Associated Papers
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Wimmer MC et al.
Clinical Genetics, 2024
Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder.
Zheng H et al.
Frontiers in Molecular Neuroscience, 2022
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Hao YH et al.
Molecular Cell, 2015
Select a paper to view details