Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

http://content.nejm.org/cgi/content/full/NEJMoa0908094

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, M.D., Ph.D., Jeffrey G. Reid, Ph.D., Claudia Gonzaga-Jauregui, B.S., David Rio Deiros, B.S., David C.Y. Chen, M.Sc., Lynne Nazareth, Ph.D., Matthew Bainbridge, M.Sc., Huyen Dinh, B.S., Chyn Jing, M.Sc., David A. Wheeler, Ph.D., Amy L. McGuire, J.D., Ph.D., Feng Zhang, Ph.D., Pawel Stankiewicz, M.D., Ph.D., John J. Halperin, M.D., Chengyong Yang, Ph.D., Curtis Gehman, Ph.D., Danwei Guo, M.Sc., Rola K. Irikat, B.S., Warren Tom, B.S., Nick J. Fantin, B.S., Donna M. Muzny, M.Sc., and Richard A. Gibbs, Ph.D.