Richard S. Smith

The paper compares the molecular and functional effects of a PACS1 variant (p.R203W) with complete PACS1 loss-of-function in iPSC-derived neurons, finding distinct phenotypes suggesting a non-loss-of-function mechanism.

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.

The paper investigates auxin's role in moss phyllid development, showing conserved functions but divergent transport mechanisms compared to vascular plants.

The paper uses physical gel models and simulations to study brain folding in ferrets and links findings to human cortical malformations caused by genetic defects.

The paper demonstrates that ASO therapy targeting KCNT1 reduces seizures in a severe childhood epilepsy condition by normalizing neuronal function in prenatally enriched neurons.

The paper investigates PRDM16's role in human brain development by analyzing a patient mutation and cortical organoids, revealing its collaboration with LHX2 in gene regulation.

The paper investigates the role of CSI1 in sepal morphogenesis, finding that it ensures spatial consistency of cell growth direction despite altered cellulose microfibril alignment in mutants.

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

The paper profiles interneurons in primates and rodents to identify evolutionary innovations in brain cell types and their molecular features.