Clinical and molecular characterization of patients with YWHAG‐related epilepsy von Cetica, V, Pisano, T, Lesca, G, Marafi, D, Licchetta, L, Riccardi, F, Mei, D, Chung, H.B, Bayat, A, Balasubramanian, M, Lowenstein, D.H, Endzinienė, M, Alotaibi, M, Villeneuve, N, Jacobs, J, Isidor, B, Solazzi, R, den Hollander, N.S, Marjanovic, D, Rougeot‐Jung, C, Jung, J, Lesieur‐Sebellin, M, Accogli, A, Salpietro, V, Saadi, N.W, Panagiotakaki, E, Foiadelli, T, Redon, S, Tsai, M, Bisulli, F, Hammer, T.B, Lupski, J.R, Parrini, E, Guerrini, R

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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly von Thomas, Q, Motta, M, Gautier, T, Zaki, MS, Ciolfi, A, Paccaud, J, Girodon, F, Boespflug-Tanguy, O, Besnard, T, Kerkhof, J, McConkey, H, Masson, A, Denommé-Pichon, AS, Cogné, B, Trochu, E, Vignard, V, El It, F, Rodan, LH, Alkhateeb, MA, Jamra, RA, Duplomb, L, Tisserant, E, Duffourd, Y, Bruel, AL, Jackson, A, Banka, S, McEntagart, M, Saggar, A, Gleeson, JG, Sievert, D, Bae, H, Lee, BH, Kwon, K, Seo, GH, Lee, H, Saeed, A, Anjum, N, Cheema, H, Alawbathani, S, Khan, I, Pinto-Basto, J, Teoh, J, Wong, J, Sahari, UBM, Houlden, H, Zhelcheska, K, Pannetier, M, Awad, MA, Lesieur-Sebellin, M, Barcia, G, Amiel, J, Delanne, J, Philippe, C, Faivre, L, Odent, S, Bertoli-Avella, A, Thauvin, C, Sadikovic, B, Reversade, B, Maroofian, R, Govin, J, Tartaglia, M, Vitobello, A

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features von Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange-Line, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana

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Association d’un marqueur surnuméraire et d’une isodisomie uniparentale paternelle du chromosome 6 chez un patient présentant un retard de développement syndromique von Lesieur-Sebellin, Marion, Marzin, Pauline, Arnoux, Jean-Baptiste, Maurin, Marie-Laure, Receveur, Aline, Cantagrel, Vincent, Rose, Sylvia, Dorval, Guillaume, Levy, Jonathan, Malan, Valérie

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