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

Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon

Open source

DOI: 10.1136/jmg-2022-108439
Published: 2022-09-22
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmg-2022-108439,
  title = {Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases},
  author = {Quentin Testard and Xavier Vanhoye and Kevin Yauy and Marie-Emmanuelle Naud and Gaelle Vieville and Francis Rousseau and Benjamin Dauriat and Valentine Marquet and Sylvie Bourthoumieu and David Geneviève and Vincent Gatinois and Constance Wells and Marjolaine Willems and Christine Coubes and Lucile Pinson and Rodolphe Dard and Aude Tessier and Bérénice Hervé and François Vialard and Ines Harzallah and Renaud Touraine and Benjamin Cogné and Wallid Deb and Thomas Besnard and Olivier Pichon and Béatrice Laudier and Laurent Mesnard and Alice Doreille and Tiffany Busa and Chantal Missirian and Véronique Satre and Charles Coutton and Tristan Celse and Radu Harbuz and Laure Raymond and Jean-François Taly and Julien Thevenon},
  year = {2022},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmg-2022-108439},
  url = {https://doi.org/10.1136/jmg-2022-108439}
}

RIS

TY  - JOUR
TI  - Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
AU  - Quentin Testard
AU  - Xavier Vanhoye
AU  - Kevin Yauy
AU  - Marie-Emmanuelle Naud
AU  - Gaelle Vieville
AU  - Francis Rousseau
AU  - Benjamin Dauriat
AU  - Valentine Marquet
AU  - Sylvie Bourthoumieu
AU  - David Geneviève
AU  - Vincent Gatinois
AU  - Constance Wells
AU  - Marjolaine Willems
AU  - Christine Coubes
AU  - Lucile Pinson
AU  - Rodolphe Dard
AU  - Aude Tessier
AU  - Bérénice Hervé
AU  - François Vialard
AU  - Ines Harzallah
AU  - Renaud Touraine
AU  - Benjamin Cogné
AU  - Wallid Deb
AU  - Thomas Besnard
AU  - Olivier Pichon
AU  - Béatrice Laudier
AU  - Laurent Mesnard
AU  - Alice Doreille
AU  - Tiffany Busa
AU  - Chantal Missirian
AU  - Véronique Satre
AU  - Charles Coutton
AU  - Tristan Celse
AU  - Radu Harbuz
AU  - Laure Raymond
AU  - Jean-François Taly
AU  - Julien Thevenon
PY  - 2022
JO  - Journal of Medical Genetics
DO  - 10.1136/jmg-2022-108439
UR  - https://doi.org/10.1136/jmg-2022-108439
ER  -

APA

Testard, Q., Vanhoye, X., Yauy, K., Naud, M., Vieville, G., Rousseau, F., Dauriat, B., Marquet, V., Bourthoumieu, S., Geneviève, D., Gatinois, V., Wells, C., Willems, M., Coubes, C., Pinson, L., Dard, R., Tessier, A., Hervé, B., Vialard, F., Harzallah, I., Touraine, R., Cogné, B., Deb, W., Besnard, T., Pichon, O., Laudier, B., Mesnard, L., Doreille, A., Busa, T., Missirian, C., Satre, V., Coutton, C., Celse, T., Harbuz, R., Raymond, L., Taly, J., & Thevenon, J. (2022). Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2022-108439

Source records

crossref · retrieved 2026-09-27T10:52:39.034Z