Article
Whole exome sequencing in patients with white matter abnormalities.
Annals of neurology - 1 Jun 2016
Vanderver Adeline, Simons Cas, Helman Guy, Crawford Joanna, Wolf Nicole I, Bernard Geneviève, Pizzino Amy, Schmidt Johanna L, Takanohashi Asako, Miller David, Khouzam Amirah, Rajan Vani, Ramos Erica, Chowdhury Shimul, Hambuch Tina, Ru Kelin, Baillie Gregory J, Grimmond Sean M, Caldovic Ljubica, Devaney Joseph, Bloom Miriam, Evans Sarah H, Murphy Jennifer L P, McNeill Nathan, Fogel Brent L, Schiffmann Raphael, van der Knaap Marjo S, Taft Ryan J
Abstract excerpt
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant...
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