Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
Simon, Delphine, Hindelang, Colette, Koenig, Michel, Criqui-Filipe, Paola, Tiziano, Francesco, Melki, Judith, Puccio, Hélène, Rustin, Pierre, Cossée, Mireille, Matyas, Robert
Published in Nature genetics (01.02.2001)
Published in Nature genetics (01.02.2001)
Get full text
Journal Article
Correction: The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H, Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
Get full text
Journal Article
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
Da Cunha, Dylan, Miro, Julie, Van Goethem, Charles, Notarnicola, Cécile, Hugon, Gérald, Carnac, Gilles, Cossée, Mireille, Koenig, Michel, Tuffery-Giraud, Sylvie
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
Get full text
Journal Article
Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with ‘skyline’ basal cell layer (PENS)
Bessis, Didier, Poujade, Laura, Cossée, Mireille, Boursier, Guilaine, Barat-Houari, Mouna, Tharreau, Mylene, Durand, Luc, Aguilar, Simon-Cabello, Solassol, Jérome, Willems, Marjolaine, Vendrell, Julie
Published in British journal of dermatology (1951) (03.06.2024)
Published in British journal of dermatology (1951) (03.06.2024)
Get full text
Journal Article
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
Alary, Benedicte, Cintas, Pascal, Claude, Corentin, Dellis, Olivier, Thèze, Corinne, Van Goethem, Charles, Cossée, Mireille, Krahn, Martin, Delague, Valérie, Bartoli, Marc
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
Get full text
Journal Article
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
Sabbagh, Quentin, Larrieux, Marion, Schneider, Anouck, Theze, Corinne, Vincent, Marie-Claire, Coubes, Christine, Puechberty, Jacques, Renard, Sarah, Koenig, Michel, Pellestor, Franck, Cossée, Mireille, Gatinois, Vincent
Published in European journal of human genetics : EJHG (16.07.2024)
Published in European journal of human genetics : EJHG (16.07.2024)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
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
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)
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
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data
Porcher, Raphaël, Desguerre, Isabelle, Amthor, Helge, Chabrol, Brigitte, Audic, Frédérique, Rivier, François, Isapof, Arnaud, Tiffreau, Vincent, Campana-Salort, Emmanuelle, Leturcq, France, Tuffery-Giraud, Sylvie, Ben Yaou, Rabah, Annane, Djillali, Amédro, Pascal, Barnerias, Christine, Bécane, Henri Marc, Béhin, Anthony, Bonnet, Damien, Bassez, Guillaume, Cossée, Mireille, de La Villéon, Grégoire, Delcourte, Claire, Fayssoil, Abdallah, Fontaine, Bertand, Godart, François, Guillaumont, Sophie, Jaillette, Emmanuelle, Laforêt, Pascal, Leonard-Louis, Sarah, Lofaso, Frederic, Mayer, Michele, Morales, Raul Juntas, Meune, Christophe, Orlikowski, David, Ovaert, Caroline, Prigent, Hélène, Saadi, Malika, Sochala, Maximilien, Tard, Celine, Vaksmann, Guy, Walther-Louvier, Ulrike, Eymard, Bruno, Stojkovic, Tanya, Ravaud, Philippe, Duboc, Denis, Wahbi, Karim
Published in European heart journal (21.05.2021)
Published in European heart journal (21.05.2021)
Get full text
Journal Article
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
Stoetzel, Corinne, Laurier, Virginie, Faivre, Laurence, Mégarbané, André, Perrin-Schmitt, Fabienne, Verloes, Alain, Bonneau, Dominique, Mandel, Jean-Louis, Cossee, Mireille, Dollfus, Hélène
Published in Journal of human genetics (01.01.2006)
Published in Journal of human genetics (01.01.2006)
Get full text
Journal Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Tuffery-Giraud, Sylvie, Béroud, Christophe, Leturcq, France, Yaou, Rabah Ben, Hamroun, Dalil, Michel-Calemard, Laurence, Moizard, Marie-Pierre, Bernard, Rafaëlle, Cossée, Mireille, Boisseau, Pierre, Blayau, Martine, Creveaux, Isabelle, Guiochon-Mantel, Anne, de Martinville, Bérengère, Philippe, Christophe, Monnier, Nicole, Bieth, Eric, Van Kien, Philippe Khau, Desmet, François-Olivier, Humbertclaude, Véronique, Kaplan, Jean-Claude, Chelly, Jamel, Claustres, Mireille
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
Get full text
Journal Article
Titin copy number variations associated with dominant inherited phenotypes
Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Ben Yaou, Rabah, Demidov, German, Nelson, Isabelle, Solé, Guilhem, Péréon, Yann, Bertini, Enrico Silvio, Fattori, Fabiana, D'Amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Bloch, Adrien, Ghanem, Robin, Guyant-Maréchal, Lucie, Johari, Mridul, Van Goethem, Charles, Fardeau, Michel, Morales, Raul Juntas, Genetti, Casie A, Marttila, Minttu, Koenig, Michel, Beggs, Alan, Udd, Bjarne, Bonne, Gisèle, Cossée, Mireille
Published in Journal of medical genetics (21.03.2024)
Published in Journal of medical genetics (21.03.2024)
Get full text
Journal Article
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
Get full text
Journal Article
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
Perrin, Aurélien, Juntas Morales, Raul, Rivier, François, Cances, Claude, Walther-Louvier, Ulrike, Van Goethem, Charles, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Zenagui, Reda, Uro-Coste, Emmanuelle, Leboucq, Nicolas, Malfatti, Edoardo, Delaby, Constance, Lehmann, Sylvain, Rigau, Valérie, Koenig, Michel, Cossée, Mireille
Published in Neuromuscular disorders : NMD (01.11.2020)
Published in Neuromuscular disorders : NMD (01.11.2020)
Get full text
Journal Article
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Alame, Melissa, Lacourt, Delphine, Zenagui, Reda, Mechin, Déborah, Danton, Fabienne, Koenig, Michel, Claustres, Mireille, Cossée, Mireille
Published in The Journal of molecular diagnostics : JMD (01.09.2016)
Published in The Journal of molecular diagnostics : JMD (01.09.2016)
Get full text
Journal Article
ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar‐Quiles, Rocío N., Catervi, Fabio, Cabet, Eva, Juntas‐Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce‐Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband‐Goulet, Isabelle, Ferreiro, Ana
Published in Annals of neurology (01.02.2020)
Published in Annals of neurology (01.02.2020)
Get full text
Journal Article
Web Resource
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
Get full text
Journal Article