Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Original research article by S. Girirajan et al. (2013).

Read the abstract here.

In this study, 2,588 people with features of autism from the Simons Foundation’s Simons Simplex Collection were screened for changes in 44 genes that may be related to autism. Three of the 2,588 people were found to have a change in the MBD5 gene.