Article
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature - 4 Apr 2012
Neale Benjamin M, Kou Yan, Liu Li, Ma'ayan Avi, Samocha Kaitlin E, Sabo Aniko, Lin Chiao-Feng, Stevens Christine, Wang Li-San, Makarov Vladimir, Polak Paz, Yoon Seungtai, Maguire Jared, Crawford Emily L, Campbell Nicholas G, Geller Evan T, Valladares Otto, Schafer Chad, Liu Han, Zhao Tuo, Cai Guiqing, Lihm Jayon, Dannenfelser Ruth, Jabado Omar, Peralta Zuleyma, Nagaswamy Uma, Muzny Donna, Reid Jeffrey G, Newsham Irene, Wu Yuanqing, Lewis Lora, Han Yi, Voight Benjamin F, Lim Elaine, Rossin Elizabeth, Kirby Andrew, Flannick Jason, Fromer Menachem, Shakir Khalid, Fennell Tim, Garimella Kiran, Banks Eric, Poplin Ryan, Gabriel Stacey, DePristo Mark, Wimbish Jack R, Boone Braden E, Levy Shawn E, Betancur Catalina, Sunyaev Shamil, Boerwinkle Eric, Buxbaum Joseph D, Cook Edwin H, Devlin Bernie, Gibbs Richard A, Roeder Kathryn, Schellenberg Gerard D, Sutcliffe James S, Daly Mark J
Abstract excerpt
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified. To identify further genetic risk factors, here we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n = 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.