Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E. Schneeberger(Universität Hamburg)BrainJune 15, 202010.1093/brain/awaa204Cited by 59SaveCiteExport RISWatch citationsRelated Papersde novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation|Scientific Reports|2019|20Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis|Brain|2021|13