Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

- Peluso, Francesca, Caraffi, Stefano G., Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T., Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Contrò, Gianluca, Dyment, David A., Farholt, Stense, Ferreira, Carlos R., Wolfe, Lynne A., Gahl, William A., Gnazzo, Maria, Goel, Himanshu, Gronborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Valeri, Lara, Kleefstra, Tjitske, Koolen, David A., Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F., Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Napoli, Manuela, Novelli, Antonio, Ockeloen, Charlotte W., Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P., Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T., Carboni, Giorgia, Goel, Amy, Taylor, Juliet M., Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Seth, Alka, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

- van der Sluijs, Pleuntje J., Jansen, Sandra, Bijlsma, Emilia K., Eichler, E, Pfundt, R, de Vries, BBA, Clayton-Smith, J, Santen, GWE, Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, Vergano, Samantha A., De Rademaeker, Marjan, Destree, A, Dudding-Byth, Tracy, Earl, R, Elcioglu, N, Elias, ER, Fagerberg, C, Gardham, A, Gener, B, Gerkes, EH, Adachi-Fukuda, Miho, Grasshoff, U, van Haeringen, A, Heitink, KR, Herkert, JC, den Hollander, NS, Horn, D, Hunt, D, Kant, SG, Kato, M, Kayserili, H, Alanay, Yasemin, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, LW, Lederer, D, Lees, M, Lopez-Gonzalez, V, Maas, S, Mancini, GMS, AlKindy, Adila, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, JB, Baban, Anwar, Netzer, C, Ockeloen, CW, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, SNM, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, SP, Bayat, Allan, Roifman, M, Rooryck, C, Ropers, FG, Rosello, M, Ruivenkamp, CAL, Sagiroglu, MS, Sallevelt, SCEH, Sanchis Calvo, A, Simsek-Kiper, PO, Soares, G, Beck-Woedl, Stefanie, Solaeche, L, Sonmez, FM, Splitt, M, Steenbeek, D, Stegmann, APA, Stumpel, CTRM, Tanabe, S, Uctepe, E, Utine, GE, Veenstra-Knol, HE, Berry, Katherine, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, AT, Wheeler, P, Wilson, GN, Wilson, LC, Wollnik, B, Kosho, T, Wieczorek, D