Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness

The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical application of WES has remained relatively unexplored. We describe our experience with WES as a diagnostic tool in a three-year old female patien...

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Main Authors: Hanchard, Neil A., Murdock, David R., Magoulas, Pilar L., Bainbridge, Matthew, Muzny, Donna, Wu, YuanQing, Wang, Min, Lupski, James R., Gibbs, Richard A., Brown, Chester W.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3926310/
https://ncbi.nlm.nih.gov/pubmed/22901280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2012.01951.x
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