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 journal › Article › peer-review

39 Scopus citations

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Biochemistry, Genetics and Molecular Biology