未登录Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
Scheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene .png)
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收藏分享 收藏 AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysisGeoffroy, Veronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean 分享 收藏 Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress蛋白酶体亚基PSMC3变体由于蛋白毒性应激而导致神经感觉综合征合并耳聋和白内障Kroll-Hermi, Ariane; Ebstein, Frederic; Stoetzel, Corinne; Geoffroy, Veronique; Schaefer, Elise; Scheidecker, Sophie; Bar, Severine; Takamiya, Masanari; Kawakami, Koichi; Zieba, Barbara Agnieszka; Studer, Fouzia; Pelletier, Valerie; Speeg-Schatz, Claude; Laugel, Vincent; Lipsker, Dan; Sandron, Florian; McGinn, Steven; Boland, Anne; Deleuze, Jean-Francois; Kuhn, Lauriane; Chicher, Johana; Hammann, Philippe; Friant, Sylvie; Etard, Christelle; Krueger, Elke; Muller, Jean; Straehle, Uwe; Dollfus, Helene 分享 收藏 Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish新的IQCE变异证实了其在斑马鱼的后轴多趾中的作用并导致纤毛缺陷表型Estrada-Cuzcano, Alejandro; Etard, Christelle; Delvallee, Clarisse; Stoetzel, Corinne; Schaefer, Elise; Scheidecker, Sophie; Geoffroy, Veronique; Schneider, Aline; Studer, Fouzia; Mattioli, Francesca; Chennen, Kirsley; Sigaudy, Sabine; Plassard, Damien; Poch, Olivier; Piton, Amelie; Strahle, Uwe; Muller, Jean; Dollfus, Helene 分享 收藏 Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationRNA解旋酶DDX6中罕见的从头错义变异会导致智力障碍和畸形特征，并导致P体缺陷和RNA失调Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michele; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Veronique; Courel, Maite; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Bechec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-Francois; Szelinger, Szabolcs; Dollfus, Helene; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amelie 分享 收藏 Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathyKARS突变导致严重的神经和神经感觉疾病伴视神经病变Scheidecker, Sophie; Bar, Severine; Stoetzel, Corinne; Geoffroy, Veronique; Lannes, Beatrice; Rinaldi, Bruno; Fischer, Frederic; Becker, Hubert D.; Pelletier, Valerie; Pagan, Cecile; Acquaviva-Bourdain, Cecile; Kremer, Stephane; Mirande, Marc; Tranchant, Christine; Muller, Jean; Friant, Sylvie; Dollfus, Helene 分享 收藏 Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root PatterningLaugel-Haushalter, Virginie; Morkmued, Supawich; Stoetzel, Corinne; Geoffroy, Veronique; Muller, Jean; Boland, Anne; Deleuze, Jean-Francois; Chennen, Kirsley; Pitiphat, Waranuch; Dollfus, Helene; Niederreither, Karen; Bloch-Zupan, Agnes; Pungchanchaikul, Patimaporn 分享 收藏 Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140纤毛病患者的全基因组测序揭示了IFT140中新的复发性串联重复Geoffroy, Veronique; Stoetzel, Corinne; Scheidecker, Sophie; Schaefer, Elise; Perrault, Isabelle; Baer, Severine; Kroll, Ariane; Delbarre, Marion; Antin, Manuela; Leuvrey, Anne-Sophie; Henry, Charline; Blanche, Helene; Decker, Eva; Kloth, Katja; Klaus, Guenter; Mache, Christoph; Martin-Coignard, Dominique; McGinn, Steven; Boland, Anne; Deleuze, Jean-Francois; Friant, Sylvie; Saunier, Sophie; Rozet, Jean-Michel; Bergmann, Carsten; Dollfus, Helene; Muller, Jean 分享 收藏 Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeQuartier, Angelique; Poquet, Helene; Gilbert-Dussardier, Brigitte; Rossi, Massimiliano; Casteleyn, Anne-Sophie; des Portes, Vincent; Feger, Claire; Nourisson, Elsa; Kuentz, Paul; Redin, Claire; Thevenon, Julien; Mosca-Boidron, Anne-Laure; Callier, Patrick; Muller, Jean; Lesca, Gaetan; Huet, Frederic; Geoffroy, V. Ronique; El Chehadeh, Salima; Jung, Matthieu; Trojak, Benoit; Le Gras, Stephanie; Lehalle, Daphne; Jost, Bernard; Maury, Stephanie; Masurel, Alice; Edery, Patrick; Thauvin-Robinet, Christel; Gerard, Benedicte; Mandel, Jean-Louis; Faivre, Laurence; Piton, Amelie 分享 收藏 A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiVPS15 (PIK3R4) 中的突变导致纤毛病并影响IFT20从顺式高尔基体的释放Stoetzel, Corinne; Bar, Severine; De Craene, Johan-Owen; Scheidecker, Sophie; Etard, Christelle; Chicher, Johana; Reck, Jennifer R.; Perrault, Isabelle; Geoffroy, Veronique; Chennen, Kirsley; Strahle, Uwe; Hammann, Philippe; Friant, Sylvie; Dollfus, Helene 分享 收藏 Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar (vol 7, 70, 2016)Bloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Famanampamaharane, Rija H.; Randrianazary, Solofomanantsoa E.; Ralimanana, Louise H.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Rasoamananjara, Jeanne A.; Alson, Simone Rakoto; Dollfus, Helene 分享 收藏 Detection of a Novel DSPP Mutation by NGS in a Population Isolate in MadagascarBloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Ramanampamaharana, Rija H.; Randrianazary, Solofomanantsoa E.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Alson, Simone Rakoto; Dollfus, Helene 分享 收藏 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementPrasad, Megana K.; Geoffroy, Veronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stephanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michele; Lopez-Cazaux, Serena; Minoux, Maryline; Jung, Sophie; Obry, Frederic; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Beatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Berenice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; Molla, Muriel de la Dure; Alembik, Yves; Tardieu, Corinne; Clauss, Francois; Berdal, Ariane; Stoetzel, Corinne; Maniere, Marie Cecile; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with ChorioretinopathyTUBGCP4的突变通过常染色体隐性小头畸形伴脉络膜视网膜病变的 γ-微管蛋白环复合物改变微管组织Scheidecker, Sophie; Etard, Christelle; Haren, Laurence; Stoetzel, Corinne; Hull, Sarah; Arno, Gavin; Plagnol, Vincent; Drunat, Severine; Passemard, Sandrine; Toutain, Annick; Obringer, Cathy; Koob, Meriam; Geoffroy, Veronique; Marion, Vincent; Straehle, Uwe; Ostergaard, Pia; Verloes, Alain; Merdes, Andreas; Moore, Anthony T.; Dollfus, Helene 分享 收藏 Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaHuckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Veronique; Muller, Jean; Clauss, Francois; Prasad, Megana K.; Obry, Frederic; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerle, Joseph; Weickert, Jean-Luc; Dabovic, Branka Brukner; Rifkin, Daniel B.; Dheedene, Annelies; Boudin, Eveline; Caluseriu, Oana; Cholette, Marie-Claude; Mcleod, Ross; Antequera, Reynaldo; Gelle, Marie-Paule; Coeuriot, Jean-Louis; Jacquelin, Louis-Frederic; Bailleul-Forestier, Isabelle; Maniere, Marie-Cecile; Van Hul, Wim; Bertola, Debora; Dolle, Pascal; Verloes, Alain; Mortier, Geert; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingRedin, Claire; Gerard, Benedicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angelique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaetan; El-Chehadeh, Salima; Le Gras, Stephanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michael; Geoffroy, Veronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Helene; Doray, Berenice; Delrue, Marie-Ange; Drouin-Garraud, Valerie; Flori, Elisabeth; Fradin, Melanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michele; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amelie 分享 收藏 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Bardet-biedl综合征患者的外显子组测序确定了BBSome亚基BBIP1 (BBS18) 中的无效突变Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W.; Geoffroy, Veronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valerie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Straehle, Uwe; Nachury, Maxence V.; Dollfus, Helene 分享 收藏 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom SyndromesRedin, Claire; Le Gras, Stephanie; Mhamdi, Oussema; Geoffroy, Veronique; Stoetzel, Corinne; Vincent, Marie-Claire; Chiurazzi, Pietro; Lacombe, Didier; Ouertani, Ines; Petit, Florence; Till, Marianne; Verloes, Alain; Jost, Bernard; Chaabouni, Habiba Bouhamed; Dollfus, Helene; Mandel, Jean-Louis; Muller, Jean 分享 收藏 Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental DefectsBloch-Zupan, Agnes; Jamet, Xavier; Etard, Christelle; Laugel, Virginie; Muller, Jean; Geoffroy, Veronique; Strauss, Jean-Pierre; Pelletier, Valerie; Marion, Vincent; Poch, Olivier; Strahle, Uwe; Stoetzel, Corinne; Dollfus, Helene 分享 收藏 
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