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
The New England Journal of Medicine and Surgery and the Collateral Branches of Science, April 2010, New England Journal of Medicine (NEJM/MMS)
DOI: 10.1056/nejmoa0908094