Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.
Genetics
Contribution of autosomal rare and de novo variants to sex differences in autism.
Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.
Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.
Return of genetic research results in 21,532 individuals with autism.
Copy-number variants differ in frequency across genetic ancestry groups.
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Chromosome X-wide common variant association study in autism spectrum disorder.
Prematurity and genetic liability for autism spectrum disorder.
Determining how rare and common variants interact and contribute to risk for autism
Autism is a highly polygenic disorder in which multiple classes of genetic variation — ranging from common variants with small effects to highly penetrant copy number variants and de novo exonic variants — contribute to risk. Growing evidence suggests an interplay between rare and common variants. Hyejung Won, Kristen Brennand and Nan Yang aim to study the biological underpinning of how common and rare variants interact to contribute to ASD risk.
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