Author

Cédric Yvorel

Centre Hospitalier Universitaire de Saint-ÉtienneORCID 0000-0003-1644-2797Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Bjarne UddiD· 1 shared Christina Anne Austin-TseiD· 1 shared Giorgio A. TascaiD· 1 shared Heidi L. RehmiD· 1 shared Inès HarzallahiD· 1 shared Jaakko SarparantaiD· 1 shared Johanna PalmioiD· 1 shared Johanna Ranta‐ahoiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bjarne UddORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 17, 2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson…·Marco Savarese

The paper investigates ACTN2 variants causing distal myopathy and hypertrophic cardiomyopathy, finding that frameshift variants leading to protein extension cause aggregation, while missense variants do not.

2 citations

humanproteomics

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