Anne-Françoise Roux

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Duchenne Muscular Dystrophy

Bariatric Surgery

Top Venues

International journal of molecular sciences

Audiology research

European journal of human genetics : EJHG

Diagnostics (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Christel Vaché, Valérie Faugère, David Baux, Luke Mansard, Charles Van Goethem, Claire-Marie Dhaenens, Olivier Grunewald, Isabelle Audo, Christina Zeitz, Isabelle Meunier, Béatrice Bocquet, Mireille Cossee, Anne Bergougnoux, Vasiliki Kalatzis, Anne-Françoise Roux
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa. European journal of human genetics : EJHG (2024)
Laurence Jonard, Davide Brotto, Miguel Angel Moreno-Pelayo, Ignacio Del Castillo, Hannie Kremer, Ronald J E Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey-Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment. Audiology research 13 (3) (2023)
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossee
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories. International journal of molecular sciences 24 (8) (2023)
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossee
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories. International journal of molecular sciences 24 (8) (2023)
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossee
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories. International journal of molecular sciences 24 (8) (2023)
Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss. Diagnostics (Basel, Switzerland) 12 (1) (2022)
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A . International journal of molecular sciences 22 (24) (2021)
Kevin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms. International journal of molecular sciences 22 (23) (2021)