Genetics

A general framework for estimating the relative pathogenicity of human genetic variants.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

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.

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