However, the recent identification of de novo, likely gene disrupting (LGD) mutations that show highly significant associations with autism ( Neale et al. 2012 ; Talkowski et al. 2012 ; O’Roak et al. 2012b ; Iossifov et al. 2014 ; O’Roak et al. 2014 ) provides an opportunity to phenotype and molecularly characterize genetically defined ASD subtypes.
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Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.
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