Research Articles

Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Clinical correlates of diagnostic certainty in children and youths with autistic disorder.

Sex differences and parent-teacher discrepancies in reports of autism traits: Evidence for camouflaging in a school setting.