Almundher A. Al-Maawali

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 paper identifies a biallelic EXOSC4 variant causing translational defects and a neurodevelopmental disorder through functional studies in yeast.

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.