A framework for the interpretation of de novo mutation in human disease

Authors: Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath, Jack A. Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby, Dennis P. Wall, Daniel G. MacArthur, Stacey Gabriel, Mark A. DePristo, Shaun Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Richard A. Gibbs, Gerard D. Schellenberg, James S. Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M. Neale, Mark J. Daly - Nature Genetics 2014 cited by 1,123