ArticleGenes2019
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 59 citations in OpenAlex.
- Trial
- Association of GJB2 P.V37I With Sudden Sensorineural Hearing Loss and Endoplasmic Reticulum Stress.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2026Article
- A UniqueInternational journal of molecular sciences · 2026Article
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.The Journal of clinical investigation · 2026Article
- Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Hearing loss secondary to novel variants of the KCNQ4 gene.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Observational
- Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of theInternational journal of molecular sciences · 2025Article
- Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.Molecular medicine (Cambridge, Mass.) · 2025Article
- [The natural history of the relationship betweenLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.PloS one · 2025Article
- Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.Biomedicines · 2024Article
- Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.Genes · 2024Article
- Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.BMC medical genomics · 2024Article
- Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.BMC medical genomics · 2024Article
- Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.Asian biomedicine : research, reviews and news · 2024Article
- Article
- Article
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.BMC medical genomics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.
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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.