Exome sequencing identifies the cause of a mendelian disorder

Authors: Sarah Ng, Kati J. Buckingham, Choli Lee, Abigail W. Bigham, Holly K. Tabor, Karin M. Dent, Chad D. Huff, Paul Shannon, Ethylin Wang Jabs, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad - Nature Genetics 2009 cited by 1,939