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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, JM; Satterstrom, FK; Peng, MS; Brand, H; Collins, RL; Dong, S; Wamsley, B; Klei, L; Wang, L; Hao, SP; Stevens, CR; Cusick, C; Babadi, M; Banks, E; Collins, B; Dodge, S; Gabriel, SB; Gauthier, L; Lee, SK; Liang, L; Ljungdahl, A; Mahjani, B; Sloofman, L; Smirnov, AN; Barbosa, M; Betancur, C; Brusco, A; Chung, BHY; Cook, EH; Cuccaro, ML; Domenici, E; Ferrero, GB; Gargus, JJ; Herman, GE; Hertz-Picciotto, I; Maciel, P; Manoach, DS; Passos-Bueno, MR; Persico, AM; Renieri, A; Sutcliffe, JS; Tassone, F; Trabetti, E; Campos, G; Cardaropoli, S; Carli, D; Chan, MCY; Fallerini, C; Giorgio, E; Girardi, AC; Hansen-Kiss, E; Lee, SL; Lintas, C; Ludena, Y; Nguyen, R; Pavinato, L; Pericak-Vance, M; Pessah, IN; Schmidt, RJ; Smith, M; Costa, CIS; Trajkova, S; Wang, JYT; Yu, MHC; Cutler, DJ; De Rubeis, S; Buxbaum, JD; Daly, MJ; Devlin, B; Roeder, K; Sanders, SJ; Talkowski, ME

Daly, MJ; Talkowski, ME (通讯作者),Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA.;Daly, MJ; Talkowski, ME (通讯作者),Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Talkowski, ME (通讯作者),Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.;Daly, MJ; Talkowski, ME (通讯作者),Harvard Med Sch, Boston, MA 02115 USA.;Daly, MJ; Talkowski, ME (通讯作者),Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.;Daly, MJ (通讯作者),Massachusetts Gen Hosp,

NATURE GENETICS, 2022; 54 (9): 1320

Abstract

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disru......

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