Author

Virginie Bernard

Centre Hospitalier Universitaire de Grenoble

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Cancer Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:gene regulatory network inference· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:clustering· 1

Frequent Co-Authors

Alice GoldenbergiD· 2 shared Amandine SantiniiD· 2 shared Anne Faudet· 2 shared Anne‐Marie GuerrotiD· 2 shared Anne‐Sophie Denommé‐PichoniD· 2 shared Benjamin CognéiD· 2 shared Benjamin GanneiD· 2 shared Boris KereniD· 2 shared

Activity by Year

2016-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alice GoldenbergORCID

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Author profile →

4 papers

Recent·Most cited

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, Pierre Marijon, Virginie Bernard, Kévin Jousselin, Nicolas Chatron, Giulia Barcia, Boris Keren, Cyril Mignot, Perrine Charles, Thomas Besnard, , Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, , Radu Harbuz

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

Nature Genetics · May 16, 2025Peer-reviewedGenetic & Genomic Medicine

Learning phenotypic patterns in genetic disease by symptom interaction modeling

Kévin Yauy, Nicolas Duforet-Frebourg, Quentin Testard, Sacha Beaumeunier, Jerome Audoux, Benoît Simard, DImitri Larue, Michaël G. B. Blum, Virginie Bernard, David Geneviève, Denis Bertrand, Nicolas Philippe, Julien Thévenon

This paper develops a symptom interaction model to address heterogeneous phenotype reporting in genetic disease, improving gene prioritization by 42%.

medRxiv · Jul 29, 2022 · PreprintGenetic & Genomic Medicine

Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction

Paul Deveau, Leo Colmet Daage, Derek Oldridge, Virginie Bernard, Angela Bellini, Mathieu Chicard, Nathalie Clement, Eve Lapouble, Valérie Combaret, Anne Boland, Vincent Meyer, Jean-François Deleuze, Isabelle Janoueix-Lerosey, Emmanuel Barillot, Olivier Delattre, , Valentina Boeva

The paper introduces QuantumClone, a method for clonal reconstruction in cancer that accounts for variant allele frequencies and genotypes, and applies it to neuroblastoma samples to identify recurrently altered pathways in different clonal populations.

bioRxiv · May 19, 2016Cancer Biology