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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, 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; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Among authors: persico am. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
A genetic variant that disrupts MET transcription is associated with autism.
Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P. Campbell DB, et al. Among authors: persico am. Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16834-9. doi: 10.1073/pnas.0605296103. Epub 2006 Oct 19. Proc Natl Acad Sci U S A. 2006. PMID: 17053076 Free PMC article.
Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.
Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C, Curatolo P, Manzi B, Schneider C, Melmed R, Elia M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM. Lintas C, et al. Among authors: persico am. Mol Psychiatry. 2009 Jul;14(7):705-18. doi: 10.1038/mp.2008.21. Epub 2008 Mar 4. Mol Psychiatry. 2009. PMID: 18317465
Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.
Napolioni V, Lombardi F, Sacco R, Curatolo P, Manzi B, Alessandrelli R, Militerni R, Bravaccio C, Lenti C, Saccani M, Schneider C, Melmed R, Pascucci T, Puglisi-Allegra S, Reichelt KL, Rousseau F, Lewin P, Persico AM. Napolioni V, et al. Among authors: persico am. Eur J Hum Genet. 2011 Mar;19(3):353-9. doi: 10.1038/ejhg.2010.180. Epub 2010 Nov 24. Eur J Hum Genet. 2011. PMID: 21102624 Free PMC article.
177 results