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

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101267Source: DataRank Database

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome is a research paper published in Genetics in Medicine (2024). On theSindex it has a DataRank of 0. It has been cited 1 time.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access1 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 (5 grants)Impact (FWCI 0.16)OA: bronzeTopics (42)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 (15)

A.‐S. Jourdain,Frédéric Frénois ORCID,Emilie Ait‐Yahya ORCID,Mike Bamshad,Anne Dieux

Live enrichment

PubMed:39268717 OpenAlex:https://openalex.org/W4402390681

National Human Genome Research Institute

Grant: U01 HG011744

National Human Genome Research Institute

Grant: UM1 HG006493

National Human Genome Research Institute

Grant: U24 HG011746

Centre hospitalier régional universitaire de Lille

Grant: DEC19-366

Institut National de la Santé et de la Recherche Médicale

Grant: U614

FWCI

0.16

Citation Percentile

0.5%

Citation Trend

2025

bronzeLicense: http://www.elsevier.com/open-access/userlicense/1.0/

journalhttps://www.gimjournal.org/article/S1098-3600(24)00201-6/pdf

publisherhttps://www.gimjournal.org/article/S1098-3600(24)00201-6/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360024002016?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360024002016?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2024.101267

Fields of Study

Congenital heart defects researchGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesT-Box Domain ProteinsHumansMutation, MissenseHeart Defects, CongenitalUpper Extremity Deformities, CongenitalAbnormalities, MultipleComputer SimulationHeart Septal Defects, AtrialLower Extremity Deformities, CongenitalRNA SplicingHaploinsufficiencyHolt-Oram syndrome

MeSH Terms

Abnormalities, MultipleComputer SimulationHeart Defects, CongenitalHeart Septal Defects, AtrialHumansRNA SplicingMutation, MissenseT-Box Domain ProteinsLower Extremity Deformities, CongenitalUpper Extremity Deformities, CongenitalHaploinsufficiency

Keywords

Missense mutationIn silicospliceComputational biologyGeneticsBiologyRNA splicingMedicineBioinformaticsMutationGeneHolt-Oram syndromeMinigeneTBX5Variant classificationVariant of uncertain significance