Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored. Because brain tissue is not available from most samples, we interrogated gene expression in lymphoblasts from 244 families wit...

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Autors principals: Luo, Rui, Sanders, Stephan J., Tian, Yuan, Voineagu, Irina, Huang, Ni, Chu, Su H., Klei, Lambertus, Cai, Chaochao, Ou, Jing, Lowe, Jennifer K., Hurles, Matthew E., Devlin, Bernie, State, Matthew W., Geschwind, Daniel H.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397271/
https://ncbi.nlm.nih.gov/pubmed/22726847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.011
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