Author

Nicholas Elwood Johnson

Virginia Commonwealth UniversityORCID 0000-0002-3917-4257Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aileen S. JonesiD· 2 shared Amanda ButleriD· 2 shared Jeanne M. DekdebruniD· 2 shared Julia M. HartmaniD· 2 shared Kameron BatesiD· 2 shared Kiera N. BerggreniD· 2 shared Kobe IkegamiiD· 2 shared Marina ProvenzanoiD· 2 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersMolecular Biology

Aileen S. JonesORCID

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3 papers

Recent·Most cited

Molecular BiologyJournal of Clinical InvestigationPeer-reviewedJan 7, 2025

The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1

Marina Provenzano, Kobe Ikegami, Kameron Bates…·Melissa A. Hale

The paper introduces the Myotonic Dystrophy Splice Index (SI) as a biomarker that correlates with muscle strength and mobility in DM1 patients.

27 citationstop 1%

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 3, 2024

RNA mis-splicing in children with myotonic dystrophy is associated with physical function

Julia M. Hartman, Kobe Ikegami, Marina Provenzano…·Melissa A. Hale

The paper investigates the relationship between RNA mis-splicing and physical function in children with congenital myotonic dystrophy, finding significant correlations and predictive models.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineMolecular Genetics & Genomic MedicinePeer-reviewedFeb 24, 2021

High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis

Russell J. Butterfield, Carina E. Imburgia, Katie Mayne…·Robert B. Weiss

The paper develops a high throughput, low-cost method for detecting CTG repeat expansions in DM1 using TP-PCR and melt curve analysis, showing accurate identification of alleles in newborn blood spots.

7 citations

humanDNA methylation

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