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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
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Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014;158:263–76. This study is a first phenotypic characterization of 15 subjects carrying mutations in the newly discovered ASD risk gene CHD8.
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Huang TN, Chuang HC, Chou WH, Chen CY, Wang HF, Chou SJ, et al. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat Neurosci. 2014;17:240–7. This study is a first report on the neuroanatomical and behavioral characterization of a mouse model for the haploinsufficiency of the newly discovered ASD risk gene TBR1
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Huang TN, Chuang HC, Chou WH, Chen CY, Wang HF, Chou SJ, et al. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat Neurosci. 2014;17:240–7. This study is a first report on the neuroanatomical and behavioral characterization of a mouse model for the haploinsufficiency of the newly discovered ASD risk gene TBR1.
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