Evidence map›Paper›PMID 40565546›Full record

ArticleGenes2025

Replication of Missense

Giselle Bianco-Bortoletto, Geovana Almeida-Carneiro, Helena Fabbri-Scallet, Alberto M Parra-Perez, Karen de Carvalho Lopes, Tatiana de Almeida Lima Sá Vieira, Fernando Freitas Ganança, Juan Carlos Amor-Dorado, Andres Soto-Varela, Jose A Lopez-Escamez and 1 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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

11 authors.

Giselle Bianco-BortolettoMeniere Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, NSW 2064, Australia.ORCID 0000-0002-1762-6988
Geovana Almeida-CarneiroDepartment of Biochemistry and Tissue Biology, Laboratory of Paracrine Signalling in Tissue Organisation-SPOT, Programa de Pós-Graduação em Biologia Molecular e Morfofuncional, Biology Institute, State University of Campinas-UNICAMP, Campinas 13083-862, SP, Brazil.ORCID 0009-0000-2715-3670
Helena Fabbri-ScalletLaboratory of Human Molecular Genetics, Center for Molecular Biology and Genetic Engineering-CBMEG, State University of Campinas-UNICAMP, Campinas 13083-875, SP, Brazil.
Alberto M Parra-PerezMeniere Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, NSW 2064, Australia.ORCID 0000-0003-1208-8348
Karen de Carvalho LopesDepartment of Otolaryngology and Head and Neck Surgery, Federal University of São Paulo, São Paulo 04038-032, SP, Brazil.
Tatiana de Almeida Lima Sá VieiraDepartment of Otolaryngology and Head and Neck Surgery, Federal University of São Paulo, São Paulo 04038-032, SP, Brazil.
Fernando Freitas GanançaDepartment of Otolaryngology and Head and Neck Surgery, Federal University of São Paulo, São Paulo 04038-032, SP, Brazil.ORCID 0000-0002-8703-9818
Juan Carlos Amor-DoradoDepartment of Otolaryngology, Hospital Can Misses, 07800 Ibiza, Spain.ORCID 0000-0001-9749-8607
Andres Soto-VarelaDivision of Neurotology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, 15706 Santiago de Compostela, Spain.ORCID 0000-0001-6763-329X
Jose A Lopez-EscamezMeniere Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, NSW 2064, Australia.ORCID 0000-0002-8583-1430
Edi Lucia SartoratoLaboratory of Human Molecular Genetics, Center for Molecular Biology and Genetic Engineering-CBMEG, State University of Campinas-UNICAMP, Campinas 13083-875, SP, Brazil.

Funding

Asociación Sindrome de Meniere España (ASMES) CLINMON2Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) 141196/2021-1Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) 001Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) 2014/50897-0The University of Sydney K7013_B3413
6 · The paper itself

Abstract

Ménière's Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies by region and ethnicity, with scarce epidemiological data in the Brazilian population. Although most MD cases are sporadic, familial MD (FMD) is observed in 5% to 20% of European cases. Through exome sequencing, we have found a rare missense variant in the

Indexed as

Meniere DiseaseMutation, MissenseAdultBrazilExome SequencingFemaleHumansMaleMiddle AgedPedigreehearing lossMeniere diseasemolecular bioinformaticsOTOG gene

Identifiers

PMID40565546
PMCPMC12193698

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.