Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
Original research article by B.J. O’Roak et al. (2012)
Read the abstract here.
The authors of this study used genetic material from 2,446 people in the Simon Simplex Collection (SSC) to look for 44 genes that have been associated with autism. The SSC includes children with autism and intellectual disability. This study identified 27 de novo (not inherited from either parent) gene changes in 16 genes, including four people with changes in GRIN2B.