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Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: sklar p. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Cargill M, et al. Among authors: sklar p. Nat Genet. 1999 Jul;22(3):231-8. doi: 10.1038/10290. Nat Genet. 1999. PMID: 10391209
Assessing the impact of population stratification on genetic association studies.
Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D. Freedman ML, et al. Among authors: sklar p. Nat Genet. 2004 Apr;36(4):388-93. doi: 10.1038/ng1333. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052270
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.
Petryshen TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S, Aldinger KA, Kirby A, Morley CP, McGann L, Gentile KL, Waggoner SG, Medeiros HM, Carvalho C, Macedo A, Albus M, Maier W, Trixler M, Eichhammer P, Schwab SG, Wildenauer DB, Azevedo MH, Pato MT, Pato CN, Daly MJ, Sklar P. Petryshen TL, et al. Among authors: sklar p. Mol Psychiatry. 2005 Dec;10(12):1074-88, 1057. doi: 10.1038/sj.mp.4001739. Mol Psychiatry. 2005. PMID: 16172613 Clinical Trial.
Recurrence risks for schizophrenia in a Swedish national cohort.
Lichtenstein P, Björk C, Hultman CM, Scolnick E, Sklar P, Sullivan PF. Lichtenstein P, et al. Among authors: sklar p. Psychol Med. 2006 Oct;36(10):1417-25. doi: 10.1017/S0033291706008385. Epub 2006 Jul 25. Psychol Med. 2006. PMID: 16863597
320 results