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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC); Parr JR, Wilkie AO. Babbs C, et al. Among authors: volpi ev. J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16. J Med Genet. 2014. PMID: 25228304 Free PMC article.
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC). Sykes NH, et al. Among authors: volpi ev. Eur J Hum Genet. 2009 Oct;17(10):1347-53. doi: 10.1038/ejhg.2009.47. Epub 2009 Apr 22. Eur J Hum Genet. 2009. PMID: 19384346 Free PMC article.
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium; Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP. Newbury DF, et al. Among authors: volpi ev. Am J Med Genet A. 2009 Feb 15;149A(4):588-97. doi: 10.1002/ajmg.a.32704. Am J Med Genet A. 2009. PMID: 19267418 Free PMC article.
57 results