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Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Nature Medicine(2024)10.1038/s41591-024-03085-5Source: DataRank Database

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders is a research paper published in Nature Medicine (2024). On theSindex it has a DataRank of 0. It has been cited 91 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access91 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 14.86)OA: hybridTopics (44)IDs (PubMed, PMC, OpenAlex)Annotations (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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Authors (8)

Chantal Thys,Ian Berry ORCID,Joanna Jarvis,Els Ortibus ORCID,Andrew Mumford ORCID

Live enrichment

PubMed:38821540 PMC:PMC11333284 OpenAlex:https://openalex.org/W4399209063

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

Grant: R01HL161365

NICHD NIH HHS

Grant: R03 HD111492

Wellcome Trust

FWCI

14.86

Citation Percentile

1.0%

Influential Citations

Citation Trend

2024

2025

2026

hybridLicense: cc-by

journalhttps://www.nature.com/articles/s41591-024-03085-5.pdf

HYBRIDhttps://www.nature.com/articles/s41591-024-03085-5.pdf

publisherhttps://www.nature.com/articles/s41591-024-03085-5.pdf

publisherhttps://www.nature.com/articles/s41591-024-03085-5

journalhttps://doi.org/10.1038/s41591-024-03085-5

Fields of Study

RNA Research and SplicingRNA modifications and cancerGenetics and Neurodevelopmental DisordersMedicineBiologyHumansRNA, Small NuclearNeurodevelopmental DisordersIntellectual DisabilityMutationFemaleMaleSpliceosomesMicrocephalyGenetic Association StudiesChild

MeSH Terms

ChildFemaleHumansMaleIntellectual DisabilityMicrocephalyMutationRNA, Small NuclearSpliceosomesGenetic Association StudiesNeurodevelopmental Disorders

Keywords

HypotoniaMicrocephalyGeneticsEtiologySpliceosomeBiologyAbnormalityIntellectual disabilityGeneSmall nuclear RNABioinformaticsMedicineRNA splicingPathologyRNANon-coding RNAPsychiatry

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

FAIR Checklist

Authors (8)

Funding (4 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)