Author

Christine Coubes

Centre Hospitalier Universitaire de Montpellier

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

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1 Organism:mouse· 1

Frequent Co-Authors

Benjamin CognéiD· 3 shared Marjolaine WillemsiD· 3 shared Boris KereniD· 2 shared Cyril MignotiD· 2 shared David GenevièveiD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Julien ThévenoniD· 2 shared Albert David· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Benjamin CognéORCID

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3 papers

Recent·Most cited

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu, Matheus Vernet Machado Bressan Wilke, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen, Susan Starling Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie‐José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, , Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

medRxiv · Apr 24, 2024 · PreprintGenetic & Genomic Medicine

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, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance F. Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, , 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.

Journal of Medical Genetics · Sep 22, 2022Peer-reviewedGenetic & Genomic Medicine

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand, Marie Vincent, Maria del Mar Muñiz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Élise Schaefer, Mathilde Nizon, Bénédicte Gérard, Marc Joel Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Bürglen, , Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetic & Genomic Medicine