De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

  • Jean Baptiste Rivière
  • , Ghayda M. Mirzaa
  • , Brian J. O'Roak
  • , Margaret Beddaoui
  • , Diana Alcantara
  • , Robert L. Conway
  • , Judith St-Onge
  • , Jeremy A. Schwartzentruber
  • , Karen W. Gripp
  • , Sarah M. Nikkel
  • , Thea Worthylake
  • , Christopher T. Sullivan
  • , Thomas R. Ward
  • , Hailly E. Butler
  • , Nancy A. Kramer
  • , Beate Albrecht
  • , Christine M. Armour
  • , Linlea Armstrong
  • , Oana Caluseriu
  • , Cheryl Cytrynbaum
    • Beth A. Drolet, A. Micheil Innes, Julie L. Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gã Khan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O'Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

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

624 Scopus citations

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Biochemistry, Genetics and Molecular Biology