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Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants Serey-Gaut, Margaux; Balogoun, Ralyath; Jonard, Laurence; Lina-Granade, Genevieve; 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-Francoise; Pingault, Veronique 分享 收藏
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa Vache, Christel; Faugere, Valerie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Beatrice; Cossee, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Francoise 分享 收藏
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish Derrick, Christopher J.; Szenker-Ravi, Emmanuelle; Santos-Ledo, Adrian; Alqahtani, Ahlam; Yusof, Amirah; Eley, Lorraine; Coleman, Alistair H. L.; Tohari, Sumanty; Ng, Alvin Yu-Jin; Venkatesh, Byrappa; Alharby, Essa; Mansard, Luke; Bonnet-Dupeyron, Marie-Noelle; Roux, Anne-Francoise; Vache, Christel; Roume, Joelle; Bouvagnet, Patrice; Almontashiri, Naif A. M.; Henderson, Deborah J.; Reversade, Bruno; Chaudhry, Bill 分享 收藏
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids Sanjurjo-Soriano, Carla; Jimenez-Medina, Carla; Erkilic, Nejla; Cappellino, Luisina; Lefevre, Arnaud; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe; Van Wijk, Erwin; Roux, Anne-Francoise; Meunier, Isabelle; Kalatzis, Vasiliki 分享 收藏
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss Vache, Christel; Cubedo, Nicolas; Mansard, Luke; Sarniguet, Jerome; Baux, David; Faugere, Valerie; Baudoin, Corinne; Moclyn, Melody; Touraine, Renaud; Lina-Granade, Genevieve; Cossee, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Rossel, Mireille; Roux, Anne-Francoise 分享 收藏
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Duenas; Kaeseberg, Stephan; Jaeger, Melanie; Willer, Jason R.; Winter, Jennifer; Truong, Hanh M.; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stoehr, Heidi; Mansard, Luke; Roux, Anne-Francoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M.; Van Lint, Michel; Rossmann, Heidi; Haeuser, Friederike; Nuernberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N.; De Baere, Elfride; Bolz, Hanno J. 分享 收藏
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation Agathe, Jean-Madeleine de Sainte; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurelien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossee, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Elodie; Le Guern, Eric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Francoise; Cogne, Benjamin; Baux, David 分享 收藏
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect (vol 143, pg 2380, 2020) 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 分享 收藏
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach Liautard-Haag, C.; Durif, G.; VanGoethem, C.; Baux, D.; Louis, A.; Cayrefourcq, L.; Lamairia, M.; Willems, M.; Zordan, C.; Dorian, V.; Rooryck, C.; Goizet, C.; Chaussenot, A.; Monteil, L.; Calvas, P.; Miry, C.; Favre, R.; Le Boette, E.; Fradin, M.; Roux, A. F.; Cossee, M.; Koenig, M.; Alix-Panabiere, C.; Guissart, C.; Vincent, M. C. 分享 收藏
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss Mansard, Luke; Vache, Christel; Bianchi, Julie; Baudoin, Corinne; Perthus, Isabelle; Isidor, Bertrand; Blanchet, Catherine; Baux, David; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Francoise 分享 收藏
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report Cenni, Camille; Mansard, Luke; Blanchet, Catherine; Baux, David; Vache, Christel; Baudoin, Corinne; Moclyn, Melodie; Faugere, Valerie; Mondain, Michel; Jeziorski, Eric; Roux, Anne-Francoise; Willems, Marjolaine 分享 收藏
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy Bocquet, Beatrice; Trebki, Hicham El Alami; Roux, Anne Francoise; Labesse, Gilles; Brabet, Philippe; Arndt, Carl; Zanlonghi, Xavier; Defoort-Dhellemmes, Sabine; Hamroun, Dalil; Boulicot-Seguin, Celine; Lequeux, Leopoldine; Picot, Marie Christine; Huguet, Helena; Audo, Isabelle; Dhaenens, Claire Marie; Kalatzis, Vasiliki; Meunier, Isabelle 分享 收藏
CHM mutation spectrum and disease: An update at the time of human therapeutic trials Zeitz, Christina; Nassisi, Marco; Laurent-Coriat, Caroline; Andrieu, Camille; Boyard, Fiona; Condroyer, Christel; Demontant, Vanessa; Antonio, Aline; Lancelot, Marie-Elise; Frederiksen, Helen; Kloeckener-Gruissem, Barbara; El-Shamieh, Said; Zanlonghi, Xavier; Meunier, Isabelle; Roux, Anne-Francoise; Mohand-Said, Saddek; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏
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Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration Sacristan-Reviriego, Almudena; Le, Hoang Mai; Georgiou, Michalis; Meunier, Isabelle; Bocquet, Beatrice; Roux, Anne-Francoise; Prodromou, Chrisostomos; Bainbridge, James; Michaelides, Michel; van der Spuy, Jacqueline 分享 收藏
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