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Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Among authors: caufield mj. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Plant D, Gibbons LJ; Wellcome Trust Case Control Consortium; YEAR Consortium; BIRAC Consortium; Wilson AG, Bax DE, Morgan AW, Emery P, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Worthington J. Barton A, et al. Nat Genet. 2008 Oct;40(10):1156-9. doi: 10.1038/ng.218. Epub 2008 Sep 14. Nat Genet. 2008. PMID: 18794857 Free PMC article.
Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis.
Nüesch E, Dale C, Palmer TM, White J, Keating BJ, van Iperen EP, Goel A, Padmanabhan S, Asselbergs FW; EPIC-Netherland Investigators; Verschuren WM, Wijmenga C, Van der Schouw YT, Onland-Moret NC, Lange LA, Hovingh GK, Sivapalaratnam S, Morris RW, Whincup PH, Wannamethe GS, Gaunt TR, Ebrahim S, Steel L, Nair N, Reiner AP, Kooperberg C, Wilson JF, Bolton JL, McLachlan S, Price JF, Strachan MW, Robertson CM, Kleber ME, Delgado G, März W, Melander O, Dominiczak AF, Farrall M, Watkins H, Leusink M, Maitland-van der Zee AH, de Groot MC, Dudbridge F, Hingorani A, Ben-Shlomo Y, Lawlor DA; UCLEB Investigators; Amuzu A, Caufield M, Cavadino A, Cooper J, Davies TL; IN Day; Drenos F, Engmann J, Finan C, Giambartolomei C, Hardy R, Humphries SE, Hypponen E, Kivimaki M, Kuh D, Kumari M, Ong K, Plagnol V, Power C, Richards M, Shah S, Shah T, Sofat R, Talmud PJ, Wareham N, Warren H, Whittaker JC, Wong A, Zabaneh D, Davey Smith G, Wells JC, Leon DA, Holmes MV, Casas JP. Nüesch E, et al. Int J Epidemiol. 2016 Dec 1;45(6):1927-1937. doi: 10.1093/ije/dyv074. Int J Epidemiol. 2016. PMID: 25979724 Free PMC article.