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

Journal: American Journal of Human Genetics

Published: 2018-12-21

DOI: 10.1016/j.ajhg.2018.12.002

Affiliations: 29

Authors: 37

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Institutions FC
Donders Institute for Brain, Cognition and Behaviour, Netherlands 0.11
UMC Section Genetics, Netherlands 0.08
Laboratory of Protein Phosphorylation and Phosphoproteomics, KU Leuven, Belgium 0.05
Department of Human Genetics, RU, Netherlands 0.05
Leuven Brain Institute (LBI), KU Leuven, Belgium 0.05
Hershey Children's Hospital, Penn State, United States of America (USA) 0.05
School of Medicine and Public Health (SMPH), UW-Madison, United States of America (USA) 0.05
Unité Génétique Moléculaire, Hôpital Necker-Enfants Malades, France 0.04
Institute of Human Genetics, UDE, Germany 0.04
Stanford Department of Neurology and Neurological Sciences, United States of America (USA) 0.04
NIH National Human Genome Research Institute (NHGRI), United States of America (USA) 0.04
Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, France 0.04
Institute of Neurogenomics (ING), HMGU, Germany 0.04
GeneDx, United States of America (USA) 0.03
Department of Neurology, RU, Netherlands 0.03
Pediatric Neurology Institute, Sheba Medical Center, Israel 0.03
Jane and John Justin Neurosciences Center, United States of America (USA) 0.03
Department of Neurology, Leiden University, Netherlands 0.03
Center for Human Genetics, UCL, Belgium 0.03
Department of Clinical Genetics, Leiden University, Netherlands 0.03
TUM-HMGU Institute of Human Genetics (IHG), Germany 0.02
Kempenhaeghe Expertise Centre for Epileptology and Sleep Medicine, Netherlands 0.01
Department of Neurology, Maastricht UMC+, Netherlands 0.01
Institute of Human Genetics, HHU, Germany 0.01
NIH NHGRI Undiagnosed Diseases Network (UDN), United States of America (USA) 0.01
The Sheba Cancer Research Center (SCRC), Chaim Sheba Medical Center, Israel 0.01
Stanford Division of Medical Genetics, United States of America (USA) 0.01
Wohl Institute for Translational Medical Research - Chaim Sheba Site, Israel 0.01