Retinal Dystrophy Associated with Homozygous Variants in

Jordi Maggi, James V M Hanson, Lisa Kurmann, Samuel Koller, Silke Feil, Christina Gerth-Kahlert, Wolfgang Berger

Abstract read

In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing 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

2 citing papers in PubMed.

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025
Review
Utargetome: A targetome prediction tool for modified U1-snRNAs to identify distal-target positions with improved selectivity.PLoS computational biology · 2025
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

7 authors.

Jordi MaggiInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0000-0002-9906-8739

James V M HansonDepartment of Ophthalmology, University Hospital Zurich and University of Zurich, 8091 Zurich, Switzerland.

Lisa KurmannInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

Samuel KollerInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0000-0003-0965-0539

Silke FeilInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

Christina Gerth-KahlertDepartment of Ophthalmology, University Hospital Zurich and University of Zurich, 8091 Zurich, Switzerland.ORCID 0000-0001-6298-615X

Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0000-0002-0370-3815

Funding

Velux Stiftung 1371

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Eye ProteinsHomozygotePedigreeRetinal DystrophiesBasic-Leucine Zipper Transcription FactorsExome SequencingHumansMutationWhole Genome SequencingBasic-Leucine Zipper Transcription FactorsEye ProteinsNRL protein, humanNRLretinal dystrophyretinitis pigmentosasplicinguniparental disomy

Identifiers

PMID39766861

DOI10.3390/genes15121594

PMCPMC11675615

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.