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Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.
Lescai F, Als TD, Li Q, Nyegaard M, Andorsdottir G, Biskopstø M, Hedemand A, Fiorentino A, O'Brien N, Jarram A, Liang J, Grove J, Pallesen J, Eickhardt E, Mattheisen M, Bolund L, Demontis D, Wang AG, McQuillin A, Mors O, Wang J, Børglum AD. Lescai F, et al. Transl Psychiatry. 2017 Feb 14;7(2):e1034. doi: 10.1038/tp.2017.3. Transl Psychiatry. 2017. PMID: 28195573 Free PMC article.
The functional GRM3 Kozak sequence variant rs148754219 affects the risk of schizophrenia and alcohol dependence as well as bipolar disorder.
O'Brien NL, Way MJ, Kandaswamy R, Fiorentino A, Sharp SI, Quadri G, Alex J, Anjorin A, Ball D, Cherian R, Dar K, Gormez A, Guerrini I, Heydtmann M, Hillman A, Lankappa S, Lydall G, O'Kane A, Patel S, Quested D, Smith I, Thomson AD, Bass NJ, Morgan MY, Curtis D, McQuillin A. O'Brien NL, et al. Psychiatr Genet. 2014 Dec;24(6):277-8. doi: 10.1097/YPG.0000000000000050. Psychiatr Genet. 2014. PMID: 25046171 Free PMC article. No abstract available.
A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.
Duan J, Shi J, Fiorentino A, Leites C, Chen X, Moy W, Chen J, Alexandrov BS, Usheva A, He D, Freda J, O'Brien NL; Molecular Genetics of Schizophrenia collaboration; Genomic Psychiatric Cohort consortium; McQuillin A, Sanders AR, Gershon ES, DeLisi LE, Bishop AR, Gurling HM, Pato MT, Levinson DF, Kendler KS, Pato CN, Gejman PV. Duan J, et al. Am J Hum Genet. 2014 Dec 4;95(6):744-53. doi: 10.1016/j.ajhg.2014.11.001. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434007 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.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan… See abstract for full author list ➔ Singh T, et al. Among authors: o brien nl. Nature. 2022 Apr;604(7906):509-516. doi: 10.1038/s41586-022-04556-w. Epub 2022 Apr 8. Nature. 2022. PMID: 35396579 Free PMC article.
34 results