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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

by Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Royer, Erin, Leeuwen, Lisette, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Dufke, Andreas, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., Kleefstra, Tjitske
Published in American journal of human genetics (01.06.2023)

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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

by Racine, Caroline, Denommé-Pichon, Anne-Sophie, Engel, Camille, Tran Mau-them, Frederic, Bruel, Ange-Line, Vitobello, Antonio, Safraou, Hana, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Garde, Aurore, Colin, Estelle, Moutton, Sébastien, Thevenon, Julien, Jean-Marçais, Nolwenn, Willems, Marjolaine, Geneviève, David, Pinson, Lucile, Perrin, Laurence, Laffargue, Fanny, Lacaze, Elodie, Molin, Arnaud, Gerard, Marion, Lambert, Laetitia, Benigni, Charlotte, Patat, Olivier, Bourgeois, Valentin, Poe, Charlotte, Chevarin, Martin, Couturier, Victor, Philippe, Christophe, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel, Verloes, Alain, Goldenberg, Alice, Masurel, Alice, Vincent, Aline, Frances-Guidet, Anne-Marie, Laudier, Béatrice, Demeer, Bénédicte, Funalot, Benoit, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Poirsier, Céline, Dubucs, Charlotte, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Bansept, Claire, Wells, Constance, Goizet, Cyril, Mignot, Cyril, Amram, Daniel, Amsallem, Daniel, Lacombe, Didier, Martin-Coignard, Dominique, Schaefer, Elise, Guiliano, Fabienne, Prieur, Fabienne, Petit, Florence, Riccardi, Florence, Meloni, Francesca, Feillet, François, Guyader, Gwenael Le, Journel, Hubert, Coupier, Isabelle, Maystadt, Isabelle, Alessandri, Jean-Luc, Ruaud, Lyse, Jacquemont, Marie-Line, Bonnet-Dupeyron, Marie Noëlle, Lebrun, Marine, Spodenkiewicz, Marta, Renaud, Mathilde, Grelet, Maude, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Pujol, Pascal, Blanchet, Patricia, Kien, Philippe Khau Van, Parent, Philippe, Vabres, Pierre, Touraine, Renaud, Caumes, Roseline, Sigaudy, Sabine, Whalen, Sandra, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Julia, Sophie, Bertrand, Thierry Lavabre, Busa, Tiffany, Layet, Valérie, Bizaoui, Varoona, Trujillo, Yaumara Perdomo, Capri, Yline
Published in Journal of medical genetics (01.01.2024)

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

by Benkirane, Mehdi, Marelli, Cecilia, Guissart, Claire, Roubertie, Agathe, Ollagnon, Elizabeth, Choumert, Ariane, Fluchère, Frédérique, Magne, Fabienne Ory, Halleb, Yosra, Renaud, Mathilde, Larrieu, Lise, Baux, David, Patat, Olivier, Bousquet, Idriss, Ravel, Jean-Marie, Cuntz-Shadfar, Danielle, Sarret, Catherine, Ayrignac, Xavier, Rolland, Anne, Morales, Raoul, Pointaux, Morgane, Lieutard-Haag, Cathy, Laurens, Brice, Tillikete, Caroline, Bernard, Emilien, Mallaret, Martial, Carra-Dallière, Clarisse, Tranchant, Christine, Meyer, Pierre, Damaj, Lena, Pasquier, Laurent, Acquaviva, Cecile, Chaussenot, Annabelle, Isidor, Bertrand, Nguyen, Karine, Camu, William, Eusebio, Alexandre, Carrière, Nicolas, Riquet, Audrey, Thouvenot, Eric, Gonzales, Victoria, Carme, Emilie, Attarian, Shahram, Odent, Sylvie, Castrioto, Anna, Ewenczyk, Claire, Charles, Perrine, Kremer, Laurent, Sissaoui, Samira, Bahi-buisson, Nadia, Kaphan, Elsa, Degardin, Adrian, Doray, Bérénice, Julia, Sophie, Remerand, Ganaëlle, Fraix, Valerie, Haidar, Lydia Abou, Lazaro, Leila, Laugel, Vincent, Villega, Frederic, Charlin, Cyril, Frismand, Solène, Moreira, Marinha Costa, Witjas, Tatiana, Francannet, Christine, Walther-Louvier, Ulrike, Fradin, Mélanie, Chabrol, Brigitte, Fluss, Joel, Bieth, Eric, Castelnovo, Giovanni, Vergnet, Sylvain, Meunier, Isabelle, Verloes, Alain, Brischoux-Boucher, Elise, Coubes, Christine, Geneviève, David, Lebouc, Nicolas, Azulay, Jean Phillipe, Anheim, Mathieu, Goizet, Cyril, Rivier, François, Labauge, Pierre, Calvas, Patrick, Koenig, Michel
Published in Genetics in medicine (01.11.2021)

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