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Page 1
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
Liu D, Meyer D, Fennessy B, Feng C, Cheng E, Johnson JS, Park YJ, Rieder MK, Ascolillo S, de Pins A, Dobbyn A, Lebovitch D, Moya E, Nguyen TH, Wilkins L, Hassan A; Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team; Burdick KE, Buxbaum JD, Domenici E, Frangou S, Hartmann AM, Laurent-Levinson C, Malhotra D, Pato CN, Pato MT, Ressler K, Roussos P, Rujescu D, Arango C, Bertolino A, Blasi G, Bocchio-Chiavetto L, Campion D, Carr V, Fullerton JM, Gennarelli M, González-Peñas J, Levinson DF, Mowry B, Nimgaokar VL, Pergola G, Rampino A, Cervilla JA, Rivera M, Schwab SG, Wildenauer DB, Daly M, Neale B, Singh T, O'Donovan MC, Owen MJ, Walters JT, Ayub M, Malhotra AK, Lencz T, Sullivan PF, Sklar P, Stahl EA, Huckins LM, Charney AW. Liu D, et al. Among authors: sklar p. Nat Genet. 2023 Mar;55(3):369-376. doi: 10.1038/s41588-023-01305-1. Epub 2023 Mar 13. Nat Genet. 2023. PMID: 36914870 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
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
Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.
Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, Eisener AF, Brown A, Petryshen TL, Kirby AN, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Azevedo MH, Kennedy JL, Daly MJ, Sklar P, Pato CN. Middleton FA, et al. Among authors: sklar p. Am J Hum Genet. 2004 May;74(5):886-97. doi: 10.1086/420775. Epub 2004 Apr 1. Am J Hum Genet. 2004. PMID: 15060841 Free PMC article.
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11.
Pato CN, 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, Daly MJ, Sklar P. Pato CN, et al. Among authors: sklar p. Am J Med Genet B Neuropsychiatr Genet. 2004 May 15;127B(1):30-4. doi: 10.1002/ajmg.b.30001. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15108176 Free 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.
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q.
McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly MJ, Depaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo SH, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, Mackinnon JD, McInnis MG, McMahon FJ, Murphy DL, Nothen MM, Nurnberger JI, Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Rietschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi PP, Laird NM. McQueen MB, et al. Among authors: sklar p. Am J Hum Genet. 2005 Oct;77(4):582-95. doi: 10.1086/491603. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175504 Free PMC article.
320 results