Clinical utility gene card for: Usher syndrome

by Bolz, Hanno J, Roux, Anne-Françoise
Published 2011

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

by Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria
Published 2013

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

by Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Published 2007

First molecular screening of deafness in the Altai Republic population

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

Assessment of the latest NGS enrichment capture methods in clinical context

by García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Published in Sci Rep (2016)

Correction: MobiDetails: online DNA variants interpretation

by Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, Roux, Anne-Françoise
Published in Eur J Hum Genet (2020)

MobiDetails: online DNA variants interpretation

by Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, Roux, Anne-Françoise
Published in Eur J Hum Genet (2020)

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

by Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Published in Mol Ther Methods Clin Dev (2019)

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

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

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

by Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki
Published in Sci Rep (2018)

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

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

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

by Aller, Elena, Larrieu, Lise, Jaijo, Teresa, Baux, David, Espinós, Carmen, González-Candelas, Fernando, Nájera, Carmen, Palau, Francesc, Claustres, Mireille, Roux, Anne-Françoise, Millán, José M
Published 2010

Experience of targeted Usher exome sequencing as a clinical test

by 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
Published 2014

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

by 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.
Published 2014

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

by 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 Sci Rep (2020)

Molecular epidemiology of DFNB1 deafness in France

by 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
Published 2004

Usher syndrome in Denmark: mutation spectrum and some clinical observations

by 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
Published in Mol Genet Genomic Med (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

by 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
Published in Front Genet (2020)

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

by 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
Published in Orphanet J Rare Dis (2014)

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

by 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
Published in Eur J Hum Genet (2016)