Evidence map›Paper›PMID 39428589›Full record

ReviewThe Journal of laryngology and otology2025

Congenital hearing loss: introduction of the R67 large gene panel in England.

Ahmed Fazili, Hannah Blanchford, Kostas Tsioulos

Abstract readReview
In one paragraph

Review in The Journal of laryngology and otology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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 · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Ahmed FaziliSt George's University of London, London, UK.ORCID https://orcid.org/0000-0002-4717-4898
Hannah BlanchfordDepartment of Audiovestibular Medicine, St George's Hospital, London, UK.
Kostas TsioulosDepartment of Audiovestibular Medicine, St George's Hospital, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.

aimThis review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.

conclusionThe use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.

Indexed as

DeafnessHearing Loss, SensorineuralEnglandGenetic TestingGenome, HumanHumansdiagnostic techniquesgeneticshearing lossinner earotologicalsensorineural hearing loss

Identifiers

PMID39428589
PMCPMC12303711

What OpenQuestion holds

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Registered trials

None linked

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.