Evidence map›Paper›PMID 39062005›Full record

ArticleBiomedicines2024

Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.

Nam K Lee, Kristin M Uhler, Patricia J Yoon, Regie Lyn P Santos-Cortez

Abstract read
In one paragraph

Article in Biomedicines, 2024. 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
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

4 authors.

Nam K LeeDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-4888-3343
Kristin M UhlerDepartment of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.ORCID 0000-0002-0040-6479
Patricia J YoonDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Regie Lyn P Santos-CortezDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Funding

Institutional Training in Otolaryngology ResearchT32DC012280 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI Yuri Agrawal, Sue C. Kinnamon · 2013 to 2026
$3.4M
Genetic and epigenomic determinants of hearing loss in Hispanic populationsR01DC019642 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI SANTOS-CORTEZ, REGIE LYN PASTOR, YANG, IVANA V · 2021 to 2025
$3.4M
NIDCD NIH HHS R01 DC019642NIDCD NIH HHS T32 DC012280
6 · The paper itself

Abstract

Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has improved our understanding of auditory physiology and potential therapeutic targets. Hearing loss gene panels offer comprehensive genetic testing for hereditary hearing loss, and advancements in sequencing technology have made genetic testing more accessible and affordable. Currently, genetic panel tests available at a relatively lower cost are offered to patients who face financial barriers. In this study, clinical and audiometric data were collected from six pediatric patients who underwent genetic panel testing. Known pathogenic variants in

Indexed as

congenitalgenetic panel testinghearing losshereditarynovel variantsensorineural

Identifiers

PMID39062005
PMCPMC11274279

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.