Author

Aurore Garde

CHU Dijon BourgogneORCID 0000-0003-3196-0453Unclaimed 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· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Nicolas ChatroniD· 2 shared A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Afif Ben‐MahmoudiD· 1 shared Agnès Guichet· 1 shared Alain VerloèsiD· 1 shared Alice GoldenbergiD· 1 shared Amandine SantiniiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Nicolas ChatronORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

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

Elsa Leitão, Amandine Santini, Benjamin Cogné…·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.

8 citationstop 1%

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintMar 31, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

2 citations

humanwhole-exome sequencing

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