Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published C...

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Veröffentlicht in:	Neuron (Cambridge, Mass.) Mass.), 2015-09, Vol.87 (6), p.1215-1233
Hauptverfasser:	Sanders, Stephan J., He, Xin, Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, Samocha, Kaitlin E., Cicek, A. Ercument, Murtha, Michael T., Bal, Vanessa H., Bishop, Somer L., Dong, Shan, Goldberg, Arthur P., Jinlu, Cai, Keaney, John F., Klei, Lambertus, Mandell, Jeffrey D., Moreno-De-Luca, Daniel, Poultney, Christopher S., Robinson, Elise B., Smith, Louw, Solli-Nowlan, Tor, Su, Mack Y., Teran, Nicole A., Walker, Michael F., Werling, Donna M., Beaudet, Arthur L., Cantor, Rita M., Fombonne, Eric, Geschwind, Daniel H., Grice, Dorothy E., Lord, Catherine, Lowe, Jennifer K., Mane, Shrikant M., Martin, Donna M., Morrow, Eric M., Talkowski, Michael E., Sutcliffe, James S., Walsh, Christopher A., Yu, Timothy W., Ledbetter, David H., Martin, Christa Lese, Cook, Edwin H., Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Roeder, Kathryn, State, Matthew W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Female Females Genes Genetic Loci - genetics Genetic Variation - genetics Genomes Humans Male Mutation Protein Interaction Maps - genetics Siblings
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