Genetics

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

Excess of rare, inherited truncating mutations in autism.

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.

In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9.

Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

DUF1220 copy number is associated with schizophrenia risk and severity: Implications for understanding autism and schizophrenia as related diseases.

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