Evidence map›Paper›PMID 40389292›Full record

ArticleBMJ case reports2025

Novel variant in

Yu An, Dylan Chan, Robert Wallerstein

Abstract read
In one paragraph

Article in BMJ case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Yu AnMedical Genetics, Department of Pediatrics, UCSF Medical Center, San Francisco, California, USA.ORCID http://orcid.org/0009-0004-5788-2996
Dylan ChanDepartment of Otolaryngology-Head and Neck Surgery, University of California San Francisco, San Francisco, California, USA.ORCID http://orcid.org/0000-0003-0836-3730
Robert WallersteinMedical Genetics, Department of Pediatrics, UCSF Medical Center, San Francisco, California, USA Robert.wallerstein@ucsf.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The case report investigates sensorineural hearing loss (SNHL) in three siblings from a consanguineous Afghani family, with a particular focus on the novel variant in the

Indexed as

Hearing Loss, SensorineuralAfghanistanConsanguinityFemaleHumansMalePedigreeSiblingsEar, nose and throat/otolaryngologyGeneticsGenetic screening / counselling

Identifiers

PMID40389292
PMCPMC12093457

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.