YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Stromme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez-BuriticaLaura Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly M. Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjorg Stray-Pedersen, Pascal Chambon, Sophie Patrier, Sally A. Lynch, Susanne Kjaergaard, Pernille M. Torring, Charlotte Brasch-Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zoe Powis, Han G. Brunner, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, Bregje W. M. van Bon, Stefan Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E. L. M. Vissers, Jozef Gecz, David A. Koolen, Giuseppe Testa, Bert B. A. de Vries

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)907-925
Number of pages19
JournalAmerican Journal of Human Genetics
Volume100
Issue number6
DOIs
Publication statusPublished - 1 Jun 2017

Keywords

  • 17Q21.31 MICRODELETION SYNDROME
  • POTENTIAL FUNCTIONS
  • MENTAL-RETARDATION
  • DEMETHYLASE JMJD3
  • GENE-EXPRESSION
  • ADENOVIRUS E1A
  • LIQUID WATER
  • KANSL1 CAUSE
  • STEM-CELLS
  • MUTATIONS

Cite this

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., ... de Vries, B. B. A. (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6), 907-925. https://doi.org/10.1016/j.ajhg.2017.05.006