Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Liquori, Alessandro, Vaché, Christel, Baux, David, Blanchet, Catherine, Hamel, Christian, Malcolm, Sue, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Published in Human mutation (01.02.2016)
Published in Human mutation (01.02.2016)
Get full text
Journal Article
CHM mutation spectrum and disease: An update at the time of human therapeutic trials
Zeitz, Christina, Nassisi, Marco, Laurent‐Coriat, Caroline, Andrieu, Camille, Boyard, Fiona, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie‐Elise, Frederiksen, Helen, Kloeckener‐Gruissem, Barbara, El‐Shamieh, Said, Zanlonghi, Xavier, Meunier, Isabelle, Roux, Anne‐Françoise, Mohand‐Saïd, Saddek, Sahel, José‐Alain, Audo, Isabelle
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
Get full text
Journal Article
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders
Sasorith, Souphatta, Baux, David, Bergougnoux, Anne, Paulet, Damien, Lahure, Alan, Bareil, Corinne, Taulan‐Cadars, Magali, Roux, Anne‐Françoise, Koenig, Michel, Claustres, Mireille, Raynal, Caroline
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
Get full text
Journal Article
Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Published in Molecular therapy. Methods & clinical development (12.06.2020)
Published in Molecular therapy. Methods & clinical development (12.06.2020)
Get full text
Journal Article
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses
Vaché, Christel, Torriano, Simona, Faugère, Valérie, Erkilic, Nejla, Baux, David, Garcia‐Garcia, Gema, Hamel, Christian P., Meunier, Isabelle, Zanlonghi, Xavier, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne‐Françoise
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
Get full text
Journal Article
Assessment of the latest NGS enrichment capture methods in clinical context
García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Published in Scientific reports (11.02.2016)
Published in Scientific reports (11.02.2016)
Get full text
Journal Article
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
Yauy, Kevin, Van Goethem, Charles, Pégeot, Henri, Baux, David, Guignard, Thomas, Thèze, Corinne, Ardouin, Olivier, Roux, Anne-Françoise, Koenig, Michel, Bergougnoux, Anne, Cossée, Mireille
Published in International journal of molecular sciences (01.04.2023)
Published in International journal of molecular sciences (01.04.2023)
Get full text
Journal Article
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
Vaché, Christel, Baux, David, Bianchi, Julie, Baudoin, Corinne, Faugère, Valérie, Francannet, Christine, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
Get full text
Journal Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
Vaché, Christel, Besnard, Thomas, le Berre, Pauline, García-García, Gema, Baux, David, Larrieu, Lise, Abadie, Caroline, Blanchet, Catherine, Bolz, Hanno Jörn, Millan, Jose, Hamel, Christian, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
Get full text
Journal Article
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
Sacristan-Reviriego, Almudena, Le, Hoang Mai, Georgiou, Michalis, Meunier, Isabelle, Bocquet, Beatrice, Roux, Anne-Françoise, Prodromou, Chrisostomos, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Published in Scientific reports (16.10.2020)
Published in Scientific reports (16.10.2020)
Get full text
Journal Article
Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
Baux, David, Blanchet, Catherine, Hamel, Christian, Meunier, Isabelle, Larrieu, Lise, Faugère, Valérie, Vaché, Christel, Castorina, Pierangela, Puech, Bernard, Bonneau, Dominique, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
Get full text
Journal Article
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
Kalatzis, Vasiliki, Roux, Anne-Françoise, Meunier, Isabelle
Published in Molecular diagnosis & therapy (01.11.2021)
Published in Molecular diagnosis & therapy (01.11.2021)
Get full text
Journal Article
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa
Sanjurjo-Soriano, Carla, Erkilic, Nejla, Vache, Christel, Dubois, Gregor, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki
Published in Stem cell research (01.04.2022)
Published in Stem cell research (01.04.2022)
Get full text
Journal Article
CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
Mairot, Kévin, Smirnov, Vasily, Bocquet, Béatrice, Labesse, Gilles, Arndt, Carl, Defoort-Dhellemmes, Sabine, Zanlonghi, Xavier, Hamroun, Dalil, Denis, Danièle, Picot, Marie-Christine, David, Thierry, Grunewald, Olivier, Pégart, Mako, Huguet, Hélèna, Roux, Anne-Françoise, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Meunier, Isabelle
Published in International journal of molecular sciences (23.11.2021)
Published in International journal of molecular sciences (23.11.2021)
Get full text
Journal Article
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
Vaché, Christel, Cubedo, Nicolas, Mansard, Luke, Sarniguet, Jérôme, Baux, David, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Touraine, Renaud, Lina-Granade, Geneviève, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Rossel, Mireille, Roux, Anne-Françoise
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
Get full text
Journal Article
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in International journal of molecular sciences (10.12.2021)
Published in International journal of molecular sciences (10.12.2021)
Get full text
Journal Article
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
Slijkerman, Radulfus WN, Vaché, Christel, Dona, Margo, García-García, Gema, Claustres, Mireille, Hetterschijt, Lisette, Peters, Theo A, Hartel, Bas P, Pennings, Ronald JE, Millan, José M, Aller, Elena, Garanto, Alejandro, Collin, Rob WJ, Kremer, Hannie, Roux, Anne-Françoise, Van Wijk, Erwin
Published in Molecular therapy. Nucleic acids (2016)
Published in Molecular therapy. Nucleic acids (2016)
Get full text
Journal Article
MobiDetails: online DNA variants interpretation
Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, Roux, Anne-Françoise
Published in European journal of human genetics : EJHG (01.02.2021)
Published in European journal of human genetics : EJHG (01.02.2021)
Get full text
Journal Article
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
Sanjurjo-Soriano, Carla, Jimenez-Medina, Carla, Erkilic, Nejla, Cappellino, Luisina, Lefevre, Arnaud, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Van Wijk, Erwin, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
Get full text
Journal Article