Article
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
PLoS genetics - 1 Jun 2013
Noh Hyun Ji, Ponting Chris P, Boulding Hannah C, Meader Stephen, Betancur Catalina, Buxbaum Joseph D, Pinto Dalila, Marshall Christian R, Lionel Anath C, Scherer Stephen W, Webber Caleb
Abstract excerpt
Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 individuals with autism and exploiting mouse functional genomics and known protein-protein interactions, we identified a large and significantly interconnected...
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