Author

Véronique Geoffroy

InsermORCID 0000-0002-4149-0857Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

Anne BolandiD· 3 shared Florian SandroniD· 3 shared Jean‐François DeleuzeiD· 3 shared Anne Vogelsperger· 2 shared Anthony F. HerzigiD· 2 shared Aude Saint PierreiD· 2 shared Benjamin Grenier‐BoleyiD· 2 shared Camille Charbonnier-Le Clézio· 2 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Anne BolandORCID

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3 papers

Recent·Most cited

SURFBAT: a surrogate family-based association test building on large imputation reference panels

Anthony F. Herzig, Simone Rubinacci, Gaëlle Marenne, Hervé Perdry, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas E Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, , Olivier Delaneau

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

G3 Genes Genomes Genetics · Dec 9, 2024Peer-reviewedGenetics

Can imputation in a European country be improved by local reference panels? The example of France

Anthony F. Herzig, Lourdes Velo‐Suárez, Principal Investigators, Dominique Campion, Jean‐François Dartigues, Jean‐Charles Lambert, Collaborators, Bioinformatics, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Statistical genetics, , Emmanuelle Génin

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

Scientific Reports · Jan 3, 2024Peer-reviewedGenetics

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, , Hélène Dollfus

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.

EMBO Molecular Medicine · Jun 5, 2020Peer-reviewedGenetics