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

Source: In The Lancet Regional Health - Europe March 2025 50

R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line

Authors: Smaili, Wiam ^{a, 1}, Pezet, Camille ^{a, 2}, Marlin, Sandrine ^{a, b}, Ernest, Sylvain ^{a, ⁎}

Source: In Developmental Biology January 2025 517:301-316

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Authors: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe

Source: In Genetics in Medicine April 2023 25(4)

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Authors: Serey-Gaut, Margaux, Balogoun, Ralyath, Jonard, Laurence, Lina-Granade, Geneviève, Touraine, Renaud, Willems, Marjolaine, Hepp, Nicola, Rendtorff, Nanna Dahl, Bertelsen, Mette, Loundon, Natalie, Couloigner, Vincent, Lemiere, Isabelle, de Oliveira, Judite, Romana, Serge, Porteret, Camille, Blanc, Pierre, Mansard, Luke, Marlin, Sandrine, Roux, Anne-Françoise, Pingault, Véronique

Source: Human Genetics; Apr2025, Vol. 144 Issue 4, p433-441, 9p

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Authors: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

Source: HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000860; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Authors: Pennamen, Perrine, Tingaud-Sequeira, Angèle, Gazova, Iveta, Keighren, Margaret, McKie, Lisa, Marlin, Sandrine, Gherbi Halem, Souad, Kaplan, Josseline, Delevoye, Cédric, Lacombe, Didier, Plaisant, Claudio, Michaud, Vincent, Lasseaux, Eulalie, Javerzat, Sophie, Jackson, Ian, Arveiler, Benoit ^*

Source: In Genetics in Medicine March 2021 23(3):479-487

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation

Authors: Coez, Arnaud ^{a, b, d, e, ⁎}, Fillon, Ludovic ^a, Saitovitch, Ana ^a, Rutten, Caroline ^a, Marlin, Sandrine ^c, Boisgontier, Jennifer ^a, Vinçon-Leite, Alice ^a, Lemaitre, Hervé ^a, Grévent, David ^a, Roux, Charles-Joris ^a, Dangouloff-Ros, Volodia ^a, levy, Raphaël ^a, Bizaguet, Eric ^{b, d}, Rouillon, Isabelle ^b, Garabédian, Eréa Noël ^b, Denoyelle, Françoise ^{b, e}, Zilbovicius, Monica ^{a, f}, Loundon, Natalie ^{b, e}, Boddaert, Nathalie ^{a, f}

Source: In NeuroImage: Clinical 2021 29

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Authors: Duy, Phan Q, Jux, Bettina, Zhao, Shujuan, Mekbib, Kedous Y, Dennis, Evan, Dong, Weilai, Nelson-Williams, Carol, Mehta, Neel H, Shohfi, John P, Juusola, Jane, Allington, Garrett, Smith, Hannah, Marlin, Sandrine, Belhous, Kahina, Monteleone, Berrin, Schaefer, G Bradley, Pisarska, Margareta D, Vásquez, Jaime, Estrada-Veras, Juvianee I, Keren, Boris

Source: Brain: A Journal of Neurology; Dec2024, Vol. 147 Issue 12, p4292-4305, 14p

Subject Terms: NEURAL stem cells, HEREDITY, CORPUS callosum, BRAIN diseases, HUMAN embryos

HDR syndrome: Large cohort and systematic review.

Authors: Rive Le Gouard, Nicolas, Lafond‐Rive, Valentin, Jonard, Laurence, Loundon, Natalie, Achard, Sophie, Heidet, Laurence, Mosnier, Isabelle, Lyonnet, Stanislas, Brioude, Frederic, Serey Gaut, Margaux, Marlin, Sandrine

Source: Clinical Genetics; Nov2024, Vol. 106 Issue 5, p564-573, 10p

Subject Terms: VESICO-ureteral reflux, ZINC-finger proteins, BASAL ganglia, HEARING disorders, DYSPLASIA

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Authors: Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

Source: In European Journal of Medical Genetics November 2020 63(11)

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Authors: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

Source: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

Subject Terms: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000185; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c

Monoallelic loss-of-function variants in GSK3Blead to autism and developmental delay

Authors: Tan, Senwei, Zhang, Qiumeng, Zhan, Rui, Luo, Si, Han, Yaoling, Yu, Bin, Muss, Candace, Pingault, Veronique, Marlin, Sandrine, Delahaye, Andrée, Peters, Sophia, Perne, Claudia, Kreiß, Martina, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Racine, Caroline, Tran-Mau-Them, Frederic, Phornphutkul, Chanika, Besterman, Aaron D., Martinez, Julian, Wang, Xiuxia, Tian, Xiaoyu, Srivastava, Siddharth, Urion, David K., Madden, Jill A., Saif, Hind Al, Morrow, Michelle M., Begtrup, Amber, Li, Xing, Jurgensmeyer, Sarah, Leahy, Peter, Zhou, Shimin, Li, Faxiang, Hu, Zhengmao, Tan, Jieqiong, Xia, Kun, Guo, Hui

Source: Molecular Psychiatry; May 2025, Vol. 30 Issue: 5 p1952-1965, 14p

Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes.

Authors: Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie

Source: Prenatal Diagnosis; Sep2024, Vol. 44 Issue 10, p1150-1158, 9p

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Les surdités d’origine génétique

Alternate Title: Genetic hearing loss (English)

Authors: Tanaka-Ouyang, Lei, Marlin, Sandrine, Nevoux, Jérôme

Source: In La Presse Médicale November 2017 46(11):1089-1096

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism

Authors: Kadlub, Natacha, Sessiecq, Quentin, Dainese, Linda, Joly, Aline, Lehalle, Daphne, Marlin, Sandrine, Badoual, Cecile, Galmiche, Louise, Majoufre-Lefebvre, Claire, Berdal, Ariane, Deckert, Marcel, Vazquez, Marie-Paule, Descroix, Vianney, Coudert, Amélie E., Picard, Arnaud

Source: In Human Pathology December 2016 58:62-71

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Authors: Stritt, Simon ^*, Nurden, Paquita ^*, Turro, Ernest ^*, Greene, Daniel, Jansen, Sjoert B., Westbury, Sarah K., Petersen, Romina, Astle, William J., Marlin, Sandrine, Bariana, Tadbir K., Kostadima, Myrto, Lentaigne, Claire, Maiwald, Stephanie, Papadia, Sofia, Kelly, Anne M., Stephens, Jonathan C., Penkett, Christopher J., Ashford, Sofie, Tuna, Salih, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Favier, Rémi, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Mapeta, Rutendo, Perry, David J., Schulman, Sol, Simeoni, Ilenia, Thys, Chantal, Gomez, Keith, Erber, Wendy N., Stirrups, Kathleen, Rendon, Augusto, Bradley, John R., van Geet, Chris, Raymond, F.Lucy, Laffan, Michael A., Nurden, Alan T., Nieswandt, Bernhard, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H., Mumford, Andrew D.

Source: In Blood 9 June 2016 127(23):2903-2914

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7

Authors: Wells, Constance, Loundon, Natalie, Garabedian, Noël, Wiener-Vacher, Sylvette, Cordier-Bouvier, Marie-Dominique, Goudeffroye, Géraldine, Attié-Bitach, Tania, Marlin, Sandrine

Source: In European Journal of Medical Genetics April 2016 59(4):195-197

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Authors: Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne

Source: In Genetics in Medicine January 2016 18(1):49-56

RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.

Authors: Morel, Godelieve, Ernest, Sylvain, Serey‐Gaut, Margaux, Jonard, Laurence, Balogoun, Abeke Ralyath, Parodi, Marine, Loundon, Natalie, Achard, Sophie, Marlin, Sandrine

Source: Clinical Genetics; Dec2023, Vol. 104 Issue 6, p669-673, 5p

Subject Terms: ANIMAL models in research, LABORATORY mice, ANIMAL disease models, GENES, PATHOLOGY