Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

por Pagin, Adrien, Devos, Aurore, Figeac, Martin, Truant, Maryse, Willoquaux, Christelle, Broly, Franck, Lalau, Guy
Publicado 2016

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

por Dessein, Anne-Frédérique, Hebbar, Eléonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, Dries, Chevalier-Curt, Marie Joncquel, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie
Publicado 2022

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

por Poncet, Anaïs F., Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G., Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F., Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M., Dhaenens, Claire-Marie
Publicado 2022

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

por Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin D., Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie
Publicado 2021

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

por Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Publicado 2013