未登录A predictive model for life-threatening fluoropyrimidine toxicity based on DPYD sequencing in colorectal cancer基于DPYD测序的结直肠癌患者危及生命氟嘧啶毒性的预测模型
Valérie Boige, MD; Estelle Menoret, MSc; Gwénaël Le Teuff, PhD; Jean-Christophe Boyer, PhD; Nathalie Cozic, MSc; Jean-Pierre Desvignes, MSc; Julien Taieb, MD; Pierre Laurent-Puig, MD; Yvonne Wettergren, PhD; Matthias Schwab, MD; Stephen Ackland, MBBS; Barbara Jennings, PhD; Anne Sudaka, MD; Eva Seutin, MSc; Christophe Beroud, PhD; Yves Koudou, MSc; Marie-Christine Etienne-Grimaldi, PhD; FUSAFE-2 (Fluoropyrimidine Safe-2) Collaborative Group .png)
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收藏Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entriesMougel, Gregory; Mohamed, Amira; Burnichon, Nelly; Giraud, Sophie; Pigny, Pascal; Bressac-de Paillerets, Brigitte; Mirebeau-Prunier, Delphine; Buffet, Alexandre; Savagner, Frederique; Romanet, Pauline; Arlot, Yannick; Gardie, Betty; Gimenez-Roqueplo, Anne-Paule; Beroud, Christophe; Richard, Stephane; Barlier, Anne 分享 收藏 Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic AnalysisRobert, Thomas; Greillier, Sophie; Torrents, Julia; Raymond, Laure; Dancer, Marine; Jourde-Chiche, Noemie; Halimi, Jean-Michel; Burtey, Stephane; Beroud, Christophe; Mesnard, Laurent 分享 收藏 分享 收藏 分享 收藏 DPYD gene sequencing and in silico functionality prediction of polymorphisms in 3,471 colorectal cancer patients treated with fluoropyrimidine (FP)Etienne-Grimaldi, M-C.; Boyer, J-C. C.; Menoret, E.; Desvignes, J-P.; Boige, V.; Taieb, J.; Laurent-Puig, P.; Wettergren, Y. A.; Schwab, M.; Ackland, S. P.; Jennings, B.; Seutin, E.; Rousset, J.; Le Teuff, G.; Cozic, N.; Koudou, Y.; Beroud, C. 分享 收藏 Highlighting the Dystonic Phenotype Related to GNAO1突出显示与ginao1相关的肌张力障碍表型Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jeremie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaetan; Calmels, Nadege; Nemeth, Andrea H.; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Meneret, Aurelie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando, Jr.; Nowak, Catherine; Wilson, William G.; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu 分享 收藏 Convergence of patient-and physician-reported outcomes in the French National Registry of Facioscapulohumeral DystrophySanson, Benoit; Stalens, Caroline; Guien, Celine; Villa, Luisa; Eng, Catherine; Rabarimeriarijaona, Sitraka; Bernard, Rafaelle; Cintas, Pascal; Sole, Guilhem; Tiffreau, Vincent; Echaniz-Laguna, Andoni; Magot, Armelle; Morales, Raul Juntas; Boyer, Francois Constant; Nadaj-Pakleza, Aleksandra; Jacquin-Piques, Agnes; Beroud, Christophe; Sacconi, Sabrina 分享 收藏 The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesLaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi 分享 收藏 Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignanciesKoeppel, Florence; Muller, Etienne; Harle, Alexandre; Guien, Celine; Sujobert, Pierre; Grati, Olfa Trabelsi; Kosmider, Olivier; Miguet, Laurent; Mauvieux, Laurent; Cayre, Anne; Salgado, David; Preudhomme, Claude; Karayan-Tapon, Lucie; Tachon, Gaelle; Coulet, Florence; Lespagnol, Alexandra; Beroud, Christophe; Leroy, Karen; Rouleau, Etienne; Soubeyran, Isabelle 分享 收藏 The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMDGargaun, Elena; Falcone, Sestina; Sole, Guilhem; Durigneux, Julien; Urtizberea, Andoni; Cuisset, Jean Marie; Benkhelifa-Ziyyat, Sofia; Julien, Laura; Boland, Anne; Sandron, Florian; Meyer, Vincent; Deleuze, Jean Francois; Salgado, David; Desvignes, Jean-Pierre; Beroud, Christophe; Chessel, Anatole; Blesius, Alexia; Krahn, Martin; Levy, Nicolas; Leturcq, France; Pietri-Rouxel, France 分享 收藏 Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiationStefanovic, Sonia; Laforest, Brigitte; Desvignes, Jean-Pierre; Lescroart, Fabienne; Argiro, Laurent; Maurel-Zaffran, Corinne; Salgado, David; Plaindoux, Elise; De Bono, Christopher; Pazur, Kristijan; Theveniau-Ruissy, Magali; Beroud, Christophe; Puceat, Michel; Gavalas, Anthony; Kelly, Robert G.; Zaffran, Stephane 分享 收藏 Leveraging European infrastructures to access 1 million human genomes by 2022 (vol 20, pg 693, 2019)Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Beroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Soren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut, Ivo; Heringa, Jaap; Holub, Petr; Hooyberghs, Jef; Juty, Nick; Keane, Thomas M.; Korbel, Jan O.; Lappalainen, Ilkka; Leskosek, Brane; Matthijs, Gert; Mayrhofer, Michaela Th.; Metspalu, Andres; Navarro, Arcadi; Newhouse, Steven; Nyronen, Tommi; Page, Angela; Persson, Bengt; Palotie, Aarno; Parkinson, Helen; Rambla, Jordi; Salgado, David; Steinfelder, Erik; Swertz, Morris A.; Valencia, Alfonso; Varma, Susheel; Blomberg, Niklas; Scollen, Serena 分享 收藏 Leveraging European infrastructures to access 1 million human genomes by 2022Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Beroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Soren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut, Ivo; Heringa, Jaap; Holub, Petr; Hooyberghs, Jef; Juty, Nick; Keane, Thomas M.; Korbel, Jan O.; Lappalainen, Ilkka; Leskosek, Brane; Matthijs, Gert; Mayrhofer, Michaela Th.; Metspalu, Andres; Navarro, Arcadi; Newhouse, Steven; Nyronen, Tommi; Page, Angela; Persson, Bengt; Palotie, Aarno; Parkinson, Helen; Rambla, Jordi; Salgado, David; Steinfelder, Erik; Swertz, Morris A.; Valencia, Alfonso; Varma, Susheel; Blomberg, Niklas; Scollen, Serena 分享 收藏 Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy Experience of a Multicentric Study of 200 French PatientsNguyen, Karine; Roche, Stephane; Donal, Erwan; Odent, Sylvie; Eicher, Jean-Christophe; Faivre, Laurence; Millat, Gilles; Salgado, David; Desvignes, Jean-Pierre; Lavoute, Cecile; Haentjens, Julie; Consolino, Emilie; Janin, Alexandre; Cerino, Mathieu; Reant, Patricia; Rooryck, Caroline; Charron, Philippe; Richard, Pascale; Casalta, Anne-Claire; Michel, Nicolas; Magdinier, Frederique; Beroud, Christophe; Levy, Nicolas; Habib, Gilbert 分享 收藏 Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants对acmg-amp框架进行调整以解释MEN1错义变体的提议Romanet, Pauline; Odou, Marie-Francoise; North, Marie-Odile; Saveanu, Alexandru; Coppin, Lucie; Pasmant, Eric; Mohamed, Amira; Goudet, Pierre; Borson-Chazot, Francoise; Calender, Alain; Beroud, Christophe; Levy, Nicolas; Giraud, Sophie; Barlier, Anne 分享 收藏 The French National Registry of patients with Facioscapulohumeral muscular dystrophy法国全国面肩肱型肌营养不良症患者登记处Guien, Celine; Blandin, Gaelle; Lahaut, Pauline; Sanson, Benoit; Nehal, Katia; Rabarimeriarijaona, Sitraka; Bernard, Rafaelle; Levy, Nicolas; Sacconi, Sabrina; Beroud, Christophe 分享 收藏 UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French PopulationRomanet, Pauline; Mohamed, Amira; Giraud, Sophie; Odou, Marie-Francoise; North, Marie-Odile; Pertuit, Morgane; Pasmant, Eric; Coppin, Lucie; Guien, Celine; Calender, Alain; Borson-Chazot, Francoise; Beroud, Christophe; Goudet, Pierre; Barlier, Anne 分享 收藏 Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in MenAuguste, Yasmina; Delague, Valerie; Desvignes, Jean-Pierre; Longepied, Guy; Gnisci, Audrey; Besnier, Pierre; Levy, Nicolas; Beroud, Christophe; Megarbane, Andre; Metzler-Guillemain, Catherine; Mitchell, Michael J. 分享 收藏 Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia深部脑刺激对伴有严重运动功能亢进的小儿患者有效Koy, Anne; Cirak, Sebahattin; Gonzalez, Victoria; Becker, Kerstin; Roujeau, Thomas; Milesi, Christophe; Baleine, Julien; Cambonie, Gilles; Boularan, Alain; Greco, Frederic; Perrigault, Pierre-Francois; Cances, Claude; Dorison, Nathalie; Doummar, Diane; Roubertie, Agathe; Beroud, Christophe; Koerber, Friederike; Stueve, Burkhard; Waltz, Stephan; Mignot, Cyril; Nava, Caroline; Maarouf, Mohammad; Coubes, Philippe; Cif, Laura 分享 收藏 
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