Disruptive CHD8 mutations define a subtype of autism early in development

Autism spectrum disorder (ASD) is a heterogeneous disease where efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with development...

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Главные авторы: Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly, Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136921/
https://ncbi.nlm.nih.gov/pubmed/24998929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2014.06.017
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