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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration; Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center; Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A. Van Hout CV, et al. Among authors: nelson mr. Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21. Nature. 2020. PMID: 33087929 Free PMC article.
Characterization of ADME gene variation in 21 populations by exome sequencing.
Hovelson DH, Xue Z, Zawistowski M, Ehm MG, Harris EC, Stocker SL, Gross AS, Jang IJ, Ieiri I, Lee JE, Cardon LR, Chissoe SL, Abecasis G, Nelson MR. Hovelson DH, et al. Among authors: nelson mr. Pharmacogenet Genomics. 2017 Mar;27(3):89-100. doi: 10.1097/FPC.0000000000000260. Pharmacogenet Genomics. 2017. PMID: 27984508 Free PMC article.
The support of human genetic evidence for approved drug indications.
Nelson MR, Tipney H, Painter JL, Shen J, Nicoletti P, Shen Y, Floratos A, Sham PC, Li MJ, Wang J, Cardon LR, Whittaker JC, Sanseau P. Nelson MR, et al. Nat Genet. 2015 Aug;47(8):856-60. doi: 10.1038/ng.3314. Epub 2015 Jun 29. Nat Genet. 2015. PMID: 26121088
The benefits of using genetic information to design prevention trials.
Hu Y, Li L, Ehm MG, Bing N, Song K, Nelson MR, Talmud PJ, Hingorani AD, Kumari M, Kivimäki M, Xu CF, Waterworth DM, Whittaker JC, Abecasis GR, Spino C, Kang HM. Hu Y, et al. Among authors: nelson mr. Am J Hum Genet. 2013 Apr 4;92(4):547-57. doi: 10.1016/j.ajhg.2013.03.003. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541341 Free PMC article.
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Rubio JP, Topp S, Warren L, St Jean PL, Wegmann D, Kessner D, Novembre J, Shen J, Fraser D, Aponte J, Nangle K, Cardon LR, Ehm MG, Chissoe SL, Whittaker JC, Nelson MR, Mooser VE. Rubio JP, et al. Among authors: nelson mr. Hum Mutat. 2012 Jul;33(7):1087-98. doi: 10.1002/humu.22075. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22415848 Free PMC article.
574 results