Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Genetics
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.
Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes.
Generation of DNA methylation signatures and classification of variants in rare neurodevelopmental disorders using epigencentral.
Transcriptional diversity in synaptic gene sets is sufficient to discriminate cortical neuronal identity.
Deficits in integrative NMDA receptors caused by Grin1 disruption can be rescued in adulthood.
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
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