William B. Dobyns

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.

This study maps the spatial and single-cell transcriptional landscape of human cerebellar development, revealing cell-type-specific gene expression and implications for neurological disorders.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.