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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

  • Sébastien Küry
  • , Thomas Besnard
  • , Frédéric Ebstein
  • , Tahir N. Khan
  • , Tomasz Gambin
  • , Jessica Douglas
  • , Carlos A. Bacino
  • , Stephan J. Sanders
  • , Andrea Lehmann
  • , Xénia Latypova
  • , Kamal Khan
  • , Mathilde Pacault
  • , Stephanie Sacharow
  • , Kimberly Glaser
  • , Eric Bieth
  • , Laurence Perrin-Sabourin
  • , Marie Line Jacquemont
  • , Megan T. Cho
  • , Elizabeth Roeder
  • , Anne Sophie Denommé-Pichon
    • Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice L. Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M. Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

Research output: Contribution to journal › Article › peer-review

85 Scopus citations

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Biochemistry, Genetics and Molecular Biology