Evidence map›Paper›PMID 40243434›Full record

ArticleInternational journal of molecular sciences2025

Expanding the Clinical Spectrum of

Ana Catalina Rodriguez-Martinez, Oliver R Marmoy, Katrina L Prise, Robert H Henderson, Dorothy A Thompson, Mariya Moosajee

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. 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
–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

3 citing papers in PubMed.

  1. Novel Genotype-Phenotype Correlations inOphthalmology science · 2026
    Article
  2. The Specific Pathogenicity Pattern of the DifferentInternational journal of molecular sciences · 2025
    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

6 authors.

Ana Catalina Rodriguez-MartinezClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.ORCID 0000-0003-0412-9744
Oliver R MarmoyClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.ORCID 0000-0003-2022-3669
Katrina L PriseClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.
Robert H HendersonClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.ORCID 0000-0002-5250-6404
Dorothy A ThompsonClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.ORCID 0000-0001-5491-3911
Mariya MoosajeeClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 1LE, UK.ORCID 0000-0003-1688-5360

Funding

Wellcome TrustWellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Biallelic pathogenic variants in the

Indexed as

Eye ProteinsIntraocular PressureMacular DegenerationMembrane ProteinsNerve Tissue ProteinsOcular HypertensionAdultChildFemaleGenetic Association StudiesGenotypeHumansMutationPhenotypeCRB1 protein, humanEye ProteinsMembrane ProteinsNerve Tissue ProteinsCRB1crumbs homologue 1cystoid macular oedemaERGmacular dystrophyON-pathway

Identifiers

PMID40243434
PMCPMC11988890

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.