Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism

Given prior evidence for the contribution of rare copy number variations (CNVs) to autism spectrum disorders (ASD), we studied these events in 4,457 individuals from 1,174 simplex families, composed of parents, a proband and, in most kindreds, an unaffected sibling. We find significant association o...

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Autores principales: Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B. S., Choi, Murim, Crawford, Emily L., Davis, Lea, Wright, Nicole R. Davis, Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2011
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3939065/
https://ncbi.nlm.nih.gov/pubmed/21658581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2011.05.002
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