Evidence map›Paper›PMID 39120292›Full record

ArticleCells2024

Investigating Splice Defects in

Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Review
  6. Long-read RNA sequencing: A transformative technology for exploring transcriptome complexity in human diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
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

12 authors.

Shwetha ChandrasekharUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Siying LinUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.ORCID 0000-0003-1122-8396
Neringa JurkuteUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Kathryn OprychUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Leire Estramiana ElorrietaUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.ORCID 0000-0001-5066-4284
Elena SchiffUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.ORCID 0000-0002-9848-1302
Samantha MalkaUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.ORCID 0000-0003-0020-4049
Genevieve WrightUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Omar A MahrooUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.ORCID 0000-0003-1254-0832
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Gavin ArnoUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.

Funding

Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, MACKAY, TRUDY F. · 2021 to 2025
$10.8M
Fight for Sight UK 5045/46Moorfields Eye Charity Stephen and Elizabeth Archer in memory of Marion WoodsNational Institute of Health Research Biomedical Research Centre (NIHR-BRC) at Moorfields Eye Hospital and UCL Institute of Ophthalmology N/ANIGMS NIH HHS P20 GM139769NIGMS NIH HHS P20GM139769Wellcome TrustWellcome Trust 206619/Z/17/Z
6 · The paper itself

Abstract

Biallelic variants in

Indexed as

Extracellular Matrix ProteinsRNA SplicingUsher SyndromesAdultExonsFemaleHigh-Throughput Nucleotide SequencingHumansIntronsMaleMiddle AgedMutationRetinitis PigmentosaRNA, MessengerExtracellular Matrix ProteinsRNA, MessengerUSH2A protein, humancryptic splice-altering variantdeep intronic variantinherited retinal diseaselong-read sequencingnasal epithelial cellsOxford nanopore sequencingUSH2A

Identifiers

PMID39120292
PMCPMC11311777

What OpenQuestion holds

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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.