ArticleNPJ genomic medicine2020
Missense variant contribution to USP9X-female syndrome.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- Benchmarking In-Cell Proteomics for Profiling Neuroblastoma Cell Differentiation and the Ubiquitin-Proteasome System.Journal of proteome research · 2025Article
- A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.Molecular biology reports · 2025Article
- Evolutionary divergence between homologous X-Y chromosome genes shapes sex-biased biology.Nature ecology & evolution · 2025Article
- Assessment of Prenatal Transportation Stress and Sex on Gene Expression Within the Amygdala of Brahman Calves.Biology · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.Journal of assisted reproduction and genetics · 2024Article
- Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Comparison of Serum USP9x and TGF-β Levels in Children with Autism Spectrum Disorders with Healthy Controls.Noro psikiyatri arsivi · 2024Article
- Article
- Identification of USP9X as a leukemia susceptibility gene.Blood advances · 2023Article
- Ubiquitin-specific peptidases: Players in bone metabolism.Cell proliferation · 2023Review
- Novel Variant in theMolecular syndromology · 2023Article
- Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.Scientific reports · 2023Article
- Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.Nature communications · 2022Article
- Monogenic causes of pigmentary mosaicism.Human genetics · 2022Article
- The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.Biological psychiatry · 2022Review
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
- Non-Invasive Detection of a De Novo Frameshift Variant ofJournal of clinical medicine · 2022Article
- Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
33 authors at 20 institutions in 9 countries.
Funding
Abstract
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome. Here we provide evidence of the contribution of USP9X missense and small in-frame deletion variants in USP9X-female syndrome also. We scrutinise the pathogenicity of eleven such variants, ten of which were novel. Combined application of variant prediction algorithms, protein structure modelling, and assessment under clinically relevant guidelines universally support their pathogenicity. The core phenotype of this cohort overlapped with previous descriptions of USP9X-female syndrome, but exposed heightened variability. Aggregate phenotypic information of 35 currently known females with predicted pathogenic variation in USP9X reaffirms the clinically recognisable USP9X-female syndrome, and highlights major differences when compared to USP9X-male associated neurodevelopmental disorders.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.