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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: 2012
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items