The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Creator: 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
- Resource Type: journal article
- Date: 2019
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Creator: 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.
- Resource Type: journal article
- Date: 2018