Evidence map›Paper›PMID 34946889›Full record

ArticleGenes2021

Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.

Irum Badshah Saleem, Muhammad Shareef Masoud, Muhammad Qasim, Muhammad Ali, Zubair M Ahmed

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 53% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

5 authors at 3 institutions in 2 countries.

Irum Badshah SaleemDepartment of Bioinformatics and Biotechnology, Government College University, Faisalabad 38000, Pakistan.
Muhammad Shareef MasoudDepartment of Bioinformatics and Biotechnology, Government College University, Faisalabad 38000, Pakistan.ORCID 0000-0003-2395-7721
Muhammad QasimDepartment of Bioinformatics and Biotechnology, Government College University, Faisalabad 38000, Pakistan.
Muhammad AliDepartment of Animal Sciences, Quaid-e-Azam University, Islamabad 46000, Pakistan.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
Government College University, Faisalabad · PKQuaid-i-Azam University · PKUniversity of Maryland, Baltimore · US

Funding

Molecular Determinants of Usher Syndrome Disorder in HumansR01DC016295 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2018 to 2022
$2.7M
NIDCD NIH HHS R01 DC016295NIDCD NIH HHS R01DC016295
6 · The paper itself

Abstract

Hearing loss (HL) is the most common neurosensory defect in humans that affects the normal communication. Disease is clinically and genetically heterogeneous, rendering challenges for the molecular diagnosis of affected subjects. This study highlights the phenotypic and genetic complexity of inherited HL in a large consanguineous Pakistan kindred. Audiological evaluation of all affected individuals revealed varying degree of mild to profound sensorineural HL. Whole exome (WES) of four family members followed by Sanger sequencing revealed candidate disease-associated variants in five known deafness genes:

Indexed as

Aged, 80 and overComputational BiologyDeafnessFamilyFemaleHearing LossHumansInheritance PatternsMaleMiddle AgedPakistanPedigreeProtein Structure, SecondarySulfate TransportersSLC26A4 protein, humanSulfate TransportersCDH23digenicgenetic heterogeneityGJB2hearing lossKCNQ4MPDZSLC26A4whole exome sequencing

Identifiers

PMID34946889
PMCPMC8702217
OpenAlexW3215580949

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.