Evidence map›Paper›PMID 37107589›Full record

ArticleGenes2023

Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Angelo Augusto M Sumalde, Melissa A Scholes, Olivia A Kalmanson, Elizabeth A Terhune, Lidia Frejo, Cambria I Wethey, Pablo Roman-Naranjo, Patrick M Carry, Samuel P Gubbels, Jose A Lopez-Escamez and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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
0.6field-weighted citation impact, top 33% 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, 5 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

12 authors at 6 institutions in 4 countries.

Angelo Augusto M SumaldeDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Melissa A ScholesDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Olivia A KalmansonDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-0130-0684
Elizabeth A TerhuneDepartment of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Lidia FrejoOtology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer-University of Granada-Junta de Andalucia, PTS, 18016 Granada, Spain.ORCID 0000-0002-6104-0941
Cambria I WetheyDepartment of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Pablo Roman-NaranjoOtology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer-University of Granada-Junta de Andalucia, PTS, 18016 Granada, Spain.ORCID 0000-0002-3066-9317
Patrick M CarryDepartment of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Samuel P GubbelsDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Jose A Lopez-EscamezOtology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer-University of Granada-Junta de Andalucia, PTS, 18016 Granada, Spain.ORCID 0000-0002-8583-1430
Nancy Hadley-MillerDepartment of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Regie Lyn P Santos-CortezDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
University of Colorado Anschutz Medical Campus · USChildren's Hospital Colorado · USUniversidad de Granada · ESPhilippine General Hospital · PHThe University of Sydney · AUUniversity of Mississippi Medical Center · US

Funding

Institutional Training in Otolaryngology ResearchT32DC012280 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI Yuri Agrawal, Sue C. Kinnamon · 2013 to 2026
$3.4M
Genetic and epigenomic determinants of hearing loss in Hispanic populationsR01DC019642 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI SANTOS-CORTEZ, REGIE LYN PASTOR, YANG, IVANA V · 2021 to 2025
$3.4M
Inner Ear Progenitor and Hair Cell-like Cells From Human Pluripotent Stem CellsR01DC013912 · NIDCD · UNIVERSITY OF WISCONSIN-MADISON · PI GUBBELS, SAMUEL P · 2014 to 2018
$1.9M
Familial idiopathic scoliosis: gene discovery and functional studiesR01AR068292 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI HADLEY-MILLER, NANCY · 2015 to 2019
$1.7M
NIAMS NIH HHS R01 AR068292NIDCD NIH HHS R01 DC013912NIDCD NIH HHS R01 DC019642NIDCD NIH HHS T32 DC012280
6 · The paper itself

Abstract

Vertigo due to vestibular dysfunction is rare in children. The elucidation of its etiology will improve clinical management and the quality of life of patients. Genes for vestibular dysfunction were previously identified in patients with both hearing loss and vertigo. This study aimed to identify rare, coding variants in children with peripheral vertigo but no hearing loss, and in patients with potentially overlapping phenotypes, namely, Meniere's disease or idiopathic scoliosis. Rare variants were selected from the exome sequence data of 5 American children with vertigo, 226 Spanish patients with Meniere's disease, and 38 European-American probands with scoliosis. In children with vertigo, 17 variants were found in 15 genes involved in migraine, musculoskeletal phenotypes, and vestibular development. Three genes,

Indexed as

DeafnessMeniere DiseaseMigraine DisordersScoliosisAdolescentAdultAnimalsChildExtracellular Matrix ProteinsHumansMiceQuality of LifeVertigoECM1 protein, humanExtracellular Matrix Proteinsbalance disorderdizzinessHMX3LAMA2Meniere’s diseaseOTOP1rare variantsemicircular canalvertigovestibular

Identifiers

PMID37107589
PMCPMC10137884
OpenAlexW4361273880

What OpenQuestion holds

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Registered trials

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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.