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收藏ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO formatClinFly: 一种整合翻译、去标识化和总结医疗报告为HPO格式的方法
Gauthier, Lucas W.; Willems, Marjolaine; Chatron, Nicolas; Cenni, Camille; Meyer, Pierre; Ruault, Valentin; Wells, Constance; Gernet, Enody; Dunoyer, Caroline; Sabbagh, Quentin; Bardel, Claire; Genevieve, David; Yauy, Kevin 分享 收藏 Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndromeHennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stephanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valerie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlene; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Genevieve, David; Khonsari, Roman H.; Garcelon, Nicolas 分享 收藏 Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsSabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David 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 Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspectiveWells, Constance F.; Boursier, Guilaine; Yauy, Kevin; Ruiz-Pallares, Nathalie; Mechin, Deborah; Ruault, Valentin; Tharreau, Mylene; Blanchet, Patricia; Pinson, Lucile; Coubes, Christine; Fila, Marc; Baleine, Julien; Pidoux, Odile; Badr, Maliha; Milesi, Christophe; Cambonie, Gilles; Mesnage, Renaud; Dereure, Maelle; Ardouin, Olivier; Guignard, Thomas; Genevieve, David; Barat-Houari, Mouna; Willems, Marjolaine 分享 收藏 Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineYauy, Kevin; Lecoquierre, Francois; Baert-Desurmont, Stephanie; Trost, Detlef; Boughalem, Aicha; Luscan, Armelle; Costa, Jean-Marc; Geromel, Vanna; Raymond, Laure; Richard, Pascale; Coutant, Sophie; Broutin, Melanie; Lanos, Raphael; Fort, Quentin; Cackowski, Stenzel; Testard, Quentin; Diallo, Abdoulaye; Soirat, Nicolas; Holder, Jean-Marc; Duforet-Frebourg, Nicolas; Bouge, Anne-Laure; Beaumeunier, Sacha; Bertrand, Denis; Audoux, Jerome; Genevieve, David; Mesnard, Laurent; Nicolas, Gael; Thevenon, Julien; Philippe, Nicolas 分享 收藏 Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltRouxel, Flavien; Yauy, Kevin; Boursier, Guilaine; Gatinois, Vincent; Barat-Houari, Mouna; Sanchez, Elodie; Lacombe, Didier; Arpin, Stephanie; Giuliano, Fabienne; Haye, Damien; Rio, Marlene; Toutain, Annick; Dieterich, Klaus; Brischoux-Boucher, Elise; Julia, Sophie; Nizon, Mathilde; Afenjar, Alexandra; Keren, Boris; Jacquette, Aurelia; Moutton, Sebastien; Jacquemont, Marie-Line; Duflos, Claire; Capri, Yline; Amiel, Jeanne; Blanchet, Patricia; Lyonnet, Stanislas; Sanlaville, Damien; Genevieve, David 分享 收藏 Clinical and Molecular Spectrum of Nonsyndromic Early-Onset OsteoarthritisRuault, Valentin; Yauy, Kevin; Fabre, Aurelie; Fradin, Melanie; Van-Gils, Julien; Angelini, Chloe; Baujat, Genevieve; Blanchet, Patricia; Cuinat, Silvestre; Isidor, Bertrand; Jorgensen, Christian; Lacombe, Didier; Moutton, Sebastien; Odent, Sylvie; Sanchez, Elodie; Sigaudy, Sabine; Touitou, Isabelle; Willems, Marjolaine; Apparailly, Florence; Genevieve, David; Barat-Houari, Mouna 分享 收藏 分享 收藏 Ovarian Clear Cell Carcinoma in Cowden SyndromeYauy, Kevin; Imbert-Bouteille, Marion; Bubien, Virginie; Lindet-Bourgeois, Clothilde; Rathat, Gauthier; Perrochia, Helene; MacGrogan, Gaetan; Longy, Michel; Bessis, Didier; Tinat, Julie; Baert-Desurmont, Stephanie; Blanluet, Maud; Vande Perre, Pierre; Baudry, Karen; Pujol, Pascal; Corsini, Carole 分享 收藏 A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesZenagui, Reda; Lacourt, Delphine; Pegeot, Henri; Yauy, Kevin; Morales, Raul Juntas; Theze, Corine; Rivier, Francois; Cances, Claude; Sole, Guilhem; Renard, Dimitri; Walther-Louvier, Ulrike; Ferrer-Monasterio, Xavier; Espil, Caroline; Arne-Bes, Marie-Christine; Cintas, Pascal; Uro-Coste, Emmanuelle; Negrier, Marie-Laure Martin; Rigau, Valerie; Bieth, Eric; Goizet, Cyril; Claustres, Mireille; Koenig, Michel; Cossee, Mireille 分享 收藏 MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular DiagnosisYauy, Kevin; Baux, David; Pegeot, Henri; Van Goethem, Charles; Mathieu, Charly; Guignard, Thomas; Morales, Raul Juntas; Lacourt, Delphine; Krahn, Martin; Lehtokari, Vilma-Lotta; Bonne, Gisele; Tuffery-Giraud, Sylvie; Koenig, Michel; Cossee, Mireille 分享 收藏 B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutationYauy, Kevin; Mau-Them, Frederic Tran; Willems, Marjolaine; Coubes, Christine; Blanchet, Patricia; Herlin, Christian; Arrada, Ikram Taleb; Sanchez, Elodie; Faure, Jean-Michel; Le Gac, Marie-Pascale; Prodhomme, Olivier; Boland, Anne; Meyer, Vincent; Riviere, Jean-Baptiste; Duffourd, Yannis; Deleuze, Jean-Francois; Guignard, Thomas; Captier, Guillaume; Barat-Houari, Mouna; Genevieve, David 分享 收藏 
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