Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders FREE ONLINE FIRST

Hane Lee, PhD1,2; Joshua L. Deignan, PhD1,2; Naghmeh Dorrani, MS, CGC2,3; Samuel P. Strom, PhD1,2; Sibel Kantarci, PhD1,2; Fabiola Quintero-Rivera, MD1,2; Kingshuk Das, MD1,2; Traci Toy, BS1,2; Bret Harry, BS4; Michael Yourshaw, PhD3; Michelle Fox, MS, CGC3; Brent L. Fogel, MD, PhD5; Julian A. Martinez-Agosto, MD, PhD3,6; Derek A. Wong, MD3; Vivian Y. Chang, MD, MS3; Perry B. Shieh, MD, PhD5; Christina G. S. Palmer, PhD, CGC6,7; Katrina M. Dipple, MD, PhD3,6; Wayne W. Grody, MD, PhD1,2,3,6; Eric Vilain, MD, PhD2,3,6; Stanley F. Nelson, MD1,2,6,7

[+] Author Affiliations

JAMA. Published online October 18, 2014. doi:10.1001/jama.2014.14604