In one paragraphArticle in International journal of molecular sciences, 2025. 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
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
14 authors.
Elvis Twumasi AboagyeDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0002-2994-3761 Samuel Mawuli AdadeyDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0002-1993-2786 Leonardo Alves de Souza RiosDepartment of Pathology, Division of Haematology, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0002-8298-2399 Kevin K EsohDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
Edmond Wonkam-TingangDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0003-3625-5059 Lettilia XhakazaDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0001-8403-7182 Carmen De KockDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0002-4509-3162 Isabelle SchrauwenDepartment of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.ORCID 0000-0001-7310-6082 Lucas Amenga-EtegoWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Legon, Accra LG 54, Ghana.ORCID 0000-0003-4468-0506 Dirk LangDepartment of Human Biology, Division of Cell Biology, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0003-3901-2079 Gordon A AwandareWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Legon, Accra LG 54, Ghana.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Shaheen MowlaDepartment of Pathology, Division of Haematology, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0001-6802-0495 Ambroise WonkamDepartment of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0003-1420-9051 Funding
Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7MIdentification and Functional Evaluation of Autosomal Recessive Nonsyndromic Hearing Impairment Genes in sub-Saharan AfricansR01DC016593 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2018 to 2022
$2.7MHearing Impairment Genetics Studies in Africa (HI-GENES Africa)U01HG009716 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$1.2MISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345kNHGRI NIH HHS U01 HG009716NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC016593NIDCD NIH HHS R29 DC003594NIH HHS 1C06DC003594-21A1NIH HHS 1U01HG009716-21A1Wellcome TrustWellcome Trust and African Academy of Sciences H3A/18/001World Bank African Centre of Excellence PhD fellowship WACCBIP+NCDs
6 · The paper itselfAbstract
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes of three affected siblings presenting non-syndromic (NS) HL and five unaffected members of a consanguineous Ghanaian family. Analysis of exome sequence data was performed for all affected and one unaffected family members. In-depth genetic and cellular characterization studies were performed to investigate biological significance of the implicated variant using bioinformatic tools and cell-based experimentation. Audiological examinations showed severe-to-profound, bilateral, symmetrical, and post-lingual onset. The whole-exome sequencing (WES) identified a homozygous frameshift variant: MARVEL domain containing 2 (
Indexed as
Hearing LossMembrane ProteinsAdultAllelesChildConsanguinityExome SequencingFemaleFrameshift MutationGhanaHumansMalePedigreePhenotypeMembrane ProteinsAfricaconsanguinityGhanaMARVELD2non-syndromic hearing losswhole-exome sequencing
Identifiers
PMID40244166
PMCPMC11989440
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