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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ. Kirov G, et al. Among authors: sklar p. Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15. Mol Psychiatry. 2012. PMID: 22083728 Free PMC article.
Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls.
Sklar P, Schwab SG, Williams NM, Daly M, Schaffner S, Maier W, Albus M, Trixler M, Eichhammer P, Lerer B, Hallmayer J, Norton N, Williams H, Zammit S, Cardno AG, Jones S, McCarthy G, Milanova V, Kirov G, O'Donovan MC, Lander ES, Owen MJ, Wildenauer DB. Sklar P, et al. Nat Genet. 2001 Jun;28(2):126-8. doi: 10.1038/88836. Nat Genet. 2001. PMID: 11381257
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.
Association between microdeletion and microduplication at 16p11.2 and autism.
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Weiss LA, et al. Among authors: sklar p. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9. N Engl J Med. 2008. PMID: 18184952 Free article.
Whole-genome association study of bipolar disorder.
Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, de Bakker PI, Ogdie MN, Thase ME, Sachs GS, Todd-Brown K, Gabriel SB, Sougnez C, Gates C, Blumenstiel B, Defelice M, Ardlie KG, Franklin J, Muir WJ, McGhee KA, MacIntyre DJ, McLean A, VanBeck M, McQuillin A, Bass NJ, Robinson M, Lawrence J, Anjorin A, Curtis D, Scolnick EM, Daly MJ, Blackwood DH, Gurling HM, Purcell SM. Sklar P, et al. Mol Psychiatry. 2008 Jun;13(6):558-69. doi: 10.1038/sj.mp.4002151. Epub 2008 Mar 4. Mol Psychiatry. 2008. PMID: 18317468 Free PMC article.
321 results