Authors
A Jeremy Willsey, Stephan J Sanders, Mingfeng Li, Shan Dong, Andrew T Tebbenkamp, Rebecca A Muhle, Steven K Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A Miller, Michael T Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A Gulhan Ercan-Sencicek, Jake Gockley, Abha R Gupta, Wenqi Han, Xin He, Ellen J Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant M Mane, Ed S Lein, Liping Wei, James P Noonan, Kathryn Roeder, Bernie Devlin, Nenad Sestan
Publication date
2013/11/21
Journal
Cell
Volume
155
Issue
5
Pages
997-1007
Publisher
Elsevier
Description
Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology. Recent studies employing exome- and genome-wide sequencing have identified nine high-confidence ASD (hcASD) genes. Working from the hypothesis that ASD-associated mutations in these biologically pleiotropic genes will disrupt intersecting developmental processes to contribute to a common phenotype, we have attempted to identify time periods, brain regions, and cell types in which these genes converge. We have constructed coexpression networks based on the hcASD "seed" genes, leveraging a rich expression data set encompassing multiple human brain regions across human development and into adulthood. By assessing enrichment of an independent set of probable ASD (pASD) genes, derived from the same sequencing studies, we demonstrate a key point of convergence in midfetal layer 5/6 cortical …
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