ReviewAudiology research2022
Usher Syndrome.
Review in Audiology research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children - Part I ‒ Evaluation.Brazilian journal of otorhinolaryngologyGuideline
- Review
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.Molecular genetics & genomic medicine · 2026Article
- Single-cell analysis reveals impaired Müller glia-mediated intercellular communication and photoreceptor pathology in USH1C retinal organoids.Cellular and molecular life sciences : CMLS · 2026Article
- Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions.Children (Basel, Switzerland) · 2026Article
- Identification of a recessiveVeterinary and animal science · 2026Article
- Two Novel Compound HeterozygousInternational journal of general medicine · 2026Article
- Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction.Frontiers in medicine · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Listening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome-Our Experience.Audiology research · 2025Article
- [Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- [Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning.Biomolecules · 2025Article
- Machine Learning-Based Ensemble Feature Selection and Nested Cross-Validation for miRNA Biomarker Discovery in Usher Syndrome.Bioengineering (Basel, Switzerland) · 2025Article
- A review of the 661W cell line as a tool to facilitate treatment development for retinal diseases.Cell & bioscience · 2025Review
- Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.Genes · 2025Review
- Identification of NovelHuman mutation · 2025Article
- Loss of Usher II Proteins in Mice Does Not Affect Photoreceptor Ultrastructure.Advances in experimental medicine and biology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated:
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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.