Evidence map›Paper›PMID 39734360›Full record

ArticleAdvanced genetics (Hoboken, N.J.)2024

Extreme Phenotypic Variability of

Maria T Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A Marti and 7 more

Abstract read
In one paragraph

Article in Advanced genetics (Hoboken, N.J.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Extreme Phenotypic Variability ofAdvanced genetics (Hoboken, N.J.) · 2024
    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

17 authors.

Maria T BernardiInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.
Memoona RamzanJohn P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL 33136 USA.
Laura CalderonHospital de Niños Dr. R. Gutierrez Buenos Aires 1330 Argentina.
Franco SalvatoreInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.
Maria Agustina De RosaInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.
Stephanie BivonaDr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami FL 33136 USA.
Romina ArmandoSección Genética Médica Hospital de Niños Dr. R. Gutierrez Buenos Aires 1330 Argentina.
Natalia VazquezSección Genética Médica Hospital de Niños Dr. R. Gutierrez Buenos Aires 1330 Argentina.
Maria Esnaola AzcoitiCentro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET - FEI - División de Endocrinología Hospital de Niños Ricardo Gutiérrez Buenos Aires 1330 Argentina.
Marcelo A MartiInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.
Claudia ArberasSección Genética Médica Hospital de Niños Dr. R. Gutierrez Buenos Aires 1330 Argentina.
Maria Gabriela RopelatoCentro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET - FEI - División de Endocrinología Hospital de Niños Ricardo Gutiérrez Buenos Aires 1330 Argentina.
Silvina OlhaHospital de Niños Dr. R. Gutierrez Buenos Aires 1330 Argentina.
Byron L LamBascom Palmer Eye Institute University of Miami Miller School of Medicine Miami FL 33136 USA.
Fred F TelischiDepartments of Otolaryngology Neurological Surgery and Biomedical Engineering Miller School of Medicine University of Miami Miami FL 33136 USA.
Mustafa TekinJohn P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL 33136 USA.
Katherina WalzInstituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.ORCID https://orcid.org/0000-0002-1296-5286

Funding

A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
Genetic Studies of Inner Ear AnomaliesR01DC012836 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA · 2013 to 2017
$3.2M
NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012836
6 · The paper itself

Abstract

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in

Indexed as

ACTG1hearing loss

Identifiers

PMID39734360
PMCPMC11672310

What OpenQuestion holds

Textmetadata
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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.