Evidence map›Paper›PMID 36231115›Full record

ArticleCells2022

A Novel Homozygous Founder Variant of

Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C González-Álvarez, Stefan T Arold, Mohammad Anas Dababo, Omar A Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar and 9 more

Open access · goldAbstract read
In one paragraph

Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

19 authors at 7 institutions in 3 countries.

Mazhor AldosaryTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Maysoon AlsagobTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Hanan AlQudairyTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Ana C González-ÁlvarezBioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
Stefan T AroldBioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.ORCID 0000-0001-5278-0668
Mohammad Anas DababoDepartment of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Omar A AlharbiRadiology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Rawan AlmassDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
AlBandary AlBakheetTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Dalia AlSararTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Alya QariDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Mysoon M Al-AnsariDepartment of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.ORCID 0000-0002-2501-691X
Monika OláhováWelcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Saif A Al-ShahraniDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Moeenaldeen AlSayedDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Dilek ColakDepartment of Molecular Oncology, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-6485-8768
Robert W TaylorWelcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.ORCID 0000-0002-7768-8873
Mohammed AlOwainDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Namik KayaTranslational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-8912-7507
King Faisal Specialist Hospital & Research Centre · SAAlfaisal University · SACentre National de la Recherche Scientifique · FRKing Abdulaziz City for Science and Technology · SAKing Abdullah University of Science and Technology · SANewcastle upon Tyne Hospitals NHS Foundation Trust · GBWellcome Centre for Mitochondrial Research · GB

Funding

Department of HealthMedical Research Council G0800674Medical Research Council MR/S005021/1Medical Research Council MR/W019027/1Wellcome Trust 203105/Z/16/Z
6 · The paper itself

Abstract

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in

Indexed as

Brain DiseasesOptic AtrophyAntioxidantsCarrier ProteinsHumansMitochondrial ProteinsMutationNADPOxidoreductasesSaudi ArabiaAntioxidantsCarrier ProteinsMitochondrial ProteinsNADPOxidoreductasesRTN4IP1 protein, humanage of variantencephalopathyfounder variantin silico pathogenicity predictionmissenseoptic atrophyRTN4IP1structural modeling

Identifiers

PMID36231115
PMCPMC9563936
OpenAlexW4303628909

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.