Evidence map›Paper›PMID 35875410›Full record

ArticleOtolaryngology case reports2021

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.

T Morlet, K M Robbins, D Stabley, J Holbrook, University of Washington Center for Mendelian Genomics, K Sol-Church, R C O'Reilly

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

Article in Otolaryngology case reports, 2021. 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, top 89% 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, 1 citations in OpenAlex.

  1. Article
  2. Identification of NovelJournal of otology · 2026
    Article
  3. [Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025
    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

7 authors at 3 institutions in 1 country.

T MorletNemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
K M RobbinsNemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
D StableyNemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
J HolbrookNemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
University of Washington Center for Mendelian Genomics
K Sol-ChurchDepartment of Pathology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.
R C O'ReillyDivision of Otolaryngology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd. Philadelphia, PA, 19104, USA.
Alfred I. duPont Hospital for Children · USChildren's Hospital of Philadelphia · USUniversity of Virginia · US

Funding

Predictive Modeling & Optimal Control Framework for Model-Based Epidemic Response in DelawareP20GM103446 · NIGMS · UNIVERSITY OF DELAWARE · PI MELINDA K DUNCAN · 2012 to 2026
$67.2M
UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Center for Pediatric Research Pilot ProgramP30GM114736 · NIGMS · NEMOURS CHILDREN'S HOSPITAL, DELAWARE · PI SHAFFER, THOMAS H · 2015 to 2019
$5.1M
NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NIGMS NIH HHS P20 GM103446NIGMS NIH HHS P30 GM114736
6 · The paper itself

Abstract

Objectives: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in Methods: Genetic testing was conducted on three related children. They were assessed with a standard clinical test battery including distortion otoacoustic emissions, auditory brainstem responses and audiometry. Results: We identified heterozygous variants in Conclusion: To our knowledge, this is the first association between

Indexed as

Auditory neuropathyCochlear implantsCochlear microphonicLOXHD1

Identifiers

PMID35875410
PMCPMC9307087
OpenAlexW3206962389

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.