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

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64119Source: DataRank Database

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay is a research paper published in American Journal of Medical Genetics Part A (2025). On theSindex it has a DataRank of 0. It has been cited 3 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access3 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 1.23)OA: hybridTopics (40)IDs (PubMed, OpenAlex)SDGs (1)

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 (17)

Caoimhe McKenna ORCID,Karen Stals ORCID,Antonio Vitobello ORCID,Mathilde Renaud ORCID,Claudine Rieubland

Live enrichment

PubMed:40418122 OpenAlex:https://openalex.org/W4410745157

National Institutes of Health

Grant: K08DK128606

FWCI

1.23

Citation Percentile

0.8%

Citation Trend

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64119

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64119

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64119

journalhttps://doi.org/10.1002/ajmg.a.64119

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40418122

Fields of Study

Protein Tyrosine PhosphatasesRNA regulation and diseaseGalectins and Cancer Biology

MeSH Terms

Abnormalities, MultipleAdolescentAdultChildDevelopmental DisabilitiesChild, PreschoolDNA-Binding ProteinsEctodermal DysplasiaFailure to ThriveFemaleHeart Defects, CongenitalHumansInfantMalePhenotypeTranscription FactorsUrogenital AbnormalitiesFaciesHaploinsufficiency

Keywords

HaploinsufficiencyPhenotypeGenitourinary systemFLNACostello syndromeNoonan syndromeDiseaseBiologyHeart diseaseGeneticsCancer researchMutationMedicineInternal medicineGeneRas/mapkRasopathyRreb1

Sustainable Development Goals

SDG 0: Good health and well-being