Publication
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga-Jauregui, David Rio Deiros, David C.Y. Chen, Lynne Nazareth, Matthew Bainbridge, Huyen Dinh, Chyn Jing, David A. Wheeler, Amy L. McGuire, Feng Zhang, Pawel Stankiewicz, John J. Halperin, Chengyong Yang, Curtis Gehman, Danwei Guo, Rola K. Irikat, Warren Tom, Nick J. Fantin, Donna M. Muzny, Richard A. Gibbs
New England Journal of Medicine, April 2010, New England Journal of Medicine (NEJM/MMS)
DOI: 10.1056/nejmoa0908094