Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine R. Stevens, Jennifer G. Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, , Kaija Puura
This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.
Cell · Jan 1, 2019Peer-reviewedGenetics