Associated Papers
A novel USP27X missense variant identified in an individual with intellectual disability.
Luo S et al.
Journal of Human Genetics, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay.
Koch I et al.
Journal of Visualized Experiments : Jove, 2024
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I et al.
Life Science Alliance, 2024
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