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Page 1
A polygenic burden of rare disruptive mutations in schizophrenia.
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O'Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E, Shakir K, Garimella K, Fennell T, DePristo M, Grant SG, Haggarty SJ, Gabriel S, Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P. Purcell SM, et al. Among authors: sklar p. Nature. 2014 Feb 13;506(7487):185-90. doi: 10.1038/nature12975. Epub 2014 Jan 22. Nature. 2014. PMID: 24463508 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
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.
Lindblad-Toh K, Winchester E, Daly MJ, Wang DG, Hirschhorn JN, Laviolette JP, Ardlie K, Reich DE, Robinson E, Sklar P, Shah N, Thomas D, Fan JB, Gingeras T, Warrington J, Patil N, Hudson TJ, Lander ES. Lindblad-Toh K, et al. Among authors: sklar p. Nat Genet. 2000 Apr;24(4):381-6. doi: 10.1038/74215. Nat Genet. 2000. PMID: 10742102
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
Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis.
Sklar P, Pato MT, Kirby A, Petryshen TL, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Verner A, Hudson TJ, Morley CP, Kennedy JL, Azevedo MH, Lander E, Daly MJ, Pato CN. Sklar P, et al. Mol Psychiatry. 2004 Feb;9(2):213-8. doi: 10.1038/sj.mp.4001418. Mol Psychiatry. 2004. PMID: 14699422
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
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.
320 results