De novo mutations revealed by whole exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations (CNVs) to the risk for Autism Spectrum Disorders (ASD).(1-3) While de novo single nucleotide variants (SNVs) have been identified in affected individuals,(4) their contribution to risk has yet to be clarified. Sp...

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Main Authors: Sanders, Stephan J., Murtha, Michael T., Gupta, Abha R., Murdoch, John D., Raubeson, Melanie J., Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, DiLullo, Nicholas M., Parikshak, Neelroop N., Stein, Jason L., Walker, Michael F., Ober, Gordon T., Teran, Nicole A., Song, Youeun, El-Fishawy, Paul, Murtha, Ryan C., Choi, Murim, Overton, John D., Bjornson, Robert D., Carriero, Nicholas J., Meyer, Kyle A., Bilguvar, Kaya, Mane, Shrikant M., Šestan, Nenad, Lifton, Richard P., Günel, Murat, Roeder, Kathryn, Geschwind, Daniel H., Devlin, Bernie, State, Matthew W.
Format: Artigo
Sprog:Inglês
Udgivet: 2012
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3667984/
https://ncbi.nlm.nih.gov/pubmed/22495306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature10945
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