Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

by Céline Bris, Céline Bris, David Goudenege, David Goudenege, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Estelle Colin, Dominique Bonneau, Dominique Bonneau, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Pascal Reynier, Vincent Procaccio, Vincent Procaccio
Published 2018-12-01

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

by Majida Charif, Majida Charif, Céline Bris, Céline Bris, David Goudenège, David Goudenège, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Estelle Colin, Estelle Colin, Alban Ziegler, Alban Ziegler, Vincent Procaccio, Vincent Procaccio, Pascal Reynier, Pascal Reynier, Dominique Bonneau, Dominique Bonneau, Guy Lenaers, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau
Published 2021-03-01

Stable and Local Reservoirs of Mycobacterium ulcerans Inferred from the Nonrandom Distribution of Bacterial Genotypes, Benin

by Clément Coudereau, Alban Besnard, Marie Robbe-Saule, Céline Bris, Marie Kempf, Roch Christian Johnson, Télésphore Yao Brou, Ronald Gnimavo, Sara Eyangoh, Fida Khater, Estelle Marion
Published 2020-03-01

Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns

by Audrey Monnin, Valérie Desquiret-Dumas, Nicolas Méda, David Goudenège, Céline Bris, Chipepo Kankasa, Mandisa Singata-Madliki, Thorkild Tylleskar, Vincent Procaccio, Nicolas Nagot, Philippe Van de Perre, Pascal Reynier, Jean-Pierre Molès
Published 2021-05-01

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

by Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Published 2021-08-01

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

by Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Christophe Verny, Christian Hamel, Dan Miléa, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Published 2016-06-01