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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Lionel AC, et al. Among authors: kirov g. Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393157 Clinical Trial.
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples.
Talkowski ME, Seltman H, Bassett AS, Brzustowicz LM, Chen X, Chowdari KV, Collier DA, Cordeiro Q, Corvin AP, Deshpande SN, Egan MF, Gill M, Kendler KS, Kirov G, Heston LL, Levitt P, Lewis DA, Li T, Mirnics K, Morris DW, Norton N, O'Donovan MC, Owen MJ, Richard C, Semwal P, Sobell JL, St Clair D, Straub RE, Thelma BK, Vallada H, Weinberger DR, Williams NM, Wood J, Zhang F, Devlin B, Nimgaonkar VL. Talkowski ME, et al. Among authors: kirov g. Biol Psychiatry. 2006 Jul 15;60(2):152-62. doi: 10.1016/j.biopsych.2006.02.015. Epub 2006 Apr 21. Biol Psychiatry. 2006. PMID: 16631129 Free PMC article. Review.
A network of dopaminergic gene variations implicated as risk factors for schizophrenia.
Talkowski ME, Kirov G, Bamne M, Georgieva L, Torres G, Mansour H, Chowdari KV, Milanova V, Wood J, McClain L, Prasad K, Shirts B, Zhang J, O'Donovan MC, Owen MJ, Devlin B, Nimgaonkar VL. Talkowski ME, et al. Among authors: kirov g. Hum Mol Genet. 2008 Mar 1;17(5):747-58. doi: 10.1093/hmg/ddm347. Epub 2007 Nov 27. Hum Mol Genet. 2008. PMID: 18045777 Free PMC article.
The penetrance of copy number variations for schizophrenia and developmental delay.
Kirov G, Rees E, Walters JT, Escott-Price V, Georgieva L, Richards AL, Chambert KD, Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ. Kirov G, et al. Biol Psychiatry. 2014 Mar 1;75(5):378-85. doi: 10.1016/j.biopsych.2013.07.022. Epub 2013 Aug 28. Biol Psychiatry. 2014. PMID: 23992924 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. Among authors: kirov g. 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.
380 results