyps: Guidelines for the endoscopist

  Rubio CA; Jaramillo E; Lindblom A; Fogt F
• Article: ACTA PAEDIATRICA. 2002;91(3):280-286

  Increased inspiratory effort in infants with a history of apparent life-threatening event

  Horemuzova E; Katz-Salamon M; Milerad J
• Article: HUMAN MOLECULAR GENETICS. 2002;11(4):431-438

  Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

  Wong A; Cavelier L; Collins-Schramm HE; Seldin MF; McGrogan M; Savontaus M-L; Cortopassi GA
• Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2002;1594(2):325-334

  Size as a parameter for solvent effects on Candida antarctica lipase B enantioselectivity.

  Ottosson J; Fransson L; King JW; Hult K
• Article: GUT. 2002;50(2):228-234

  Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

  Lindgren G; Liljegren A; Jaramillo E; Rubio C; Lindblom A
• Article: HUMAN GENETICS. 2002;110(2):145-147

  Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism

  Ahlbom BE; Yaqoob M; Gustavsson P; Abbas HG; Annerén G; Larsson A; Wadelius C
• Article: TRANSPLANTATION. 2002;73(2):293-297

  CTLA4Ig induces long-term graft survival of allogeneic skin grafts and totally inhibits T-cell proliferation in LFA-1-deficient mice

  Malm H; Corbascio M; Österholm C; Cowan S; Larsen CP; Pearson TC; Ekberg H
• Article: UPSALA JOURNAL OF MEDICAL SCIENCES. 2002;107(1):1-8

  Merging classical and modern genetic tools in the identification of disease genes

  Gustavsson P
• Article: CANCER RESEARCH. 2002;62(1):48-52

  Tumor-associated zinc finger mutations in the CTCF transcription factor selectively alter its DNA-binding specificity

  Filippova GN; Qi CF; Ulmer JE; Moore JM; Ward MD; Hu YJ; Loukinov DI; Pugacheva EM; Klenova EM; Grundy PE; Feinberg AP; Cleton-Jansen AM; Moerland EW; Cornelisse CJ; Suzuki H; Komiya A; Lindblom A; Dorion-Bonnet F; Neiman PE; Morse HCIII; Collins SJ; Lobanenkov VV
• Article: LEUKEMIA RESEARCH. 2001;25(12):1033-1045

  Detailed clonality analysis of relapsing precursor B acute lymphoblastic leukemia: implications for minimal residual disease detection

  Li AH; Rosenquist R; Forestier E; Lindh J; Roos G
• Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2001;98(23):13255-13260

  Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer

  Saeterdal I; Bjorheim J; Lislerud K; Gjertsen MK; Bukholm IK; Olsen OC; Nesland JM; Eriksen JA; Moller M; Lindblom A; Gaudernack G
• Article: HUMAN GENETICS. 2001;109(5):551-558

  Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

  Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson SA; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson N; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
• Article: CANCER RESEARCH. 2001;61(21):7798-7802

  The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

  Liu T; Yan H; Kuismanen S; Percesepe A; Bisgaard ML; Pedroni M; Benatti P; Kinzler KW; Vogelstein B; de Leon MP; Peltomäki P; Lindblom A
• Conference publication: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;69(4):642

  The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.

  Liu T; Kuismanen S; Percesepe A; Bisgaard ML; Pedroni M; Benatti P; de Leon MP; Peltomki P; Lindblom A
• Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2001;8(4):439-443

  A germline E-cadherin mutation in a family with gastric and colon cancer

  Salahshor S; Hou H; Diep CB; Loukola A; Zhang H; Liu T; Chen J; Iselius L; Rubio C; Lothe RA; Aaltonen L; Sun XF; Lindmark G; Lindblom A
• Doctoral thesis: 2001

  Clinical and genetic investigation of hypochondroplasia and dyschondrosteosis

  Grigelioniene G
• Conference publication: JOURNAL OF BONE AND MINERAL RESEARCH. 2001;16:S304

  Early treatment improves prepubertal growth in X-linked hypophosphatemic rickets.

  Makitie O; Sochett E
• Article: JOURNAL OF MEDICAL GENETICS. 2001;38(9):E29

  Screening families with endometrial and colorectal cancers for germline mutations

  Liu T; Chen J; Salahshor S; Kuismanen S; Holmberg E; Gronberg H; Peltomaeki P; Lindblom A
• Article: PROTEIN SCIENCE. 2001;10(9):1769-1774

  Rational design of enantioselective enzymes requires considerations of entropy.

  Ottosson J; Rotticci-Mulder JC; Rotticci D; Hult K
• Article: JOURNAL OF PEDIATRICS. 2001;138(6):929-931

  Hirschsprung disease associated with severe cartilage-hair hypoplasia

  Mäkitie O; Kaitila I; Rintala R
• Article: CARCINOGENESIS. 2001;22(6):875-878

  Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2

  Fischer H; Stenling R; Rubio C; Lindblom A
• Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2001;276(21):18046-18051

  Regulation and activity of the human ABCA1 gene in transgenic mice.

  Cavelier LB; Qiu Y; Bielicki JK; Afzal V; Cheng JF; Rubin EM
• Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2001;1(1):29-37

  Initial inhibition of tissue factor signalling reduces chronic vascular changes in isogenic rat aortic transplants

  Österholm C; Qi ZQ; Ekberg J; Veress B; Pyke C; Hedner U; Ekberg H
• Journal article: EUROPEAN JOURNAL OF CANCER. 2001;37:s231

  Psychological reactions among women with high risk of breast cancer considering prophylactic mastectomy

  Brandberg Y; Arver B; Lindblom A; Sandelin K; Wickman M; Hall P
• Article: GENOMICS. 2001;73(1):66-76

  Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences.

  Qiu Y; Cavelier L; Chiu S; Yang X; Rubin E; Cheng JF
• Article: ANNALS OF MEDICINE. 2001;33(3):201-205

  Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.

  Mäkitie OM; Tapanainen PJ; Dunkel L; Siimes MA
• Article: LABORATORY INVESTIGATION. 2001;81(4):535-541

  Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer

  Salahshor S; Koelble K; Rubio C; Lindblom A
• Letter: BLOOD. 2001;97(6):1892-1894

  CD38 expression is a poor predictor for V_H gene mutational status and prognosis in chronic lymphocytic leukemia

  Thunberg U; Johnson A; Roos G; Thöm I; Tobin G; Sällström J; Sundström C; Rosenquist R
• Article: EUROPEAN JOURNAL OF CANCER. 2001;37(4):499-502

  APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients

  Evertsson S; Lindblom A; Sun XF
• Letter: CLINICAL GENETICS. 2001;59(3):201-202

  The use of intragenic polymorphisms in determination of the genomic relevance of whole-exon deletions in MLH1 and MSH2

  Liu T; Holmberg E; Lindblom A
• Article: CANCER RESEARCH. 2001;61(4):1619-1623

  MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer

  Huang JQ; Kuismanen SA; Liu T; Chadwick RB; Johnson CK; Stevens MW; Richards SK; Meek JE; Gao X; Wright FA; Mecklin JP; Järvinen HJ; Grönberg H; Bisgaard ML; Lindblom A; Peltomäki P
• Article: CELL. 2001;104(2):195-203

  Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

  Ridanpää M; van Eenennaam H; Pelin K; Chadwick R; Johnson C; Yuan B; vanVenrooij W; Pruijn G; Salmela R; Rockas S; Mäkitie O; Kaitila I; de la Chapelle A
• Published conference paper: JOURNAL OF MOLECULAR CATALYSIS - B ENZYMATIC. 2001;11(4-6):1025-1028

  Influence of acyl chain length on the enantioselectivity of Candida antarctica lipase B and its thermodynamic components in kinetic resolution of sec-alcohols

  Ottosson J; Hult K
• Article: NUCLEIC ACIDS RESEARCH. 2001;29(2):578-581

  RNA-templated DNA ligation for transcript analysis

  Nilsson M; Antson DO; Barbany G; Landegren U
• Journal article: FAMILIAL CANCER. 2001;1(2):87-93

  The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study.

  Müller W; Burgart LJ; Krause-Paulus R; Thibodeau SN; Almeida M; Edmonston TB; Boland CR; Sutter C; Jass JR; Lindblom A; Lubinski J; MacDermot K; Sanders DS; Morreau H; Müller A; Oliani C; Orntoft T; Ponz De Leon M; Rosty C; Rodriguez-Bigas M; Rüschoff J; Ruszkiewicz A; Sabourin J; Salovaara R; Möslein G; ICG-HNPCC (International Collaborative Group)
• Article: ARCHIVES OF DISEASE IN CHILDHOOD. 2001;84(1):65-67

  Increased mortality in cartilage-hair hypoplasia

  Mäkitie O; Pukkala E; Kaitila I
• Article: BMC PHYSIOLOGY. 2001;1:1

  Differential expression of aquaporin 8 in human colonic epithelial cells and colorectal tumors.

  Fischer H; Stenling R; Rubio C; Lindblom A
• Review: CURRENT OPINION IN ONCOLOGY. 2001;13(1):63-69

  Different mechanisms in the tumorigenesis of proximal and distal colon cancers

  Lindblom A
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2001;5(1):1-8

  First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

  Arver B; Borg Å; Lindblom A
• Review: BREAST CANCER RESEARCH. 2001;3(3):199-207

  Low frequency of E-cadherin alterations in familial breast cancer

  Salahshor S; Lei HX; Huo HG; Kristensen VN; Loman N; Sjöberg-Margolin S; Borg Å; Borresen-Dale AL; Vorechovsky I; Lindblom A
• Article: BMC CANCER. 2001;1:17

  COL11A1 in FAP polyps and in sporadic colorectal tumors - art. no. 17

  Fischer H; Salahshor S; Stenling R; Björk J; Lindmark G; Iselius L; Rubio C; Lindblom A
• Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2000;275(51):40614-40619

  Nucleocytoplasmic shuttling of Bruton's tyrosine kinase

  Mohamed AJ; Vargas L; Nore BF; Bäckesjo CM; Christenssonn B; Smith CIE
• Published conference paper: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY. 2000;74(5):383-386

  Estrogens and human growth

  Ritzén EM; Nilsson O; Grigelioniene G; Holst M; Sävendahl L; Wroblewski J
• Article: ACTA PAEDIATRICA. 2000;89(11):1284-1289

  Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth

  Horemuzova E; Katz-Salamon M; Milerad J
• Article: JOURNAL OF PEDIATRICS. 2000;137(4):487-492

  Deficiency of humoral immunity in cartilage-hair hypoplasia

  Mäkitie O; Kaitila I; Savilahti E
• Article: ACTA PAEDIATRICA. 2000;89(9):1072-1076

  Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

  Grigelioniené G; Eklöf O; Laurencikas E; Ollars B; Hertel NT; Dumanski JP; Hagenäs L
• Article: EXPERIMENTAL CELL RESEARCH. 2000;259(1):79-85

  Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR.

  Cavelier L; Johannisson A; Gyllensten U
• Letter: BMJ-BRITISH MEDICAL JOURNAL. 2000;321(7257):380

  Tumour markers in malignancies - Reply

  Lindblom A; Liljegren A
• Review: SEMINARS IN CANCER BIOLOGY. 2000;10(4):271-288

  Hereditary breast cancer: a review

  Arver B; Du Q; Chen JD; Luo LP; Lindblom A
• Article: HUMAN GENETICS. 2000;107(2):145-149

  Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

  Grigelioniene G; Eklöf O; Ivarsson SA; Westphal O; Neumeyer L; Kedra D; Dumanski J; Hagenäs L
• Article: SEMINARS IN CANCER BIOLOGY. 2000;10(4):251-254

  The biology of inherited cancer

  Lindblom A; Nordenskjöld M
• Article: CLINICAL CHEMISTRY. 2000;46(7):913-920

  Manifold-assisted reverse transcription-PCR with real-time detection for measurement of the BCR-ABL fusion transcript in chronic myeloid leukemia patients

  Barbany G; Hagberg A; Olsson-Strömberg U; Simonsson B; Syvänen AC; Landegren U
• Article: NATURE BIOTECHNOLOGY. 2000;18(7):791-793

  Enhanced detection and distinction of RNA by enzymatic probe ligation

  Nilsson M; Barbany G; Antson DO; Gertow K; Landegren U
• Article: HUMAN GENETICS. 2000;107(1):45-50

  MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions.

  Cavelier L; Jazin E; Jalonen P; Gyllensten U
• Article: NUCLEIC ACIDS RESEARCH. 2000;28(11):E54

  Expression profiling across many samples via manifold-assisted mRNA processing.

  Hagberg A; Barbany G; Krook H; Samiotaki M; Landegren U
• Article: CLINICAL GENETICS. 2000;57(5):394-397

  Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p

  Chen JD; Lindblom A
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2000;85(5):2042-2047

  Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.

  Carling T; Szabo E; Bai M; Ridefelt P; Westin G; Gustavsson P; Trivedi S; Hellman P; Brown EM; Dahl N; Rastad J
• Corrigendum: BMJ-BRITISH MEDICAL JOURNAL. 2000;320(7238):867

  Tumour markers in malignancies (vol 320, pg 424, 2000)

  Lindblom A; Liljegren A
• Article: INTERNATIONAL JOURNAL OF CANCER. 2000;85(6):796-800

  Germline BRCAl and hMLHl mutations in a family with male and female breast carcinoma

  Borg A; Isola J; Chen JD; Rubio C; Johansson U; Werelius B; Lindblom A
• Review: BMJ-BRITISH MEDICAL JOURNAL. 2000;320(7232):424-427

  Tumour markers in malignancies

  Lindblom A; Liljegren A
• Article: JOURNAL OF MEDICAL GENETICS. 2000;37(2):128-131

  A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

  Tentler D; Gustavsson P; Elinder G; Eklöf O; Gordon L; Mandel A; Dahl N
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2000;85(2):563-568

  Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system

  Mäkitie O; Juvonen E; Dunkel L; Kaitila I; Siimes MA
• Article: BRITISH JOURNAL OF CANCER. 2000;82(3):601-607

  Telomere length and telomerase activity in malignant lymphomas at diagnosis and relapse

  Remes K; Norrback KF; Rosenquist R; Mehle C; Lindh J; Roos G
• Article: GENES CHROMOSOMES & CANCER. 2000;27(1):17-25

  Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer

  Liu T; Wahlberg S; Burek E; Lindblom P; Rubio C; Lindblom A
• Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2000;116(12):1299-1308

  [The role of immune deficiency in cartilage-hair hypoplasia].

  Mäkitie O; Kaitila I; Pukkala E; Teppo L; Savilahti E
• Article: JOURNAL OF MOLECULAR MEDICINE-JMM. 2000;78(10):580-587

  Enhanced detection of mutations in BRCA1 exon 11 using restriction endonuclease fingerprinting-single-strand conformation polymorphism

  Jugessur A; Frost P; Andersen TI; Steine S; Lindblom A; Borresen-Dale AL; Eiken HG
• Article: EUROPEAN JOURNAL OF IMMUNOLOGY. 2000;30(1):145-154

  Redistribution of Bruton's tyrosine kinase by activation of phosphatidylinositol 3-kinase and Rho-family GTPases

  Nore BF; Vargas L; Mohamed AJ; Brandén LJ; Bäckesjö CM; Islam TC; Mattsson PT; Hultenby K; Christensson B; Smith CIE
• Article: NEW BIOTECHNOLOGY. 1999;16(1-4):105-111

  Molecular genetic applications of streptavidin-coated manifold supports

  Barbany G; Hagberg A; Waldenström E; Landegren U
• Article: BLOOD. 1999;94(12):4294-4306

  Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression

  Willig TN; Draptchinskaia N; Dianzani I; Ball S; Niemeyer C; Ramenghi U; Orfali K; Gustavsson P; Garelli E; Brusco A; Tiemann C; Pérignon JL; Bouchier C; Cicchiello L; Dahl N; Mohandas N; Tchernia G
• Article: HUMAN GENETICS. 1999;105(5):437-441

  Missense mutations in hMLH1 associated with colorectal cancer

  Liu T; Tannergård P; Hackman P; Rubio C; Kressner U; Lindmark G; Hellgren D; Lambert B; Lindblom A
• Article: HUMAN GENETICS. 1999;105(5):496-500

  Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

  Matsson H; Klar J; Draptchinskaia N; Gustavsson P; Carlsson B; Bowers D; de Bont E; Dahl N
• Article: GENES CHROMOSOMES & CANCER. 1999;26(3):247-252

  Colorectal cancer with and without microsatellite instability involves different genes

  Salahshor S; Kressner U; Pahlman L; Glimelius B; Lindmark G; Lindblom A
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 1999;63(4):211-218

  Clonal rearrangements in childhood and adult precursor B acute lymphoblastic leukemia:: a comparative polymerase chain reaction study using multiple sets of primers

  Li AH; Rosenquist R; Forestier E; Holmberg D; Lindh J; Löfvenberg E; Roos G
• Article: BRITISH JOURNAL OF CANCER. 1999;81(2):190-193

  Microsatellite instability in sporadic colorectal cancer is not an independent prognostic factor

  Salahshor S; Kressner U; Fischer H; Lindmark G; Glimelius B; Påhlman L; Lindblom A
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 1999;63(3):171-179

  Clonal evolution as judged by immunoglobulin heavy chain gene rearrangements in relapsing precursor-B acute lymphoblastic leukemia

  Rosenquist R; Thunberg U; Li AH; Forestier E; Lönnerholm G; Lindh J; Sundström C; Sällstrom J; Holmberg D; Roos G
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1999;7(5):541-548

  Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

  Tentler D; Gustavsson P; Leisti J; Schueler M; Chelly J; Timonen E; Annerén G; Willard HF; Dahl N
• Meeting abstract: PEDIATRIC RESEARCH. 1999;45(6):941

  Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19Q13 and evidence for genetic heterogeneity

  Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willing TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N
• Article: CLINICAL GENETICS. 1999;55(6):487-492

  A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

  Cario H; Bode H; Gustavsson P; Dahl N; Kohne E
• Article: BRITISH JOURNAL OF CANCER. 1999;80(1-2):11-16

  Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours

  Ghimenti C; Tannergård P; Wahlberg S; Liu T; Giulianotti PG; Mosca F; Fornaciari G; Bevilacqua G; Lindblom A; Caligo MA
• Article: BRITISH JOURNAL OF HAEMATOLOGY. 1999;104(4):841-848

  Diamond-Blackfan anaemia in the Italian population

  Ramenghi U; Garelli E; Valtolina S; Campagnoli MF; Timeus F; Crescenzio N; Mair M; Varotto S; D'Avanzo M; Nobili B; Massolo F; Mori PG; Locatelli F; Gustavsson P; Dahl N; Dianzani I
• Article: JOURNAL OF PEDIATRICS. 1999;134(3):315-318

  Increased incidence of cancer in patients with cartilage-hair hypoplasia

  Mäkitie O; Pukkala E; Teppo L; Kaitila I
• Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1999;82(4):348-351

  Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

  Gustavsson P; Kimber E; Wahlström J; Annerén G
• Article: NATURE GENETICS. 1999;21(2):169-175

  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

  Draptchinskaia N; Gustavsson P; Andersson B; Pettersson M; Willig TN; Dianzani I; Ball S; Tchernia G; Klar J; Matsson H; Tentler D; Mohandas N; Carlsson B; Dahl N
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 1999;62(2):123-128

  V_H gene family utilization in different B-cell lymphoma subgroups

  Rosenquist R; Lindström A; Holmberg D; Lindh J; Roos G
• Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1999;84(1):370-373

  Demonstration of estrogen receptor-β immunoreactivity in human growth plate cartilage

  Nilsson LO; Boman A; Sävendahl L; Grigelioniene G; Ohlsson C; Ritzen EM; Wroblewski J
• Article: ACTA ONCOLOGICA. 1999;38(4):439-447

  Hereditary cancer

  Lindblom A; Nordenskjöld M
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 1999;3(3):259-264

  Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1

  Wahlberg S; Liu T; Lindblom P; Lindblom A
• Article: GENETIC TESTING AND MOLECULAR BIOMARKERS. 1999;3(2):223-226

  BRCA1 screening in patients with a family history of breast or ovarian cancer

  Arver B; Claro A; Langerod A; Borresen-Dale AL; Lindblom A
• Journal article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1999;84(1):370-373

  Demonstration of Estrogen Receptor-  Immunoreactivity in Human Growth Plate Cartilage

  Nilsson LO
• Article: BIOCATALYSIS AND BIOTRANSFORMATION. 1999;17(1):61-79

  The temperature dependence of enzymatic kinetic resolutions reveals the relative contribution of enthalpy and entropy to enzymatic enantioselectivity

  Overbeeke PLA; Ottosson J; Hult K; Jongejan JA; Duine JA
• Article: BLOOD. 1998;92(11):4422-4427

  High adenosine deaminase level among healthy probands of Diamond Blackfan Anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13

  Willig TN; Pérignon JL; Gustavsson P; Gane P; Draptchinskaya N; Testard H; Girot R; Debré M; Stéphan JL; Chenel C; Cartron JP; Dahl N; Tchernia G
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 1998;63(5):1388-1395

  Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

  Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig TN; Tentler D; Dianzani I; Punnett HH; Shafer FE; Cario H; Ramenghi U; Glomstein A; Pfeiffer RA; Goringe A; Olivieri NF; Smibert E; Tchernia G; Elinder G; Dahl N
• Letter: EUROPEAN JOURNAL OF CANCER. 1998;34(12):1981

  MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility

  Liu T; Stathopoulos P; Lindblom P; Rubio C; Arver BW; Iselius L; Holmberg E; Grönberg H; Lindblom A
• Article: EUROPEAN JOURNAL OF PEDIATRICS. 1998;157(10):816-820

  Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia

  Mäkitie O; Kaitila I; Savilahti E
• Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 1998;61(3):164-172

  Low rate of somatic hypermutations characterize progressive B-cell lymphomas

  Rosenquist R; Lindström A; Li AH; Roos G; Lindh J; Holmberg D
• Article: MAMMALIAN GENOME. 1998;9(8):660-665

  Expression and chromosomal localization of the Requiem gene

  Gabig TG; Crean CD; Klenk A; Long HY; Copeland NG; Gilbert DJ; Jenkins NA; Quincey D; Parente F; Lespinasse F; Carle GF; Gaudray P; Zhang CX; Calender A; Hoeppener J; Kas K; Thakker RV; Farnebo F; Teh BT; Larsson C; Piehl F; Lagercrantz J; Khodaei S; Carson E; Weber G
• Article: INTERNATIONAL JOURNAL OF ONCOLOGY. 1998;13(2):289-295

  Loss of heterozygosity at chromosome 3p correlates with telomerase activity in renal cell carcinoma

  Mehle C; Lindblom A; Ljungberg B; Stenling R; Roos G
• Editorial: NEW ENGLAND JOURNAL OF MEDICINE. 1998;339(4):264-265

  Improved tumor staging in colorectal cancer

  Lindblom A
• Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 1998;403(1-2):103-112

  Mutation analyses of KRAS exon 1 comparing three different techniques:: temporal temperature gradient electrophoresis, constant denaturant capillary electrophoresis and allele specific polymerase chain reaction

  Bjorheim J; Lystad S; Lindblom A; Kressner U; Westring S; Wahlberg S; Lindmark G; Gaudernack G; Ekstrom P; Roe J; Thilly WG; Borresen-Dale AL
• Article: CANCER RESEARCH. 1998;58(14):2923-2924

  The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer

  Lothe RA; Hektoen M; Johnsen H; Meling GI; Andersen TI; Rognum TO; Lindblom A; Borresen-Dale AL
• Article: GENOMICS. 1998;51(1):160-161

  Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia

  Ghanshani S; Coleman M; Gustavsson P; Wu ACL; Gargus JJ; Gutman GA; Dahl N; Mohrenweiser H; Chandy KG
• Article: GENES CHROMOSOMES & CANCER. 1998;22(1):26-36

  A widely expressed transcription factor with multiple DNA sequence specificity, CTCF, is localized at chromosome segment 16q22.1 within one of the smallest regions of overlap for common deletions in breast and prostate cancers

  Filippova GN; Lindblom A; Meincke LJ; Klenova EM; Neiman PE; Collins SJ; Doggett NA; Lobanenkov VV
• Article: CANCER RESEARCH. 1998;58(7):1376-1379

  The role of ataxia-telangiectasia heterozygotes in familial breast cancer

  Chen JD; Giesler G; Birkholtz G; Lindblom P; Rubio C; Lindblom A
• Article: IUBMB LIFE. 1998;44(3):589-594

  A sequence highly similar to PNG is located on chromosome 22q12 in intron 15 of the LIMK-2 gene

  Kedra D; Carson E; Weber G; Lagercrantz J
• Article: CANCER RESEARCH. 1998;58(5):1004-1012

  Consortium study on 1280 breast carcinomas: Allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters

  Phelan CM; Borg Å; Cuny M; Crichton DN; Baldersson T; Andersen TI; Caligo MA; Lidereau R; Lindblom A; Seitz S; Kelsell D; Hamann K; Rio P; Thorlacius S; Papp J; Olah E; Ponder B; Bignon YJ; Scherneck S; Barkardottir R; Borresen-Dale AL; Eyfjörd J; Theillet C; Thompson AM; Devilee P; Larsson C
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 1998;62(3):676-689

  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families

  Ford D; Easton DF; Stratton M; Narod S; Goldgar D; Devilee P; Bishop DT; Weber B; Lenoir G; Chang-Claude J; Sobol H; Teare MD; Struewing J; Arason A; Scherneck S; Peto J; Rebbeck TR; Tonin P; Neuhausen S; Barkardottir R; Eyfjord J; Lynch H; Ponder BAJ; Gayther SA; Birch JM; Lindblom A; Stoppa-Lyonnet D; Bignon Y; Borg A; Hamann U; Haites N; Scott RJ; Maugard CM; Vasen H
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1998;6(2):134-139

  BRCA2 germline mutations in Swedish breast cancer families

  Chen JD; Hedman MZ; Arver BW; Sigurdsson S; Eyfjörd JE; Lindblom A
• Article: EUROPEAN JOURNAL OF CANCER. 1998;34(4):518-521

  Ki-ras mutations and prognosis in colorectal cancer

  Kressner U; Bjorheim J; Westring S; Wahlberg SS; Påhlman L; Glimelius B; Lindmark G; Lindblom A; Borresen-Dale AL
• Article: PHARMACOGENETICS AND GENOMICS. 1998;8(1):43-48

  A rare CYP19 (aromatase) variant may increase the risk of breast cancer

  Kristensen VN; Andersen TI; Lindblom A; Erikstein B; Magnus P; Borresen-Dale AL
• Article: CLINICAL GENETICS. 1998;53(2):131-135

  DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer

  Liu T; Wahlberg S; Rubio C; Holmberg E; Gronberg H; Lindblom A
• Article: ACTA ONCOLOGICA. 1998;37(2):193-200

  Alterations of the immunoglobulin heavy chain locus in progressive B-cell lymphomas

  Rosenquist R; Linderholm B; Lindström A; Hagberg H; Sundström C; Roos G; Holmberg D; Lindh J
• Letter: HUMAN GENETICS. 1998;102(1):124-125

  A study of the PTEN/MMAC1 gene in 136 breast cancer families

  Chen JD; Lindblom P; Lindblom A
• Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 1998;6:70

  Increased cancer incidence in cartilage-hair hypoplasia

  Makitie O; Pukkala E; Teppo L; Kaitila I
• Article: HUMAN MUTATION. 1998;11(4):333

  A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

  Grigelioniene G; Hagenas L; Eklof O; Neumeyer L; Haereid PE; Anvret M
• Journal article: HUMAN MUTATION. 1998;11(4):333

  Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.

  Balzano N; Villani GR; Grosso M; Izzo P; Di Natale P
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1997;5(6):406-412

  Mitochondrial sequence variants in patients with schizophrenia.

  Lindholm E; Cavelier L; Howell WM; Eriksson I; Jalonen P; Adolfsson R; Blackwood DH; Muir WJ; Brookes AJ; Gyllensten U; Jazin EE
• Article: HUMAN GENETICS. 1997;101(1):51-55

  Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

  Tannergard P; Liu T; Weger A; Nordenskjold M; Lindblom A
• Letter: NATURE GENETICS. 1997;17(2):135-136

  A human compound heterozygote for two MLH1 missense mutations

  Hackman P; Tannergard P; OseiMensa S; Chen JD; Kane MF; Kolodner R; Lambert B; Hellgren D; Lindblom A
• Article: GASTROENTEROLOGY. 1997;113(4):1146-1158

  Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study

  Peltomaki P; Vasen HFA; Bisgaard ML; Buerstedde JM; Friedl W; Grandjouan S; Hutter P; KohonenCorish M; Kolodner R; Kurzawski G; Lindblom A; Lynch HT; Piepoli A; deLeon MP; Radice P; Thibodeau S; Weber W; West S; Wijnen J
• Article: JOURNAL OF MEDICAL GENETICS. 1997;34(9):779-782

  Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

  Gustavsson P; Skeppner G; Johansson B; Berg T; Gordon L; Kreuger A; Dahl N
• Article: NATURE GENETICS. 1997;16(4):368-371

  Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

  Gustavsson P; Willig TN; vanHaeringen A; Tchernia G; Dianzani I; Donner M; Elinder G; Henter JI; Nilsson PG; Gordon L; Skeppner G; vantVeerKorthof L; Kreuger A; Dahl N
• Conference publication: FASEB JOURNAL. 1997;11(9):A798

  Polymorphisms in the CYP19 (aromatase) gene with putative role in the regulation of gene expression

  Nedelcheva V; Andersen TI; Lindblom A; Kristensen T; Nesland JM; Olsen A; Borresen-Dale AL
• Article: NATURE GENETICS. 1997;16(3):252-255

  Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

  Nilsson M; Krejci K; Koch J; Kwiatkowski M; Gustavsson P; Landegren U
• Article: CANCER RESEARCH. 1997;57(12):2474-2477

  A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region

  ZeladaHedman M; Arver BW; Claro A; Chen JD; Werelius B; Kok H; Sandelin K; Hakansson S; Andersen TI; Borg A; Dale ALB; Lindblom A
• Article: DIAGNOSTIC MOLECULAR PATHOLOGY. 1997;6(3):140-146

  Comparative analysis of detection systems for evaluation of PCR amplified immunoglobulin heavy-chain gene rearrangements

  Thunberg U; Rosenquist R; Lindstrom A; Lindh J; Sundstrom C; Roos G; Sallstrom J
• Article: JOURNAL OF PEDIATRICS. 1997;130(4):641-646

  Growth in diastrophic dysplasia

  Makitie O; Kaitila I
• Article: MOLECULAR IMMUNOLOGY. 1997;34(4):305-313

  Immunoglobulin V-H gene replacements in a T-cell lymphoblastic lymphoma

  Rosenquist R; Lindh J; Roos G; Holmberg D
• Letter: INTERNATIONAL JOURNAL OF CANCER. 1997;74(1):134-137

  Low frequency of hMSH2 mutations in Swedish HNPCC families

  Wahlberg SS; NystromLahti M; Kane MF; Kolodner RD; Peltomaki P; Lindblom A
• Letter: HUMAN MUTATION. 1997;9(3):289

  Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation

  ZeladaHedman M; BorresenDale AL; Lindblom A
• Article: HUMAN MUTATION. 1997;10(2):89-99

  Molecular basis of HNPCC: Mutations of MMR genes

  Papadopoulos N; Lindblom A
• Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1997;5(1):35-42

  Uniparental disomy in cartilage-hair hypoplasia

  Sulisalo T; Makitie O; Sistonen P; Ridanpaa M; ElRifai W; Ruuskanaen O; delaChapelle A; Kaitila I
• Article: BRITISH JOURNAL OF CANCER. 1997;75(8):1201-1204

  Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families

  ZeladaHedman M; BorresenDale AL; Claro A; Chen J; Skoog L; Lindblom A
• Article: HUMAN GENETICS. 1996;99(1):130-132

  Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1

  Weber G; Grimmond S; Lagercrantz J; Friedman E; Phelan C; Carson E; Hayward N; Jacobovitz O; Nordenskjold M; Larsson C
• Article: PEDIATRIC RESEARCH. 1996;40(6):809-814

  Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin

  Grigelioniene G; Blennow M; Torok C; Fried G; Dahlin I; Lendahl U; Lagercrantz H
• Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 1996;93(22):12382-12387

  Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.

  Jazin EE; Cavelier L; Eriksson I; Oreland L; Gyllensten U
• Review: CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY. 1996;24(2):71-96

  The metastatic phenotype-prognostic implications

  Lindblom A; Linder S
• Journal article: CANCER GENETICS. 1996;91(2):186

  Localization and ordering of the human 3PK gene and five other human chromosome 3 markers. Attempt to establish the borders of the nonrandomly eliminated putative chromosome 3 tumor suppressor regions in mouse-human microcell hybrid derived SCID tumors

  Szeles A; Kholodnyuk I; Bajalica S; Lindblom A; Lushnikova T; Kashuba V; Nordenskjöld M; Stanbridge E; Zabarovsky E; Klein G; Imreh S
• Article: CANCER RESEARCH. 1996;56(18):4130-4133

  ATM mutations in cancer families

  Vorechovsky I; Luo LP; Lindblom A; Negrini M; Webster ADB; Croce CM; Hammarstrom L
• Journal article: PEDIATRIC RESEARCH. 1996;40(3):531

  Intermediate Filament Nestin is Present in the Cerebrospinal Fluid of Children. 97

  Grigelioniené G; Blennow M; Marchini G; Wahlquist Y; Lendahl U
• Article: HUMAN GENETICS. 1996;98(2):185-188

  Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene

  DeMarco L; Stratakis CA; Boson WL; Jakbovitz O; Carson E; Andrade LM; Amaral VF; Rocha JL; Choursos GP; Nordenskjold M; Friedman E
• Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1996;223(2):335-340

  Sequence and expression of the mouse homologue to human phospholipase C beta 3 neighboring gene

  Lagercrantz J; Kedra D; Carson E; Nordenskjold M; Dumanski JP; Weber G; Piehl F
• Article: CHROMOSOME RESEARCH. 1996;4(4):310-313

  Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22-p21 tumour-suppressor region by two-colour fluorescence in situ hybridization

  Szeles A; BajalicaLagercrantz S; Lindblom A; Lushnikova T; Kashuba VI; Imreh S; Nordenskjold M; Klein G; Zabarovsky ER
• Conference publication: PEDIATRIC RESEARCH. 1996;39(4):2223

  The embryonic intermediate filament protein nestin is present in the cerebrospinal fluid of NICU infants.

  Blennow M; Grigelioniene G; Torok C; Lendahl U; Lagercrantz F
• Journal article: PEDIATRIC RESEARCH. 1996;39(Suppl 4):373

  THE EMBRYONIC INTERMEDIATE FILAMENT PROTEIN NESTIN IS PRESENT IN THE CEREBROSPINAL FLUID OF NICU INFANTS. † 2223

  Blennow M; Grigelioniené G; Török C; Lendahl U; Lagercrantz H
• Article: LAKARTIDNINGEN. 1996;93(10):908-910

  [Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law].

  Lindblom A; Nordenskjöld M
• Article: GENOME RESEARCH. 1996;6(2):124-131

  Cloning and characterization of a novel human gene related to vascular endothelial growth factor

  Grimmond S; Lagercrantz J; Drinkwater C; Silins G; Townson S; Pollock P; Gotley D; Carson E; Rakar S; Nordenskjold M; Ward L; Hayward N; Weber G
• Article: GENOMICS. 1996;31(3):380-384

  Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13

  Lagercrantz J; Carson E; Larsson C; Nordenskjold M; Weber G
• Article: CANCER RESEARCH. 1995;55(24):6092-6096

  MUTATION SCREENING IN THE HMLH1 GENE IN SWEDISH HEREDITARY NONPOLYPOSIS COLON-CANCER FAMILIES

  TANNERGARD P; LIPFORD JR; KOLODNER R; FRODIN JE; NORDENSKJOLD M; LINDBLOM A
• Addendum: NATURE MEDICINE. 1995;1(12):1319

  FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES (VOL 1, PG 1104, 1995)

  TANNERGARD P; NORDENSKJOLD M; LINDBLOM A; LYSTROMLAHTI M; DELACHAPELLE A; PELTOMAKI P
• Letter: NATURE MEDICINE. 1995;1(11):1104

  FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES

  TANNERGARD P; NORDENSKJOLD M; LINDBLOM A
• Conference publication: EUROPEAN JOURNAL OF CANCER. 1995;31A:335

  Identification of individuals with a genetic predisposition for colon cancer - HNPCC

  Lindblom A
• Article: JOURNAL OF INTERNAL MEDICINE. 1995;238(3):245-248

  CANDIDATE GENES FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-1

  LAGERCRANTZ J; LARSSON C; GRIMMOND S; SKOGSEID B; GOBL A; FRIEDMAN E; CARSON E; PHELAN C; OBERG K; NORDENSKJOLD M; HAYWARD NK; WEBER G
• Article: GENES CHROMOSOMES & CANCER. 1995;13(3):203-210

  HIGH ALLELE LOSS RATES AT 17Q12-Q21 IN BREAST AND OVARIAN-TUMORS FROM BRCA1-LINKED FAMILIES

  CORNELIS RS; NEUHAUSEN SL; JOHANSSON O; ARASON A; KELSELL D; PONDER BAJ; TONIN P; HAMANN U; LINDBLOM A; LALLE P; LONGY M; OLAH E; SCHERNECK S; BIGNON YJ; SOBOL H; CHANGCLAUDE J; LARSSON C; SPURR N; BORG A; BARKARDOTTIR RB; NAROD S; DEVILEE P
• Article: LAKARTIDNINGEN. 1995;92(18):1915-1918

  [Experiences from a clinic for patients with hereditary cancer. Diagnosis of genetic carriers may prevent cancer].

  Lindblom A; Iselius L
• Review: BREAST CANCER RESEARCH AND TREATMENT. 1995;34(2):171-183

  FAMILIAL BREAST-CANCER AND GENES INVOLVED IN BREAST CARCINOGENESIS

  LINDBLOM A
• Article: CANCER GENETICS. 1995;81(1):46-55

  CYTOGENETIC ANALYSIS OF SHORT-TERM CULTURED SQUAMOUS-CELL CARCINOMAS OF THE LUNG

  JOHANSSON M; JIN YS; MANDAHL N; HAMBRAEUS G; JOHANSSON L; MITELMAN F; HEIM S
• Article: GENOMICS. 1995;26(3):467-472

  GENOMIC ORGANIZATION AND COMPLETE CDNA SEQUENCE OF THE HUMAN PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE-C BETA-3 GENE (PLCB3)

  LAGERCRANTZ J; CARSON E; PHELAN C; GRIMMOND S; ROSEN A; DARE E; NORDENSKJOLD M; HAYWARD NK; LARSSON C; WEBER G
• Article: HUMAN MOLECULAR GENETICS. 1995;4(4):727-729

  SEQUENCE VARIABILITY OF A PROLONGED TETRANUCLEOTIDE REPEAT

  LIU Y; RASOOL O; GRANDER D; LINDBLOM A; EINHORN S
• Letter: CANCER GENETICS. 1995;80(1):85-86

  TRANSLOCATION-11-19 IN A MUCOEPIDERMOID TUMOR OF THE LUNG

  JOHANSSON M; MANDAHL N; JOHANSSON L; HAMBRAEUS G; MITELMAN F; HEIM S
• Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 1995;273(7):535-541

  A COLLABORATIVE SURVEY OF 80 MUTATIONS IN THE BRCA1 BREAST-CANCER AND OVARIAN-CANCER SUSCEPTIBILITY GENE - IMPLICATIONS FOR PRESYMPTOMATIC TESTING AND SCREENING

  SHATTUCKEIDENS D; MCCLURE M; SIMARD J; LABRIE F; NAROD S; COUCH F; HOSKINS K; WEBER B; CASTILLA L; ERDOS M; BRODY L; FRIEDMAN L; OSTERMEYER E; SZABO C; KING MC; JHANWAR S; OFFIT K; NORTON L; GILEWSKI T; LUBIN M; OSBORNE M; BLACK D; BOYD M; STEEL M; INGLES S; HAILE R; LINDBLOM A; OLSSON H; BORG A; BISHOP DT; SOLOMON E; RADICE P; SPATTI G; GAYTHER S; PONDER B; WARREN W; STRATTON M; LIU QY; FUJIMURA F; LEWIS C; SKOLNICK MH; GOLDGAR DE
• Article: LAKARTIDNINGEN. 1995;92(4):269-275

  [The first breast cancer gene isolated. Safer risk assessment for affected families].

  Iselius L; Larsson C; Lindblom A; Sandelin K; Wickman M; Wilking N
• Article: JOURNAL OF MEDICAL GENETICS. 1995;32(1):39-43

  CARTILAGE-HAIR HYPOPLASIA

  MAKITIE O; SULISALO T; DELACHAPELLE A; KAITILA I
• Article: EUROPEAN JOURNAL OF PEDIATRICS. 1995;154(1):30-34

  DEFECTIVE IN-VITRO COLONY FORMATION OF HEMATOPOIETIC PROGENITORS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA AND HISTORY OF ANEMIA

  JUVONEN E; MAKITIE O; MAKIPERNAA A; RUUTU T; KAITILA I; RAJANTIE J
• Article: AMERICAN JOURNAL OF HUMAN GENETICS. 1995;56(1):254-264

  AN EVALUATION OF GENETIC-HETEROGENEITY IN 145 BREAST-CANCER OVARIAN-CANCER FAMILIES

  NAROD SA; FORD D; DEVILEE P; BARKARDOTTIR RB; LYNCH HT; SMITH SA; PONDER BAJ; WEBER BL; GARBER JE; BIRCH JM; CORNELIS RS; KELSELL DP; SPURR NK; SMYTH E; HAITES N; SOBOL H; BIGNON YJ; CHANGCLAUDE J; HAMANN U; LINDBLOM A; BORG A; PIVER MS; GALLION HH; STRUEWING JP; WHITTEMORE A; TONIN P; GOLDGAR DE; EASTON DF; MILNER B; ALLAN L; SIMARD J; ROMMENS J; MCGILLIVRAY B; GREEN R; IVES E; BOYD N; ROSEN B; COLE D; MORGAN K; MOSLEHI R; PONDER B; PETO J; SMITH S; STRATTON M; DICIOCCIO RA; GALLION H; SANTIBANEZKOREF MS; TEARE MD; EVANS DG; STOPPALYONNET D; LALLE P; BONAITI C; ESSIOUX L; GIRODET C; MAUGARDLOUBOUTIN C; NICOLLEAU G; LONGY M; TOULOUSE C; HORSTEIN I; BIRNBAUM D; EISINGER F; KARENGUEVEN F; NOGUCHI T; HARDOUIN A; RIO P; MACHELARDROUMAGNAC M; NOGUES C; COHENHAGUENAUER O; LORTHOLARY A; BAY JO; ARASON A; BARKDARDOTTIR RB; EGILSSON V; BISHOP DT; KELSELL D; MURDAY VA; SOLOMON E; SPURR N; TURNER G; LENOIR G; FEUNTEUN J; LYNCH H; LYNCH J; WATSON P; CONWAY T; BONNARDEL C; SEROVA O; TORCHARD D; LARSSON C; VASEN H; VANLEEUWEN I; CORNELISSE CJ; STEEL M; PORTER D; COHEN BB; CAROTHERS A; CANNONALBRIGHT LA; GOLDGAR D; SKOLNICK M; BECHER H; JOHANNSSON O; WEBER B; COLLINS F; BOEHNKE M; GARBER J; LI F
• Conference publication: PATHOLOGIE ET BIOLOGIE. 1994;42(10):1059-1060

  DEFECTIVE-DNA MISMATCH REPAIR AS A CAUSE OF COLON-CANCER

  LINDBLOM A; TANNERGARD P; NORDENSKJOLD M
• Journal article: EJSO. 1994;20(6):667-673

  Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers.

  Zelada-Hedman M; Iselius L; Gunvén P; Weger A; Nordenskjöld M; Skoog L; Lindblom A
• Journal article: ANTICANCER RESEARCH. 1994;14(5A):1679-1688

  HIGH EXPRESSION OF THE EGFR IN FIBROADENOMAS COMPARED TO BREAST CARCINOMAS

  ZELADAHEDMAN M; WERER G; COLLINS P; BACKDAHL M; PEREZ I; FRANCO S; JIMENEZ J; CRUZ J; TORROELLA M; NORDENSKJOLD M; SKOOG L; LINDBLOM A
• Journal article: HUMAN GENETICS. 1994;94(3):231-234

  LOSS OF HETEROZYGOSITY STUDIES IN TUMORS FROM FAMILIES WITH BREAST-OVARIAN CANCER SYNDROME

  ZELADAHEDMAN M; TORROELLA M; MESQUITA R; NORDENSKJOLD M; SKOOG L; LINDBLOM A
• Journal article: HUMAN GENETICS. 1994;94(2):210-214

  SUBLOCALIZATION OF A LOCUS AT 3P21.3-23 PREDISPOSING TO HEREDITARY NONPOLYPOSIS COLON-CANCER

  TANNERGARD P; ZABAROVSKY E; STANBRIDGE E; NORDENSKJOLD M; LINDBLOM A
• Journal article: LAKARTIDNINGEN. 1994;91(23):2340-2343

  [Insufficient "proof-reading" after replication. Newly discovered mechanism of colon cancer].

  Lindblom A
• Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 1994;54(5):871-876

  PREDISPOSITION FOR BREAST-CANCER IN CARRIERS OF CONSTITUTIONAL TRANSLOCATION 11Q22Q

  LINDBLOM A; SANDELIN K; ISELIUS L; DUMANSKI J; WHITE I; NORDENSKJOLD M; LARSSON C
• Journal article: NATURE. 1994;368(6468):258-261

  MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER

  BRONNER CE; BAKER SM; MORRISON PT; WARREN G; SMITH LG; LESCOE MK; KANE M; EARABINO C; LIPFORD J; LINDBLOM A; TANNERGARD P; BOLLAG RJ; GODWIN AR; WARD DC; NORDENSKJOLD M; FISHEL R; KOLODNER R; LISKAY RM
• Journal article: INTERNATIONAL JOURNAL OF CANCER. 1994;56(3):354-357

  CHROMOSOMAL DELETIONS IN ANAPLASTIC MENINGIOMAS SUGGEST MULTIPLE REGIONS OUTSIDE CHROMOSOME-22 AS IMPORTANT IN TUMOR PROGRESSION

  LINDBLOM A; RUTTLEDGE M; COLLINS VP; NORDENSKOLD M; DUMANSKI JP
• Conference publication: COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY. 1994;59:331-338

  HUMAN MISMATCH REPAIR GENES AND THEIR ASSOCIATION WITH HEREDITARY NONPOLYPOSIS COLON-CANCER

  KOLODNER RD; HALL NR; LIPFORD J; KANE MF; RAO MRS; MORRISON P; WIRTH L; FINAN PJ; BURN J; CHAPMAN P; EARABINO C; MERCHANT E; BISHOP DT; GARBER J; BRONNER CE; BAKER SM; WARREN G; SMITH LG; LINDBLOM A; TANNERGARD P; BOLLAG RJ; GODWIN AR; WARD DC; NORDENSKJOLD M; LISKAY RM; COPELAND N; JENKINS N; LESCOE MK; EWEL A; LEE S; GRIFFITH J; FISHEL R
• Journal article: NATURE GENETICS. 1993;5(3):279-282

  GENETIC-MAPPING OF A 2ND LOCUS PREDISPOSING TO HEREDITARY NONPOLYPOSIS COLON-CANCER

  LINDBLOM A; TANNERGARD P; WERELIUS B; NORDENSKJOLD M
• Journal article: CANCER RESEARCH. 1993;53(18):4356-4361

  LOSS OF HETEROZYGOSITY IN FAMILIAL BREAST CARCINOMAS

  LINDBLOM A; SKOOG L; ROTSTEIN S; WERELIUS B; LARSSON C; NORDENSKJOLD M
• Journal article: CANCER RESEARCH. 1993;53(16):3707-3711

  DELETIONS ON CHROMOSOME-16 IN PRIMARY FAMILIAL BREAST CARCINOMAS ARE ASSOCIATED WITH DEVELOPMENT OF DISTANT METASTASES

  LINDBLOM A; ROTSTEIN S; SKOOG L; NORDENSKJOLD M; LARSSON C
• Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 1993;52(4):749-753

  LINKAGE ANALYSIS WITH MARKERS ON 17Q IN 29 SWEDISH BREAST-CANCER FAMILIES

  LINDBLOM A; ROTSTEIN S; NORDENSKJOLD M; LARSSON C
• Journal article: HUMAN GENETICS. 1993;91(1):6-12

  4 SEPARATE REGIONS ON CHROMOSOME-17 SHOW LOSS OF HETEROZYGOSITY IN FAMILIAL BREAST CARCINOMAS

  LINDBLOM A; SKOOG L; ANDERSEN TI; ROTSTEIN S; NORDENSKJOLD M; LARSSON C
• Journal article: BREAST CANCER RESEARCH AND TREATMENT. 1992;24(2):159-165

  HEREDITARY BREAST-CANCER IN SWEDEN - A PREDOMINANCE OF MATERNALLY INHERITED CASES

  LINDBLOM A; ROTSTEIN S; LARSSON C; NORDENSKJOLD M; ISELIUS L
• Conference publication: AMERICAN JOURNAL OF HUMAN GENETICS. 1991;49(4):122

  FAMILIALITY IN BREAST-CANCER IN A SWEDISH POPULATION

  LINDBLOM A
• Journal article: LAKARTIDNINGEN. 1990;87(45):3775-3778

  [Families with hereditary cancer--a target group for prevention].

  Lindblom A; Nordenskjöld M
• Visa fler