Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed us...

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Publicado no:Hum Genet
Main Authors: Santos-Cortez, Regie Lyn P., Khan, Valeed, Sher Khan, Falak Sher, Mughal, Zaib-un-Nisa, Chakchouk, Imen, Lee, Kwanghyuk, Rasheed, Memoona, Hamza, Rifat, Acharya, Anushree, Ullah, Ehsan, Nadeem Saqib, Muhammad Arif, Abbe, Izoduwa, Ali, Ghazanfar, Jawad Hassan, Muhammad, Khan, Saadullah, Azeem, Zahid, Ullah, Irfan, Bamshad, Michael J., Nickerson, Deborah A., Schrauwen, Isabelle, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6201268/
https://ncbi.nlm.nih.gov/pubmed/30167849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1928-6
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