Article
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Human mutation - 1 Jan 2014
Sawyer Sarah L, Schwartzentruber Jeremy, Beaulieu Chandree L, Dyment David, Smith Amanda, Warman Chardon Jodi, 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
Abstract excerpt
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-wide project focused on identifying novel disease genes for rare pediatric diseases using whole-exome sequencing....
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