Genetics

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.

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Modeling human disease in humans: The ciliopathies.

The conundrums of understanding genetic risks for autism spectrum disorders.

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