SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
Published in Brain (London, England : 1878) (01.08.2020)
Published in Brain (London, England : 1878) (01.08.2020)
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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David
Published in Human genomics (10.02.2023)
Published in Human genomics (10.02.2023)
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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)
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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)
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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)
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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
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 Frontiers in genetics (02.07.2020)
Published in Frontiers in genetics (02.07.2020)
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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss
Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in Diagnostics (Basel) (15.01.2022)
Published in Diagnostics (Basel) (15.01.2022)
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
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
Published in Diagnostics (Basel) (01.09.2021)
Published in Diagnostics (Basel) (01.09.2021)
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population
ALLER, Elena, LARRIEU, Lise, MILLAN, José M, JAIJO, Teresa, BAUX, David, ESPINOS, Carmen, GONZALEZ-CANDELAS, Fernando, NAJERA, Carmen, PALAU, Francesc, CLAUSTRES, Mireille, ROUX, Anne-Françoise
Published in European journal of human genetics : EJHG (01.07.2010)
Published in European journal of human genetics : EJHG (01.07.2010)
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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
Le Guédard-Méreuze, Sandie, Vaché, Christel, Baux, David, Faugère, Valérie, Larrieu, Lise, Abadie, Caroline, Janecke, Andreas, Claustres, Mireille, Roux, Anne-Françoise, Tuffery-Giraud, Sylvie
Published in Human mutation (01.03.2010)
Published in Human mutation (01.03.2010)
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Experience of targeted Usher exome sequencing as a clinical test
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 in Molecular genetics & genomic medicine (01.01.2014)
Published in Molecular genetics & genomic medicine (01.01.2014)
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Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
Ammar-Khodja, Fatima, Faugère, Valérie, Baux, David, Giannesini, Claire, Léonard, Susana, Makrelouf, Mohamed, Malek, Rahia, Djennaoui, Djamel, Zenati, Akila, Claustres, Mireille, Roux, Anne-Françoise
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Benkirane, Mehdi, Da Cunha, Dylan, Marelli, Cecilia, Larrieu, Lise, Renaud, Mathilde, Varilh, Jessica, Pointaux, Morgane, Baux, David, Ardouin, Olivier, Vangoethem, Charles, Taulan, Magali, Daumas Duport, Benjamin, Bergougnoux, Anne, Corbillé, Anne-Gaelle, Cossée, Mireille, Juntas Morales, Raul, Tuffery-Giraud, Sylvie, Koenig, Michel, Isidor, Bertrand, Vincent, Marie-Claire
Published in Brain (London, England : 1878) (21.11.2022)
Published in Brain (London, England : 1878) (21.11.2022)
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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)
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CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Claustres, Mireille, Thèze, Corinne, des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie‐Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie‐Claire, Reboul, Marie‐Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, Bareil, Corinne
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
Vaché, Christel, Faugère, Valérie, Baux, David, Mansard, Luke, Van Goethem, Charles, Dhaenens, Claire-Marie, Grunewald, Olivier, Audo, Isabelle, Zeitz, Christina, Meunier, Isabelle, Bocquet, Béatrice, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in European journal of human genetics : EJHG (05.07.2024)
Published in European journal of human genetics : EJHG (05.07.2024)
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The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy
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 Scientific reports (29.05.2018)
Published in Scientific reports (29.05.2018)
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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)
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Journal Article
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy
Martin, Natacha, Bergougnoux, Anne, Baatallah, Nesrine, Chevalier, Benoit, Varilh, Jessica, Baux, David, Costes, Bruno, Fanen, Pascale, Raynal, Caroline, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Taulan-Cadars, Magali, Hinzpeter, Alexandre
Published in Journal of cystic fibrosis (01.05.2021)
Published in Journal of cystic fibrosis (01.05.2021)
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