The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

In the interest of more systematically documenting the early signs of autism, and of testing
specific hypotheses regarding their underlying neurodevelopmental substrates, we have …

Structural variation (copy number variation [CNV] including deletion and duplication,
translocation, inversion) of chromosomes has been identified in some individuals with autism …

Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic …

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 of …

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants (CNVs). …

It is well recognized that delayed" first words" is among the most common presenting
symptoms of autistic spectrum disorders (ASD). However, data on earlier language and …

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 mental …

Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds
of susceptibility loci. Previous microarray and exome-sequencing studies have examined …