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

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Woedl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin DahanMarjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hulya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa Lopez-Gonzalez, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1295-1307
Number of pages13
JournalGenetics in Medicine
Volume21
Issue number6
DOIs
Publication statusPublished - Jun 2019

Keywords

  • ARID1B
  • Coffin-Siris syndrome
  • intellectual disability
  • bias
  • CHROMATIN-REMODELING COMPLEX
  • MUTATIONS
  • PHENOTYPE

Cite this

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., ... Santen, G. W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine, 21(6), 1295-1307. https://doi.org/10.1038/s41436-018-0330-z