Evidence map›Paper›PMID 41367487›Full record

ArticleHuman mutation2025

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Stefan Rentas, Ramakrishnan Rajagopalan, Tolga Ayazseven, Mahdi Sarmady, Sarah E Raible, Ian D Krantz, Ahmad N Abou Tayoun

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 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. 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.

Stefan RentasDepartment of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.ORCID 0000-0002-3189-7899
Ramakrishnan RajagopalanDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Tolga AyazsevenDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Mahdi SarmadyDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-6069-804X
Sarah E RaibleDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ian D KrantzDivision of Medical Genetics, Cohen Children's Medical Center, Northwell Health, New York, New York, USA.ORCID 0000-0003-2442-1128
Ahmad N Abou TayounDubai Health Genomic Medicine Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.ORCID 0000-0002-9134-1673

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic testing is essential to the diagnosis of nonsyndromic bilateral sensorineural hearing loss (BSNHL), where pathogenic variants in Methods: A retrospective cohort of 23 individuals with BSNHL and a heterozygous pathogenic variant in Results: Three individuals were diagnosed with biallelic pathogenic variants upon Conclusion: GS improves diagnostic yield in patients with BSNHL, capturing both SNVs and CNVs missed by ES and targeted testing, and supports its adoption as a comprehensive first-tier diagnostic test for nonsyndromic hearing loss.

Indexed as

Hearing Loss, SensorineuralWhole Genome SequencingAdolescentAdultChildChild, PreschoolConnexin 26ConnexinsDeafnessExome SequencingFemaleGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHeterozygoteHumansConnexin 26ConnexinsGJB2 protein, human

Identifiers

PMID41367487
PMCPMC12685424

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Registered trials

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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.