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

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics(2025)10.1111/cge.70101Source: DataRank Database

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome is a research paper published in Clinical Genetics (2025). On theSindex it has a DataRank of 0.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access0 citations

Download PDF

Cite:

Linked data & code

omim refseq

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 (3 grants)OA: hybridTopics (16)IDs (PubMed, PMC)Annotations (2)

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 (10)

Neta Feinstein‐Goren,Lior Greenbaum ORCID,Ortal Barel ORCID,Daniel C. Koboldt ORCID,Samantha A. Brugmann ORCID

Live enrichment

PubMed:41203296 PMC:PMC12958005

National Institute of Dental and Craniofacial Research

Grant: R01DE027091

National Institute of Dental and Craniofacial Research

Grant: R35DE027557

Ministry of Health, State of Israel

hybridLicense: cc-by-nc-nd

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70101

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.70101

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.70101

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12958005/

Europe_PMChttps://europepmc.org/articles/PMC12958005

MeSH Terms

HumansPolydactylyHeterozygotePhenotypeMutationChild, PreschoolInfantFemaleMegalencephaly

Keywords

Developmental DelayDysmorphic FeaturesRare DiseasesMaxExome Sequencing ReanalysisMayer–rokitanski–kuster–hauser SyndromePolydactyly‐macrocephaly Syndrome

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

FAIR Checklist

Authors (10)

Funding (3 grants)

Open Access

Topics

Annotations (Europe PMC)