Evidence map›Paper›PMID 35052432›Full record

ArticleGenes2021

A Novel

Hesham Aldhalaan, Albandary AlBakheet, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Reema AlGhofaili, Kelly J Cardona-Londoño, Khalid Omar Alahmadi, Hanan AlQudairy, Maha M AlRasheed and 3 more

Open access · goldAbstract readCase Reports
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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. 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

13 authors at 3 institutions in 1 country.

Hesham AldhalaanNeurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-7288-8588
Albandary AlBakheetTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Sarah AlRuwaysTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Nouf AlMutairiTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Maha AlNakiyahTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Reema AlGhofailiTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Kelly J Cardona-LondoñoDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.ORCID 0000-0001-7111-3609
Khalid Omar AlahmadiDepartment of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hanan AlQudairyTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Maha M AlRasheedClinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-6668-2874
Dilek ColakDepartment of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-6485-8768
Stefan T AroldDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
Namik KayaTranslational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-8912-7507
King Faisal Specialist Hospital & Research Centre · SAKing Abdullah University of Science and Technology · SAKing Saud University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in

Indexed as

ConsanguinityMutationPhenotypeCataractChildEpilepsyExome SequencingFemaleHumansInfantInfant, NewbornMaleMicrocephalyMinor Histocompatibility AntigensNeurodevelopmental DisordersPedigreeGEMIN4 protein, humanMinor Histocompatibility AntigensRibonucleoproteins, Small NuclearGEMIN4global developmental delayhomoallelicin silico predictionnovel pathogenic variantpediatric cataractstructural modeling

Identifiers

PMID35052432
PMCPMC8774908
OpenAlexW4206423604

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.