Original Investigation
Clinical Whole-Exome Sequencing
Yaping Yang, PhD; Donna M. Muzny, MS; Fan Xia, PhD; Zhiyv Niu, PhD; Richard Person, PhD; Yan Ding, MD; Patricia Ward, MS; Alicia Braxton, MS; Min Wang, PhD; Christian Buhay, BS; Narayanan Veeraraghavan, PhD; Alicia Hawes, BS; Theodore Chiang, MS; Magalie Leduc, PhD; Joke Beuten, PhD; Jing Zhang, PhD; Weimin He, PhD; Jennifer Scull, PhD; Alecia Willis, PhD; Megan Landsverk, PhD; William J. Craigen, MD, PhD; Mir Reza Bekheirnia, MD; Asbjorg Stray-Pedersen, MD, PhD; Pengfei Liu, PhD; Shu Wen, PhD; Wendy Alcaraz, PhD; Hong Cui, PhD; Magdalena Walkiewicz, PhD; Jeffrey Reid, PhD; Matthew Bainbridge, PhD; Ankita Patel, PhD; Eric Boerwinkle, PhD; Arthur L. Beaudet, MD; James R. Lupski, MD, PhD; Sharon E. Plon, MD, PhD; Richard A. Gibbs, PhD; Christine M. Eng, MD
JAMA
Original Investigation
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee, PhD; Joshua L. Deignan, PhD; Naghmeh Dorrani, MS, CGC; Samuel P. Strom, PhD; Sibel Kantarci, PhD; Fabiola Quintero-Rivera, MD; Kingshuk Das, MD; Traci Toy, BS; Bret Harry, BS; Michael Yourshaw, PhD; Michelle Fox, MS, CGC; Brent L. Fogel, MD, PhD; Julian A. Martinez-Agosto, MD, PhD; Derek A. Wong, MD; Vivian Y. Chang, MD, MS; Perry B. Shieh, MD, PhD; Christina G. S. Palmer, PhD, CGC; Katrina M. Dipple, MD, PhD; Wayne W. Grody, MD, PhD; Eric Vilain, MD, PhD; Stanley F. Nelson, MD
JAMA