Evidence map›Paper›PMID 35052489›Full record

ArticleGenes2022

Novel Pathogenic Variants in

María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D Rendtorff, Miguel A Moreno-Pelayo, Lisbeth Tranebjaerg and 3 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.8field-weighted citation impact, top 17% 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

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Effects of electrical stimulation rate in genetically confirmed pre- and post-Synaptic auditory neuropathy in children.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Trial
  2. Review
  3. Review
  4. Article
  5. [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
  6. Pyroptosis in health and disease.American journal of physiology. Cell physiology · 2024
    Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Review
  12. Article
  13. 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

13 authors at 5 institutions in 3 countries.

María Domínguez-RuizServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0002-7583-0370
Montserrat Rodríguez-BallesterosServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Marta GandíaServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Elena Gómez-RosasServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Manuela VillamarServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Pietro ScimemiDepartment of Neurosciences, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-5273-1938
Patrizia ManciniDepartment of Sense Organs, University La Sapienza, 00162 Rome, Italy.ORCID 0000-0003-0982-0905
Nanna D RendtorffDepartment of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark.
Miguel A Moreno-PelayoServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-3839-5098
Lisbeth TranebjaergDepartment of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark.
Carme MedàUnidad de Prevención de Enfermedades del Oído, Conselleria de Salut, Illes Balears, 07120 Palma de Mallorca, Spain.
Rosamaria SantarelliDepartment of Neurosciences, University of Padua, 35121 Padua, Italy.ORCID 0000-0001-7730-3446
Ignacio Del CastilloServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-1188-3665
Centre for Biomedical Network Research on Rare Diseases · ESUniversity of Padua · ITKennedy Center · DKSapienza University of Rome · ITUniversity of Copenhagen · DK

Funding

PREVENTING YOUTHFUL DRUG ABUSE: A LONGITUDINAL STUDYR01DA003721 · NIDA · UNIVERSITY OF WASHINGTON · PI HAWKINS, J DAVID · 1985 to 1992
–
6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

MutationAdolescentChildChild, PreschoolFemaleGasderminsGenetic Association StudiesHearing LossHearing Loss, CentralHumansInfantMaleNerve Tissue ProteinsPedigreeGasderminsNerve Tissue ProteinsPJVK protein, humanauditory neuropathy spectrum disorderDFNB59genetic epidemiologynon-syndromic hearing impairmentpejvakinPJVK

Identifiers

PMID35052489
PMCPMC8775161
OpenAlexW4206424969

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.