Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Genetics
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
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.
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