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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: Elsevier 2012
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Article
Online adgang: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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