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

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

- Jansen, Sandra, Hoischen, Alexander, Van Bon, Bregje W., Claahsen-Van Der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Coe, Bradley P., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marlos, Stevens, Servi J.C., Stumpel, Connie T., Vansenne, Fleur, Carvill, Gemma L., Vinci, Mirella, Van De Vorst, Maartje, Vries, Petra D., Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E.L.M., Eichler, Evan E., Van Esch, Hilde, De Vries, Bert B.A., Bosch, Danielle G.M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A.