Emma Tham

About me
Publications
CV
Public outreach and news

About me

I am Associate Professor (Docent) at MMK, KI, team leader of the "Multi-omics analyses in cancer" team which is part of the Clinical Genetics group.

I am also a Senior Consultant in Clinical Genetics at Karolinska University Hospital . At the clinic, I meet patients with hereditary cancer and at our clinical laboratory, I analyse constitutional variants in whole genome sequencing as well as somatic genetic alterations in haematological malignancies.

Research

*Research projects:*
(1) Multi-omics analyses of liquid biopsies as a minimally invasive biopsy for diagnosis, prognosis and monitoring in adults and children with cancer
and other conditions.
(2) Hereditary Cancer: Multi-omics analyses for improvement of diagnostics of hereditary cancer as well as characterisation of clinical phenotype and evaluation of surveillance in rare hereditary cancer syndromes

Teaching

Teacher for medical, biomedical and Ph.D. students at KI
Previous Director of Studies for residents in Clinical Genetics at Karolinska University Hospital

Articles

Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
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: BJU INTERNATIONAL. 2024
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
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: 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: 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: 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
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: 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
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
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
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
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
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
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
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: 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
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: 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: 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: 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
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: 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: 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
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: 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: 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: 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: 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
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: 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: 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
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: 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
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: 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: 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: 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: CANCERS. 2020;12(2):E292-292
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Figlioli G; Kvist A; Tham E; Soukupova J; Kleiblova P; Muranen TA; Andrieu N; Azzollini J; Balmana J; Barroso A; Benitez J; Bertelsen B; Blanco A; Bonanni B; Borg A; Brunet J; Calistri D; Calvello M; Chvojka S; Cortesi L; Darder E; Del Valle J; Diez O; Eon-Marchais S; Fostira F; Gensini F; Houdayer C; Janatova M; Kiiski JI; Konstantopoulou I; Kubelka-Sabit K; Lazaro C; Lesueur F; Manoukian S; Marcinkute R; Mickys U; Moncoutier V; Myszka A; Tu N-D; Nielsen FC; Norvilas R; Olah E; Osorio A; Papi L; Peissel B; Peixoto A; Plaseska-Karanfilska D; Pocza T; Rossing M; Rudaitis V; Santamarina M; Santos C; Smichkoska S; Southey MC; Stoppa-Lyonnet D; Teixeira M; Torngren T; Toss A; Urioste M; Vega A; Vlckova Z; Yannoukakos D; Zampiga V; Kleibl Z; Radice P; Nevanlinna H; Ehrencrona H; Janavicius R; Peterlongo P
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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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 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
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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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
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
Article: HUMAN GENETICS. 2008;123(5):553
Gene symbol: MEN1. Disease: Multiple endocrine neoplasia type 1.
Tham E
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: 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
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 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
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: 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: 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: 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: 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: 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: 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
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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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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
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
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
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
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
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: 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
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
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: 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
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
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
Doctoral thesis: 2006
From gene mutation to gene expression : studies on multiple endocrine neoplasia type 1 and vascular endothelial growth factors
Tham, Emma
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
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Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2023-2026

Degrees and Education

Docent, Karolinska Institutet, 2022
European Certificate in Medical Genetics and Genomics, Medical Genetics and Genomics, Section of Medical Genetics, European Union of Medical Specialists, 2021
Consultant, Clinical Genetics, Karolinska University Hospital, 2014
Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2006
University Medical Degree, Karolinska Institutet, 1999

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