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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Autors principals: 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
Idioma:Inglês
Publicat: 2012
Matèries:
Article
Accés en línia: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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