Evidence map›Paper›PMID 33968938›Full record

ArticleFrontiers in cell and developmental biology2021

Long-Read Sequencing to Unravel Complex Structural Variants of

Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens and 12 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.5field-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

15 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
  2. Review
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  4. Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025
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  7. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Article
  8. Article
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  10. Review
  11. Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023
    Review
  12. Article
  13. Article
  14. Loss-of-function mutations inScience advances · 2022
    Article
  15. 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

22 authors at 8 institutions in 3 countries.

Giulia AscariCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Nanna D RendtorffThe Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Marieke De BruyneCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Julie De ZaeytijdDepartment of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Michel Van LintDepartment of Ophthalmology, Antwerp University Hospital, Antwerp, Belgium.
Miriam BauwensCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Mattias Van HeetveldeCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Gavin ArnoGreat Ormond Street Hospital, London, United Kingdom.
Julie JacobDepartment of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
David CreytensDepartment of Pathology, Ghent University Hospital, Ghent, Belgium.
Jo Van DorpeDepartment of Pathology, Ghent University Hospital, Ghent, Belgium.
Thalia Van LaethemCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Toon RosseelCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Tim De PooterNeuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Peter De RijkNeuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Wouter De CosterApplied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Björn MentenCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Alfredo Dueñas ReyCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Mojca StrazisarNeuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Mette BertelsenThe Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Lisbeth TranebjaergThe Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Elfride De BaereCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Ghent University Hospital · BEKennedy Center · DKUniversity of Antwerp · BEGhent University · BEAntwerp University Hospital · BEGreat Ormond Street Hospital · GBKU Leuven · BEVIB-UAntwerp Center for Molecular Neurology · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inactivating variants as well as a missense variant in the centrosomal

Indexed as

CEP78cone-rod dystrophy with hearing lossinherited retinal diseaselong-read sequencingsingle-cell gene expression analysisstructural variants

Identifiers

PMID33968938
PMCPMC8097100
OpenAlexW3155432348

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.