Author

Karine Nguyen

InsermORCID 0000-0002-6889-3891Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Frédérique MagdinieriD· 2 shared Amire Assoumani· 1 shared Anaı̈s BaudotiD· 1 shared Annick ToutainiD· 1 shared Bruno ReversadeiD· 1 shared Camille DioniD· 1 shared Camille HumbertiD· 1 shared Camille LaberthonnìèreiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Frédérique MagdinierORCID

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2 papers

Recent·Most cited

Comparison of long-read sequencing strategies for resolving complex genotypes at Facioscapulohumeral dystrophy-associated loci

Charlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, Loeva Morin, Christel Castro, Louis Souville, Camille Humbert, Laurène Gérard, Nathalie Eudes, Amire Assoumani, Karine Bertaux, Camille Verebi, Juliette Nectoux, Emmanuelle Salort‐Campana, Marie‐Line Jacquemont, , Frédérique Magdinier

This paper compares long-read sequencing strategies to resolve complex genotypes at FSHD-associated loci, showing that structural variants arise from intrachromosomal recombination and require high-resolution methods for accurate detection.

medRxiv · Aug 8, 2025 · PreprintGenetic & Genomic Medicine

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome

Camille Laberthonnìère, Raphaël Chevalier, Camille Dion, Mégane Delourme, David Hirst, José Adélaı̈de, Max Chaffanet, Shifeng Xue, Karine Nguyen, Bruno Reversade, Jérôme Déjardin, Anaı̈s Baudot, Jérôme D. Robin, Frédérique Magdinier

The paper investigates SMCHD1's role in two genetic syndromes, showing it regulates chromatin and gene expression through DNA methylation and chromatin organization.

bioRxiv · May 17, 2021 · PreprintGenetics