ArticleGenes2026
Genotypic and Phenotypic Insights on 11 Novel Variants in the
Saoud Al-Khuzaei, Jing Yu, Suzanne Broadgate, Morag Shanks, Penny Clouston, Robert E MacLaren, Peter Charbel Issa, Stephanie Halford, Samantha R De Silva, Susan M Downes
Abstract read
In one paragraphArticle 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
10 authors.
Saoud Al-KhuzaeiOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Jing YuNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.
Suzanne BroadgateNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, 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 MacLarenOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Peter Charbel IssaOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Stephanie HalfordNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.ORCID 0000-0003-2179-907X Samantha R De SilvaOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.ORCID 0000-0002-4455-2814 Susan M DownesOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.ORCID 0000-0001-7373-2665 Funding
Qatar national research fund GSRA6-1-0329-19010UK inherited Retinal Disease Consortium Project HMR03950Winstanley Family Donation for Inherited Macular Diseases HMD00280
6 · The paper itselfAbstract
PubMed holds no abstract for this paper.
Indexed as
ATP-Binding Cassette TransportersRetinal DiseasesAdultFemaleGenetic TestingGenotypeHigh-Throughput Nucleotide SequencingHumansMaleMutationPhenotypeRetrospective StudiesABCA4 protein, humanATP-Binding Cassette TransportersABCA4ABCA4 retinopathynovel variantspanel-based NGSStargardt disease
Identifiers
PMID42510768
PMCPMC13409708
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390