Evidence map›Paper›PMID 37543941›Full record

ArticleArchives of Iranian medicine2023

An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the

Marzieh Mohseni, Yusuf Mohammadi, Farzane Zare Ashrafi, Fatemeh Ghodratpour, Khadijeh Jalalvand, Sanaz Arzhangi, Mojgan Babanejad, Mohammad Hossein Azizi, Kimia Kahrizi, Hossein Najmabadi

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In one paragraph

Article in Archives of Iranian medicine, 2023. 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
1.2field-weighted citation impact, top 24% 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

0 citing papers in PubMed, 6 citations in OpenAlex.

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

10 authors at 2 institutions in 1 country.

Marzieh MohseniGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.ORCID 0000-0003-1200-4044
Yusuf MohammadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.ORCID 0000-0003-0177-369X
Farzane Zare AshrafiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Fatemeh GhodratpourGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Khadijeh JalalvandGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Sanaz ArzhangiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mojgan BabanejadGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mohammad Hossein AziziAssociate Professor of Otolaryngology, Academy of Medical Sciences of IR Iran, Tehran, Iran.
Kimia KahriziGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hossein NajmabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.ORCID 0000-0002-6084-7778
University of Social Welfare and Rehabilitation Sciences · IRIranian Academy of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the

Indexed as

DeafnessHearing Loss, SensorineuralCodon, NonsenseForminsHumansIranMutationPedigreeCodon, NonsenseDIAPH1 protein, humanForminsDIAPH1Exome sequencingIranNon syndromic hearing loss

Identifiers

PMID37543941
PMCPMC10685723
OpenAlexW4385432671

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.