Evidence map›Paper›PMID 32842620›Full record

ArticleGenes2020

Novel Mutations in

Saba Zafar, Mohsin Shahzad, Rafaqat Ishaq, Ayesha Yousaf, Rehan S Shaikh, Javed Akram, Zubair M Ahmed, Saima Riazuddin

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

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. 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

8 authors at 4 institutions in 2 countries.

Saba ZafarInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan.
Mohsin ShahzadDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Rafaqat IshaqDepartment of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Ayesha YousafInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan.
Rehan S ShaikhInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan.ORCID 0000-0003-3648-6965
Javed AkramUniversity of Health Sciences, Lahore 54600, Pakistan.
Zubair M AhmedDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.ORCID 0000-0003-2914-4502
Saima RiazuddinDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Bahauddin Zakariya University · PKShaheed Zulfiqar Ali Bhutto Institute of Science and Technology · PKUniversity of Health Sciences Lahore · PKUniversity of Maryland, Baltimore · US

Funding

Genetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026
$4.7M
Molecular Determinants of Usher Syndrome Disorder in HumansR01DC016295 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2018 to 2022
$2.7M
Identifying Genes for Non-syndromic Recessive Deafness-A Collaborative StudyR01DC011803 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI RIAZUDDIN, SAIMA · 2012 to 2016
$1.6M
Identifying Genes for Non-Syndromic Recessive Deafness-A Collaborative StudyR56DC011803 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI RIAZUDDIN, SAIMA · 2017 to 2017
$638k
NIDCD NIH HHS R01 DC011803NIDCD NIH HHS R01DC016295NIDCD NIH HHS R56DC011803NINDS NIH HHS R01 NS107428
6 · The paper itself

Abstract

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257G>A, c.6083A>C, c.89A>G, and c.1249A>G of

Indexed as

Genetic Predisposition to DiseaseMutationAdolescentAdultAmino Acyl-tRNA SynthetasesCadherin Related ProteinsCadherinsChildChild, PreschoolCollagen Type IVDeafnessEndopeptidase ClpExome SequencingFemaleGenetic TestingHumansAmino Acyl-tRNA SynthetasesCadherin Related ProteinsCadherinsCDH23 protein, humanClpP protein, humanCOL4A5 protein, humanCollagen Type IVEndopeptidase ClpLARS2 protein, humangenetic heterogeneitygenetic testingPakistanprelingual hearing losswhole-exome sequencing

Identifiers

PMID32842620
PMCPMC7564084
OpenAlexW3080881109

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.