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First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

Neurogenetics(2025)10.1007/s10048-025-00835-6Source: DataRank Database

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene is a research paper published in Neurogenetics (2025). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (8 grants)Impact (FWCI 1.79)OA: hybridTopics (49)IDs (PubMed, PMC, OpenAlex)Annotations (1)

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Context only (not used in score)

Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (17)

Russell J. Stewart ORCID,Yutaka Furuta ORCID,Kimberly Ezell ORCID,Lynette Rives,Bethany Nunley

Live enrichment

PubMed:40788430 PMC:PMC12339610 OpenAlex:https://openalex.org/W4413100438

NIGMS NIH HHS

Grant: R01 GM140287

NIA NIH HHS

Grant: R56 AG089926

NHGRI NIH HHS

Grant: R01 HG011138

NIMH NIH HHS

Grant: R01 MH126459

National Institutes of Health

Grant: 1R56AG089926-01

Genomic Basis of Telomere Length Regulation and Consequences for Complex Traits

National Institutes of Health

Grant: 5R01HG011138-05

Advancing Multi-Omics and Electronic Health Records Computational Methodologies

National Institutes of Health

Grant: 5R01GM140287-02

Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populations

National Institutes of Health

Grant: 5R01MH126459-04

Gene Expression Regulation in Brains of East Asian, African, and European Descent Explains Schizophrenia GWAS Across Populations

FWCI

1.79

Citation Percentile

0.9%

Citation Trend

2026

hybridLicense: cc-by

journalhttps://link.springer.com/content/pdf/10.1007/s10048-025-00835-6.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s10048-025-00835-6.pdf

publisherhttps://link.springer.com/article/10.1007/s10048-025-00835-6

journalhttps://doi.org/10.1007/s10048-025-00835-6

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40788430

Fields of Study

Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects research0303 health sciences03 medical and health sciencesHumansFemaleMiddle AgedDNA Repeat ExpansionMosaicismPedigreeEpilepsies, MyoclonicAllelesGenetic TestingWhole Genome Sequencing

MeSH Terms

Whole Genome SequencingAllelesEpilepsies, MyoclonicFemaleGenetic TestingHumansMiddle AgedMosaicismPedigreeDNA Repeat Expansion

Keywords

Human geneticsMosaicBiologyGeneticsGeneDNA sequencingComputational biologyHistorySomatic MosaicismLong-read SequencingRepeat Expansion DisordersFame3Marchf6DNA Repeat ExpansionWhole Genome SequencingMosaicismResearchHumansFemaleEpilepsies, MyoclonicGenetic TestingMiddle AgedAllelesPedigree