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�…

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described
in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution�…

A number of studies have confirmed that genetic factors play an important role in autism
spectrum disorder (ASD). More recently de novo mutations in the SHANK3 gene, a synaptic�…

Recent studies have highlighted the involvement of rare (< 1% frequency) copy-number
variations and point mutations in the genetic etiology of autism spectrum disorder (ASD);�…

Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat�…

Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in
individuals with autism spectrum disorder (ASD) and intellectual disability. However, the�…

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

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins�…

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

Schizophrenia likely results from poorly understood genetic and environmental factors. We
studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185�…