Emma Tham

Om mig
Publikationer
CV
Populärvetenskap och samverkan

Om mig

Jag är docent vid MMK, KI, där jag är team leader for "Multi-omics analyses vid cancer" som är del av Klinisk Genetik-gruppen.

Jag är också överläkare på Klinisk Genetik vid Karolinska Universitetssjukhuset. På kliniken träffar jag framförallt patienter med ärftlig cancer och på
vårt kliniska laboratorium analyserar jag konstitutionella genetiska avvikelser med helgenomsekvensering samt somatiska genetiska aberrationer vid
hematologiska maligniteter.

Forskningsbeskrivning

(1) Multi-omics analyser av vätskebiopsier för minimalt invasivt diagnostik, prognos och uppföljning av vuxna och barn med cancer och andra tillstånd.
(2) Ärftlig cancer: Multi-omics analyser för förbättrad diagnostik av ärftlig cancer forskning samt kartläggning av den kliniska fenotypen och utvärdering av kontrollprogram vid sällsynta hereditära tumörsyndrom.

Publikationer:
http://bibliometrics.ki.se/public/publicProfile/2566 [1]
[1] http://bibliometrics.ki.se/public/publicProfile/2566

Undervisning

Studierektor för ST-läkare på Klinisk Genetik, Karolinska Universitetssjukhuset
Undervisar (föreläser/seminarier) för läkare, biomedicinare och doktorander på KI

Artiklar

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; Jylhä C; Nordenskjöld 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 Ståhl TD; Jylhä 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; Jylhä C; Axelsson T; Sydén 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; Uhlén 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; Lindelöf H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjö 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.

Öfverholm A; Törngren T; Rosén A; Arver B; Einbeigi Z; Haraldsson K; Ståhlbom AK; Kuchinskaya E; Lindblom A; Melin B; Paulsson-Karlsson Y; Stenmark-Askmalm M; Tham E; von Wachenfeldt A; Kvist A; Borg Å; 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; Jylhä C; de Ståhl TD; Shamikh A; Sandgren J; Rosenquist R; Nordenskjöld 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; Swedish Clinical TP53 Study Group (SweClinTP53)
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; Cuba Gyllensten O; Hägglund M; Wirta V; Nordenskjöld 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.

Bilgrav Saether K; 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; Wästerlid T; Spångberg LD; Rabbani L; Jylhä C; Thorvaldsdottir B; Skaftason A; Awier HN; Krstic A; Gellerbring A; Lyander A; Hägglund 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 DG; 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; PTEN Study Group; 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; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadóttir 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; Johansson Soller M; 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; Crona Guterstam Y; Holzhauser S; Nordenskjöld 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; Ahlström H; Lundgren C; Paulsson-Karlsson Y; Kuchinskaya E; Silander G; Rosén A; Persson F; Leonhardt H; Stenmark-Askmalm M; Berg J; van Westen D; Bajalica-Lagercrantz S; Blomqvist L; the Swedish Clinical TP53 Study Group (SweClinTP53
Article: PLOS ONE. 2022;17(2):e0264056

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Lagerstedt-Robinson K; Baranowska Körberg I; Tsiaprazis S; Björck E; Tham E; Poluha A; Hellström Pigg M; Paulsson-Karlsson Y; Nordenskjöld 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; Nordenskjöld 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; Mielikäinen L; Thutkawkorapin J; Blomqvist C; Jiao X; Ehrencrona H; Tham E; Arver B; Melin B; Kuchinskaya E; Stenmark Askmalm M; Paulsson-Karlsson Y; Einbeigi Z; von Wachenfeldt Väppling A; Kalso E; Tasmuth T; Kallioniemi A; Aittomäki K; Nevanlinna H; Borg Å; 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; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström 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; Dörk T; Dowdy SC; Dunning AM; Dürst M; Easton DF; Ekici AB; Fasching PA; Fridley BL; Friedenreich CM; García-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; Rübner 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; Nordenskjöld M; Liedén 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; Keränen 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; Stålberg 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; Balmaña J; Barroso A; Benítez J; Bertelsen B; Blanco A; Bonanni B; Borg Å; Brunet J; Calistri D; Calvello M; Chvojka S; Cortesi L; Darder E; Del Valle J; Diez O; ENIGMA Consortium; Eon-Marchais S; Fostira F; GENESIS Study Collaborators; Gensini F; Houdayer C; Janatova M; Kiiski JI; Konstantopoulou I; Kubelka-Sabit K; Lázaro C; Lesueur F; Manoukian S; Marcinkute R; Mickys U; Moncoutier V; SWE-BRCA Group; Myszka A; Nguyen-Dumont T; Nielsen FC; Norvilas R; Olah E; Osorio A; Papi L; Peissel B; Peixoto A; Plaseska-Karanfilska D; Pócza T; Rossing M; Rudaitis V; Santamariña M; Santos C; Smichkoska S; Southey MC; Stoppa-Lyonnet D; Teixeira M; Törngren 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

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; Ståhlbom AK; Tham E; Bajalica-Lagercrantz S
Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2020;18:18

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden.

Andersson A; Hawranek C; Öfverholm A; Ehrencrona H; Grill K; Hajdarevic S; Melin B; Tham E; Hellquist BN; Rosén A
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; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld 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; Böhm S; Lain S; Borg Å; 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; Bränström R; Tham E; Höög A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(5):e605

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J; Lindblom A; 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; Röhl C; Geverink N; Hoogerbrugge N; ERN GENTURIS
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; Clément A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sánchez 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; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A; Hammarsjö 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 JA; 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; Hammarsjö 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; Dörk T; Dowdy SC; Dürst M; Ekici AB; Fasching PA; Fridley BL; Friedenreich CM; Fritschi L; Fung J; García-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; Marchand LL; 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; Rübner 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; Rübner M; Hall P; Czene K; Dörk T; Dürst 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; Åström E; Svensson J; Yamamoto GL; Hammarsjö 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 Salomé J; Aravidis C; Silander G; Askmalm MS; Henriksson I; Gebre-Medhin S; Frödin J-E; Björck 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; Rübner M; Czene K; Darabi H; Hall P; Li J; Dörk T; Dürst 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; Njølstad 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 GG; Kristensen VN; Cox A; Pharoah PDP; Tomlinson I; Dunning AM; Easton DF; Thompson DJ; Spurdle AB; AOCS Group; for RENDOCAS; National Study of Endometrial Cancer Genetics Grou; Australian National Endometrial Cancer Study Group
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 TH; Thompson DJ; O'Mara TA; Painter JN; Glubb DM; Flach S; Lewis A; French JD; Freeman-Mills L; Church D; Gorman M; Martin L; National Study of Endometrial Cancer Genetics Grou; Hodgson S; Webb PM; Australian National Endometrial Cancer Study Group; 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; Dörk T; Dürst M; Hillemanns P; Runnebaum I; Amant F; Schrauwen S; Zhao H; Lambrechts D; Depreeuw J; Dowdy SC; Goode EL; Fridley BL; Winham SJ; Njølstad TS; Salvesen HB; Trovik J; Werner HM; Ashton K; Otton G; Proietto T; Liu T; Mints M; Tham E; RENDOCAS; Consortium C; Jun Li M; Yip SH; Wang J; Bolla MK; Michailidou K; Wang Q; Tyrer JP; Dunlop M; Houlston R; Palles C; Hopper JL; AOCS Group; 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: 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; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
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; Australian National Endometrial Cancer Study Group; Gorman M; Martin L; Hodgson S; National Study of Endometrial Cancer Genetics Grou; Michailidou K; Tyrer JP; Maranian MJ; Hall P; Czene K; Darabi H; Li J; Fasching PA; Hein A; Beckmann MW; Ekici AB; Dörk T; Hillemanns P; Dürst 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; for RENDOCAS; Scott RJ; McEvoy M; Attia J; Holliday EG; Montgomery GW; Martin NG; Nyholt DR; Henders AK; Hopper JL; Traficante N; AOCS Group; 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: 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; de Polanco ME; Sans M; Carracedo A; Castellvi-Bel S; Rojas-Martinez A; Aguiar Jnr S; 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; Dörk 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; Australian National Endometrial Cancer Study Group; Attia J; Holliday EG; McEvoy M; Scott RJ; Ashton K; Proietto T; Otton G; Shah M; Ahmed S; Healey CS; Gorman M; Martin L; National Study of Endometrial Cancer Genetics Grou; Hodgson S; Fasching PA; Hein A; Beckmann MW; Ekici AB; Hall P; Czene K; Darabi H; Li J; Dürst M; Runnebaum I; Hillemanns P; Dörk T; Lambrechts D; Depreeuw J; Annibali D; Amant F; Zhao H; Goode EL; Dowdy SC; Fridley BL; Winham SJ; Salvesen HB; Njølstad TS; Trovik J; Werner HMJ; Tham E; Liu T; Mints M; RENDOCAS; Bolla MK; Michailidou K; Tyrer JP; Wang Q; Hopper JL; AOCS Group; 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; National Study of Endometrial Cancer Genetics Grou; CHIBCHA Consortium; De Polanco MME; 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; Australian National Endometrial Cancer Study Group; 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; Dörk T; Hillemanns P; Dürst 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; RENDOCAS; Hall P; Czene K; Liu J; Li J; Hopper JL; Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB; Ruebner M; Johnson N; Peto J; Burwinkel B; Marme F; Brenner H; Dieffenbach AK; Meindl A; Brauch H; GENICA Network; Lindblom A; Depreeuw J; Moisse M; Chang-Claude J; Rudolph A; Couch FJ; Olson JE; Giles GG; Bruinsma F; Cunningham JM; Fridley BL; Børresen-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; National Study of Endometrial Cancer Genetics Grou; Australian National Endometrial Cancer Study Group; Wentzensen N; Fasching PA; Hein A; Beckmann MW; Renner SP; Dörk T; Hillemanns P; Dürst 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; Wersäll O; Mints M; Tham E; RENDOCAS; Hall P; Czene K; Liu J; Li J; Hopper JL; Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB; Ruebner M; Johnson N; Peto J; Burwinkel B; Marme F; Brenner H; Dieffenbach AK; Meindl A; Brauch H; GENICA Network; Lindblom A; Depreeuw J; Moisse M; Chang-Claude J; Rudolph A; Couch FJ; Olson JE; Giles GG; Bruinsma F; Cunningham JM; Fridley BL; Børresen-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; Wersäll 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; Nordenskjöld 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; Ström M; Khademi M; Brundin L; Hillert J; Kockum I; Malmström 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; Nordenskjöld 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; Sørensen 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 J; 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 H; 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; Nordenskjöld 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; Nordenskjöld 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 beta3 neighboring gene.

Lagercrantz J; Kedra D; Carson E; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M
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; Rosén A; Daré E; Nordenskjöld M; Hayward NK; Larsson C; Weber G
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Conference publication: CANCERS. 2024;16(5):568

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; Høberg-Vetti H; Tveit Haavind M; Jørgensen K; Mæhle L; Blatnik A; Brunet J; Darder E; Tham E; Hoogerbrugge N; Vos JR
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; Wästerlid 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; Österborg 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; Crona Guterstam Y; 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

Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.

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; Flügen 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; Liedén A; Nordenskjöld 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; Stenmark Askmalm M; 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; Hammarsjö 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; Hammarsjö A; Armenio M; Mäkitie O; Zabel B; Nordgren A; Nordenskjöld 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
Review: ASIAN JOURNAL OF ANDROLOGY. 2004;6(2):149-153

Molecular identity, expression and functional analysis of interleukin-1alpha and its isoforms in rat testis.

Sultana T; Svechnikov KV; Gustafsson K; Wahlgren A; Tham E; Weber G; Soder O

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2023-2026

Examina och utbildning

Docent, medicinsk genetik, Karolinska Institutet, 2022
European Certificate in Medical Genetics and Genomics, Klinisk Genetik och Genomik, Section of Medical Genetics, European Union of Medical Specialists, 2021
Specialistläkare, Klinisk Genetik, Karolinska University Hospital, 2014
MEDICINE DOKTORSEXAMEN, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2006
Läkarexamen, Karolinska Institutet, 1999

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