Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Original Research Article by B. O’Roak et al. (2012).
Read the article here.
In this study, researchers examined 2,494 samples from the Simons Foundation’s Simons Simplex Collection for changes in 44 genes that have been associated with autism and intellectual disability. The study found 27 de novo (not inherited from either parent) changes in 16 genes, including changes in CHD8 in eight children. Six of the children have larger-than-average head sizes.