Kristina Lagerstedt

Publications
Public outreach and news

Articles

Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2024;194(12):e63812
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
Maya-Gonzalez C; Delgado-Vega AM; Taylan F; Robinson KL; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; De Stahl TD; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Article: 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; Bilgrav Saether K; Höijer 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; Hammarsjö A; Hammond CK; Hatirnaz Ng Ö; Hesketh S; Hettiarachchi D; Johansson Soller M; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Lysenkova Wiklander M; Makay P; Maiga AB; Maya-González C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjö S; Ottosson J; Ozbek U; Özdemir Ö; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; Posada de la Paz M; 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; Tümer Z; van Zelst-Stams WAG; Verloes A; Västerviga E; Wang S; Yang R; Yamamoto S; Yépez 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: JOURNAL OF INTERNAL MEDICINE. 2024;296(3):234-248
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Soderhall C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
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: THE 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: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(3):333-341
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson J; Lideus S; Frykholm C; Gunnarsson C; Mihalic F; Gudmundsson S; Ekvall S; Molin A-M; Pham M; Vihinen M; Lagerstedt-Robinson K; Nordgren A; Jemth P; Ameur A; Anneren G; Wilbe M; Bondeson M-L
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
Nordenskjold A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023;451:120707
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders
Paucar M; Laffita-Mesa J; Niemela V; Malmgren H; Nennesmo I; Lagerstedt-Robinson K; Nordenskjold M; Svenningsson P
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: 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
Article: THE LANCET ONCOLOGY. 2023;24(1):91-106
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
Garcia-Pelaez J; Barbosa-Matos R; Lobo S; Dias A; Garrido L; Castedo S; Sousa S; Pinheiro H; Sousa L; Monteiro R; Maqueda JJ; Fernandes S; Carneiro F; Pinto N; Lemos C; Pinto C; Teixeira MR; Aretz S; Bajalica-Lagercrantz S; Balmana J; Blatnik A; Benusiglio PR; Blanluet M; Bours V; Brems H; Brunet J; Calistri D; Capella G; Carrera S; Colas C; Dahan K; de Putter R; Desseignes C; Dominguez-Garrido E; Egas C; Evans DG; Feret D; Fewings E; Fitzgerald RC; Coulet F; Garcia-Barcina M; Genuardi M; Golmard L; Hackmann K; Hanson H; Holinski-Feder E; Huneburg R; Krajc M; Lagerstedt-Robinson K; Lazaro C; Ligtenberg MJL; Martinez-Bouzas C; Merino S; Michils G; Novakovic S; Patino-Garcia A; Ranzani GN; Schrock E; Silva I; Silveira C; Soto JL; Spier I; Steinke-Lange V; Tedaldi G; Tejada M-I; Woodward ER; Tischkowitz M; Hoogerbrugge N; Oliveira C
Article: FRONTIERS IN MEDICINE. 2023;10:1172565
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
Maya-Gonzalez C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergardh R; De Stahl TD; Hoybye C; Tettamanti G; Delgado-Vega AM; Skarin Nordenvall A; Nordgren A
Article: ENDOCRINE CONNECTIONS. 2022;11(12):e220367
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Persani L; Cools M; Ioakim S; Ahmed SF; Andonova S; Avbelj-Stefanija M; Baronio F; Bouligand J; Bruggenwirth HT; Davies JH; De Baere E; Dzivite-Krisane I; Fernandez-Alvarez P; Gheldof A; Giavoli C; Gravholt CH; Hiort O; Holterhus P-M; Juul A; Krausz C; Lagerstedt-Robinson K; McGowan R; Neumann U; Novelli A; Peyrassol X; Phylactou LA; Rohayem J; Touraine P; Westra D; Vezzoli V; Rossetti R
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
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: GENES CHROMOSOMES AND CANCER. 2022;61(10):585-591
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
Svensson S; Zagoras T; Aravidis C; Askmalm MS; Bjorck E; Borg A; Kuchinskaya E; Nilbert M; Nordling M; Rohlin A; Silander G; Lagerstedt-Robinson K; Gebre-Medhin S
Article: HUMAN MUTATION. 2022;43(6):708-716
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim 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 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: EAR AND HEARING. 2022;43(1):53-69
X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
Smeds H; Wales J; Karltorp E; Anderlid B-M; Henricson C; Asp F; Anmyr L; Lagerstedt-Robinson K; Lofkvist U
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: 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: 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: 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: THE LANCET ONCOLOGY. 2021;22(7):1014-1022
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Jenkins MA
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: 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: 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: 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: GENES CHROMOSOMES AND 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: GENETIC TESTING AND MOLECULAR BIOMARKERS. 2019;23(9):688-695
Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.
Okkels H; Lagerstedt-Robinsson K; Wikman FP; Hansen TVO; Lolas I; Lindberg LJ; Krarup HB
Article: NEUROLOGY: GENETICS. 2019;5(4):e344
Altered CSF levels of monoamines in hereditary spastic paraparesis 10 A case series
Andreasson M; Lagerstedt-Robinson K; Samuelsson K; Solders G; Blennow K; Paucar M; Svenningsson P
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: CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION. 2019;28(6):1010-1014
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
ten Broeke SW; Rodriguez-Girondo M; Suerink M; Aretz S; Bernstein I; Capella G; Engel C; Gomez-Garcia EB; van Hest LP; Doeberitz MVK; Lagerstedt-Robinson K; Letteboer TGW; Moller P; van Os TA; Pineda M; Rahner N; Olderode-Berends MJW; von Salome J; Schackert HK; Spruijt L; Steinke-Lange V; Wagner A; Tops CMJ; Nielsen M
Article: NATURE COMMUNICATIONS. 2019;10(1):1396
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olive M; Engvall M; Ravenscroft G; Cabrera-Serrano M; Jiao H; Bortolotti CA; Pignataro M; Lambrughi M; Jiang H; Forrest ARR; Benseny-Cases N; Hofbauer S; Obinger C; Battistuzzi G; Bellei M; Borsari M; Di Rocco G; Viola HM; Hoo LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Jose Baiges J; Malfatti E; Romero NB; Streichenberger N; Via C; Claeys KG; Straathof CSM; Goris A; Freyer C; Lammens M; Bassez G; Kere J; Clemente P; Sejersen T; Udd B; Vidal N; Ferrer I; Edstrom L; Wedell A; Laing NG
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
Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2018;60(12):1251-1255
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
Danielsson A; Anderlid B-M; Stodberg T; Lagerstedt-Robinson K; Arrhenius EK; Tedroff K
Article: CLINICAL GENETICS. 2018;94(6):528-537
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjoeld M; Nordgren A; Lundberg ES
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
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: 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: 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: 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: GENOME MEDICINE. 2015;7:130
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi B; Lagerstedt-Robinson K; Chiang SCC; Ben Bdira E; Abboud M; Belen B; Devecioglu O; Fadoo Z; Yeoh AEJ; Erichsen HC; Mottonen M; Akar HH; Hastbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjold M; Bryceson YT
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2014;22(8):1002-1011
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
Navarro CL; Esteves-Vieira V; Courrier S; Boyer A; Thuy DN; Le TTH; Meinke P; Schroeder W; Cormier-Daire V; Sznajer Y; Amor DJ; Lagerstedt K; Biervliet M; van den Akker PC; Cau P; Roll P; Levy N; Badens C; Wehnert M; De Sandre-Giovannoli A
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: NATURE GENETICS. 2014;46(2):107-115
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Thompson BA; Spurdle AB; Plazzer J-P; Greenblatt MS; Akagi K; Al-Mulla F; Bapat B; Bernstein I; Capella G; den Dunnen JT; du Sart D; Fabre A; Farrell MP; Farrington SM; Frayling IM; Frebourg T; Goldgar DE; Heinen CD; Holinski-Feder E; Kohonen-Corish M; Robinson KL; Leung SY; Martins A; Moller P; Morak M; Nystrom M; Peltomaki P; Pineda M; Qi M; Ramesar R; Rasmussen LJ; Royer-Pokora B; Scott RJ; Sijmons R; Tavtigian SV; Tops CM; Weber T; Wijnen J; Woods MO; Macrae F; Genuardi M
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: JOURNAL OF EXPERIMENTAL MEDICINE (JEM). 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: 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: HUMAN MUTATION. 2013;34(1):237-247
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Bisschoff IJ; Zeschnigk C; Horn D; Wellek B; Riess A; Wessels M; Willems P; Jensen P; Busche A; Bekkebraten J; Chopra M; Hove HD; Evers C; Heimdal K; Kaiser A-S; Kunstmann E; Robinson KL; Linne M; Martin P; McGrath J; Pradel W; Prescott KE; Roesler B; Rudolf G; Siebers-Renelt U; Tyshchenko N; Wieczorek D; Wolff G; Dobyns WB; Morris-Rosendahl DJ
Article: PLOS ONE. 2013;8(12):e80114
GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment
Engman M; Varghese S; Robinson KL; Malmgren H; Hammarsjo A; Bystrom B; Lalitkumar PGL; Gemzell-Danielsson K
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2012;158(3):363-369
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
Carlsson G; Fasth A; Berglof E; Lagerstedt-Robinson K; Nordenskjold M; Palmblad J; Henter J-I; Fadeel B
Article: INTERNATIONAL JOURNAL OF ENDOCRINOLOGY. 2012;2012:504904-7
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
Barbaro M; Cook J; Lagerstedt-Robinson K; Wedell A
Article: HUMAN MUTATION. 2010;31(11):1205-1215
Leiden Open Variation Database of the MUTYH Gene
Out AA; Tops CMJ; Nielsen M; Weiss MM; van Minderhout IJHM; Fokkema IFAC; Buisine M-P; Claes K; Colas C; Fodde R; Fostira F; Franken PF; Gaustadnes M; Heinimann K; Hodgson SV; Hogervorst FBL; Holinski-Feder E; Lagerstedt-Robinson K; Olschwang S; van den Ouweland AMW; Redeker EJW; Scott RJ; Vankeirsbilck B; Gronlund RV; Wijnen JT; Wikman FP; Aretz S; Sampson JR; Devilee P; den Dunnen JT; Hes FJ
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(8):872-880
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Hoornaert KP; Vereecke I; Dewinter C; Rosenberg T; Beemer FA; Leroy JG; Bendix L; Bjorck E; Bonduelle M; Boute O; Cormier-Daire V; De Die-Smulders C; Dieux-Coeslier A; Dollfus H; Elting M; Green A; Guerci VI; Hennekam RCM; Hilhorts-Hofstee Y; Holder M; Hoyng C; Jones KJ; Josifova D; Kaitila I; Kjaergaard S; Kroes YH; Lagerstedt K; Lees M; LeMerrer M; Magnani C; Marcelis C; Martorell L; Mathieu M; McEntagart M; Mendicino A; Morton J; Orazio G; Paquis V; Reish O; Simola KOJ; Smithson SF; Temple KI; Van Aken E; Van Bever Y; van den Ende J; Van Hagen JM; Zelante L; Zordania R; De Paepe A; Leroy BP; De Buyzere M; Coucke PJ; Mortier GR
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(3):122-126
Mutational study of the MAMLD1-gene in hypospadias
Chen Y; Thai HTT; Lundin J; Lagerstedt-Robinson K; Zhao S; Markljung E; Nordenskjold A
Article: JOURNAL OF HUMAN GENETICS. 2009;54(12):706-708
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Lagerstedt-Robinson K; Svenningsson A; Nordenskjold A
Article: ACTA OPHTHALMOLOGICA. 2009;87(6):659-665
Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis
Hammar B; Bjorck E; Lind H; Lagerstedt K; Dellby A; Fagerholm P
Article: ACTA OPHTHALMOLOGICA. 2008;86(7):758-763
A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
Hammar B; Bjorck E; Lagerstedt K; Dellby A; Fagerholm P
Article: HUMAN GENETICS. 2008;124(2):155-160
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Thai HTT; Soderhall C; Lagerstedt K; Omrani MD; Frisen L; Lundin J; Kockum I; Nordenskjold A
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: CLINICAL GENETICS. 2008;74(1):61-67
Concurrent microdeletion and duplication of 22q11.2
Blennow E; Lagerstedt K; Malmgren H; Sahlen S; Schoumans J; Anderlid BM
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: 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 PEDIATRIC SURGERY. 2008;43(3):443-446
Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
Svenningsson A; Lagerstedt K; Omrani MD; Nordenskjold A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(4):405-410
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
Beleza-Meireles A; Lundberg F; Lagerstedt K; Zhou X; Omrani D; Frisen L; Nordenskjold A
Journal article: JOURNAL OF PEDIATRIC UROLOGY. 2007;3:s48
Polymorphisms of estrogen receptor beta gene are associated with hypospadias
Nordenskjöld A; Meireles AB; Omrani D; Kockum I; Frisén L; Lagerstedt K
Article: 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: 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: CANCER EPIDEMIOLOGY, BIOMARKERS AND 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 ENDOCRINOLOGICAL INVESTIGATION. 2006;29(1):5-10
Polymorphisms of estrogen receptor β gene are associated with hypospadias
Beleza-Meireles A; Omrani D; Kockum I; Frisén L; Lagerstedt K; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2005;90(12):6695-6698
The valine allele of the V89L polymorphism in the 5-α-reductase gene confers a reduced risk for hypospadias
Thai HTT; Kalbasi M; Lagerstedt K; Frisén L; Kockum I; Nordenskjöld A
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: 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 S; Lindblom A; Peltomaki P; Yamamoto H; Aaltonen LA; Seruca R; Hofstra RMW
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: JOURNAL OF MEDICAL GENETICS. 2003;40(4):e49-49
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome -: art. no. e49
Frisén L; Lagerstedt K; Tapper-Persson M; Kockum I; Nordenskjöld A
Article: HUMAN MUTATION. 2000;15(4):324-331
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII):: Identification of a fusion transcript including sequences from the gene W and the IDS gene
Lagerstedt K; Carlberg BM; Karimi-Nejad R; Kleijer WJ; Bondeson ML
Article: GENOMICS. 1997;43(2):123-129
Two distinct deletions in the IDS gene and the gene W: A novel type of mutation associated with the Hunter syndrome
Karsten SL; Lagerstedt K; Carlberg BM; Kleijer WJ; Zaremba J; VanDiggelen OP; Czartoryska B; Pettersson U; Bondeson ML
Article: HUMAN MOLECULAR GENETICS. 1997;6(4):627-633
Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Lagerstedt K; Karsten SL; Carlberg BM; Kleijer WJ; Tonnesen T; Pettersson U; Bondeson ML
Article: HUMAN MOLECULAR GENETICS. 1997;6(3):479-486
Molecular and phenotypic variation in patients with severe Hunter syndrome
Timms KM; Bondeson ML; AnsariLari MA; Lagerstedt K; Muzny DM; DuganRocha SP; Nelson DL; Pettersson U; Gibbs RA
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Letter: CLINICAL CHEMISTRY. 2024;70(9):1185-1187
Atypical Interference in Hb A_1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants
Stralfors A; Lagerstedt-Robinson K; Landin B
Editorial comment: 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
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:524-525
Imprinting relaxation of an ovarian dysgerminoma in a patient with Prader-Willi syndrome
Gonzalez CM; Wessman S; Tesi B; Taylan F; McCluggage G; Kuchinskaya E; Poluha A; Holm S; Nargard R; de Stahl TD; Nord DG; Lagerstedt K; Nordgren A
Editorial comment: NEUROLOGY: GENETICS. 2021;7(6):e625
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections
Hussein D; Olsson C; Lagerstedt-Robinson K; Moreira T
Editorial comment: 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
Editorial comment: NEUROLOGY: GENETICS. 2020;6(4):e474
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
Paucar M; Granberg T; Lagerstedt-Robinson K; Waldenlind E; Petersson S; Nordin L; Svenningsson P
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Nilsson D; Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Lindstrand A
Conference publication: MOLECULAR CYTOGENETICS. 2019;12
From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Nilsson D; Lindstrand A
Editorial comment: NEUROLOGY. 2018;91(15):710-712
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
Paucar M; Pajak A; Freyer C; Bergendal A; Dory M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P
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
Editorial comment: CLINICAL GENETICS. 2012;82(2):197-200
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia
Aminoff A; Gunnar E; Barbaro M; Mannila MN; Duponchel C; Tosi M; Robinson KL; Hernell O; Ehrenborg E
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2009;147(4):587-590
Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy
Lunden L; Boxhammer S; Carlsson G; Ellstrom K-G; Nordenskjold M; Lagerstedt-Robinson K; Fadeel B
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
Conference publication: INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE. 2004;45:U571
Recurrent corneal erosions - studies of an autosomal dominant inherited corneal dystrophy
Hammar B; Lind H; Bjorck E; Lagerstedt K; Dellby A; Nordenskjold M; Fagerholm P
Conference publication: INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE. 2004;45:U571
Inherited recurrent corneal erosions -: a large family with an autosomal dominant inherited disorder
Fagerholm P; Hammar B; Bjorck E; Dellby A; Lagerstedt K; Nordenskjöld M

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