Article
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
American journal of human genetics - 7 Sept 2012
Manzini M Chiara, Tambunan Dimira E, Hill R Sean, Yu Tim W, Maynard Thomas M, Heinzen Erin L, Shianna Kevin V, Stevens Christine R, Partlow Jennifer N, Barry Brenda J, Rodriguez Jacqueline, Gupta Vandana A, Al-Qudah Abdel-Karim, Eyaid Wafaa M, Friedman Jan M, Salih Mustafa A, Clark Robin, Moroni Isabella, Mora Marina, Beggs Alan H, Gabriel Stacey B, Walsh Christopher A
Abstract excerpt
Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully penetrant autosomal-recessive diseases, and it has been very powerful in identifying disease-causing mutations even when enrollment of affected individuals is limited by reduced survival. In this study, we combined WES with homozygosity analysis of consanguineous...
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