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
Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.
van der Laan L et al.
Frontiers in Genetics, 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.
Biorxiv : the Preprint Server for Biology, 2024
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Wimmer MC et al.
Clinical Genetics, 2024
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
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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