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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5Source: DataRank Database

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy is a research paper published in Nature Genetics (2025). On theSindex it has a DataRank of 0.571. It has been cited 44 times.

N/A

0.571DataRank · unranked

Scored on demand from live citation data

Open Access44 citations

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doi

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 42.09)OA: hybridTopics (38)IDs (PubMed, PMC, OpenAlex)Annotations (1)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)

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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.571

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

This paper's DataRank is currently driven only by its base citation score. Citation network data was not refreshed for this result.

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Authors (52)

Koenraad De Wispelaere ORCID,Jonathan Lees ORCID,Marta Codina‐Solà ORCID,Brynjar Ö. Jensson ORCID,Emma Hales

Live enrichment

PubMed:40210679 PMC:PMC12165851 OpenAlex:https://openalex.org/W4409340242

U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

Grant: R01HL161365

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: R03HD111492

ZonMw

Grant: 09150172110002

Wellcome Trust

FWCI

42.09

Citation Percentile

1.0%

Citation Trend

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://www.nature.com/articles/s41588-025-02159-5.pdf

publisherhttps://www.nature.com/articles/s41588-025-02159-5.pdf

publisherhttps://www.nature.com/articles/s41588-025-02159-5

journalhttps://doi.org/10.1038/s41588-025-02159-5

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40210679

Fields of Study

Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesRNA and protein synthesis mechanismsHumansRNA, Small NuclearNeurodevelopmental DisordersEpilepsyMaleFemaleChildMutationChild, PreschoolIntellectual DisabilityMicrocephalyPseudogenesGerm-Line MutationAdolescent

MeSH Terms

AdolescentChildChild, PreschoolEpilepsyFemaleHumansMaleIntellectual DisabilityMicrocephalyMutationPseudogenesRNA, Small NuclearGerm-Line MutationNeurodevelopmental Disorders

Keywords

BiologyEpilepsyGeneticsGeneMutationBioinformaticsNeuroscience

Sustainable Development Goals

SDG 0: Good health and well-being

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

FAIR Checklist

DataRank Breakdown

Authors (52)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)