Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

BACKGROUND: Neurodevelopment is orchestrated by a wide range of genes, and the genetic causes of neurodevelopmental disorders are thus heterogeneous. We applied whole exome sequencing (WES) for molecular diagnosis and in silico analysis to identify novel disease gene candidates in a cohort from Saud...

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Detalles Bibliográficos
Autores principales: Charng, Wu-Lin, Karaca, Ender, Coban Akdemir, Zeynep, Gambin, Tomasz, Atik, Mehmed M., Gu, Shen, Posey, Jennifer E., Jhangiani, Shalini N., Muzny, Donna M., Doddapaneni, Harsha, Hu, Jianhong, Boerwinkle, Eric, Gibbs, Richard A., Rosenfeld, Jill A., Cui, Hong, Xia, Fan, Manickam, Kandamurugu, Yang, Yaping, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., El-Hattab, Ayman W., Lupski, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950750/
https://www.ncbi.nlm.nih.gov/pubmed/27435318
http://dx.doi.org/10.1186/s12920-016-0208-3

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