PFMG2025–integrating genomic medicine into the national healthcare system in France

Authors: Abadie, Caroline, Abderrahmane, Aldja, Abdous, Ouarda, Abel, Carine, Ackermann, Oanez, Acquaviva, Cécile, Ader, Flavie, Adham, Salma, Adjaoud, Dalila, Afenjar, Alexandra, Aladjidi, Nathalie, Alary, Anne-Sophie, Albarel, Frédérique, Albert, Sabrina, Allard, Lise, Allix, Ingrid, Alunni, Violaine, Amado, Inês F., Amouroux, Cyril, André, Nicolas, Angelini, Chloé, Anheim, Mathieu, Sanfelliz, Ignacio Antolin, Aparicio, Thomas, Arfeuille, Chloé, Arlet, Jean-Benoît, Arnaud, Lionel, Arnaud, Pauline, Arnold, Guilhem, Attie-Bitach, Tania, Aubert-Mucca, Marion, Audo, Isabelle, Audrezet, Marie-Pierre, Auroux, Maxime, Auzanneau, Céline, Ayrignac, Xavier, Ba, Ibrahima, Bachelot, Anne, Bacq, Delphine, Bacrot, Séverine, Bader-Meunier, Brigitte, Baer, Sarah, Baert-Desurmont, Stéphanie, Bal-Theoleyre, Laurence, Balogoun, Ralyath, Baltzinger, Philippe, Banneau, Guillaume, Bar, Claire, Barbet, Audrey, Barcia, Giulia, Barjhoux, Laure, Barlier, Anne, Barlogis, Vincent, Barritault, Marc, Barth, Magalie, Barthod-Malat, Aurore, Baudouin-Cornu, Peggy, Baujat, Geneviève, Baurand, Amandine, Bay, Jacques-Olivier, Beau-Faller, Michèle, Beaudoin, Jean-Christophe, Bellance, Rémi, Bellanné-Chantelot, Christine, Bellera, Carine, Belot, Alexandre, Ben Abdeljelil, Raihane, Ben Sghaier, Rihab, Benadiba, Joy, Benard, Stéphanie, Beneteau, Claire, Benistan, Karelle, Benkerdou, Fouzia, Benkirane, Mehdi, Benoist, Jean-François, Benusiglio, Patrick R., Bergès, Camille, Bergougnoux, Anne, Bernadach, Maureen, Bernard, Emilien, Bernard, Valérie, Bernard, Virginie, Beroug, Dounia, Berrard, Aurélie, Bertherat, Jérôme, Berthet, Pascaline, Berthier, Clotilde, Bertholet-Thomas, Aurélia, Bertocchio, Jean-Philippe, Bertucci, François, Besse, Céline, Besse-Pinot, Elsa, Bessis, Didier, Beuvain, Pauline, Bezieau, Stéphane, Bidart, Marie, Bièche, Ivan, Biehler, Margaux, Bienvenu, Thierry, Bilan, Frédéric, Billon, Clarisse, Binquet, Christine, Bismuth, Elise, Bizaoui, Varoona, Blanc, Pierre, Blanché, Hélène, Blay, Jean-Yves, Bloch, Adrien, Bloch, Gilles, Bloch-Zupan, Agnes, Bocquet, Béatrice, Boedec, Morgane, Boileau, Catherine, Boissinot, Maureen, Boland, Anne, Bolze, Pierre-Adrien, Bonadona, Valérie, Bonastre, Julia, Bonello-Palot, Nathalie, Bonnard, Adeline-Alice, Borie, Raphaël, Botsen, Damien, Bouattour, Mohamed, Bouctot, Marion, Bouhours-Nouet, Natacha, Bouligand, Jérôme, Bouras, Ahmed, Bourgeron, Thomas, Bourges, Jean-Louis, Bourrat, Emmanuelle, Boursier, Guilaine, Bousquet, Guilhem, Bousquet, Philippe-Jean, Boussion, Simon, Boutaud, Lucile, Boutin, Julian, Bouvagnet, Patrice, Bouvattier, Claire, Boyault, Sandrine, Brac de la Perriere, Aude, Brahmi, Mehdi, Brard, Valentine, Brasseur, Mathilde, Brazzalotto, Nadège, Brémond-Gignac, Dominique, Briand-Suleau, Audrey, Briet, Claire, Bringuier, Pierre-Paul, Bris, Céline, Brischoux-Boucher, Elise, Brochard, Karine, Broly, Martin, Brosseau, Laura, Bruel, Ange-Line, Brunelle, Perrine, Bubien, Virginie, Buecher, Bruno, Buffet, Alexandre, Buisson, Adrien, Burglen, Lydie, Des Roziers, Cyril Burin, Burnichon, Nelly, Busa, Tiffany, Cabart, Mathilde, Cabet, Sara, Caille-Benigni, Charlotte, Caillot, Claire, Calvin, Christophe, Cambon-Thomsen, Anne, Cances, Claude, Cantan, Alexandre, Carausu, Liana, Carbasse, Aurélia, Carbonneil, Cédric, Cariou, Bertrand, Caron, Olivier, Carras, Sylvain, Cartalat, Stéphanie, Cassinari, Kévin, Castelle, Martin, Castéra, Laurent, Castinetti, Frédéric, Catteau, Julie, Caumes, Roseline, Caux, Aurélien, Cavaillé, Mathias, Cavé, Hélène, Caye-Eude, Aurélie, Cazeneuve, Cécile, Celse, Tristan, Celton, Noémie, Cenni, Camille, Cévost, Jasmin, Chaabna, Rania, Chabrol, Brigitte, Challet, Ilyas, Chalumeau, Clélia, Chambon, Pascal, Chansavang, Albain, Chanson, Jean-Baptiste, Chapelant, Sébastien, Charbit-Henrion, Fabienne, Charles, Perrine, Charrière, Sybil, Charron, Philippe, Chassaing, Nicolas, Chatron, Nicolas, Chaumette, Boris, Chaussain, Catherine, Chaussenot, Annabelle, Cheillan, David, Chenavier, Olivier, Chesneau, Bertrand, Chevalier, Louise-Marie, Chomienne, Christine, Chougnet, Cécile, Christin-Maitre, Sophie, Chuet, Marine, Clappier, Emmanuelle, Clet, Johanna, Cloteau, Mélanie, Cluzeau, Thomas, Cogan, Guillaume, Cogné, Benjamin, Cohen, Alicia, Cohen, Camille, Cohen-Haguenauer, Odile, Cohen-Solal, Martine, Colas, Chrystelle, Colin, Estelle, Collet, Corinne, Collin-Chavagnac, Delphine, Colliou, Eloïse, Collonge-Rame, Marie-Agnès, Colmard, Maxime, Coopman, Stéphanie, Coppin, Lucie, Coquan, Elodie, Cormier-Daire, Valérie, Corradini, Nadège, Corsini, Carole, Cossée, Mireille, Coste, Thibault, Cotteret, Sophie, Cottet, Rachel, Coubes, Christine, Coulet, Florence, Couque, Nathalie, Couratier, Philippe, Courbebaisse, Marie, Courbette, Olivier, Courdier, Cécile, Coursimault, Juliette, Courtin, Thomas, Courtois, Lucien, Coury, Fabienne, Coutos-Thévenot, Laure, Coutton, Charles, Creveaux, Isabelle, Crickx, Etienne, Crivelli, Louise, Cuggia, Marc, Cuisset, Laurence, Curcio, Hubert, Curie, Aurore, Cusin, Veronica, Da Costa, Noémie, Da Cruz, Lionel, Dahlen, Eric, Dardenne, Antoine, Dauriat, Benjamin, Dausse, Nell, De Becdelièvre, Alix, De Fraipont, Florence, De La Cruz, Elisa, De la Motte Rouge, Thibault, De Montgolfier, Sandrine, De Pauw, Antoine, De Reyniès, Aurélien, De Sainte Agathe, Jean-Madeleine, De Tayrac, Marie, Defachelles, Anne-Sophie, Degaud, Michaël, Deiller, Caroline, Delabesse, Eric, Delachaux, Leslie, Delahaye-Duriez, Andrée, Deleuze, Jean-François, Delhomelle, Hélène, Delmas, Christelle, Delnatte, Capucine, Delorme, Catherine, Delorme, Richard, Demeer, Bénédicte, Demilly, Caroline, Denizeau, Philippe, Denjoy, Isabelle, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Derive, Nicolas, Dervillé, Flora, Portes, Vincent Des, Desguerre, Isabelle, Desnous, Béatrice, Desseignes, Camille, Devillard, Françoise, Deville, Manjula, Dewulf-Pasz, Nelly, Dhaenens, Claire-Marie, Dietrich, Klaus, Dieux, Anne, Diop, Mody, Disse, Emmanuel, Djaber, Samir, Cao, Christine Do, Dollfus, Hélène, Domenach, Louis, Donadieu, Jean, Donadille, Bruno, Dougé, Aurore, Dreyfus, Hélène, Drunat, Séverine, Dubois-Laforgue, Danièle, Dubourg, Christele, Dubucs, Charlotte, Dubus, Jean-Christophe, Duchmann, Matthieu, Ducray, François, Ducrotverdun, Marion, Duffaud, Florence, Duffourd, Yannis, Dufour, William, Duhil de Bénazé, Gwénaelle, Dulac, Yves, Dunand, Olivier, Dunoyer de Segonzac, Denis, Dupain, Célia, Duployez, Nicolas, Dupré, Anaïs, Dupré, Aurélien, Dupuis-Girod, Sophie, Duquet, Romain, Durand, Alice, Durand, Benjamin, Durand-Zaleski, Isabelle, Durando, Xavier, Durr, Alexandra, Eberst, Lauriane, Edery, Patrick, Egloff, Matthieu, El Chehadeh, Salima, El Khattabi, Laïla, Engel, Camille, Entresangle, Mathilde, Espérou, Hélène, Esselin, Florence, Etancelin, Pascaline, Evrevin, Clémence, Ewenczyk, Claire, Eychene, Alain, Eychenne, Thomas, Ezaru, Andra, Fabry, Vincent, Faivre, Laurence, Faoucher, Marie, Faure, Clémentine, Fauré, Julien, Fauret-Amsellem, Anne-Laure, Feigerlova, Eva, Feillet, François, Fenwarth, Laurène, Férec, Claude, Fergelot, Patricia, Ferrari, Anthony, Ferraro-Peyret, Carole, Feugeas, Jean-Paul, Fieschi, Claire, Fievet, Alice, Fila, Marc, Fillatre, Rémi, Filser, Mathilde, Fin, Bertrand, Fiore, Mathieu, Firmin, Nelly, Flandrin-Gresta, Pascale, Flechon, Aude, Fournier, Benjamin, Fragny, Cécile, Francois-Heude, Marie-Céline, Francou, Bruno, Frébourg, Thierry, Fressart, Véronique, Frétigny, Mathilde, Funalot, Benoit, Fusaro, Mathieu, Gaignard, Pauline, Gandjbakhch, Estelle, Ganne, Benjamin, Garde, Aurore, Gatinois, Vincent, Gaucher, Céline, Gaudillat, Léa, Gaulard, Philippe, Gauthier, Lucas, Gay-Bellile, Mathilde, Geneste, Damien, Geneviève, David, Genin, Emmanuelle, Genoux, Sandrine, Geoerger, Birgit, Geoffroy, Véronique, Georget, Mathieu, Gérard, Bénédicte, Gertych, Witold, Halem, Souad Gherbi, Ghorab, Karima, Gille, Romane, Gillet, Charlène, Gillibert-Yvert, Marion, Gilly, Olivier, Gimenez-Roqueplo, Anne-Paule, Giraud, Sophie, Girerd, Barbara, Girodon, François, Glazunova, Olga, Gobert, Delphine, Goizet, Cyril, Gokce-Samar, Zeynep, Golmard, Lisa, Gomez-Roca, Carlos, Gonzales, Emmanuel, Gorce, Magali, Gorenstein, Marie-Clémence, Gorrichon, Kévin, Gottrand, Frédéric, Gouas, Laetitia, Gourdon, Stéphanie, Gourdy, Pierre, Gouronc, Aurélie, Goursaud, Claire, Gousse, Gaëlle, Gouy, Evan, Goze-Martineau, Odile, Gozlan, Diane, Grabli, David, Gras, Margaux, Grelet, Maude, Gressin, Laetitia, Grivel, Nathalie, Grotto, Sarah, Grouthier, Virginie, Grunenwald, Solange, Grunewald, Olivier, Gueguen, Paul, Guérin, Cécile, Guerrot, Anne-Marie, Guey, Stéphanie, Guffon, Nathalie, Guichet, Agnès, Guièze, Romain, Guillaud-Bataille, Marine, Guillemin, Francis, Guillerm, Erell, Guillermin, Yann, Guillet-Pichon, Virginie, Guillou, Isabelle, Guimbaud, Rosine, Guimier, Anne, Guissart, Claire, Guittet, Eric, Guy, Nathalie, Hadchouel, Alice, Abdallah, Hamza Hadj, Hadj-Rabia, Smail, Hadjadj, Samy, Hage-Sleiman, Mehdi, Haioun, Corinne, Halawi, Sara, Hamza, Abderaouf, Hanau, Perrine, Hanna, Nadine, Harbuz, Radu, Hardy, Gaëlle, Hauspie, Carine, Hayette, Sandrine, Heard, Jean-Michel, Heiblig, Maël, Heide, Solveig, Heidet, Laurence, Henry, Marcia, Hentgen, Véronique, Héron, Bénédicte, Héron, Delphine, Hervé, Dominique, Herzig, Anthony, Hirsch, Pierre, Hommais, Antoine, Honnorat, Jérôme, Horta, Edgar, Houdayer, Claude, Houillier, Pascal, Huet, Sarah, Hugot, Jean-Pierre, Huguenin, Yoann, Humbert, Marc, Humbert-Asensio, Marie-Laure, Huot, Laure, Ifrah, Norbert, Illouz, Frédéric, Imbard, Apolline, Imbert-Bouteille, Marion, Isambert, Nicolas, Isidor, Bertrand, Italiano, Antoine, Itzykson, Raphaël, Jaillard, Sylvie, Jamilloux, Yvan, Janin, Alexandre, Januel, Louis, Javelot-Jacquelin, Cécile, Jeanne, Médéric, Jedraszak, Guillaume, Jéru, Isabelle, Jeunemaitre, Xavier, Jeziorski, Eric, Jobic, Florence, Joly, Philippe, Jonard, Laurence, Jondeau, Guillaume, Jones, Natalie, Jouannic, Jean-Marie, Jouinot, Anne, Jouk, Pierre-Simon, Jourdy, Yohann, Jousselin, Kévin, Jouvenceau, Anne, Jubert, Charlotte, Julia, Sophie, Jurquet, Anne-laure, Juven, Aurélien, Kamal, Maud, Kantapareddy, Pascal, Kaphan, Elsa, Karayan-Tapon, Lucie, Kasper, Edwige, Kerbellec, Lara, Keren, Boris, Khalifa, Emmanuel, Van Kien, Philippe Khau, Kheddouci, Sihem, Kientz, Caroline, Kim, Rathana, Knapke, Antjie, Koenig, Michel, isabelle Kone, Konyukh, Marina, Kormann, Raphaël, Kossorotoff, Manoelle, Kuentz, Paul, Kyndt, Florence, L'Haridon, Anaïs, Labrune, Philippe, Lackmy, Marilyn, Lacombe, Didier, Lacroix, Ludovic, Laffargue, Fanny, Lahlou, Ghizlene, Laizet, Yec'han, Lambert, Laetitia, Lamoril, Jérôme, Lamouroux, Audrey, Landais, Emilie, Landman, Samuel, Landry, Elise, Lapillonne, Hélène, Lapointe, Anne-Sophie, Larcher, Lise, Lardeux, Pierre, Largeaud, Laetitia, Larger, Etienne, Larrouquere, Louis, Lasolle, Hélène, Lasseaux, Eulalie, Latypova, Xenia, Laurens, Tiphany, Laurent, Camille, Laurent-Puig, Pierre, Lautrette, Géraldine, Lauvray, Thomas, Lavallart, Benoît, Lavenu-Bombled, Cécile, Laverdure, Noémie, Le Bris, Yannick, Le Chalony, Catherine, Le Du, Nathalie, Le Folgoc, Gaëlle, Le Gac, Gerald, Le Gall, Jessica, Le Guillou, Edouard, Le Guillou, Xavier, Le Guyader, Gwenaël, Le Ray, Maryannick, Le Saux, Olivia, Le Tourneau, Christophe, Lebecque, Benjamin, Lebellec, Loïc, Lebigot, Elise, Leblond, Pierre, Leboulanger, Nicolas, Lebras, Laure, Lebre, Anne-Sophie, Lebreton, Louis, Lecoquierre, François, Lefebvre, Mathilde, Legendre, Marine, Leglise, Camille, Legrand, Clémentine, Lehalle, Daphné, Lejeune, Catherine, Lemaitre, Christine, Leman, Raphaël, Lepage, Mathis, Lermine, Alban, Leroy, Karen, Lesca, Gaëtan, Lesieur-Sebellin, Marion, Letexier, Mélanie, Lethimonnier, Franck, Levaillant, Lucie, Levy, Jonathan, Levy, Yves, Lévy, Pascale, Lhermitte, Ludovic, Linglart, Agnès, Lionnet, Clément, Livon, Doriane, Lode, Laurence, Lodin, Magalie, Lopez, Jonathan, Lopez, Maureen, Lortholary, Alain, Louha, Malek, Louvrier, Camille, Ludwig, Thomas E., Luvet, Auriane, Lyonnet, Stanislas, Makowski, Caroline, Malan, Valérie, Mallaret, Martial, Mallet, Delphine, Mallet, Stéphanie, Malphettes, Marion, Manaud, Nathalie, Mancini, Pierre, Manfredi, Sylvain, Manouvrier, Sylvie, Mansard, Luke, Mansard, Sandrine, Mansour-Hendili, Lamisse, Mansuy, Ludovic, Maquet, Julien, Marçais, Ambroise, Marceau-Renaut, Alice, Marec-Berard, Perrine, Marelli, Cécilia, Marenne, Gaëlle, Marey, Isabelle, Margier, Jennifer, Margot, Henri, Marie, Guillaume, Marin, Victor, Marisa, Laetitia, Marlin, Sandrine, Marquant, Emeline, Marquet, Valentine, Marsili, Luisa, Martin, Amaury, Martinerie, Laetitia, Maruani, Anna, Marzin, Pauline, Massard, Christophe, Masson, Emmanuelle, Mathieu, Flavie, Mathieu, Marion, Mathoulin-Pelissier, Simone, Matthieu, Flore, Mauras, Mathilde, Maureille, Aurélien, Mazel, Benoit, Mazeres, Mary, Leer, Anne Mc, Melki, Isabelle, Menassa, Rita, Méneret, Aurélie, Menjard, Julie, Mercier, Anne, Merieau, Elodie, Merlin, Marie-Sophie, Merlio, Jean-Philippe, Meslier, Cécile, Mesnard, Laurent, Mestre-Godin, Sandrine, Metay, Corinne, Meunier, Sandrine, Meyer, Pierre, Michaud, Vincent, Michel-Calemard, Laurence, Mignot, Cyril, Miguet, Marguerite, Millat, Gilles, Mirault, Tristan, Miron de l'Espinay, Albane, Molac, Clémence, Molin, Arnaud, Mondet, Julie, Monin, Faustine, Monin, Pauline, Monneur, Audrey, Monnot, Sophie, Montani, David, Morel, Elodie, Morel, Godelieve, Morel, Valérie, Moretta, Jessica, Morice-Picard, Fanny, Morillon, Lucie, Morin, Carole, Morin-Meschin, Marie-Emmanuelle, Morlat, Philippe, Moshous, Despina, Mouret-Fourme, Emmanuelle, Moussy, Alice, Moutton, Sébastien, Mouzat, Kévin, Muletier, Romane, Muller, Jean, Muller, Marie, Nadaj-Pakleza, Aleksandra, Nambot, Sophie, Nathan, Nadia, Nava, Caroline, Nectoux, Juliette, Netter, Jeanne, Neumann, Florent, Neveu, Julien, Nevière, Zoé, Nguyen, Laetitia, Niclass, Tanguy, Nicolas, Gaël, Nicolas, Laury, Ningarhari, Massih, Nogues, Catherine, Novello, Cécile, Nowak, Frédérique, Odent, Sylvie, Odou, Marie-Françoise, Olaso, Robert, Otmani, Sarah, Ovaert, Caroline, Pacot, Laurence, Pages, Mélanie, Paillard, Catherine, Palmyre, Aurélien, Panagiotakaki, Eleni, Pannard, Myriam, Paoletti, Anne, Papadopoulou, Maria T., Papathanasiou, Matthildi, Paquis, Véronique, Parfait, Béatrice, Paris, Camille, Paris, Clara, Paris, Françoise, Pasmant, Eric, Pasquet, Marlène, Passet, Marie, Pastoret, Cédric, Patat, Olivier, Patay, Léa, Paul, Antoine, Pebrel-Richard, Céline, Peduto, Cristina, Peffault de Latour, Regis, Pegat, Antoine, Pelletier, Annick, Pelletier, Valérie, Pellisson, Fanny, Pennamen, Perrine, Pereira, Victor, Pernin-Grandjean, Julie, Péron, Julien, Perrier, Alexandre, Perrier, Lionel, Perrin, Laurence, Perthus, Isabelle, Petit, Arnaud, Petit, Audrey, Petit, Florence, Petit, François, Petrov, Yuliya, Peyre, Hugo, Philippe, Christophe, Piard, Juliette, Pierre-Noël, Elise, Pierron, Gaëlle, Pimouguet, Clément, Pingault, Véronique, Pinson, Stéphane, Pion, Emmanuelle, Plaisancié, Julie, Planes, Marc, Planté-Bordeneuve, Pauline, Plas, William, Plutino, Morgane, Poignie, Ludivine, Poinsignon, Vianney, Poirée, Marilyne, Pons, Nicolas, Pontier, Bénédicte, Porquet-Bordes, Valérie, Porteret, Camille, Potier, Delphine, Potier, Louis, Pouessel, Damien, Poujade, Laura, Preau, Marie, Preudhomme, Claude, Prieur, Fabienne, Probst, Vincent, Procaccio, Vincent, Prot-Bertoye, Caroline, Prunier, Delphine, Puechberty, Jacques, Pujalte, Mathilde, Qebibo, Leila, Quemener-Redon, Sylvia, Quérée, Isabelle, Quijano-Roy, Susana, Quirin, Nicolas, Racine, Caroline, Raimbault, Sandra, Raimbourg, Judith, Rajaoba, Marine, Rambaud, Thomas, Ramirez, Carole, Ramond, Francis, Ranguin, Kara, Rausell, Antonio, Ravel, Jean-Marie, Ravelli, Claudia, Raverot, Gerald, Ray-Coquard, Isabelle, Raynal, Caroline, Réant, Patricia, Rebours, Vinciane, Redon, Richard, Réguerre, Yves, Reix, Philippe, Renard, Cécile, Renaud, Mathilde, Rendu, John, Renoux, Céline, Rey, Romain, Reynaud, Rachel, Rhinan, Lucie, Riant, Florence, Riccardi, Florence, Richard, Pascale, Ricou, Agathe, Rigalleau, Vincent, Rio, Marlène, Rivière, Axelle, Robelin, Patrick, Robert, Marion, Robert, Thomas, Rohmer, Barbara, Romanet, Pauline, Romoli, Arnaud, Rondeau, Sophie, Rooryck, Caroline, Roquelaure, Bertrand, Rosain, Jérémie, Rossi, Massimiliano, Rossignol, Sylvie, Rothenbuhler, Anya, Rouel, Nadège, Rouillon, Marine, Roux, Anne-Francoise, Roux-Buisson, Nathalie, Rouzier, Cécile, Roze, Emmanuel, Ruaud, Lyse, Ruault, Valentin, Ruysschaert, Claire, Saada, Esma, Saadi - Ait El Mkadem, Samira, Saandi, Thoueiba, Sabour, Niki, Sacconi, Sabrina, Saffroy, Raphaël, Safraou, Hana, Saillour, Virginie, Pierre, Aude Saint, Saint-Martin, Cécile, Saintigny, Pierre, Salaun, Gaëlle, Salgado, David, Salle, Laurence, Samuel, Didier, Sanlaville, Damien, Sapey-Triomphe, Laure, Sarnacki, Sabine, Sarrazin, Elisabeth, Sarret, Catherine, Satre, Véronique, Saugier-Veber, Pascale, Saultier, Paul, Saumet, Laure, Schaefer, Elise, Scheyer, Nicolas, Schiff, Isabelle, Schleiermacher, Gudrun, Schleinitz, Nicolas, Schluth-Bolard, Caroline, Schneider, Anouck, Schwartz, Bertrand, Sebaoun, Jean-Marc, Serey-Gaut, Margaux, Serrier, Hassan, Servais, Aude, Serveaux-Dancer, Marine, Sevenet, Nicolas, Seyve, Antoine, Sibony-Cohen, Alicia, Sicre de Fontbrune, Flore, Sigaudy, Sabine, Sigaux, François, Simaga, Fatoumata, Simmet, Victor, Simon, Pauline, Simon, Sophie, Sirveaux, François, Smol, Thomas, Solé, Guilhem, Soler, Gwendoline, Solignac, Pauline, Soriani, Marie-Hélène, Soubeyran, Isabelle, Soulier, Jean, Spelle, Laurent, Sperelakis-Beedham, Brian, Spinazzi, Marco, Spodenkiewicz, Marta, Spraul, Anne, Squiban, Barbara, Srikaran, Arunya, Steffann, Julie, Stetco, Anamaria, Stoeva, Radka, Stojkovic, Tanya, Stoppa-Lyonnet, Dominique, Suarez, Felipe, Sujobert, Pierre, Svahn, Juliette, Ta, Minh-Chau, Tabet, Anne-Claude, Tachon, Gaëlle, Tallegas, Matthias, Tallet, Anne, Tambourin, Pierre-Edmond, Tandonnet, Julie, Tardy, Véronique, Tavernier, Emmanuelle, Tchernitchko, Dimitri, Teillon-Berranger, Marie-Hélène, Tenenbaum, Julie, Teoli, Jordan, Tessarech, Marine, Tessoulin, Benoit, Tharreau, Mylène, Thauvin-Robinet, Christel, Theou-Anton, Nathalie, Thevenon, Julien, Thomas, Anne, Thomas, Laure, Thomas, Quentin, Thomas-Teinturier, Cécile, Tieulie, Nathalie, Tinat, Julie, Tlemsani, Camille, Tondeur, Sylvie, Tosca, Lucie, Tosi, Diego, Tougeron, David, Touraine, Phlippe, Tournier-Lasserve, Elisabeth, Toutain, Annick, Mau-Them, Frédéric Tran, Tranchant, Christine, Trédan, Olivier, Trimouille, Aurélien, Trochu, Jean-Noël, Tronel, Vincent, Trouba, Cécile, Truchetet, Marie-Elise, Truffaux, Nathalène, Tsalamlal, Amel, Turlotte, Edouard, Turon, Violette, Tusseau, Maud, Uhrhammer, Nancy, Vaché, Christel, Valence, Stéphanie, Valentin, Thibaud, Valero, René, Valleix, Sophie, Vallet, Marion, Vanacker, Hélène, Vande-Perre, Pierre, Vandenbrouck, Yves, Vanlerberghe, Clémence, Vargas-Poussou, Rosa, Vatier, Camille, Vauchel, Vincent, Vaur, Dominique, Velo-Suarez, Lourdes, Venat, Laurence, Vera, Gabriella, Verebi, Camille, Verley, Célia, Verlingue, Loïc, Verny, Christophe, Veronese, Lauren, Verotte, Nelly, Verret, Benjamin, Vial, Yoann, Vialard, Francois, Viari, Alain, Vidailhet, Marie, Vidaud, Dominique, Vidaud, Michel, Vignes, Stéphane, Vigouroux, Clothilde, Villard, Laurent, Villeneuve, Laurent, Villié, Patricia, Villy, Marie-Charlotte, Vinauger, Lara, Vinceneux, Armelle, Vincenot, Anne, Vinciguerra, Christine, Vitobello, Antonio, Vourc'h, Patrick, Vozy, Aurore, Vuillaume-Winter, Marie-Laure, Vuillaumier-Barrot, Sandrine, Wahbi, Karim, Wallet, Cédrick, Walter, Thomas, Walther-Louvier, Ulrike, Watson, Sarah, Waymel, Anne-Christine, Weinhard, Sara, Wicker, Camille, Willems, Marjolaine, Wourms, Justine, Wyrebski, Antoine, Yauy, Kévin, Zaidan, Mohamad, Zaloszyc, Ariane, Zattara, Hélène, Zawadzki, Christophe, Ziegler, Alban

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Source: In European Journal of Medical Genetics December 2022 65(12)

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

Authors: Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent

Source: In Genetics in Medicine September 2021 23(9):1769-1778

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation

Authors: Fragaki, Konstantina, Chaussenot, Annabelle, Boutron, Audrey, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique

Source: In Molecular Genetics and Metabolism July 2017 121(3):224-226

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Authors: Rouzier, Cécile¹ (AUTHOR) rouzier.c@chu-nice.fr, Pion, Emmanuelle² (AUTHOR), Chaussenot, Annabelle¹ (AUTHOR), Bris, Céline³ (AUTHOR), Ait‐El‐Mkadem Saadi, Samira¹ (AUTHOR), Desquiret‐Dumas, Valérie⁴ (AUTHOR), Gueguen, Naïg⁴ (AUTHOR), Fragaki, Konstantina¹ (AUTHOR), Amati‐Bonneau, Patrizia⁴ (AUTHOR), Barcia, Giulia⁵ (AUTHOR), Gaignard, Pauline⁶ (AUTHOR), Steffann, Julie⁵ (AUTHOR), Pennisi, Alessandra⁵ (AUTHOR), Bonnefont, Jean‐Paul⁵ (AUTHOR), Lebigot, Elise⁶ (AUTHOR), Bannwarth, Sylvie¹ (AUTHOR), Francou, Bruno¹ (AUTHOR), Rucheton, Benoit⁷ (AUTHOR), Sternberg, Damien⁸ (AUTHOR), Martin‐Negrier, Marie‐Laure⁹ (AUTHOR)

Source: Annals of Clinical & Translational Neurology. Jun2024, Vol. 11 Issue 6, p1478-1491. 14p.

Subject Terms: *MITOCHONDRIAL pathology, *WHOLE genome sequencing, *GENETIC testing, *NEUROMUSCULAR transmission, *GENETIC variation, *NEUROMUSCULAR diseases

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Interprétation des résultats issus du séquençage à haut débit pour les maladies génétiques: Mise en place d'une homogénéisation nationale en France. (French)

Alternate Title: Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France. (English)

Authors: Gorokhova, Svetlana, Rouzier, Cécile, Acquaviva-Bourdain, Cécile, Baert-Desurmont, Stéphanie, Caputo, Sandrine, Chatron, Nicolas, Coulet, Florence, Doco-Fenzy, Martine, Keren, Boris, Le Marechal, Cédric, Nicolas, Gaël, Procaccio, Vincent, Richard, Pascale, Romanet, Pauline, Snanoudj, Sarah, Muller, Jean, Krahn, Martin, Saugier-Veber, Pascale

Source: Médecine Sciences; oct2024, Vol. 40 Issue 10, p767-769, 3p

Comparison of the ABC and ACMG systems for variant classification

Authors: Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I., Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., Laner, Andreas

Source: European Journal of Human Genetics: EJHG; July 2024, Vol. 32 Issue: 7 p858-863, 6p

Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?

Authors: Bun, Sok-Sithikun ^{a, ⁎}, Squara, Fabien ^a, Scarlatti, Didier ^a, Leccia, Céline ^d, Kyndt, Florence ^e, Ferrari, Emile ^a, Rouzier, Cécile ^{b, c}

Source: In Forensic Science International: Genetics March 2025 76

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Authors: Serag, Mounir, Plutino, Morgane, Charles, Perrine, Azulay, Jean-Philippe, Chaussenot, Annabelle, Paquis-Flucklinger, Véronique, Ait-El-Mkadem Saadi, Samira, Rouzier, Cécile

Source: Genes; Dec2023, Vol. 14 Issue 12, p2154, 9p

Subject Terms: PAN-genome, COMPARATIVE genomic hybridization, MITOCHONDRIAL pathology, MITOCHONDRIA, CEREBELLAR ataxia, MITOCHONDRIAL DNA

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Authors: Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel

Source: EMBO Molecular Medicine; 8/7/2023, Vol. 15 Issue 8, p1-6, 6p

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Authors: Maamouri, Rym, Hizem, Syrine, Kammoun, Ines, Elaribi, Yasmina, Rejeb, Imen, Sebai, Molka, Jilani, Houweyda, Rouzier, Cécile, Cheour, Monia, Paquis-Flucklinger, Véronique, Ben Jemaa, Lamia

Source: Ophthalmic Genetics; Jun2023, Vol. 44 Issue 3, p304-312, 9p

Subject Terms: DIABETIC retinopathy, MEDICAL genetics, MEDICAL genomics, DIABETES insipidus, MISSENSE mutation, GENETIC counseling

Detection of the TMPRSS2- ETS fusion gene in prostate carcinomas: retrospective analysis of 55 formalin-fixed and paraffin-embedded samples with clinical data

Authors: Rouzier, Cécile, Haudebourg, Juliette, Carpentier, Xavier, Valério, Laure, Amiel, Jean, Michiels, Jean-François, Pedeutour, Florence

Source: In Cancer Genetics and Cytogenetics 2008 183(1):21-27

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Authors: Fragaki, Konstantina, Chaussenot, Annabelle, Serre, Valerie, Acquaviva, Cecile, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique

Source: In Molecular Genetics and Metabolism Reports December 2019 21

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Authors: Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

Source: In The American Journal of Human Genetics 5 January 2017 100(1):151-159

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Authors: Rouzier, Cécile¹, Chaussenot, Annabelle², Serre, Valérie³, Fragaki, Konstantina¹, Bannwarth, Sylvie¹, Ait-El-Mkadem, Samira¹, Attarian, Shahram⁴, Kaphan, Elsa⁴, Cano, Aline⁵, Delmont, Emilien⁶, Sacconi, Sabrina⁶, de Camaret, Bénédicte Mousson⁷, Rio, Marlène⁸, Lebre, Anne-Sophie⁸, Jardel, Claude⁹, Deschamps, Romain¹⁰, Richelme, Christian¹¹, Pouget, Jean⁴, Chabrol, Brigitte⁵, Paquis-Flucklinger, Véronique¹

Source: European Journal of Human Genetics. Apr2014, Vol. 22 Issue 4, p542-550. 9p.

Subject Terms: *MITOCHONDRIAL pathology, *POLYMERASE genetics, *GENETIC mutation, *NUCLEOTIDE sequence, *POLYMERASE chain reaction, *COHORT analysis, *GENETICS

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Authors: Zereg, Elamine, Chaussenot, Annabelle, Morel, Godelieve, Bannwarth, Sylvie, Sacconi, Sabrina, Soriani, Marie‐Hélène, Attarian, Shahram, Cano, Aline, Pouget, Jean, Bellance, Rémi, Tranchant, Christine, Lannes, Béatrice, Paula, André Maues, Saadi Ait‐El‐Mkadem, Samira, Chafino, Bernadette, Berthet, Mathieu, Fragaki, Konstantina, Paquis‐Flucklinger, Véronique, Rouzier, Cécile

Source: Human Mutation; Aug2020, Vol. 41 Issue 8, p1394-1406, 13p

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Authors: Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire

Source: Scientific Reports; 6/17/2020, Vol. 10 Issue 1, p1-10, 10p

Subject Terms: PRENATAL diagnosis, DNA, GENETIC mutation, MEDICAL screening, GENE amplification

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

Authors: Bergougnoux, Anne, Boureau-Wirth, Amandine, Rouzier, Cécile, Altieri, Jean-Pierre, Verneau, Fanny, Larrieu, Lise, Koenig, Michel, Claustres, Mireille, Raynal, Caroline

Source: In Journal of Cystic Fibrosis May 2016 15(3):309-312