Gene panel sequencing in idiopathic erythrocytosis

by François Girodon, Fabrice Airaud, Céline Garrec, Stéphane Bézieau, Betty Gardie
Published 2017-01-01

Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

by Antoine Geay, Bernard Aral, Valentin Bourgeois, Pauline Martin, Fabrice Airaud, Céline Garrec, Stéphane Bézieau, Betty Gardie, François Girodon
Published 2020-05-01

MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer

by Guillaume Herbreteau, Fabrice Airaud, Elise Pierre-Noël, Audrey Vallée, Stéphane Bézieau, Sandrine Théoleyre, Hélène Blons, Simon Garinet, Marc Guillaume Denis
Published 2021-08-01

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

by Nada Maaziz, Céline Garrec, Fabrice Airaud, Victor Bobée, Nathalie Contentin, Emilie Cayssials, Antoine Rimbert, Bernard Aral, Stéphane Bézieau, Betty Gardie, François Girodon
Published 2023-05-01

Low incidence of <i>EPOR</i> mutations in idiopathic erythrocytosis

by Mathilde Filser, Bernard Aral, Fabrice Airaud, Aurélie Chauveau, Aisha Bruce, Yann Polfrit, Anne Thiebaut, Martin Gauthier, Cédric Le Maréchal, Eric Lippert, Stéphane Béziau, Céline Garrec, Betty Gardie, François Girodon
Published 2020-03-01

Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis

by Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie
Published 2023-01-01

Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis

by Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stéphane Bézieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frédéric Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, François Girodon, Betty Gardie, ECYT consortium
Published 2023-06-01