Skip to main content
Download PDF
- Main
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
- Lim, Elaine T;
- Uddin, Mohammed;
- De Rubeis, Silvia;
- Chan, Yingleong;
- Kamumbu, Anne S;
- Zhang, Xiaochang;
- D'Gama, Alissa M;
- Kim, Sonia N;
- Hill, Robert Sean;
- Goldberg, Arthur P;
- Poultney, Christopher;
- Minshew, Nancy J;
- Kushima, Itaru;
- Aleksic, Branko;
- Ozaki, Norio;
- Parellada, Mara;
- Arango, Celso;
- Penzol, Maria J;
- Carracedo, Angel;
- Kolevzon, Alexander;
- Hultman, Christina M;
- Weiss, Lauren A;
- Fromer, Menachem;
- Chiocchetti, Andreas G;
- Freitag, Christine M;
- Church, George M;
- Scherer, Stephen W;
- Buxbaum, Joseph D;
- Walsh, Christopher A
Published Web Location
https://doi.org/10.1038/nn.4598Abstract
Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mutations in SMARCA4.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.