Associated Papers
Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulation.
Korchak EJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme's Activity, Stability, and Allosteric Modulation.
Korchak EJ et al.
Biorxiv : the Preprint Server for Biology, 2025
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.
Chen H et al.
Cell Reports, 2025
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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
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