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

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

Journal of Molecular Medicine(2021)10.1007/s00109-021-02112-zSource: DataRank Database

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome is a research paper published in Journal of Molecular Medicine (2021). On theSindex it has a DataRank of 0. It has been cited 8 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access8 citations

Download PDF

Cite:

Linked data & code

geo omim

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 (7 grants)OA: hybridTopics (91)IDs (PubMed, PMC)Annotations (2)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 (25)

Lee-kai Wang ORCID,Ascia Eskin ORCID,Xuedong Kang,Viviana M. Fajardo ORCID,Zubin Mehta

Live enrichment

PubMed:34387706 PMC:PMC8541947

American Heart Association

Grant: 18CDA34110414

U.S. Department of Defense

Grant: W81XWH-18-1-0164

NIH/NHLBI

Grant: 1R01 HL153853-01

Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of Perinatal Heart

NHLBI NIH HHS

Grant: R01 HL153853

NCATS NIH HHS

Grant: UL1 TR000124

NCATS NIH HHS

Grant: UL1 TR001881

National Institutes of Health

Grant: 5UL1TR000124-04

UCLA Clinical and Translational Science Institute

hybridLicense: cc-by

publisherhttps://link.springer.com/content/pdf/10.1007/s00109-021-02112-z.pdf

publisherhttps://link.springer.com/article/10.1007/s00109-021-02112-z/fulltext.html

repositoryhttp://europepmc.org/pmc/articles/PMC8541947

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/8541947

Europe_PMChttps://europepmc.org/articles/PMC8541947

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

MyocardiumFibroblastsHumansCardiomyopathiesEndocardial FibroelastosisCell Cycle ProteinsPhenotypeMutationInfantFemaleAlstrom SyndromeEpithelial-Mesenchymal TransitionTranscriptomeCiliopathiesRNA-Seq

Keywords

fibrosisRna SequencingRetinal DystrophyEpithelial Mesenchymal TransitionExome SequencingAlstrom SyndromePrimary Endocardial FibroelastosisNeonatal CardiomyopathyRare Undiagnosed DiseaseRNA-Seq (mesh)Fibroblasts (mesh)Cell Cycle ProteinsMyocardium (mesh)Cardiovascular0304 Medicinal and Biomolecular Chemistry (for)Cell Cycle Proteins (mesh)Endocardial Fibroelastosis (mesh)2.1 Biological and endogenous factorsRNA-SeqCancerPediatricCancer (rcdc)Humans (mesh)3 Good Health and Well Being (sdg)Mutation (mesh)600Endocardial FibroelastosisPhenotype (mesh)Heart DiseasePhenotype3404 Medicinal and biomolecular chemistry (for-2020)Cardiovascular (rcdc)Original ArticleFemaleCardiomyopathiesEpithelial-Mesenchymal Transition (mesh)BiotechnologyImmunology (science-metrix)Epithelial-Mesenchymal TransitionImmunology34 Chemical Sciences (for-2020)Heart Disease (rcdc)Cardiomyopathies (mesh)610Biotechnology (rcdc)Rare Diseases (rcdc)Alstrom Syndrome (mesh)Medicinal and Biomolecular ChemistryRare DiseasesCancer GenomicsGeneticsHumansPediatric (rcdc)Cardiovascular (hrcs-hc)Genetics (rcdc)Congenital Structural Anomalies (rcdc)MyocardiumHuman GenomeCiliopathies (mesh)InfantInfant (mesh)2.1 Biological and endogenous factors (hrcs-rac)FibroblastsTranscriptome (mesh)Human Genome (rcdc)CiliopathiesGood Health and Well BeingFemale (mesh)Chemical SciencesMutationCongenital Structural AnomaliesTranscriptomeCancer Genomics (rcdc)

Sustainable Development Goals

SDG 3: 3. Good health

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

FAIR Checklist

Authors (25)

Funding (7 grants)

Open Access

Topics

Annotations (Europe PMC)