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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Among authors: geschwind dh. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
A genomewide screen of 345 families for autism-susceptibility loci.
Yonan AL, Alarcón M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. Yonan AL, et al. Among authors: geschwind dh. Am J Hum Genet. 2003 Oct;73(4):886-97. doi: 10.1086/378778. Epub 2003 Sep 17. Am J Hum Genet. 2003. PMID: 13680528 Free PMC article.
Evidence for sex-specific risk alleles in autism spectrum disorder.
Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Stone JL, et al. Among authors: geschwind dh. Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5. Am J Hum Genet. 2004. PMID: 15467983 Free PMC article.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Autism Genome Project Consortium; Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemei… See abstract for full author list ➔ Autism Genome Project Consortium, et al. Among authors: geschwind dh. Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322880 Free PMC article.
Strong association of de novo copy number mutations with autism.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Sebat J, et al. Among authors: geschwind dh. Science. 2007 Apr 20;316(5823):445-9. doi: 10.1126/science.1138659. Epub 2007 Mar 15. Science. 2007. PMID: 17363630 Free PMC article.
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH. Martin CL, et al. Among authors: geschwind dh. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):869-76. doi: 10.1002/ajmg.b.30530. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17503474
A unified genetic theory for sporadic and inherited autism.
Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. Zhao X, et al. Among authors: geschwind dh. Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12831-6. doi: 10.1073/pnas.0705803104. Epub 2007 Jul 25. Proc Natl Acad Sci U S A. 2007. PMID: 17652511 Free PMC article.
579 results