Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Investigative Ophthalmology & Visual Science(2025)10.1167/iovs.66.12.53Source: DataRank Database

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals is a research paper published in Investigative Ophthalmology & Visual Science (2025). On theSindex it has a DataRank of 0. It has been cited 2 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access2 citations

Download PDF

Cite:

Linked data & code

refsnp omim nct pdb

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (1 grants)OA: goldTopics (65)IDs (PubMed, PMC)Annotations (4)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

Authors (37)

Filip Van den Broeck ORCID,Quinten Mahieu ORCID,Eline Geens,Mattias Van Heetvelde ORCID,Marieke De Bruyne ORCID

Live enrichment

PubMed:40985799 PMC:PMC12468096

European Commission

Grant: 813490

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder

goldLicense: CC BY NC ND

publisherhttps://iovs.arvojournals.org/article.aspx?articleid=2810865

Europe_PMChttps://europepmc.org/articles/PMC12468096

Europe_PMChttps://europepmc.org/articles/PMC12468096?pdf=render

https://doi.org/10.1167/iovs.66.12.53

https://doi.org/10.21203/rs.3.rs-5849564/v2

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansMacular Degenerationcis-trans-IsomerasesElectroretinographyPedigreeDNA Mutational AnalysisAge of OnsetHaplotypesGenes, DominantPhenotypeMutationAdultAgedMiddle AgedBelgiumFemaleMaleRetinoid Isomerohydrolase

Keywords

MaleDNA Mutational AnalysisISOMERASED477GRPE65Ophthalmology & OptometryMacular DegenerationBelgiumVISUAL CYCLEMedicine and Health SciencesAge of OnsetfounderMUTATION11 Medical and Health SciencesGenes, DominantRetinoid Isomerohydrolaseeuropean ancestryDominant RPE65-p.(E519K) ConsortiumBiochemistry and Molecular BiologyMiddle AgedPedigree[SDV] Life Sciences [q-bio]Autosomal dominantPhenotypeFemaleLife Sciences & Biomedicinecis-trans-IsomerasesAdultArticleMECHANISMSRETINITIS-PIGMENTOSA3212 Ophthalmology and optometryElectroretinographyHumansVORETIGENE NEPARVOVECAgedScience & TechnologyRHODOPSIN06 Biological SciencesOphthalmologyHaplotypesISOMEROHYDROLASERETINAL DISEASEHuman medicineInherited Retinal Disease (IRD)

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

FAIR Checklist

Authors (37)

Funding (1 grants)

Open Access

Topics

Annotations (Europe PMC)