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Page 1
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Among authors: sklar p. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Support for involvement of neuregulin 1 in schizophrenia pathophysiology.
Petryshen TL, Middleton FA, Kirby A, Aldinger KA, Purcell S, Tahl AR, Morley CP, McGann L, Gentile KL, Rockwell GN, Medeiros HM, Carvalho C, Macedo A, Dourado A, Valente J, Ferreira CP, Patterson NJ, Azevedo MH, Daly MJ, Pato CN, Pato MT, Sklar P. Petryshen TL, et al. Among authors: sklar p. Mol Psychiatry. 2005 Apr;10(4):366-74, 328. doi: 10.1038/sj.mp.4001608. Mol Psychiatry. 2005. PMID: 15545978 Clinical Trial.
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
Investigation of parent-of-origin effects in ADHD candidate genes.
Kim JW, Waldman ID, Faraone SV, Biederman J, Doyle AE, Purcell S, Arbeitman L, Fagerness J, Sklar P, Smoller JW. Kim JW, et al. Among authors: sklar p. Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):776-80. doi: 10.1002/ajmg.b.30519. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17427194
321 results