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279 results

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Page 1
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP. Wen J, et al. Among authors: hultman cm. Mol Psychiatry. 2023 Jan;28(1):475-482. doi: 10.1038/s41380-022-01857-4. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36380236 Free PMC article.
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
Rees E, Walters JT, Chambert KD, O'Dushlaine C, Szatkiewicz J, Richards AL, Georgieva L, Mahoney-Davies G, Legge SE, Moran JL, Genovese G, Levinson D, Morris DW, Cormican P, Kendler KS, O'Neill FA, Riley B, Gill M, Corvin A; Wellcome Trust Case Control Consortium; Sklar P, Hultman C, Pato C, Pato M, Sullivan PF, Gejman PV, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G. Rees E, et al. Hum Mol Genet. 2014 Mar 15;23(6):1669-76. doi: 10.1093/hmg/ddt540. Epub 2013 Oct 26. Hum Mol Genet. 2014. PMID: 24163246 Free PMC article.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O'Callaghan E, Waddington JL, Walsh D, O'Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, Mcquillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G; International Schizophrenia Consortium, SGENE+ Consortium; O'Neill FA; Wellcome Trust Case Control Consortium 2; Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A. Morris DW, et al. Hum Mol Genet. 2014 Jun 15;23(12):3316-26. doi: 10.1093/hmg/ddu025. Epub 2014 Jan 28. Hum Mol Genet. 2014. PMID: 24474471 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. Among authors: hultman cm. 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.
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.
Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA; Members of the International Cohort Collection for Bipolar Disorder (ICCBD); Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, Scolnick EM, Sklar P, Smoller JW, Lichtenstein P, Hultman C, Craddock N, Landén M, Smoller JW, Perlis RH, Lee PH, Castro VM, Hoffnagle AG, Sklar P, Stahl EA, Purcell SM, Ruderfer DM, Charney AW, Roussos P, Michele Pato CP, Medeiros H, Sobel J, Craddock N, Jones I, Forty L, Florio AD, Green E, Jones L, Gordon-Smith K, Landen M, Hultman C, Jureus A, Bergen S, McCarroll S, Moran J, Smoller JW, Chambert K, Belliveau RA. Song J, et al. Mol Psychiatry. 2016 Sep;21(9):1290-7. doi: 10.1038/mp.2015.165. Epub 2015 Oct 27. Mol Psychiatry. 2016. PMID: 26503763 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Maussion G, et al. Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759917 Free PMC article.
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
Leonenko G, Richards AL, Walters JT, Pocklington A, Chambert K, Al Eissa MM, Sharp SI, O'Brien NL, Curtis D, Bass NJ, McQuillin A, Hultman C, Moran JL, McCarroll SA, Sklar P, Neale BM, Holmans PA, Owen MJ, Sullivan PF, O'Donovan MC. Leonenko G, et al. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):724-731. doi: 10.1002/ajmg.b.32560. Epub 2017 Jul 18. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28719003 Free PMC article.
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.
Nguyen HT, Bryois J, Kim A, Dobbyn A, Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, Buxbaum JD, Hultman C, Sklar P, Purcell SM, Lage K, He X, Sullivan PF, Stahl EA. Nguyen HT, et al. Genome Med. 2017 Dec 20;9(1):114. doi: 10.1186/s13073-017-0497-y. Genome Med. 2017. PMID: 29262854 Free PMC article.
279 results