Current Issue

December 2022 - Volume 59 - 12

Genotype-phenotype correlations

Developmental defects

Therapeutics

Phenotypes

Cancer genetics

Neurogenetics

Copy-number variation

  • Original research: Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases (22 September, 2022)
    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

Epigenetics