De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Anne Slavotinek*, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P. A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas S. Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline DaltonKyriakie Sarafoglou, Peter I. Karachunski, Jane M. Lewis, Helio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph Shieh

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)4849-4860
Number of pages12
JournalHuman Molecular Genetics
Volume26
Issue number24
DOIs
Publication statusPublished - 15 Dec 2017

Keywords

  • GENETIC-VARIANTS
  • MUTATIONS
  • FRAMEWORK
  • DIFFERENTIATION
  • LOCALIZATION
  • HUMANS
  • PREP1
  • MOUSE
  • MICE

Cite this

Slavotinek, A., Risolino, M., Losa, M., Cho, M. T., Monaghan, K. G., Schneidman-Duhovny, D., Parisotto, S., Herkert, J. C., Stegmann, A. P. A., Miller, K., Shur, N., Chui, J., Muller, E., DeBrosse, S., Szot, J. O., Chapman, G., Pachter, N. S., Winlaw, D. S., Mendelsohn, B. A., ... Shieh, J. (2017). De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics, 26(24), 4849-4860. https://doi.org/10.1093/hmg/ddx363