Simons Simplex Collection

Female autism phenotypes investigated at different levels of language and developmental abilities.

Replication of standardized ADOS domain scores in the Simons Simplex Collection.

Low load for disruptive mutations in autism genes and their biased transmission.

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.

Excess of rare, inherited truncating mutations in autism.

FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders.

Epigenetics of autism-related impairment: Copy number variation and maternal infection.

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.

No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins.

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.

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