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Validating therapeutic targets through human genetics.
Plenge RM, Scolnick EM, Altshuler D. Plenge RM, et al. Among authors: scolnick em. Nat Rev Drug Discov. 2013 Aug;12(8):581-94. doi: 10.1038/nrd4051. Epub 2013 Jul 19. Nat Rev Drug Discov. 2013. PMID: 23868113 Review.
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC; International Schizophrenia Consortium; Purcell SM, Sklar P, Scolnick EM, Xavier RJ, Altshuler D, Daly MJ. Raychaudhuri S, et al. Among authors: scolnick em. PLoS Genet. 2009 Jun;5(6):e1000534. doi: 10.1371/journal.pgen.1000534. Epub 2009 Jun 26. PLoS Genet. 2009. PMID: 19557189 Free PMC article.
Complement genes contribute sex-biased vulnerability in diverse disorders.
Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA. Kamitaki N, et al. Nature. 2020 Jun;582(7813):577-581. doi: 10.1038/s41586-020-2277-x. Epub 2020 May 11. Nature. 2020. PMID: 32499649 Free PMC article.
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, MacIntyre DJ, MacLean AW, St CD, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Ferrier IN, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N; Wellcome Trust Case Control Consortium. Ferreira MA, et al. Among authors: scolnick em. Nat Genet. 2008 Sep;40(9):1056-8. doi: 10.1038/ng.209. Nat Genet. 2008. PMID: 18711365 Free PMC article.
De novo mutations in schizophrenia implicate synaptic networks.
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O'Donovan MC. Fromer M, et al. Among authors: scolnick em. Nature. 2014 Feb 13;506(7487):179-84. doi: 10.1038/nature12929. Epub 2014 Jan 22. Nature. 2014. PMID: 24463507 Free PMC article.
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.
273 results