EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

por Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria
Publicado 2013

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

por Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2007

First molecular screening of deafness in the Altai Republic population

por Posukh, Olga, Pallares-Ruiz, Nathalie, Tadinova, Vera, Osipova, Ludmila, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2005

Assessment of the latest NGS enrichment capture methods in clinical context

por García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2016

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

por Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Publicado 2019

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

por García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Publicado 2013

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

por Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki
Publicado 2018

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

por Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2022

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

por Yauy, Kevin, Van Goethem, Charles, Pégeot, Henri, Baux, David, Guignard, Thomas, Thèze, Corinne, Ardouin, Olivier, Roux, Anne-Françoise, Koenig, Michel, Bergougnoux, Anne, Cossée, Mireille
Publicado 2023

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

por Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria
Publicado 2013

Experience of targeted Usher exome sequencing as a clinical test

por Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

por García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Publicado 2014

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

por 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
Publicado 2020

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

por Cenni, Camille, Mansard, Luke, Blanchet, Catherine, Baux, David, Vaché, Christel, Baudoin, Corinne, Moclyn, Mélodie, Faugère, Valérie, Mondain, Michel, Jeziorski, Eric, Roux, Anne-Françoise, Willems, Marjolaine
Publicado 2021

Molecular epidemiology of DFNB1 deafness in France

por Roux, Anne-Françoise, Pallares-Ruiz, Nathalie, Vielle, Anne, Faugère, Valérie, Templin, Carine, Leprevost, Dorothée, Artières, Françoise, Lina, Geneviève, Molinari, Nicolas, Blanchet, Patricia, Mondain, Michel, Claustres, Mireille
Publicado 2004

Usher syndrome in Denmark: mutation spectrum and some clinical observations

por Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk
Publicado 2016

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

por Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
Publicado 2020

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

por 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
Publicado 2023

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

por Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Publicado 2014

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

por Girardet, Anne, Viart, Victoria, Plaza, Stéphanie, Daina, Gemma, De Rycke, Martine, Des Georges, Marie, Fiorentino, Francesco, Harton, Gary, Ishmukhametova, Aliya, Navarro, Joaquima, Raynal, Caroline, Renwick, Pamela, Saguet, Florielle, Schwarz, Martin, SenGupta, Sioban, Tzetis, Maria, Roux, Anne-Françoise, Claustres, Mireille
Publicado 2016