Umar Bin Mohamad Sahari

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.