An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Creator: Choufani, Sanaa , McNiven, Vanda , Aul, Ritu B. , Castiglioni, Claudia , Breckpot, Jeroen , Devriendt, Koen , Stewart, Helen , Banos-Pinero, Benito , Mehta, Sarju , Sandford, Richard , Dunn, Carolyn , Mathevet, Remi , Cytrynbaum, Cheryl , Dudding-Byth, Tracy , Piard, J , Brischoux-Boucher, E , Vitobello, A , Faivre, L , Bournez, M , Tran-Mau, F , Maystadt, I , Fernandez-Jaen, A , Alvarez, S , Jangjoo, Maryam , Garcia-Prieto, ID , Alkuraya, FS , Alsaif, HS , Rahbeeni, Z , El-Akouri, K , Al-Mureikhi, M , Spillmann, RC , Shashi, V , Sanchez-Lara, PA , Graham, JM , Adam, Margaret P. , Roberts, A , Chorin, O , Evrony, GD , Kraatari-Tiri, M , Dudding-Byth, T , Richardson, A , Hunt, D , Hamilton, L , Dyack, S , Mendelsohn, BA , Bjornsson, Hans T. , Rodriguez, N , Sanchez-Martinez, R , Tenorio-Castano, J , Nevado, J , Lapunzina, P , Tirado, P , Rodrigues, M-TCA , Quteineh, L , Innes, AM , Kline, AD , Harris, Jacqueline , Au, PYB , Weksberg, R , Dyment, David A. , Graham, Gail E. , Nezarati, Marjan M.
- Resource Type: journal article
- Date: 2022
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