Works by Roux, Anne‐Françoise

Results: 36

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. 323, doi. 10.1002/humu.24174

By:

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

Publication type:

Article

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 375, doi. 10.1002/humu.23941

By:

Sasorith, Souphatta;
Baux, David;
Bergougnoux, Anne;
Paulet, Damien;
Lahure, Alan;
Bareil, Corinne;
Taulan‐Cadars, Magali;
Roux, Anne‐Françoise;
Koenig, Michel;
Claustres, Mireille;
Raynal, Caroline

Publication type:

Article

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 31, doi. 10.1002/humu.23671

By:

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

Publication type:

Article

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 184, doi. 10.1002/humu.22926

By:

Liquori, Alessandro;
Vaché, Christel;
Baux, David;
Blanchet, Catherine;
Hamel, Christian;
Malcolm, Sue;
Koenig, Michel;
Claustres, Mireille;
Roux, Anne‐Françoise

Publication type:

Article

Enrichment of LOVD- USHbases with 152 USH2 A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1179, doi. 10.1002/humu.22608

By:

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

Publication type:

Article

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.

Published in:

Human Mutation, 2013, v. 34, n. 5, p. 774, doi. 10.1002/humu.22291

By:

Raynal, Caroline;
Baux, David;
Theze, Corinne;
Bareil, Corinne;
Taulan, Magali;
Roux, Anne‐Françoise;
Claustres, Mireille;
Tuffery‐Giraud, Sylvie;
des Georges, Marie

Publication type:

Article

Non- USH2A mutations in USH2 patients.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004

By:

Besnard, Thomas;
Vaché, Christel;
Baux, David;
Larrieu, Lise;
Abadie, Caroline;
Blanchet, Catherine;
Odent, Sylvie;
Blanchet, Patricia;
Calvas, Patrick;
Hamel, Christian;
Dollfus, Hélène;
Lina-Granade, Geneviève;
Lespinasse, James;
David, Albert;
Isidor, Bertrand;
Morin, Gilles;
Malcolm, Sue;
Tuffery-Giraud, Sylvie;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634

By:

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

Publication type:

Article

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 734, doi. 10.1002/humu.21255

By:

Vaché, Christel;
Besnard, Thomas;
Blanchet, Catherine;
Baux, David;
Larrieu, Lise;
Faugère, Valérie;
Mondain, Michel;
Hamel, Christian;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 347, doi. 10.1002/humu.21193

By:

Le Guédard-Méreuze, Sandie;
Vaché, Christel;
Baux, David;
Faugère, Valérie;
Larrieu, Lise;
Abadie, Caroline;
Janecke, Andreas;
Claustres, Mireille;
Roux, Anne-Françoise;
Tuffery-Giraud, Sylvie

Publication type:

Article

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

Published in:

Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131

By:

Van Kien, Philippe Khau;
Baux, David;
Pallares-Ruiz, Nathalie;
Baudoin, Corinne;
Plancke, Aurélie;
Chassaing, Nicolas;
Collignon, Patrick;
Drouin-Garraud, Valérie;
Hovnanian, Alain;
Martin-Coignard, Dominique;
Collod-Béroud, Gwenaëlle;
Béroud, Christophe;
Roux, Anne-Françoise;
Claustres, Mireille

Publication type:

Article

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1329, doi. 10.1002/humu.21070

By:

Guédard-Méreuze, Sandie Le;
Vaché, Christel;
Molinari, Nicolas;
Vaudaine, Julie;
Claustres, Mireille;
Roux, Anne-Françoise;
Tuffery-Giraud, Sylvie

Publication type:

Article

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E76, doi. 10.1002/humu.20780

By:

Baux, David;
Faugère, Valérie;
Larrieu, Lise;
Le Guédard-Méreuze, Sandie;
Hamroun, Dalil;
Béroud, Christophe;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Published in:

Human Mutation, 2007, v. 28, n. 8, p. 781, doi. 10.1002/humu.20513

By:

Baux, David;
Larrieu, Lise;
Blanchet, Catherine;
Hamel, Christian;
Ben Salah, Safouane;
Vielle, Anne;
Gilbert-Dussardier, Brigitte;
Holder, Muriel;
Calvas, Patrick;
Philip, Nicole;
Edery, Patrick;
Bonneau, Dominique;
Claustres, Mireille;
Malcolm, Sue;
Roux, Anne-Françoise

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14

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.

Publication type:

Article

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 4, p. 470, doi. 10.1080/13816810.2022.2051191

By:

Meunier, Audrey;
Zanlonghi, Xavier;
Roux, Anne-Françoise;
Fils, Jean-François;
Caspers, Laure;
Migeotte, Isabelle;
Abramowicz, Marc;
Meunier, Isabelle

Publication type:

Article

Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461

By:

Guissart, Claire;
Xiuju Li;
Leheup, Bruno;
Drouot, Nathalie;
Montaut-Verient, Bettina;
Raffo, Emmanuel;
Jonveaux, Philippe;
Roux, Anne-Françoise;
Claustres, Mireille;
Fliegel, Larry;
Koenig, Michel

Publication type:

Article

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1

By:

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

Publication type:

Article

Assessment of the latest NGS enrichment capture methods in clinical context.

Published in:

Scientific Reports, 2016, p. 20948, doi. 10.1038/srep20948

By:

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

Publication type:

Article

A heat shock gene at 14q22: mapping and expression.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1819

By:

Roux, Anne-Françoise;
Nguyen, T.T. Van;
Squire, Jeremy A.;
Cox, Diane W.

Publication type:

Article

Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 6, p. 821

By:

Roux, Anne-Françoise;
Yuan, Chu Chin;
Rommens, Johanna M.;
Musarella, Maria A.

Publication type:

Article

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7

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

Publication type:

Article

Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.

Published in:

2004

By:

Venail, Frédéric;
Roux, Anne-Françoise;
Pallares-Ruiz, Nathalie;
Claustres, Mireille;
Blanchet, Patricia;
Gardiner, Quentin;
Mondain, Michel

Publication type:

journal article

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.839

By:

Lerat, Justine;
Magdelaine, Corinne;
Roux, Anne‐Françoise;
Darnaud, Léa;
Beauvais‐Dzugan, Hélène;
Naud, Steven;
Richard, Laurence;
Derouault, Paco;
Ghorab, Karima;
Magy, Laurent;
Vallat, Jean‐Michel;
Cintas, Pascal;
Bieth, Eric;
Arne‐Bes, Marie‐Christine;
Goizet, Cyril;
Espil‐Taris, Caroline;
Journel, Hubert;
Toutain, Annick;
Urtizberea, Jon Andoni;
Boespflug‐Tanguy, Odile

Publication type:

Article

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228

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

Publication type:

Article

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

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74516-9

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1325, doi. 10.1038/ejhg.2013.83

By:

Hoefsloot, Lies H;
Roux, Anne-Françoise;
Bitner-Glindzicz, Maria

Publication type:

Article

Clinical utility gene card for: Usher syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.15

By:

Bolz, Hanno J.;
Roux, Anne-Françoise

Publication type:

Article

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

Published in:

Molecular Diagnosis & Therapy, 2021, v. 25, n. 6, p. 661, doi. 10.1007/s40291-021-00558-y

By:

Kalatzis, Vasiliki;
Roux, Anne-Françoise;
Meunier, Isabelle

Publication type:

Article

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

Published in:

Diagnostics (2075-4418), 2022, v. 12, n. 1, p. 207, doi. 10.3390/diagnostics12010207

By:

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

Publication type:

Article

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

Published in:

2021

By:

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

Publication type:

Case Study

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

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7330, doi. 10.3390/ijms24087330

By:

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

Publication type:

Article

CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12642, doi. 10.3390/ijms222312642

By:

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

Publication type:

Article

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.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00623

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

Publication type:

Article

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Published in:

Human Genetics, 2025, v. 144, n. 4, p. 433, doi. 10.1007/s00439-025-02730-4

By:

Serey-Gaut, Margaux;
Balogoun, Ralyath;
Jonard, Laurence;
Lina-Granade, Geneviève;
Touraine, Renaud;
Willems, Marjolaine;
Hepp, Nicola;
Rendtorff, Nanna Dahl;
Bertelsen, Mette;
Loundon, Natalie;
Couloigner, Vincent;
Lemiere, Isabelle;
de Oliveira, Judite;
Romana, Serge;
Porteret, Camille;
Blanc, Pierre;
Mansard, Luke;
Marlin, Sandrine;
Roux, Anne-Françoise;
Pingault, Véronique

Publication type:

Article

Molecular epidemiology of DFNB1 deafness in France.

Published in:

BMC Medical Genetics, 2004, v. 5, p. 5, doi. 10.1186/1471-2350-5-5

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

Publication type:

Article