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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4950750/
https://ncbi.nlm.nih.gov/pubmed/27435318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-016-0208-3
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