Shyam K. Akula

This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.

This study investigates ARX's role in cortical interneuron development and migration, identifying its regulatory impact on proliferation, fate specification, and cell-cell communication.

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.

This study uses single-nucleus RNA-sequencing to analyze glial dysregulation in Fragile X-related disorders, finding FMR1 mRNA reduction in FXS and glial upregulation in premutation cases.

This study identifies ATP1A3 variants in children with polymicrogyria and maps ATP1A3 expression patterns in human neocortex development using single-cell RNA sequencing.

PRDD-seq simultaneously reconstructs cell type, lineage, and birthdate in human brain tissue by analyzing RNA and DNA mutations in single cells.

This study shows that maternal SSRI exposure during offspring development causes long-term behavioral, cellular, and neuroimaging disruptions, suggesting a direct role in ASD risk.