De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea-Reference-Cited by-同舟云学术

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Published:2014-05 Issue:5 Volume:94 Page:784-789
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Xia Fan,Bainbridge Matthew N.,Tan Tiong Yang,Wangler Michael F.,Scheuerle Angela E.,Zackai Elaine H.,Harr Margaret H.,Sutton V. Reid,Nalam Roopa L.,Zhu Wenmiao,Nash Margot,Ryan Monique M.,Yaplito-Lee Joy,Hunter Jill V.,Deardorff Matthew A.,Penney Samantha J.,Beaudet Arthur L.,Plon Sharon E.,Boerwinkle Eric A.,Lupski James R.,Eng Christine M.,Muzny Donna M.,Yang Yaping,Gibbs Richard A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. Human genome sequencing in health and disease;Gonzaga-Jauregui;Annu. Rev. Med.,2012

5. Patterns and rates of exonic de novo mutations in autism spectrum disorders;Neale;Nature,2012

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