Evidence map›Paper›PMID 42793046›Full record

ArticleGenes2026

Vanita Berry, Manav B Ponnekanti, Nancy Aychoua, Maddy Ashwin Reddy, Michel Michaelides

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Vanita BerryUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.ORCID 0000-0001-6008-8970
Manav B PonnekantiUCL Medical School, University College London, 74 Huntley St, London WC1E 6DE, UK.ORCID 0009-0001-9545-7489
Nancy AychouaUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.ORCID 0000-0002-9514-559X
Maddy Ashwin ReddyMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0001-6624-1518
Michel MichaelidesUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.

Funding

Moorfields Eye Hospital NHS Foundation Trust BRC-D-CON 546795
6 · The paper itself

Abstract

backgroundOcular coloboma is a congenital eye defect with high genetic heterogeneity. This study investigated a four-generation pedigree to identify candidate variants underlying autosomal dominant iris and chorioretinal coloboma.

methodsWhole-exome sequencing (WES) was performed on a single affected family member. Variants were prioritised using the Phenopolis pipeline, filtered for rarity across multiple population databases, and retained where CADD indicated predicted deleteriousness. Candidate variants were then validated by Sanger sequencing in the four family members from whom DNA was available. Variants were classified according to ACMG/AMP criteria.

resultsFive rare heterozygous variants were identified:

conclusions

Indexed as

ColobomaIrisMembrane ProteinsAdultExome SequencingFemaleGenes, DominantHumansMaleMutationPedigreeMembrane Proteinsautosomal dominantocular colobomawhole exome sequencing

Identifiers

PMID42793046
PMCPMC13606068

What OpenQuestion holds

Textmetadata
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.