Evidence map›Paper›PMID 32996353›Full record

ArticleExperimental biology and medicine (Maywood, N.J.)2021

Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.

Oluwafemi G Oluwole, Kevin K Esoh, Edmond Wonkam-Tingang, Noluthando Manyisa, Jean Jacques Noubiap, Emile R Chimusa, Ambroise Wonkam

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

Article in Experimental biology and medicine (Maywood, N.J.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. The identification of novel missense variant inOpen medicine (Warsaw, Poland) · 2025
    Article
  3. Article
  4. Article
  5. Review
  6. A novel variant inExperimental biology and medicine (Maywood, N.J.) · 2021
    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

7 authors at 2 institutions in 2 countries.

Oluwafemi G OluwoleDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.ORCID 0000-0003-2010-1709
Kevin K EsohDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.ORCID 0000-0002-4024-5681
Edmond Wonkam-TingangDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.
Noluthando ManyisaDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.
Jean Jacques NoubiapCentre for Heart Rhythm Disorders, South Australian Health and Medical Research Institute (SAHMRI), University of Adelaide and Royal Adelaide Hospital, Adelaide 5000, Australia.
Emile R ChimusaDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.
Ambroise WonkamDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.ORCID 0000-0003-1420-9051
University of Cape Town · ZARoyal Adelaide Hospital · AU

Funding

Sickle Africa Data Coordinating CenterU24HL135600 · NHLBI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA, WONKAM, AMBROISE · 2017 to 2025
$8.6M
Hearing Impairment Genetics Studies in Africa (HI-GENES Africa)U01HG009716 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$1.2M
NHGRI NIH HHS U01 HG009716NHLBI NIH HHS U24 HL135600Wellcome Trust
6 · The paper itself

Abstract

Physiologically, the human and murine hearing systems are very similar, justifying the extensive use of mice in experimental models for hearing impairment (HI). About 340 murine HI genes have been reported; however, whether variants in all human-mouse ortholog genes contribute to HI has been rarely investigated. In humans, nearly 120 HI genes have been identified to date, with

Indexed as

Exome SequencingAdolescentAdultAnimalsAnion Transport ProteinsBlack PeopleCell Cycle ProteinsChildChild, PreschoolCytoskeletal ProteinsGene Expression RegulationGene Regulatory NetworksGenetics, PopulationGenetic VariationHearing LossHumansAnion Transport ProteinsCell Cycle ProteinsCytoskeletal ProteinsMCPH1 protein, humanRNASpns2 protein, humanAfrican populationsHearing impairmenthuman-mouse ortholog geneswhole-exome sequencing

Identifiers

PMID32996353
PMCPMC7871117
OpenAlexW3089382671

What OpenQuestion holds

Textmetadata
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.