Julian A. N. M. Halmai

This study uses an intersectional CRISPR-Cas9 approach to target NaV1.1 in proprioceptors, revealing its essential role in motor coordination and action potential firing.

This study uses cortical organoids to model PPP2R5D mutations in Jordans Syndrome, identifying gene expression, protein, and electrophysiological changes linked to disease severity.

This study shows that ZC4H2 loss of function in human neural stem cells and organoids leads to premature neuronal differentiation and impaired neurogenesis, with potential therapeutic restoration through a codon-optimized transgene.