Evidence map›Paper›PMID 38001944›Full record

ArticleBiomedicines2023

Novel Pathogenic Variants in the Gene Encoding Stereocilin (

María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A Moreno-Pelayo, Ana B Elgoyhen and 3 more

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

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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 3 institutions in 2 countries.

María Domínguez-RuizServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.ORCID 0000-0002-7583-0370
Laura Ruiz-PalmeroServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Paula I BuonfiglioLaboratory of Physiology and Genetics of Hearing, Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres", Consejo Nacional de Investigaciones Científicas y Técnicas, Vuelta de Obligado 2490, Ciudad Autónoma de Buenos Aires C1428ADN, Argentina.ORCID 0000-0003-2985-4790
Irene García-VaqueroServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Elena Gómez-RosasServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Marina GoñiServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Manuela VillamarServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Matías MorínServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.ORCID 0000-0002-7985-592X
Miguel A Moreno-PelayoServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.ORCID 0000-0003-3839-5098
Ana B ElgoyhenLaboratory of Physiology and Genetics of Hearing, Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres", Consejo Nacional de Investigaciones Científicas y Técnicas, Vuelta de Obligado 2490, Ciudad Autónoma de Buenos Aires C1428ADN, Argentina.ORCID 0000-0001-9487-0311
Francisco J Del CastilloServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.ORCID 0000-0003-0467-4320
Viviana DalamónLaboratory of Physiology and Genetics of Hearing, Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres", Consejo Nacional de Investigaciones Científicas y Técnicas, Vuelta de Obligado 2490, Ciudad Autónoma de Buenos Aires C1428ADN, Argentina.ORCID 0000-0001-5283-4726
Ignacio Del CastilloServicio de Genética, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.ORCID 0000-0003-1188-3665
Centre for Biomedical Network Research on Rare Diseases · ESHospital Universitario Ramón y Cajal · ESConsejo Nacional de Investigaciones Científicas y Técnicas · AR

Funding

NIMHD NIH HHS L60 MD003721
6 · The paper itself

Abstract

Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in

Indexed as

DFNB16genetic epidemiologynon-syndromic hearing impairmentstereocilinSTRC

Identifiers

PMID38001944
PMCPMC10668944
OpenAlexW4388078399

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.