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Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574Source: DataRank Database

Genome sequencing reveals the impact of pseudoexons in rare genetic disease is a research paper published in Genetics in Medicine (2025). On theSindex it has a DataRank of 0.269. It has been cited 5 times.

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0.269DataRank · unranked

Scored on demand from live citation data

Open Access5 citations

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omim

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)Impact (FWCI 5.18)OA: hybridTopics (35)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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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.269

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (25)

Megan Hawley ORCID,Light Auriga,Ivan De Dios,Arthur Ko ORCID,Sofia Marmolejos

Live enrichment

PubMed:40927908 PMC:PMC12501780 OpenAlex:https://openalex.org/W4414084108

National Human Genome Research Institute

Grant: U01HG011745

National Eye Institute

Grant: R01EY035717

National Eye Institute

Grant: P30EY014104

NHGRI NIH HHS

Grant: U24 HG011746

Research to Prevent Blindness

National Institutes of Health

FWCI

5.18

Citation Percentile

1.0%

Citation Trend

2026

hybridLicense: cc-by

journalhttps://doi.org/10.1016/j.gim.2025.101574

HYBRIDhttps://doi.org/10.1016/j.gim.2025.101574

publisherhttps://doi.org/10.1016/j.gim.2025.101574

publisherhttps://api.elsevier.com/content/article/PII:S1098360025002217?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360025002217?httpAccept=text/plain

Fields of Study

Genomics and Rare DiseasesCardiomyopathy and Myosin StudiesConnective tissue disorders researchMedicineBiology

MeSH Terms

Whole Genome SequencingExome SequencingAortic DiseasesCardiomyopathy, DilatedExonsFemaleGenetic TestingHumansIntronsMaleGenome, HumanSequence Analysis, DNAGenetic Predisposition to DiseaseGenetic Diseases, InbornRare DiseasesHigh-Throughput Nucleotide Sequencing

Keywords

DNA sequencingMendelian inheritanceWhole genome sequencingGenomeDiseaseCancer genome sequencingExome sequencingPersonal genomicsMechanism (biology)Genome sequencingRna SequencingRare DiseasePseudoexonIntronic Variants

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

FAIR Checklist

DataRank Breakdown

Authors (25)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)