Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

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 individ...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3512000/
https://ncbi.nlm.nih.gov/pubmed/22958903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.07.009
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