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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: stefansson k. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Detection of sharing by descent, long-range phasing and haplotype imputation.
Kong A, Masson G, Frigge ML, Gylfason A, Zusmanovich P, Thorleifsson G, Olason PI, Ingason A, Steinberg S, Rafnar T, Sulem P, Mouy M, Jonsson F, Thorsteinsdottir U, Gudbjartsson DF, Stefansson H, Stefansson K. Kong A, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2008 Sep;40(9):1068-75. doi: 10.1038/ng.216. Nat Genet. 2008. PMID: 19165921 Free PMC article.
Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
Sulem P, Gudbjartsson DF, Geller F, Prokopenko I, Feenstra B, Aben KK, Franke B, den Heijer M, Kovacs P, Stumvoll M, Mägi R, Yanek LR, Becker LC, Boyd HA, Stacey SN, Walters GB, Jonasdottir A, Thorleifsson G, Holm H, Gudjonsson SA, Rafnar T, Björnsdottir G, Becker DM, Melbye M, Kong A, Tönjes A, Thorgeirsson T, Thorsteinsdottir U, Kiemeney LA, Stefansson K. Sulem P, et al. Among authors: stefansson k. Hum Mol Genet. 2011 May 15;20(10):2071-7. doi: 10.1093/hmg/ddr086. Epub 2011 Feb 28. Hum Mol Genet. 2011. PMID: 21357676 Free PMC article.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K. Stacey SN, et al. Among authors: stefansson k. Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403052 Free PMC article.
Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G, Mikaelsdottir E, Palsson R, Indridason OS, Holm H, Jonasdottir A, Helgason A, Sigurdsson S, Jonasdottir A, Sigurdsson A, Eyjolfsson GI, Sigurdardottir O, Magnusson OT, Kong A, Masson G, Sulem P, Olafsson I, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Sveinbjornsson G, et al. Among authors: stefansson k. Hum Mol Genet. 2014 Dec 20;23(25):6935-43. doi: 10.1093/hmg/ddu399. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082825
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium; Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium. Gusev A, et al. Am J Hum Genet. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439723 Free PMC article.
Identification of a large set of rare complete human knockouts.
Sulem P, Helgason H, Oddson A, Stefansson H, Gudjonsson SA, Zink F, Hjartarson E, Sigurdsson GT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Kong A, Helgason A, Holm H, Thorsteinsdottir U, Masson G, Gudbjartsson DF, Stefansson K. Sulem P, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2015 May;47(5):448-52. doi: 10.1038/ng.3243. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807282
Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.
Eising E, Huisman SMH, Mahfouz A, Vijfhuizen LS, Anttila V, Winsvold BS, Kurth T, Ikram MA, Freilinger T, Kaprio J, Boomsma DI, van Duijn CM, Järvelin MR, Zwart JA, Quaye L, Strachan DP, Kubisch C, Dichgans M, Davey Smith G, Stefansson K, Palotie A, Chasman DI, Ferrari MD, Terwindt GM, de Vries B, Nyholt DR, Lelieveldt BPF, van den Maagdenberg AMJM, Reinders MJT. Eising E, et al. Among authors: stefansson k. Hum Genet. 2016 Apr;135(4):425-439. doi: 10.1007/s00439-016-1638-x. Epub 2016 Feb 22. Hum Genet. 2016. PMID: 26899160 Free PMC article.
The rate of meiotic gene conversion varies by sex and age.
Halldorsson BV, Hardarson MT, Kehr B, Styrkarsdottir U, Gylfason A, Thorleifsson G, Zink F, Jonasdottir A, Jonasdottir A, Sulem P, Masson G, Thorsteinsdottir U, Helgason A, Kong A, Gudbjartsson DF, Stefansson K. Halldorsson BV, et al. Among authors: stefansson k. Nat Genet. 2016 Nov;48(11):1377-1384. doi: 10.1038/ng.3669. Epub 2016 Sep 19. Nat Genet. 2016. PMID: 27643539 Free PMC article.
1,070 results