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. Author manuscript; available in PMC: 2015 Jul 17.
Published in final edited form as: Cell. 2014 Jul 3;158(2):263–276. doi: 10.1016/j.cell.2014.06.017

Figure 1. Spectrum of CHD8 mutations in autism spectrum disorder.

Figure 1

A) Gene isoforms 1 & 2 and B) protein models of CHD8 with proband putative disruptive mutations indicated. The location of the gene expression array probe used for Figure 3 (A_24_P361167) is shown in Figure 1A in red. Events in blue were reported previously (Neale et al., 2012; O’Roak et al., 2012a). Events in red are novel. *=diagnosis of intellectual disability (Table 1). See also Table S1 & S2; Figure S1.