Genetics

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

A genome-wide linkage and association scan reveals novel loci for autism.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

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.