Author

Martin Krahn

InsermORCID 0000-0002-1020-802XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Marc BartoliiD· 3 shared Nicolas LévyiD· 3 shared Svetlana GorokhovaiD· 3 shared Mathieu CérinoiD· 2 shared Alexandra SalviiD· 1 shared Annamaria Molon· 1 shared Aurélia DefouriD· 1 shared Aurélien PerriniD· 1 shared

Activity by Year

2020-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Marc BartoliORCID

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Author profile →

3 papers

Recent·Most cited

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva, Corinne Métay, Isabelle Richard, Mathieu Cérino, Mathieu Milh, Emmanuelle Salort‐Campana, Svetlana Gorokhova, Nicolas Lévy, , Mireille Cossée

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

International Journal of Molecular Sciences · Jul 31, 2022Peer-reviewedGenetic & Genomic Medicine

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.

Human Mutation · Jul 15, 2020Peer-reviewedGenetics

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.

Mark Gorokhov, Mathieu Cérino, Jérémie Mortreux, Florence Riccardi, Nicolas Lévy, Marc Bartoli, Martin Krahn, Svetlana Gorokhova

CovReport provides a user-friendly tool for generating sequencing coverage summaries to aid in diagnostic reporting and interpretation.

Scientific Reports · Apr 10, 2020Peer-reviewedBioinformatics