Evidence map›Paper›PMID 36672845›Full record

ArticleGenes2022

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Thomas Clabout, Laurence Maes, Frederic Acke, Wim Wuyts, Kristof Van Schil, Paul Coucke, Sandra Janssens, Els De Leenheer

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 45% of its field
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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
    Review
  2. Review
  3. Review
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

8 authors at 3 institutions in 1 country.

Thomas ClaboutFaculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.
Laurence MaesFaculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.ORCID 0000-0003-3971-760X
Frederic AckeDepartment of Otorhinolaryngology, Ghent University Hospital, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.ORCID 0000-0001-6312-4260
Wim WuytsCenter of Medical Genetics, Antwerp University Hospital and University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.ORCID 0000-0002-4349-9038
Kristof Van SchilCenter of Medical Genetics, Antwerp University Hospital and University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.
Paul CouckeCenter for Medical Genetics, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.
Sandra JanssensCenter for Medical Genetics, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.ORCID 0000-0001-7262-3715
Els De LeenheerDepartment of Otorhinolaryngology, Ghent University Hospital, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.ORCID 0000-0002-2789-3529
Ghent University Hospital · BEGhent University · BEUniversity of Antwerp · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital hearing loss has an impact on almost every facet of life. In more than 50% of cases, a genetic cause can be identified. Currently, extensive genetic testing is available, although the etiology of some patients with obvious familial hearing loss remains unknown. We selected a cohort of mutation-negative patients to optimize the diagnostic yield for genetic hearing impairment. In this retrospective study, 21 patients (17 families) with negative molecular diagnostics for non-syndromic hearing loss (gene panel analysis) were included based on a positive family history with a similar type of hearing loss. Additional genetic testing was performed using a whole exome sequencing panel (WESHL panel v2.0) in four families with the strongest likelihood of genetic hearing impairment. In this cohort (

Indexed as

DeafnessHearing LossHearing Loss, SensorineuralHumansIntercellular Signaling Peptides and ProteinsPathology, MolecularRetrospective StudiesIntercellular Signaling Peptides and ProteinsSTRC protein, humancongenital hearing lossdeafnessexome sequencingmolecular diagnosticsSTRC gene

Identifiers

PMID36672845
PMCPMC9859074
OpenAlexW4313409602

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.