Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here.

Whole-exome sequencing was performed for 209 families (677 people) who had participated in the Simons Foundation’s Simons Simplex Collection. The study included children with autism and intellectual disability. This study identified over 100 new candidate genes related to developmental delay, intellectual disability, and/or features of autism, including the MBD5 gene (a gene known to be involved in causing intellectual disability) that was not inherited from either parent.