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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5Source: DataRank Database

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients is a research paper published in BioData Mining (2025). On theSindex it has a DataRank of 0.104. It has been cited 1 time.

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0.104DataRank · unranked

Scored on demand from live citation data

Open Access1 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 0.86)OA: goldTopics (19)Linked Datasets (4)DataCite Reuse (4)IDs (PubMed, PMC, OpenAlex)Annotations (1)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

Reusable (0/3)

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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.104

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (100)

Undiagnosed Diseases Network,Maria T. Acosta ORCID,David R. Adams,Ben Afzali,Ali Al-Beshri

Live enrichment

PubMed:39825393 PMC:PMC11740427 OpenAlex:https://openalex.org/W4406485486

National Institutes of Health (NIH) Common Fund

Grant: U01HG007530

NIH National Institute of Neurological Disorders and Stroke

Grant: U2CNS132415

NINDS NIH HHS

Grant: U01 NS134356

NINDS NIH HHS

Grant: R00 NS114850

FWCI

0.86

Citation Percentile

0.7%

Citation Trend

2026

goldLicense: cc-by

journalhttps://biodatamining.biomedcentral.com/counter/pdf/10.1186/s13040-024-00418-5

publisherhttps://biodatamining.biomedcentral.com/counter/pdf/10.1186/s13040-024-00418-5

publisherhttps://link.springer.com/content/pdf/10.1186/s13040-024-00418-5.pdf

publisherhttps://link.springer.com/article/10.1186/s13040-024-00418-5/fulltext.html

journalhttps://doi.org/10.1186/s13040-024-00418-5

Fields of Study

Genomics and Rare DiseasesHereditary Neurological DisordersNeurological diseases and metabolism

Keywords

PhenotypeDiseaseClinical phenotypeRare diseaseComputational biologyGeneticsMedicineBiologyComputer scienceGenePathologySeizuresRare DiseasesCompound HeterozygousVariant CarriersRecessive Conditions

Additional file 1 of Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

10.6084/m9.figshare.28233456.v1figshare

Additional file 1 of Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

10.6084/m9.figshare.28233456figshare

Additional file 2 of Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

10.6084/m9.figshare.28233459.v1figshare

Additional file 2 of Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

10.6084/m9.figshare.28233459figshare