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

Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63567Source: DataRank Database

Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access0 citations

Free full text

Cite:

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)Impact (FWCI 0.00)OA: hybridTopics (61)IDs (PubMed, OpenAlex)

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 (3)

Virgina Lee,Anne Slavotinek ORCID,Balram Gangaram ORCID

Live enrichment

PubMed:38389298 OpenAlex:https://openalex.org/W4392109449

National Institutes of Health

Grant: U01HG009599

FWCI

0.00

Citation Percentile

0.0%

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63567

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63567

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63567

journalhttps://doi.org/10.1002/ajmg.a.63567

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38389298

Fields of Study

Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesChildChild, PreschoolHumansMaleAbnormalities, MultipleAllelesEndopeptidasesFaceGenetic Association StudiesGenetic Predisposition to DiseaseHematologic DiseasesIntellectual DisabilityMutationNeckPhenotypeSiblingsVestibular DiseasesKabuki syndrome

MeSH Terms

Abnormalities, MultipleAllelesChildChild, PreschoolFaceFemaleHematologic DiseasesHumansMaleIntellectual DisabilityMutationNeckEndopeptidasesPhenotypeVestibular DiseasesGenetic Predisposition to DiseaseSiblingsGenetic Association Studies

Keywords

Kabuki syndromeProbandMedicinePalpebral fissureDiseaseIntellectual disabilityDevelopmental disorderDermatologyPediatricsGeneticsPathologyAutismBiologyAnatomyGenePsychiatryMutationSeizuresMicrocephalyDevelopmental DelayOtud6bIddfsda