Mutation or disruption of the SH3 and ankyrin repeat domains 3 (SHANK3) gene represents
a highly penetrant, monogenic risk factor for autism spectrum disorder, and is a cause of …

Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of
neurobehavioural deficits characterized by widespread abnormalities in social interactions …

Because autism spectrum disorders are neurodevelopmental disorders and patients
typically display symptoms before the age of three, one of the key questions in autism …

Monogenic mutations in the SHANK3 gene, which encodes a postsynaptic scaffold protein,
play a causative role in autism spectrum disorder (ASD). Although a number of mouse …

Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum
disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived …

Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a
spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for …

Background SHANK3 is a protein in the core of the postsynaptic density (PSD) and has a
critical role in recruiting many key functional elements to the PSD and to the synapse …

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic
scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and …

Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder
(ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we …

Autism is a neurodevelopmental disorder characterized by aberrant reciprocal social
interactions, impaired communication, and repetitive behaviors. While the etiology remains …