Evidence map›Paper›PMID 36362125›Full record

ArticleInternational journal of molecular sciences2022

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in

Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P M Cremers

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.7field-weighted citation impact, top 33% 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

10 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. A novel variant c.7104 + 6T > A ofFrontiers in pediatrics · 2024
    Article
  8. Article
  9. Article
  10. 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

10 authors at 2 institutions in 3 countries.

Janine ReurinkDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-5677-9258
Jaap OostrikDepartment of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-3980-4220
Marco AbenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-6069-3847
Mariana Guimarães RamosDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-8246-1817
Emma van BerkelDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Monika OłdakDepartment of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.ORCID 0000-0002-4216-9141
Erwin van WijkDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6525 AJ Nijmegen, The Netherlands.ORCID 0000-0002-5702-3460
Hannie KremerDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-0841-8693
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-9038-0067
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-4954-5592
Radboud University Nijmegen · NLInstitute of Physiology and Pathology of Hearing · PL

Funding

Algemene Nederlandse Vereniging ter Voorkoming van BlindheidLandelijke Stichting voor Blinden en SlechtziendenNational Science Center 2020/37/N/NZ5/02800OogfondsRotterdamse Stichting BlindenbelangenStichting BlindenhulpStichting Blinden-PenningStichting tot Verbetering van het Lot der BlindenVelux Stiftung 1129
6 · The paper itself

Abstract

Non-canonical splice site variants are increasingly recognized as a relevant cause of the

Indexed as

Usher SyndromesExtracellular Matrix ProteinsHEK293 CellsHumansMutationRNA PrecursorsRNA Splice SitesExtracellular Matrix ProteinsRNA PrecursorsRNA Splice SitesUSH2A protein, humanminigene splice assaynon-canonical splice sitepre-mRNA splicingretinitis pigmentosaUSH2AUsher syndrome

Identifiers

PMID36362125
PMCPMC9654511
OpenAlexW4308119974

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.