Genetics

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.

De novo rates and selection of large copy number variation.

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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