The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
Genetics
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
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.
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.
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