Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders

Vanderver, Adeline; Bernard, Geneviève; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; L. Fraser, Jamie; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, Sheel; Sherr, Elliott; van Haren, Keith; Waters, Erica; L. Wilson, Jenny; Zhorne, Leah; Schiffmann, Raphael; S. van der Knaap, Marjo; Pizzino, Amy; Dubbs, Holly; Shults, Justine; Simons, Cas; J. Taft, Ryan; Workgroup, LeukoSEQ

doi:10.1002/ana.25757

Public

Randomized Clinical Trial ofFirst‐LineGenome Sequencing in Pediatric White Matter Disorders

Shared by NobleBlocks on Jun 9, 2020 • 12:00 AM UTC

Authors:

Adeline Vanderver

Geneviève Bernard

Guy Helman

Abstract

Objective Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods A prospective time‐delayed crossover design trial of GS to assess the efficacy of GS as a first‐line diagnostic tool for genetic white matter disorders took place...

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