Author

Sylvie Bourthoumieu

Centre Hospitalier Universitaire de Limoges

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alice DoreilleiD· 1 shared Aude TessieriD· 1 shared Béatrice Laudier· 1 shared Benjamin CognéiD· 1 shared Benjamin Dauriat· 1 shared Bérénice Herve· 1 shared Chantal MissirianiD· 1 shared Charles CouttoniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice DoreilleORCID

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1 paper

Recent·Most cited

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