Evidence map›Paper›PMID 33715530›Full record

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

A novel variant in

Edmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K Esoh, Thashi Bharadwaj, Liz M Nouel-Saied, Anushree Acharya, Abdul Nasir, Suzanne M Leal, Ambroise Wonkam

Erratum issuedOpen access · greenAbstract readCase Reports
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. An erratum has been issued. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

11 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
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  4. Review
  5. DMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 3 countries.

Edmond Wonkam-TingangDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
Isabelle SchrauwenCenter for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Kevin K EsohDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0002-4024-5681
Thashi BharadwajCenter for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.ORCID 0000-0002-7870-5655
Liz M Nouel-SaiedCenter for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.ORCID 0000-0003-0378-7788
Anushree AcharyaCenter for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Abdul NasirSynthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea.ORCID 0000-0002-2339-3500
Suzanne M LealCenter for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Ambroise WonkamDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0003-1420-9051
Columbia University Irving Medical Center · USUniversity of Cape Town · ZAAjou University · KR

Funding

WOUND HEALING IN INDIVIDUALS OF DIFFERENT AGE AND GENETIC BACKGROUNDM01RR000102 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 1985 to 2006
$32.8M
Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Localization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
$2.9M
Identification 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
$2.7M
Hearing Impairment Genetics Studies in Africa (HI-GENES Africa)U01HG009716 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$1.2M
ISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345k
NCRR NIH HHS M01 RR000102NHGRI NIH HHS U01 HG009716NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC011651NIDCD NIH HHS R01 DC016593NIDCD NIH HHS R29 DC003594Wellcome Trust
6 · The paper itself

Abstract

Approximately half of congenital hearing impairment cases are inherited, with non-syndromic hearing impairment (NSHI) being the most frequent clinical entity of genetic hearing impairment cases. A family from Cameroon with NSHI was investigated by performing exome sequencing using DNA samples obtained from three family members, followed by direct Sanger sequencing in additional family members and controls participants. We identified an autosomal dominantly inherited novel missense variant [NM_001174116.2:c.918G>T; p.(Q306H)] in

Indexed as

Adaptor Proteins, Signal TransducingAdultChildFemaleGenes, DominantHearing Loss, SensorineuralHumansMaleMutation, MissenseNerve Tissue ProteinsPedigreeAdaptor Proteins, Signal TransducingDMXL2 protein, humanNerve Tissue ProteinsAfricaautosomal dominant inheritanceDMXL2Non-syndromic hearing impairment

Identifiers

PMID33715530
PMCPMC8283254
OpenAlexW3135735121

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.