De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

著者: Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy, Sangwoo Kim, Tracy Dixon‐Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J. Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B. Gabriel, Gary W. Mathern, Joseph G. Gleeson - Nature Genetics 2012 被引用: 696