ReviewOtolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery2015
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.
Review in Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
80 citing papers in PubMed.
- Trial
- NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.Journal of applied genetics · 2026Article
- Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery · 2026Article
- The prevalence of protein misfolding as a mechanism for hereditary deafness.PLoS genetics · 2026Article
- Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.Biochemical genetics · 2026Article
- Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clinical genetics · 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
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- A Structural Variant in the 5' Regulatory Region ofInternational archives of otorhinolaryngology · 2026Article
- Etiology-Driven Personalized Cochlear Implantation: Implications for Electrode Choice, Timing, and Outcomes.Journal of personalized medicine · 2026Review
- Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.Frontiers in genetics · 2026Article
- A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.Neural plasticity · 2026Article
- Review
- Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.European journal of human genetics : EJHG · 2025Article
- Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.Journal of community genetics · 2025Article
- Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.Scientific reports · 2025Article
- Parent experiences with genetic testing for pediatric hearing loss.Journal of genetic counseling · 2025Article
- Whole exome sequencing reveals novel and rare variants in nonsyndromic hearing loss-related genes: A focus onJournal of biosciences · 2025Article
- Editorial: Genetics of non-syndromic hearing loss.Frontiers in genetics · 2025Article
- Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.Heliyon · 2024Article
20 more citing papers are in PubMed but not listed here.
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
Abstract
objectiveTo evaluate the use of new genetic sequencing techniques for comprehensive genetic testing for hearing loss. DATA SOURCES: Articles were identified from PubMed and Google Scholar databases using pertinent search terms. REVIEW
methodsLiterature search identified 30 studies as candidates that met search criteria. Three studies were excluded, and 8 studies were found to be case reports. Twenty studies were included for review analysis, including 7 studies that evaluated controls and 16 studies that evaluated patients with unknown causes of hearing loss; 3 studies evaluated both controls and patients.
conclusionsIn the 20 studies included in the review analysis, 426 control samples and 603 patients with unknown causes of hearing loss underwent comprehensive genetic diagnosis for hearing loss using massively parallel sequencing. Control analysis showed a sensitivity and specificity >99%, sufficient for clinical use of these tests. The overall diagnostic rate was 41% (range, 10%-83%) and varied based on several factors, including inheritance and prescreening prior to comprehensive testing. There were significant differences in platforms available with regard to the number and type of genes included and whether copy number variations were examined. Based on these results, comprehensive genetic testing should form the cornerstone of a tiered approach to clinical evaluation of patients with hearing loss along with history, physical examination, and audiometry and can determine further testing that may be required, if any. IMPLICATIONS FOR PRACTICE: Comprehensive genetic testing has become the new standard of care for genetic testing for patients with sensorineural hearing loss.
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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.