Evidence map›Paper›PMID 41412793›Full record

ArticleJournal of medical genetics2026

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous

Dong Sun, Robert H Henderson, Emma Clement, Michel Michaelides, Angelos Kalitzeos, Genevieve A Wright, Eibhlin Mcloone, Chris Inglehearn, James A Poulter, Carmel Toomes

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Dong SunLeeds Institute of Medical Research, University of Leeds, Leeds, UK.ORCID http://orcid.org/0009-0008-1787-8019
Robert H HendersonOphthalmology, Great Ormond Street Hospital for Children, London, UK.
Emma ClementOphthalmology, Great Ormond Street Hospital for Children, London, UK.ORCID http://orcid.org/0000-0002-5562-6276
Michel MichaelidesMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Angelos KalitzeosUCL Institute of Ophthalmology, University College London, London, UK.
Genevieve A WrightMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Eibhlin MclooneDepartment of Ophthalmology, Royal Victoria Hospital, Belfast, UK.
Chris InglehearnLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
James A PoulterLeeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0003-2048-5693
Carmel ToomesLeeds Institute of Medical Research, University of Leeds, Leeds, UK c.toomes@leeds.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still a substantial number of genetically unsolved cases. The aim of this study was to analyse whole genome sequencing (WGS) data from the FEVR cases in the Genomics England (GEL) 100 000 genomes project to identify the causative variants.

methodsWGS was performed by GEL and accessed within the GEL Research Environment. FEVR cases were identified using LabKey and candidate variants were extracted using the 'gene-variant workflow' and 'CNV/SV workflow' and by using BCFtools in unfiltered VCF files.

resultsFifty-nine FEVR probands were submitted to GEL. We found six novel and eight previously reported pathogenic variants in six genes known to underlie FEVR (

conclusionBy performing bespoke reanalysis of the FEVR GEL cohort, this study has highlighted additional heterozygous variants in

Indexed as

beta CateninFamilial Exudative VitreoretinopathiesMutationEye ProteinsFemaleFrizzled ReceptorsGenetic Predisposition to DiseaseHeterozygoteHumansKinesinsLow Density Lipoprotein Receptor-Related Protein-5MaleNerve Tissue ProteinsTetraspaninsUnited KingdomWhole Genome Sequencingbeta CateninEye ProteinsFrizzled ReceptorsFZD4 protein, humanKIF11 protein, humanKinesinsLow Density Lipoprotein Receptor-Related Protein-5LRP5 protein, humanNDP protein, humanNerve Tissue ProteinsTetraspaninsTSPAN12 protein, humanEye DiseasesGenetic Variation

Identifiers

PMID41412793
PMCPMC13018757

What Socratic 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 Socratic graph.