Genetics

Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.

SFARI Gene: An evolving database for the autism research community.

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

The Simons Simplex Collection: a resource for identification of autism genetic risk factors.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

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