High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways.
Genetics
Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice.
Mapping and characterization of structural variation in 17,795 human genomes.
Identifying rare genetic variants in 21 highly multiplex autism families: The role of diagnosis and autistic traits.
Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
A subphenotype-to-genotype approach reveals disproportionate megalencephaly autism risk genes.
Identification and impact of somatic mutations in regulatory regions in autism brain
In this study, Christopher Walsh and Peter Park aim to better understand the pathogenesis of ASD through the characterization and functional analysis of somatic mutations identified by direct sequencing of DNA derived from postmortem brain tissues of individuals who were diagnosed with ASD.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral and transcriptomic levels.
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