Hyung‐Goo Kim

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

This study shows that deleting TRPC6 in human cortical neurons increases neuronal hyperexcitability by reducing SOCE signaling.

This study shows that WDR11 loss disrupts primordial germ cell development by impairing both canonical and non-canonical Hedgehog signaling pathways.

This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.