Not logged inPFMG2025-integrating genomic medicine into the national healthcare system in France
Blay, J. Y.; Duffourd, Y.; Nowak, F.; Thauvin-Robinet, C.; Thevenon, J.; Binquet, C.; Nicolas, G.; Boileau, C.; Bourgeron, T.; Bousquet, P. J.; Clappier, E.; Deleuze, J. F.; Laurent-Puig, P.; Lethimonnier, F.; Lyonnet, S.; Odent, S.; Saintigny, P.; Sigaux, F.; Stoppa-Lyonnet, D.; Sujobert, P.; Vidaud, M.; Vinauger, L.; Vinciguerra, C. .png)
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SaveDroplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions Confirmation of the Predominant Maternal Origin of Type-1 DeletionsPacot, Laurence; Ye, Manuela; Nectoux, Juliette; Laurendeau, Ingrid; Briand-Suleau, Audrey; Coustier, Audrey; Maillard, Theodora; Barbance, Cecile; Orhant, Lucie; Vaucouleur, Nicolas; Blanche, Helene; Parfait, Beatrice; Wolkenstein, Pierre; Vidaud, Michel; Vidaud, Dominique; Pasmant, Eric Share Save Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023)Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andres Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T.; Bustos, Ingrid G.; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaibi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E.; Delmonte, Ottavia M.; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K.; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarstroem, Lennart; Hatipoglu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christele; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarstroem, Qiang; de Diego, Rebeca Perez; Planas-Serra, Laura; Pleguezuelo, Daniel E.; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Riviere, Jacques G.; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlueter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M.; Baris-Feldman, Hagit; Butte, Manish J.; Constantinescu, Stefan N.; Cooper, Megan A.; Dalgard, Clifton L.; Fellay, Jacques; Heath, James R.; Lau, Yu-Lung; Lifton, Richard P.; Maniatis, Tom; Mogensen, Trine H.; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-Francois; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D.; Boisson-Dupuis, Stephanie; Su, Helen C.; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurelie Share Save Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1Pacot, Laurence; Sabbagh, Audrey; Sohier, Pierre; Hadjadj, Djihad; Ye, Manuela; Boland-Auge, Anne; Bacq-Daian, Delphine; Laurendeau, Ingrid; Briand-Suleau, Audrey; Deleuze, Jean-Francois; Margueron, Raphael; Vidaud, Michel; Ferkal, Salah; Parfait, Beatrice; Vidaud, Dominique; Pasmant, Eric; Wolkenstein, Pierre Share Save Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Abou Tayoun, Ahmad; Aiuti, Alessandro; Alavi Darazam, Ilad; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andres Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T.; Bustos, Ingrid G.; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaibi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E.; Delmonte, Ottavia M.; El Zein, Loubna; Flores, Carlos; Gregersen, Peter K.; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarstroem, Lennart; Hatipoglu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christele; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Metin Akcan, Ozge; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarstroem, Qiang; de Diego, Rebeca Perez; Planas-Serra, Laura; Pleguezuelo, Daniel E.; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Riviere, Jacques G.; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlueter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M.; Baris-Feldman, Hagit; Butte, Manish J.; Constantinescu, Stefan N.; Cooper, Megan A.; Dalgard, Clifton L.; Fellay, Jacques; Heath, James R.; Lau, Yu-Lung; Lifton, Richard P.; Maniatis, Tom; Mogensen, Trine H.; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-Francois; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Effort, C. O. V. I. D. Human Genetic; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D.; Boisson-Dupuis, Stephanie; Su, Helen C.; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurelie Share Save National Multidisciplinary Tumor Board improves diagnostic stratification and therapeutic management in Cancers of Unknown Primary: the French ExperienceJacquin, Nicolas; Kamal, Maud; Bieche, Ivan; Dupain, Celia; Guillou, Isabelle; Larbi-Cherif, Linda; Rouleau, Etienne; Planchon, Julien Masliah; Soubeyran, Isabelle; de la Fouchardiere, Christelle; Tlemsani, Camille; Blons, Helene; Escande, Fabienne; Vidaud, Michel; Wong, Jennifer; Saintigny, Pierre; Boyault, Sandrine; Buisson, Adrien; Allory, Yves; Vincent-Salomon, Anne; Cockenpot, Vincent; Selves, Janick; Le Tourneau, Christophe Share Save Share Save Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis typePacot, Laurence; Pelletier, Valerie; Chansavang, Albain; Briand-Suleau, Audrey; des Roziers, Cyril Burin; Coustier, Audrey; Maillard, Theodora; Vaucouleur, Nicolas; Orhant, Lucie; Barbance, Cecile; Lermine, Alban; Hamzaoui, Nadim; Hadjadj, Djihad; Laurendeau, Ingrid; El Khattabi, Laila; Nectoux, Juliette; Vidaud, Michel; Parfait, Beatrice; Dollfus, Helene; Pasmant, Eric; Vidaud, Dominique Share Save A Humanized Mouse Strain That Develops Spontaneously Immune-Mediated DiabetesLuce, Sandrine; Guinoiseau, Sophie; Gadault, Alexis; Letourneur, Franck; Nitschke, Patrick; Bras, Marc; Vidaud, Michel; Charneau, Pierre; Larger, Etienne; Colli, Maikel L.; Eizirik, Decio L.; Lemonnier, Francois; Boitard, Christian Share Save Accuracy of saliva and nasopharyngeal sampling for detection of SARS-CoV-2 in community screening: a multicentric cohort studyKerneis, Solen; Elie, Caroline; Fourgeaud, Jacques; Choupeaux, Laure; Delarue, Severine Mercier; Alby, Marie-Laure; Quentin, Pierre; Pavie, Juliette; Brazille, Patricia; Nere, Marie Laure; Minier, Marine; Gabassi, Audrey; Gibaud, Aurelien; Gauthier, Sebastien; Leroy, Chrystel; Voirin-Mathieu, Etienne; Poyart, Claire; Vidaud, Michel; Parfait, Beatrice; Delaugerre, Constance; Treluyer, Jean-Marc; LeGoff, Jerome Share Save NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentationLobon-Iglesias, Maria Jesus; Laurendeau, Ingrid; Guerrini-Rousseau, Lea; Tauziede-Espariat, Arnault; Briand-Suleau, Audrey; Varlet, Pascale; Vidaud, Dominique; Vidaud, Michel; Brugieres, Laurence; Grill, Jacques; Pasmant, Eric Share Save EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancerWassef, Michel; Luscan, Armelle; Aflaki, Setareh; Zielinski, Dina; Jansen, Pascal W. T. C.; Baymaz, H. Irem; Battistella, Aude; Kersouani, Carole; Servant, Nicolas; Wallace, Margaret R.; Romero, Pierre; Kosmider, Olivier; Just, Pierre-Alexandre; Hivelin, Mikael; Jacques, Sebastien; Vincent-Salomon, Anne; Vermeulen, Michiel; Vidaud, Michel; Pasmant, Eric; Margueron, Raphael Share Save Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic optionsTlemsani, Camille; Leroy, Karen; Gimenez-Roqueplo, Anne-Paule; Mansuet-Lupo, Audrey; Pasmant, Eric; Larousserie, Frederique; Boudou-Rouquette, Pascaline; Vidaud, Michel; Cadranel, Jacques; Blons, Helene; Goldwasser, Francois; Laurent-Puig, Pierre Share Save Humanized Mouse Model to Study Type 1 DiabetesLuce, Sandrine; Guinoiseau, Sophie; Gadault, Alexis; Letourneur, Franck; Blondeau, Bertrand; Nitschke, Patrick; Pasmant, Eric; Vidaud, Michel; Lemonnier, Francois; Boitard, Christian Share Save Characterization of molecular and functional consequences of somatic NF1 mutations in non-small cell lung cancersTlemsani, Camille; Pecuchet, Nicolas; Gruber, Aurelia; Mansuet-Lupo, Audrey; Damotte, Diane; Alifano, Marco; Varin, Jennifer; Laurendeau, Ingrid; Luscan, Armelle; Rousseau, Benoit; Parfait, Beatrice; Bieche, Ivan; Briand, Audrey; Terris, Benoit; Blons, Helene; Leroy, Karen; Vidaud, Dominique; Vidaud, Michel; Laurent-Puig, Pierre; Pasmant, Eric Share Save Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCRGruber, Aurelia; Pacault, Mathilde; El Khattabi, Laila Allach; Vaucouleur, Nicolas; Orhant, Lucie; Bienvenu, Thierry; Girodon, Emmanuelle; Vidaud, Dominique; Leturcq, France; Costa, Catherine; Letourneur, Franck; Anselem, Olivia; Tsatsaris, Vassilis; Goffinet, Francois; Viot, Geraldine; Vidaud, Michel; Nectoux, Juliette Share Save Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosisLouvrier, Camille; Pasmant, Eric; Briand-Suleau, Audrey; Cohen, Joelle; Nitschke, Patrick; Nectoux, Juliette; Orhant, Lucie; Zordan, Cecile; Goizet, Cyril; Goutagny, Stephane; Lallemand, Dominique; Vidaud, Michel; Vidaud, Dominique; Kalamarides, Michel; Parfait, Beatrice Share Save Share Save The TF-603A/G gene promoter polymorphism and circulating monocyte tissue factor gene expression in healthy volunteersReny, JL; Laurendeau, I; Fontana, P; Bièche, I; Dupont, A; Remones, V; Emmerich, J; Vidaud, M; Aiach, M; Gaussem, P Share Save Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?Garinet, Simon; Neou, Mario; de La Villeon, Bruno; Faillot, Simon; Sakat, Julien; Da Fonseca, Juliana P.; Jouinot, Anne; Le Tourneau, Christophe; Kamal, Maud; Luscap-Rondof, Windy; Boeva, Valentina; Gaujoux, Sebastien; Vidaud, Michel; Pasmant, Eric; Letourneur, Franck; Bertherat, Jerome; Assie, Guillaume Share Save 
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