Skip to main navigation Skip to search Skip to main content

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

  • Sara Reynhout
  • , Sandra Jansen
  • , Dorien Haesen
  • , Siska van Belle
  • , Sonja A. de Munnik
  • , Ernie M. H. F. Bongers
  • , Jolanda H. Schieving
  • , Carlo Marcelis
  • , Jeanne Amiel
  • , Marlène Rio
  • , Heather Mclaughlin
  • , Roger Ladda
  • , Susan Sell
  • , Marjolein Kriek
  • , Cacha M. P. C. D. Peeters-Scholte
  • , Paulien A. Terhal
  • , Koen L. van Gassen
  • , Nienke Verbeek
  • , Sonja Henry
  • , Jessica Scott Schwoerer
    • Saleem Malik, Nicole Revencu, Carlos R. Ferreira, Ellen Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura R. Z. Ruznikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B. A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E. L. M. Vissers
  • Laboratory of Protein Phosphorylation & Proteomics, 3000 Leuven, Belgium
  • Leuven Brain Institute, 3000 Leuven, Belgium
  • Department of Human Genetics, 6500 HB Nijmegen, Netherlands
  • Department of Neurology, 6500 HB Nijmegen, Netherlands
  • Laboratory of Embryology and Genetics of Human Malformations, 75015 Paris, France
  • Service de Génétique, 75015 Paris, France
  • GeneDx, 20877 Gaithersburg, United States
  • Penn State Hershey Children's Hospital, 17033 Hershey, United States
  • Department of Clinical Genetics, 2300 RC Leiden, Netherlands
  • Department of Neurology, 2300 RC Leiden, Netherlands
  • Department of Genetics, 3508 GA Utrecht, Netherlands
  • Biochemical Genetics Clinic, 53705 Madison, United States
  • Comprehensive Epilepsy Program, 76104 Fort Worth, United States
  • Centre de Génétique Humaine, Brussels, Belgium
  • Office of the Clinical Director, 20892 Bethesda, United States
  • NIH Undiagnosed Diseases Program, 20892 Bethesda, United States
  • Department of Neurology, 5591 VE Heeze, Netherlands
  • Department of Neurology and Neurological Sciences, 94305 Stanford, United States
  • Department of Pediatrics, 94305 Stanford, United States
  • Institute of Human Genetics, 85764 Munich, Germany
  • Institute of Human Genetics, 81675 Munich, Germany
  • Institute of Neurogenomics, 85764 Munich, Germany
  • Institute of Human Genetics, 40225 Düsseldorf, Germany
  • Institut für Humangenetik, 45147 Essen, Germany
  • Pediatric Neurology Unit, 52621 Ramat Gan, Israel
  • Genomic Unit, 52621 Tel Hashomer, Israel
  • Wohl Institute for Translational Medicine, 52621 Tel Hashomer, Israel

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

Fingerprint

Dive into the research topics of 'De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders'. Together they form a unique fingerprint.
Sort by

Biochemistry, Genetics and Molecular Biology

Keyphrases