Behavior and sensory interests questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability.
Research Articles
SV2: Accurate structural variation genotyping and de novo mutation detection from whole genomes.
MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.
CHD8 mutation leads to autistic-like behaviors and impaired striatal circuits.
Pathogenic variants that alter protein code often disrupt splicing.
Mapping 22q11.2 gene dosage effects on brain morphometry.
Predictors of inpatient psychiatric hospitalization for children and adolescents with autism spectrum disorder.
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Indel variant analysis of short-read sequencing data with Scalpel.
Opposing effects on Nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures.
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