Kristen Park

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

This study identifies differences in HCN channel activity across mediodorsal thalamus subnuclei, linking these differences to distinct intrinsic oscillatory properties and cellular resonance.

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

This study shows that loss of Grin2a causes delayed electrophysiological maturation of hippocampal parvalbumin interneurons, leading to transient seizure susceptibility in mice.

The paper uses scRNA-seq to classify cell types in the mouse ventral posterior hypothalamus, revealing distinct neuronal and non-neuronal populations and their spatial organization in the mammillary bodies.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.