المؤلفون: Paulet, Alix^{Aff1, IDs41431024015608_cor1}, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna^{Aff7, Aff8}, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske^{Aff19, Aff20, Aff21, Aff22}, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie^{Aff27, Aff28}, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke^{Aff19, Aff20, Aff21}, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam^{Aff34, Aff35}, Zweier, Christiane^{Aff36, Aff37}, Smol, Thomas, Willems, Marjolaine^{Aff39, Aff40}, Faivre, Laurence^{Aff41, Aff42}, Scala, Marcello^{Aff43, Aff44}, Striano, Pasquale^{Aff43, Aff44}, Bagnasco, Irene, Koboldt, Daniel^{Aff34, Aff34}, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: European Journal of Human Genetics. 32(9):1144-1149

المؤلفون: Faye, Fatoumata, Crocione, Claudia, Anido de Peña, Roberta, Bellagambi, Simona, Escati Peñaloza, Luciana, Hunter, Amy, Jensen, Lene, Oosterwijk, Cor, Schoeters, Eva, de Vicente, Daniel, Faivre, Laurence, Wilbur, Michael, Le Cam, Yann, Dubief, Jessie^{Aff1, IDs4143102401604z_cor14}

المصدر: European Journal of Human Genetics. 32(9):1116-1126

المؤلفون: Viora-Dupont, Eléonore^{Aff1, Aff2, IDs41431024016169_cor1}, Robert, Françoise^{Aff3, Aff4}, Chassagne, Aline^{Aff1, Aff5}, Pélissier, Aurore^{Aff1, Aff6}, Staraci, Stéphanie, Sanlaville, Damien^{Aff3, Aff8}, Edery, Patrick^{Aff3, Aff9}, Lesca, Gaetan^{Aff3, Aff8}, Putoux, Audrey^{Aff3, Aff9}, Pons, Linda, Cadenes, Amandine, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Spetchian, Myrtille, Yousfi, Meriem, Salvi, Dominique, Gautier, Elodie, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Faudet, Anne, Keren, Boris, Labalme, Audrey, Chatron, Nicolas^{Aff3, Aff8}, Abel, Carine, Dupuis-Girod, Sophie, Poisson, Alice^{Aff11, Aff12}, Buratti, Julien, Mignot, Cyril, Afenjar, Alexandra, Whalen, Sandra, Charles, Perrine, Heide, Solveig, Mouthon, Linda, Moutton, Sébastien, Sorlin, Arthur, Nambot, Sophie, Briffaut, Anne-Sophie^{Aff1, Aff13}, Asensio, Marie-Laure, Philippe, Christophe, Thauvin-Robinet, Christel^{Aff1, Aff14}, Héron, Delphine, Rossi, Massimiliano^{Aff3, Aff9}, Meunier-Bellard, Nicolas^{Aff1, Aff13}, Gargiulo, Marcela^{Aff4, Aff15}, Peyron, Christine^{Aff1, Aff6}, Binquet, Christine^{Aff1, Aff13}, Faivre, Laurence^{Aff1, Aff2, IDs41431024016169_cor50}

المصدر: European Journal of Human Genetics. 32(9):1166-1183

المؤلفون: Hamamie-Chaar, Angélique, Renaud, Mathilde^{Aff2, Aff3}, Gençpinar, Pinar, Bruel, Ange-Line, Philippe, Christophe, Maraval, Julien, Racine, Caroline, Hadouiri, Nawale^{Aff1, Aff5}, Lambert, Laetitia^{Aff2, Aff3}, Schmitt, Emmanuelle, Banneau, Guillaume^{Aff6, Aff7}, Hocquel, Armand, Thauvin-Robinet, Christel^{Aff1, Aff5}, Faivre, Laurence^{Aff1, Aff5}, Thomas, Quentin^{Aff1, Aff5, IDs00415024125650_cor15}

المصدر: Journal of Neurology. 271(9):6343-6348

المؤلفون: Vos, Niels^{Aff1, Aff2}, Haghshenas, Sadegheh, van der Laan, Liselot^{Aff1, Aff2}, Russel, Perle K. M.^{Aff1, Aff2}, Rooney, Kathleen^{Aff3, Aff4}, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley^{Aff3, Aff4}, Maas, Saskia M.^{Aff1, Aff2}, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W.^{Aff1, Aff2}, van Hagen, Johanna M.^{Aff1, Aff2}, Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis^{Aff1, Aff2}, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio^{Aff9, Aff10}, Thauvin-Robinet, Christel^{Aff9, Aff10, Aff11}, Faivre, Laurence^{Aff9, Aff12}, Nambot, Sophie^{Aff9, Aff10, Aff12}, Garde, Aurore^{Aff9, Aff11}, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe^{Aff20, Aff21}, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin^{Aff24, Aff25}, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo^{Aff29, Aff30}, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro^{Aff34, Aff35}, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J.^{Aff37, Aff38}, Jansen, Sandra^{Aff1, Aff2}, Donker-Kaat, Laura, Duijkers, Floor A. M.^{Aff1, Aff2}, Stuurman, Kyra E., Mannens, Marcel M. A. M.^{Aff1, Aff2}, Alders, Mariëlle^{Aff1, Aff2}, Henneman, Peter^{Aff1, Aff2}, White, Susan M.^{Aff39, Aff40}, Sadikovic, Bekim^{Aff3, Aff4, IDs0043902402679w_cor59}, van Haelst, Mieke M.^{Aff1, Aff2, Aff41, Aff42, IDs0043902402679w_cor60}

المصدر: Human Genetics. 143(6):761-773

المؤلفون: Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael^{Aff4, Aff5, Aff6}, Brunet, Theresa^{Aff4, Aff5}, Faivre, Laurence^{Aff7, Aff8}, Sorlin, Arthur^{Aff8, Aff9}, Vitobello, Antonio^{Aff8, Aff9}, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan^{Aff13, Aff14, Aff15}, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E.^{Aff17, Aff18, Aff19}, Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol^{Aff27, Aff28, Aff29}, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika^{Aff23, Aff34}, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, Kreienkamp, Hans-Jürgen^{Aff1, IDs4146702452095x_cor58}

المصدر: Nature Communications. 15(1)

المؤلفون: Husson, Thomas^{Aff1, Aff2}, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline^{Aff12, Aff13}, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas^{Aff19, Aff20}, Cogné, Benjamin^{Aff21, Aff22}, Colin, Estelle, Cormier-Daire, Valérie^{Aff24, Aff25}, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian^{Aff28, Aff29}, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie^{Aff29, Aff31}, Depienne, Christel, Dieux, Anne, Dubourg, Christèle^{Aff33, Aff34}, Edery, Patrick^{Aff19, Aff35}, El Chehadeh, Salima^{Aff36, Aff37, Aff38}, Faivre, Laurence^{Aff28, Aff29}, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore^{Aff28, Aff29}, Geneviève, David^{Aff41, Aff42}, Gilbert-Dussardier, Brigitte, Goizet, Cyril^{Aff44, Aff45}, Goldenberg, Alice, Gouy, Evan^{Aff19, Aff46}, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand^{Aff21, Aff22}, Lacombe, Didier, Le Guillou Horn, Xavier^{Aff50, Aff51}, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas^{Aff57, Aff58}, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde^{Aff21, Aff22}, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence^{Aff15, Aff16}, Pingault, Veronique^{Aff61, Aff62}, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey^{Aff19, Aff35}, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia^{Aff5, Aff64, Aff65}, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano^{Aff19, Aff35}, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas^{Aff16, Aff66}, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran^{Aff29, Aff31}, Trimouille, Aurélien^{Aff69, Aff70}, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie^{Aff21, Aff22}, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille^{Aff72, IDs4143102301474x_cor98}

المصدر: European Journal of Human Genetics. 32(2):190-199

المؤلفون: Robert, Françoise, Chassagne, Aline, Pélissier, Aurore, Peyron, Christine, Béjean, Sophie, Cretin, Élodie, Gautier, Élodie, Salvi, Dominique, Kidri, Sarah, Godard, Aurélie, Thauvin-Robinet, Christel, Masurel, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Thevenon, Julien, Lesca, Gaëtan, Putoux, Audrey, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Till, Marianne, Duffourd, Yannis, Rivière, Jean-Baptiste, Joly, Lorraine, Juif, Christine, Putois, Olivier, Ancet, Pierre, Lapointe, Anne-Sophie, Morin, Paulette, Edery, Patrick, Rossi, Massimiliano, Sanlaville, Damien, Faivre, Laurence

المصدر: Maladies rares. 2023, p. 103-120.

الإتاحة: https://www.cairn.info/maladies-rares--9782749277707-page-103.htm

المؤلفون: Paulet, Alix^{Aff1, IDs4143102401606x_cor1}, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna^{Aff7, Aff8}, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske^{Aff19, Aff20, Aff21, Aff22}, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie^{Aff27, Aff28}, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke^{Aff19, Aff20, Aff21}, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam^{Aff34, Aff35}, Zweier, Christiane^{Aff36, Aff37}, Smol, Thomas, Willems, Marjolaine^{Aff39, Aff40}, Faivre, Laurence^{Aff41, Aff42}, Scala, Marcello^{Aff43, Aff44}, Striano, Pasquale^{Aff43, Aff44}, Bagnasco, Irene, Koboldt, Daniel^{Aff34, Aff34}, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: European Journal of Human Genetics. 32(9):1191-1191

المؤلفون: Schmetz, Ariane^{Aff1, IDs00439023026225_cor1}, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line^{Aff2, Aff3}, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas^{Aff6, Aff7}, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie^{Aff2, Aff3}, Edery, Patrick^{Aff6, Aff10}, Faivre, Laurence^{Aff2, Aff11}, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan^{Aff6, Aff7}, López-González, Vanesa, Maraval, Julien^{Aff2, Aff17}, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian^{Aff19, Aff20}, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe^{Aff2, Aff3, Aff22}, Posmyk, Renata, Putoux, Audrey^{Aff6, Aff10}, Reis, André^{Aff24, Aff25}, Sánchez-Soler, María José, Suh, Julia^{Aff15, Aff26}, Tkemaladze, Tinatin, Tran Mau Them, Frédéric^{Aff2, Aff3}, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia^{Aff24, Aff25}, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar^{Aff1, Aff30}

المصدر: Human Genetics. 143(1):71-84