Jasper J. van der Smagt

The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.