2022
- The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Télécharger
Catherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet and Hélène Dollfus, for the DEFIDIAG Study group ; Frontiers in Genetics ; 2022
- Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG StudyTélécharger
Christine Binquet, Catherine Lejeune, Laurence Faivre, Marion Bouctot, Marie-Laure Asensio, Alban Simon, Jean-François Deleuze, Anne Boland, Francis Guillemin, Valérie Seror, Christelle Delmas, Hélène Espérou, Yannis Duffourd, Stanislas Lyonnet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Bénédicte Gerard and Hélène Dollfus, for the DEFIDIAG study group ; Frontiers in Genetics ; 2022
2021
Catherine Lejeune, Ines F Amado, DEFIDIAG study group, FHU Translad and Aviesan ; Journal of Community Genetics ; 2021
- Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Télécharger
Antoine Italiano, Derek Dinart, Isabelle Soubeyran, Carine Bellera, Hélène Espérou, Christelle Delmas, Noémie Mercier, Sabrina Albert, Ludivine Poignie, Anne Boland, Aurélien Bourdon, Damien Geneste, Quentin Cavaille, Yec’han Laizet, Emmanuel Khalifa, Céline Auzanneau, Barbara Squiban, Nathalène Truffaux, Robert Olaso, Zuzana Gerber, Cédrick Wallet, Antoine Bénard, Jean-Yves Blay, Pierre Laurent-Puig, Jean-François Deleuze, Carlo Lucchesi, Simone Mathoulin-Pelissier and the MULTISARC study group ; BMC Cancer ; 2021
2020
Marie Gaille, Ruth Horn, The UK-FR GENE (Genetics and Ethics Network) Consortia ; European Journal of Human Genetics ; 2020
- Predictive molecular pathology in non-small cell lung cancer in France: The past, the present and the perspectivesTélécharger
Paul Hofman, Etienne Rouleau, Jean-Christophe Sabourin, Marc Denis, Jean-François Deleuze, Fabrice Barlesi, Pierre Laurent-Puig ; Cancer Cytopathology ; 2020
- Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the FMG2025Télécharger
FMG2025 Workflow study group (Alliance nationale des sciences de la Vie et de la santé), et al. ; ESMO Open ; 2020