Evidence map›Paper›PMID 41009962›Full record

ArticleGenes2025

Genotype-Phenotype Correlations in

Saoud Al-Khuzaei, Mital Shah, Arun Reginald, Edna Baba, Morag Shanks, Penny Clouston, Robert E MacLaren, Stephanie Halford, Samantha R De Silva, Susan M Downes

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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. A Novel HeterozygousInternational journal of molecular sciences · 2026
    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.

Saoud Al-KhuzaeiNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0002-2779-3202
Mital ShahNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0001-7496-6121
Arun ReginaldThe Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
Edna BabaOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Morag ShanksOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Penny CloustonOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Robert E MacLarenNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
Stephanie HalfordNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
Samantha R De SilvaNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0002-4455-2814
Susan M DownesNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0001-7373-2665

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo investigate genotype-phenotype correlations in

methodsClinical data, including best corrected visual acuities (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) imaging, were analysed. Genetic testing was performed using next-generation sequencing (NGS).

resultsIn this cohort, 26 different

conclusionsThe significant phenotypic range described in this study is consistent with the previously reported phenotypic variability in

Indexed as

PeripherinsAdolescentAdultAgedFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationPhenotypeTomography, Optical CoherenceUnited KingdomYoung AdultPeripherinsPRPH2 protein, humanfundus autofluorescencecgeneticsinheritedOCTpattern dystrophyPRPH2

Identifiers

PMID41009962
PMCPMC12470102

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.