Publications for Emma Tham

Article

1 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. A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients. Scientific reports 2021 11:1 14763-
2 Wallander K, Eisfeldt J, Lindblad M, Nilsson D, Billiau K, Foroughi H, Nordenskjöld M, Liedén A, Tham E. Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients. PloS one 2021 16:2 e0245488-
3 Grahn A, Eisfeldt J, Malm C, Foroughi Asl H, Jaremko G, Tham E, Brehmer M. Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma. BJU international 2021 :
4 Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, 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 AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome medicine 2021 13:1 40-
5 Kho PF, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Brinton L, Buchanan DD, Chanock SJ, Chen C, Chen MEM, Cheng THT, Cook LS, Crous-Bous M, Czene K, De Vivo I, Dennis J, Dork T, Dowdy SC, Dunning AM, Durst 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 XL, Lindblom A, Lissowska J, Long JR, Lu LE, 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, Rubner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah MT, Sheng X, Shu XO, Southey MC, Tham E, Tomlinson I, Trovik J, Turman C, Tyrer JP, van den Berg D, Wang ZM, Wentzensen N, Xia L, Xiang YB, Yang HNP, Yu HR, Zheng W, Webb PM, Thompson DJ, Spurdle AB, Glubb DM, O'Mara TA. Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer. INTERNATIONAL JOURNAL OF CANCER 2021 148:2 307-319
6 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 ZJ, 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. Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2020 22:5 857-866
7 Andersson A, Hawranek C, Ofverholm A, Ehrencrona H, Grill K, Hajdarevic S, Melin B, Tham E, Hellquist BN, Rosen A. Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden. HEREDITARY CANCER IN CLINICAL PRACTICE 2020 18:1 18-
8 Thutkawkorapin J, Eisfeldt J, Tham E, Nilsson D. pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing. BMC BIOINFORMATICS 2020 21:1 128-
9 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. TheMLH1polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability. CLINICAL EPIGENETICS 2020 12:1 102-
10 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, Eon-Marchais S, Fostira F, 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, 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, ENIGMA Consortium, GENESIS Study Collaborators, SWE-BRCA Group. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Cancers 2020 12:2
11 Omran M, Blomqvist L, Brandberg Y, Pal N, Kogner P, Ståhlbom AK, Tham E, Bajalica-Lagercrantz S. Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53. Hereditary cancer in clinical practice 2020 18: 1-
12 Paulsson JO, Backman S, Wang N, Stenman A, Crona J, Thutkawkorapin J, Ghaderi M, Tham E, Stalberg P, Zedenius J, Juhlin CC. Whole-genome sequencing of synchronous thyroid carcinomas identifies aberrant DNA repair in thyroid cancer dedifferentiation. JOURNAL OF PATHOLOGY 2020 250:2 183-194
13 Vos JR, Giepmans L, Rohl 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, Lagercrantz SB, 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, ERN GENTURIS. Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. FAMILIAL CANCER 2019 18:2 281-284
14 Thutkawkorapin J, Lindblom A, Tham E. Exome sequencing in 51 early onset non-familial CRC cases. Molecular genetics & genomic medicine 2019 7:5 e605-
15 Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, 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. 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. GENOME MEDICINE 2019 11:1 68-
16 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. Functional characterization of novel germline TP53 variants in Swedish families. CLINICAL GENETICS 2019 96:3 216-225
17 Juhlin CC, Nilsson IL, Lagerstedt-Robinson K, Stenman A, Bränström R, Tham E, Höög A. Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 32:8 1082-1094
18 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. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 2018 39:10 1456-1467
19 Ferreira CR, Xia ZJ, 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, 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, Scottish Genome Partnership, Undiagnosed Diseases Network. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American journal of human genetics 2018 103:4 553-567
20 Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families. Hereditary cancer in clinical practice 2018 16: 16-
21 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. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018 33:4 753-760
22 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. Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. Cancer medicine 2018 7:5 1978-1987
23 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 XO, 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 YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature communications 2018 9:1 3166-
24 Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. Journal of human genetics 2017 62:4 503-506
25 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. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. European journal of human genetics : EJHG 2016 24:2 198-207
26 Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Autosomal recessive brachyolmia: early radiological findings. Skeletal radiology 2016 45:11 1557-60
27 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, 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 HM, 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 KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB, Australian National Endometrial Cancer Study Group (ANECS), for RENDOCAS, National Study of Endometrial Cancer Genetics Group (NSECG), AOCS Group. CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-related cancer 2016 23:2 77-91
28 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, 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, 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, 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, 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, National Study of Endometrial Cancer Genetics Group (NSECG), AOCS Group, Australian National Endometrial Cancer Study Group (ANECS), RENDOCAS. Five endometrial cancer risk loci identified through genome-wide association analysis. Nature genetics 2016 48:6 667-674
29 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 HM, 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 PD, Tomlinson I, Dunning AM, Easton DF, Thompson DJ, Spurdle AB, National Study of Endometrial Cancer Genetics Group (NSECG), AOCS Group, for RENDOCAS, Australian National Endometrial Cancer Study Group (ANECS). Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 25:11 1503-1510
30 Paucar M, Engvall M, Gordon L, Tham E, Synofzik M, Svenningsson P. POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome. Cerebellum (London, England) 2016 15:5 632-5
31 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, Dork T, Hillemanns P, Durst 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, Wersall O, Mints M, Tham E, Hall P, Czene K, Liu JJ, Li JM, 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 AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen ZH, Shah M, Pharoah PDP, Dunning AM, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ, AOCS, NSECG, ANECS, RENDOCAS, GENICA Network. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. HUMAN GENETICS 2015 134:2 231-45
32 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, 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 HM, 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 PD, Dunning AM, Tomlinson I, Easton DF, Thompson DJ, Spurdle AB, Australian National Endometrial Cancer Study Group (ANECS), National Study of Endometrial Cancer Genetics Group (NSECG), AOCS Group, RENDOCAS. Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-related cancer 2015 22:5 851-61
33 Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. American journal of human genetics 2015 96:3 507-13
34 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, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB, 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 HM, 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, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB, CHIBCHA Consortium, National Study of Endometrial Cancer Genetics Group (NSECG), Australian Ovarian Cancer Study (AOCS), Australian National Endometrial Cancer Study Group (ANECS), GENICA Network, RENDOCAS. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human molecular genetics 2015 24:5 1478-92
35 Cheng TH, 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 HM, 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. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific reports 2015 5: 17369-
36 Tzortzatos G, Aravidis C, Lindblom A, Mints M, Tham E. Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. ONCOLOGY LETTERS 2015 9:4 1782-1786
37 Tzortzatos G, Andersson E, Soller M, Askmalm MS, Zagoras T, Georgii-Hemming P, Lindblom A, Tham E, Mints M. The gynecological surveillance of women with Lynch syndrome in Sweden. Gynecologic oncology 2015 138:3 717-22
38 Tzortzatos G, Wersäll O, Danielsson KG, Lindblom A, Tham E, Mints M. Familial cancer among consecutive uterine cancer patients in Sweden. Hereditary cancer in clinical practice 2014 12:1 14-
39 de Laat JM, Tham E, Pieterman CRC, Vriens MR, Dorresteijn JAN, Bots ML, Nordenskjold M, van der Luijt RB, Valk GD. Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. EUROPEAN JOURNAL OF ENDOCRINOLOGY 2012 167:2 181-7
40 Iacobaeus E, Amoudruz P, Strom M, Khademi M, Brundin L, Hillert J, Kockum I, Malmstrom V, Olsson T, Tham E, Piehl F. The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis. PLOS ONE 2011 6:5 e19138-
41 Tham E. Gene symbol: MEN1. Disease: Multiple endocrine neoplasia type 1. Human genetics 2008 123:5 553-
42 Grundtman C, Tham E, Ulfgren AK, Lundberg IE. Vascular Endothelial Growth Factor Is Highly Expressed in Muscle Tissue of Patients With Polymyositis and Patients With Dermatomyositis. ARTHRITIS AND RHEUMATISM 2008 58:10 3224-38
43 Tham E, Grandell U, Lindgren E, Toss G, Skogseid B, Nordenskjold M. Clinical testing for mutations in the MEN1 gene in Sweden: A report on 200 unrelated cases. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2007 92:9 3389-95
44 Tham E, Gielen AW, Khademi M, Martin C, Piehl F. Decreased expression of VEGF-A in rat experimental autoimmune encephalomyelitis and in cerebrospinal fluid mononuclear cells from patients with multiple sclerosis. SCANDINAVIAN JOURNAL OF IMMUNOLOGY 2006 64:6 609-22
45 Heilborn JD, Nilsson MF, Jimenez CIC, Sandstedt B, Borregaard N, Tham E, Sorensen OE, Weber G, Stahle M. Antimicrobial protein hCAP18/LL-37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells. INTERNATIONAL JOURNAL OF CANCER 2005 114:5 713-9
46 Tham E, Wang JM, Piehl F, Weber G. Upregulation of VEGF-A without angiogenesis in a mouse model of dilated cardiomyopathy caused by mitochondrial dysfunction. JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY 2002 50:7 935-44
47 Kedra D, Carson E, Weber G, Lagercrantz J. A sequence highly similar to PNG is located on chromosome 22q12 in intron 15 of the LIMK-2 gene. BIOCHEMISTRY AND MOLECULAR BIOLOGY INTERNATIONAL 1998 44:3 589-94
48 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. Expression and chromosomal localization of the Requiem gene. MAMMALIAN GENOME 1998 9:8 660-5
49 Weber G, Grimmond S, Lagercrantz J, Friedman E, Phelan C, Carson E, Hayward N, Jacobovitz O, Nordenskjold M, Larsson C. Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1. HUMAN GENETICS 1997 99:1 130-2
50 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. Cloning and characterization of a novel human gene related to vascular endothelial growth factor. GENOME RESEARCH 1996 6:2 124-31
51 Lagercrantz J, Carson E, Larsson C, Nordenskjold M, Weber G. Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13. GENOMICS 1996 31:3 380-4
52 Lagercrantz J, Kedra D, Carson E, Nordenskjold M, Dumanski JP, Weber G, Piehl F. Sequence and expression of the mouse homologue to human phospholipase C beta 3 neighboring gene. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 1996 223:2 335-40
53 DeMarco L, Stratakis CA, Boson WL, Jakbovitz O, Carson E, Andrade LM, Amaral VF, Rocha JL, Choursos GP, Nordenskjold M, Friedman E. Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene. HUMAN GENETICS 1996 98:2 185-8
54 LAGERCRANTZ J, LARSSON C, GRIMMOND S, SKOGSEID B, GOBL A, FRIEDMAN E, CARSON E, PHELAN C, OBERG K, NORDENSKJOLD M, HAYWARD NK, WEBER G. CANDIDATE GENES FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-1. JOURNAL OF INTERNAL MEDICINE 1995 238:3 245-8
55 LAGERCRANTZ J, CARSON E, PHELAN C, GRIMMOND S, ROSEN A, DARE E, NORDENSKJOLD M, HAYWARD NK, LARSSON C, WEBER G. GENOMIC ORGANIZATION AND COMPLETE CDNA SEQUENCE OF THE HUMAN PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE-C BETA-3 GENE (PLCB3). GENOMICS 1995 26:3 467-72

Review

1 Barbany G, Arthur C, Liedén A, Nordenskjöld M, Rosenquist R, Tesi B, Wallander K, Tham E. Cell-free tumour DNA testing for early detection of cancer - a potential future tool. Journal of internal medicine 2019 286:2 118-136
2 Marcuello M, Vymetalkova V, Neves RPL, Duran-Sanchon S, Vedeld HM, Tham E, van Dalum G, Flugen G, Garcia-Barberan V, Fijneman RJ, Castells A, Vodicka P, Lind GE, Stoecklein NH, Heitzer E, Gironella M. Circulating biomarkers for early detection and clinical management of colorectal cancer. MOLECULAR ASPECTS OF MEDICINE 2019 69: 107-122
3 Muth A, Crona J, Gimm O, Elmgren A, Filipsson K, Stenmark Askmalm M, Sandstedt J, Tengvar M, Tham E. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma. Journal of internal medicine 2019 285:2 187-204
4 Sultana T, Svechnikov KV, Gustafsson K, Wahlgren A, Tham E, Weber G, Soder O. Molecular identity, expression and functional analysis of interleukin-1 alpha and its isoforms in rat testis. ASIAN JOURNAL OF ANDROLOGY 2004 6:2 149-53

Letter

1 Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G. Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018 33:7 1377-1378
2 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. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clinical genetics 2015 87:5 496-8

Other

1 Grundtman C, Dastmalchi M, Tham E, Borg K, Ulfgren AK, Lundberg IE. Vascular Endothelium Growth Factor (VEGF) is highly expressed in inflamed muscle tissue of patients with polymyositis and dermatomyositis. NEUROMUSCULAR DISORDERS 2006 16: S167-S167