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收藏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 Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationRanta-aho, Johanna; Felice, Kevin J.; Jonson, Per Harald; Sarparanta, Jaakko; Yvorel, Cedric; Harzallah, Ines; Touraine, Renaud; Pais, Lynn; Austin-Tse, Christina A.; Ganesh, Vijay S.; O'Leary, Melanie C.; Rehm, Heidi L.; Hehir, Michael K.; Subramony, Sub; Wu, Qian; Udd, Bjarne; Savarese, Marco 分享 收藏 Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille 分享 收藏 Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossVache, 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 Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceJacquemin, Valerie; Versbraegen, Nassim; Duerinckx, Sarah; Massart, Annick; Soblet, Julie; Perazzolo, Camille; Deconinck, Nicolas; Brischoux-Boucher, Elise; De Leener, Anne; Revencu, Nicole; Janssens, Sandra; Moorgat, Stephanie; Blaumeiser, Bettina; Avela, Kristiina; Touraine, Renaud; Abou Jaoude, Imad; Keymolen, Kathelijn; Saugier-Veber, Pascale; Lenaerts, Tom; Abramowicz, Marc; Pirson, Isabelle 分享 收藏 Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesTestard, Quentin; Vanhoye, Xavier; Yauy, Kevin; Naud, Marie-Emmanuelle; Vieville, Gaelle; Rousseau, Francis; Dauriat, Benjamin; Marquet, Valentine; Bourthoumieu, Sylvie; Genevieve, David; Gatinois, Vincent; Wells, Constance; Willems, Marjolaine; Coubes, Christine; Pinson, Lucile; Dard, Rodolphe; Tessier, Aude; Herve, Berenice; Vialard, Francois; Harzallah, Ines; Touraine, Renaud; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Pichon, Olivier; Laudier, Beatrice; Mesnard, Laurent; Doreille, Alice; Busa, Tiffany; Missirian, Chantal; Satre, Veronique; Coutton, Charles; Celse, Tristan; Harbuz, Radu; Raymond, Laure; Taly, Jean-Francois; Thevenon, Julien 分享 收藏 Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsRosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Nasab, Mahya Ebrahimi; Hussien, Haytham; Omar, Tarek E., I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad 分享 收藏 Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complexNeal, Andrew; Bouet, Romain; Lagarde, Stanislas; Ostrowsky-Coste, Karine; Maillard, Louis; Kahane, Philippe; Touraine, Renaud; Catenoix, Helene; Montavont, Alexandra; Isnard, Jean; Arzimanoglou, Alexis; Hermier, Marc; Guenot, Marc; Bartolomei, Fabrice; Rheims, Sylvain; Jung, Julien 分享 收藏 Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; D'Augeres, Guillaume B.; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J. Chris 分享 收藏 Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy80例复杂心脏畸形和/或异位胎儿的下一代测序Liu, Hui; Giguet-Valard, Anna-Gaelle; Simonet, Thomas; Szenker-Ravi, Emmanuelle; Lambert, Laetitia; Vincent-Delorme, Catherine; Scheidecker, Sophie; Fradin, Melanie; Morice-Picard, Fanny; Naudion, Sophie; Ciorna-Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierre-Simon; Francannet, Christine; Petit, Florence; Moutton, Sebastien; Lehalle, Daphne; Chassaing, Nicolas; El Zein, Loubna; Bazin, Anne; Beneteau, Claire; Attie-Bitach, Tania; Hanu, Sylvie M.; Brechard, Marie-Pierre; Chiesa, Jean; Pasquier, Laurent; Rooryck-Thambo, Caroline; Van Maldergem, Lionel; Cabrol, Christelle; El Chehadeh, Salima; Vasiljevic, Alexandre; Isidor, Bertrand; Abel, Carine; Thevenon, Julien; Di Filippo, Sylvie; Vigouroux-Castera, Adeline; Attia, Jocelyne; Quelin, Chloe; Odent, Sylvie; Piard, Juliette; Giuliano, Fabienne; Putoux, Audrey; Khau Van Kien, Philippe; Yardin, Catherine; Touraine, Renaud; Reversade, Bruno; Bouvagnet, Patrice 分享 收藏 Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSMazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betul; Muona, Mikko; Joensuu, Tarja H.; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F.; Lehesjoki, Anna-Elina; Lesca, Gaetan 分享 收藏 Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research projectde Vries, Petrus J.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; Beure d'Augeres, Guillaume; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, J. Chris; Jansen, Anna C. 分享 收藏 Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsLefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; Assoum, Mirna; Schaefer, Elise; Chehadeh, Salima El; Antal, Maria Cristina; Kremer, Valerie; Girard-Lemaitre, Francoise; Mandel, Jean-Louis; Lehalle, Daphne; Nambot, Sophie; Jean-Marcais, Nolwenn; Houcinat, Nada; Moutton, Sebastien; Marle, Nathalie; Lambert, Laetita; Jonveaux, Philippe; Foliguet, Bernard; Mazutti, Jean-Pierre; Gaillard, Dominique; Alanio, Elisabeth; Poirisier, Celine; Lebre, Anne-Sophie; Aubert-Lenoir, Marion; Arbez-Gindre, Francine; Odent, Sylvie; Quelin, Chloe; Loget, Philippe; Fradin, Melanie; Willems, Marjolaine; Bigi, Nicole; Perez, Marie-Jose; Blesson, Sophie; Francannet, Christine; Beaufrere, Anne-Marie; Patrier-Sallebert, Sophie; Guerrot, Anne-Marie; Goldenberg, Alice; Brehin, Anne-Claire; Lespinasse, James; Touraine, Renaud; Capri, Yline; Saint-Frison, Marie-Helene; Laurent, Nicole; Philippe, Christophe; Mau-Them, Frederic Tran; Thevenon, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Vitobello, Antonio 分享 收藏 Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic studyNeal, Andrew; Ostrowsky-Coste, Karine; Jung, Julien; Lagarde, Stanislas; Maillard, Louis; Kahane, Philippe; Touraine, Renaud; Catenoix, Helene; Montavont, Alexandra; Isnard, Jean; Arzimanoglou, Alexis; Bartolomei, Fabrice; Guenot, Marc; Rheims, Sylvain 分享 收藏 Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyJourdan-Voyen, Laurelia; Touraine, Renaud; Masutti, Jean-Pierre; Busa, Tiffany; Vincent-Delorme, Catherine; Dreyfus, Lelia; Molin, Arnaud; Savey, Baptiste; Mounzer, Abraham; Assaf, Ziad; Atallah, Veronique; Cruz, Vanessa; Gaillard, Dominique; Leroy-Terquem, Elise; Mouton, Jean-Baptiste; Ghoumid, Jamal; Picaud, Jean-Charles; Dijoud, Frederique; Bouquillon, Sonia; Baumann, Cedric; Lambert, Laetitia 分享 收藏 Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutationsRemeran, Ganaelle; Boespflug-Tanguy, Odile; Tonduti, Davide; Touraine, Enaud; Rodriguez, Diana; Curie, Aurore; Perreton, Nathalie; Des Portes, Vincent; Sarret, Catherine; Afenjar, Alexandra; Burglen, Lydie; Castellotti, Barbara; Cuntz, Danielle; Desguerre, Isabelle; Doummar, Diane; Estienne, Margherita; Freri, Elena; Heron, Delphine; Moutard, Marie-Laure; Novara, Francesca; Orcesi, Simona; Saletti, Veronica; Zibordi, Federica 分享 收藏 A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndromeAbdelwahed, Mayssa; Touraine, Renaud; Ben-Rhouma, Bochra; Dhieb, Dhoha; Mars, Manel; Kammoun, Khawla; Hachicha, Jamil; Triki, Chahnez; Kamoun, Hassen; Keskes-Ammar, Leila; Belguith, Neila 分享 收藏 Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum DisorderMasson, Julie; Demily, Caroline; Chatron, Nicolas; Labalme, Audrey; Rollat-Farnier, Pierre-Antoine; Schluth-Bolard, Caroline; Gilbert-Dussardier, Brigitte; Giuliano, Fabienne; Touraine, Renaud; Tordjman, Sylvie; Verloes, Alain; Testa, Giuseppe; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Rossi, Massimiliano 分享 收藏 Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders全基因组配对末端测序阐明发育障碍患者平衡染色体重排的功能和表型后果Schluth-Bolard, Caroline; Diguet, Flavie; Chatron, Nicolas; Rollat-Farnier, Pierre-Antoine; Bardel, Claire; Afenjar, Alexandra; Amblard, Florence; Amiel, Jeanne; Blesson, Sophie; Callier, Patrick; Capri, Yline; Collignon, Patrick; Cordier, Marie-Pierre; Coubes, Christine; Demeer, Benedicte; Chaussenot, Annabelle; Demurger, Florence; Devillard, Francoise; Doco-Fenzy, Martine; Dupont, Celine; Dupont, Jean-Michel; Dupuis-Girod, Sophie; Faivre, Laurence; Gilbert-Dussardier, Brigitte; Guerrot, Anne-Marie; Houlier, Marine; Isidor, Bertrand; Jaillard, Sylvie; Joly-Helas, Geraldine; Kremer, Valerie; Lacombe, Didier; Le Caignec, Cedric; Lebbar, Aziza; Lebrun, Marine; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Malan, Valerie; Mathieu-Dramard, Michele; Masson, Julie; Masurel-Paulet, Alice; Mignot, Cyril; Missirian, Chantal; Morice-Picard, Fanny; Moutton, Sebastien; Nadeau, Gwenael; Pebrel-Richard, Celine; Odent, Sylvie; Paquis-Flucklinger, Veronique; Pasquier, Laurent; Philip, Nicole; Plutino, Morgane; Pons, Linda; Portnoi, Marie-France; Prieur, Fabienne; Puechberty, Jacques; Putoux, Audrey; Rio, Marlene; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sarret, Catherine; Satre, Veronique; Siffroi, Jean-Pierre; Till, Marianne; Touraine, Renaud; Toutain, Annick; Toutain, Jerome; Valence, Stephanie; Verloes, Alain; Whalen, Sandra; Edery, Patrick; Tabet, Anne-Claude; Sanlaville, Damien 分享 收藏 
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