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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: mcrae af. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Family-based genome-wide association studies.
Benyamin B, Visscher PM, McRae AF. Benyamin B, et al. Among authors: mcrae af. Pharmacogenomics. 2009 Feb;10(2):181-90. doi: 10.2217/14622416.10.2.181. Pharmacogenomics. 2009. PMID: 19207019 Review.
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG. Medland SE, et al. Among authors: mcrae af. Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896111 Free PMC article.
A versatile gene-based test for genome-wide association studies.
Liu JZ, McRae AF, Nyholt DR, Medland SE, Wray NR, Brown KM; AMFS Investigators; Hayward NK, Montgomery GW, Visscher PM, Martin NG, Macgregor S. Liu JZ, et al. Among authors: mcrae af. Am J Hum Genet. 2010 Jul 9;87(1):139-45. doi: 10.1016/j.ajhg.2010.06.009. Am J Hum Genet. 2010. PMID: 20598278 Free PMC article.
Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning.
Luong HT, Chaplin J, McRae AF, Medland SE, Willemsen G, Nyholt DR, Henders AK, Hoekstra C, Duffy DL, Martin NG, Boomsma DI, Montgomery GW, Painter JN. Luong HT, et al. Among authors: mcrae af. Twin Res Hum Genet. 2011 Oct;14(5):408-16. doi: 10.1375/twin.14.5.408. Twin Res Hum Genet. 2011. PMID: 21962132
157 results