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

2010763 citationsJournal Articlebronze Open Access

Authors

James R. Lupski · Texas Children's Hospital

Jeffrey G. Reid

Claudia Gonzaga‐Jauregui

David Rio Deiros

David C.Y. Chen

Lynne Nazareth

Matthew N. Bainbridge

Huyen Dinh

Chyn Jing

David A. Wheeler

Amy L. McGuire · Institute of Medical Ethics

Abstract

As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.

Topics & Keywords

Hereditary Neurological Disorders Neurological diseases and metabolism Hippo pathway signaling and YAP/TAZ

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: New England Journal of Medicine

Volume 362, Issue 13, pp. 1181-1191

DOI: 10.1056/nejmoa0908094

Field-Weighted Citation Impact: 49.81