John Pappas

This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

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

The paper shows that epigenetic editing of the Sema6a promoter can reverse impaired transcallosal connectivity caused by C11orf46 mutations.