Naama Elefant

This study finds that many critically ill children receive medications with established pharmacogenomic guidelines, but exome sequencing identifies actionable PGx variants that could improve treatment.

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

The paper identifies a rare TLN1 splice-site variant in a familial SCLS case, linking Talin1 dysfunction to systemic capillary leak syndrome through disrupted endothelial barrier integrity.

The paper identifies TGF-β signaling as a regulator of natural killer cell function in both pregnancy and tumor progression by analyzing immune compartment dynamics in human and mouse models.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.