Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
Genetics
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.
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
CNTNAP2 variants affect early language development in the general population.
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