Reem Al‐Jawahiri

Polycomb-associated and Trithorax-associated developmental conditions - phenotypic convergence and heterogeneity

The paper analyzes phenotypic similarities and differences in developmental conditions caused by rare variants in PcG and TrxG genes using data-driven methods, revealing phenotypic convergence and heterogeneity.

Synaptic Vesicle Cycling Disorders: Cross-Sectional Phenotyping Study of a Gene Functional Network

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

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorder

The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.