Simons Simplex Collection

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.

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome.

Robust classification of protein variation using structural modelling and large-scale data integration.

CASPR2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice.

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