Evidence map›Paper›PMID 33670832›Full record

ArticleGenes2021

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic

Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. The Structural Abnormalities Are Deeply Involved in the Cause ofInternational journal of molecular sciences · 2023
    Article
  2. Article
  3. 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

13 authors at 6 institutions in 1 country.

Isabelle PerraultLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0002-8560-1379
Sylvain HaneinTranslational Genetics, Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0001-5817-6330
Xavier GérardLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Nelson MounguengueLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Ryme BouyakoubLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Mohammed ZarhrateGenomics Platform, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Cécile FourrageBioinformatic Platform, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Fabienne Jabot-HaninBioinformatic Platform, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Béatrice BocquetCentre de Référence des Affections Sensorielles Génétiques, Institut des Neurosciences de Montpellier, CHU-Saint Eloi Montpellier, 34091 Montpellier, France.ORCID 0000-0002-6369-4818
Isabelle MeunierCentre de Référence des Affections Sensorielles Génétiques, Institut des Neurosciences de Montpellier, CHU-Saint Eloi Montpellier, 34091 Montpellier, France.
Xavier ZanlonghiEye Clinic Jules Verne, 44300 Nantes, France.
Josseline KaplanLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Jean-Michel RozetLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.ORCID 0000-0001-7951-7886
Inserm · FRUniversité Paris Cité · FRCentre Hospitalier Universitaire de Rennes · FRDélégation Paris 5 · FRInstitute for Neurosciences of Montpellier · FRUniversité de Montpellier · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it can provide ocular and extraocular prognostics and identify patients eligible to develop gene-specific therapies. Routine high-throughput molecular testing in LCA yields 70%-80% of genetic diagnosis. In this study, we aimed to investigate the non-coding regions of one non-syndromic LCA gene,

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseAdolescentAdultAllelesChildChild, PreschoolCytoskeletal ProteinsDNA Mutational AnalysisExonsFemaleHigh-Throughput Nucleotide SequencingHumansInfantIntronsLeber Congenital AmaurosisCytoskeletal ProteinsRPGRIP1 protein, humandeep intronic variantLeber congenital amaurosisoligotherapyRPGRIP1

Identifiers

PMID33670832
PMCPMC7922592
OpenAlexW3132979635

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.