Evidence map›Paper›PMID 36429068›Full record

ArticleCells2022

The Predicted Splicing Variant c.11+5G>A in

Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C W Alaerds, Merel A Post, Edwin M van Oosten, Luke O'Gorman, Michael Kwint, Louet Koolen, Anita D M Hoogendoorn and 6 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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 28% 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, 10 citations in OpenAlex.

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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

16 authors at 2 institutions in 2 countries.

Irene Vázquez-DomínguezDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-9753-521X
Lonneke DuijkersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Zeinab FadaieDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Eef C W AlaerdsDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Merel A PostDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GD Nijmegen, The Netherlands.
Edwin M van OostenDepartment of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Luke O'GormanDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Michael KwintDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Louet KoolenDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-1658-0671
Anita D M HoogendoornDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Hester Y KroesDivision Laboratories, Pharmacy and Biomedical Genetics, Clinical Genetics, University Medical Center of Utrecht, 3584 CX Utrecht, The Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-1693-9699
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Rob W J CollinDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-4347-6503
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-9038-0067
Alejandro GarantoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5721-1560
Radboud University Nijmegen · NLUniversity Medical Center Utrecht · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in

Indexed as

Induced Pluripotent Stem CellsRNA SplicingExonsHumansRetinal Pigment EpitheliumRNA, MessengerRNA, Messengercell-specific defectsinduced pluripotent stem cells (iPSCs)inherited retinal diseasesiPSC-derived modelsLeber congenital amaurosisretinal pigment epithelium (RPE)RPE65 gene

Identifiers

PMID36429068
PMCPMC9688607
OpenAlexW4309605394

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.