Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation...

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Bibliographic Details
Published in:Hum Mutat
Main Authors: Sawyer, Sarah L, Schwartzentruber, Jeremy, Beaulieu, Chandree L, Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A, Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A, Marshall, Christian R, Bulman, Dennis E, Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M
Format: Artigo
Language:Inglês
Published: Blackwell Publishing Ltd 2014
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Brief Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255313/
https://ncbi.nlm.nih.gov/pubmed/24108619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22451
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