De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

M. Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tugce Aktas, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G. Szymanski, Christian Gilissen, Olivier Vanakker, Katrin Ounap, Gerhard Mittler, Ineke Van Der Burgt, Salima El Chehadeh, Megan T. Cho, Rolph Pfundt, Tiong Yang Tan, Maria KirchhoffBjorn Menten, Sarah Vergult, Kristin Lindstrom, Andre Reis, Diana S. Johnson, Alan Fryer, Victoria McKay, Richard B. Fisher, Christel Thauvin-Robinet, David Francis, Tony Roscioli, Sander Pajusalu, Kelly Radtke, Jaya Ganesh, Han G. Brunner, Meredith Wilson, Laurence Faivre, Vera M. Kalscheuer, Julien Thevenon, Asifa Akhtar, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1442-1451
Number of pages10
JournalNature Genetics
Volume50
Issue number10
DOIs
Publication statusPublished - Oct 2018

Keywords

  • DOSAGE COMPENSATION COMPLEX
  • INTELLECTUAL DISABILITY
  • PROTEIN INTERACTIONS
  • CELL-CYCLE
  • MOF
  • DEACETYLASE
  • DROSOPHILA
  • CHROMOSOME
  • CHROMATIN
  • ACETYLTRANSFERASE

Cite this

Basilicata, M. F., Bruel, A-L., Semplicio, G., Valsecchi, C. I. K., Aktas, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Ounap, K., Mittler, G., Van Der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y., ... DDD Study (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50(10), 1442-1451. https://doi.org/10.1038/s41588-018-0220-y