Anna Kolesnik

The paper investigates the phenotypic variation in synaptic vesicle cycling disorders by clustering patients with and without these disorders to identify distinct neurodevelopmental profiles.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

This study compares social and emotional characteristics between females with DDX3X variants and those with other monogenic ID causes, finding higher anxiety and self-injurious behavior in the DDX3X group.

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