Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: A next-generation sequencing study

  • Ghayda M. Mirzaa
  • , Valerio Conti
  • , Andrew E. Timms
  • , Christopher D. Smyser
  • , Sarah Ahmed
  • , Melissa Carter
  • , Sarah Barnett
  • , Robert B. Hufnagel
  • , Amy Goldstein
  • , Yoko Narumi-Kishimoto
  • , Carissa Olds
  • , Sarah Collins
  • , Kathreen Johnston
  • , Jean François Deleuze
  • , Patrick Nitschké
  • , Kathryn Friend
  • , Catharine Harris
  • , Allison Goetsch
  • , Beth Martin
  • , Evan August Boyle
  • Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

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72 Scopus citations

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Biochemistry, Genetics and Molecular Biology