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 Dalton
    • Kyriakie 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 › Academic › peer-review

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Biochemistry, Genetics and Molecular Biology