Author

Véronique Satre

Centre National de la Recherche ScientifiqueORCID 0000-0001-7852-8591Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Charles CouttoniD· 4 shared Benjamin CognéiD· 2 shared Bertrand IsidoriD· 2 shared Chantal MissirianiD· 2 shared Julien ThévenoniD· 2 shared Lucile Pinson· 2 shared Olivier PichoniD· 2 shared Radu Harbuz· 2 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Charles CouttonORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 13, 2025

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocío Rius, Alexander J. M. Blakes, Yuyang Chen…·Nicola Whiffin

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

5 citations

human

𝕏 PostBluesky

GeneticseLifePeer-reviewedNov 7, 2023

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Denis Dacheux, Guillaume Martinez, Christine E. Broster Reix…·Charles Coutton

The paper identifies ZMYND12 as a gene associated with male infertility and flagellum function through genetic and functional studies in humans and Trypanosoma brucei.

DOI 10.7554/elife.87698.3

humanmouse

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 22, 2022

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

Quentin Testard, Xavier Vanhoye, Kévin Yauy…·Julien Thévenon

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

47 citationstop 1%

humanwhole-exome sequencing

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GeneticsbioRxivPreprintMar 18, 2017

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy…·Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

1 citation

humanstatistical model

𝕏 PostBluesky