De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L. Harms(Universität Hamburg), Kerstin Kutsche(Universität Hamburg)Genetics in MedicineJuly 6, 202310.1016/j.gim.2023.100927Cited by 6SaveCiteExport 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 loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth|Human Mutation|2020|17