Genetics

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Loss of delta-catenin function in severe autism.

Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism.”

Genetic aspects of autism spectrum disorders: Insights from animal models.

Disruptive CHD8 mutations define a subtype of autism early in development.

Paired-duplication signatures mark cryptic inversions and other complex structural variation.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Increased female autosomal burden of rare copy number variants in human populations and in autism families.