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Paper Details

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
51
2020
ERK, ERK2, MAPK, MAPK1, MAPK1 variants, MEK, MKP3, Neurodevelopmental Disorder, Noonan syndrome, PTPN11, RAF, RASopathies, RASopathy, cancer-prone disorders, mitogen-activated protein kinase 1, mitogen-associated protein kinase, neurodevelopmental disease, protein kinase 2
Author NameAffiliation
Francesca Clementina RadioIRCCS
Serena CecchettiIstituto Superiore di Sanita
Laura MazzantiPoliclinico S. Orsola-Malpighi Hospital, University of Bologna
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
Danielle MouhlasInstitute for Genomic Medicine, Nationwide Children's Hospital
Giuseppe ZampinoCenter for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Gemelli, Universita Cattolica del Sacro Cuore
Cesare RossiPoliclinico S. Orsola-Malpighi, University of Bologna
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg
Bruno DallapiccolaIRCCS
Simone MartinelliIstituto Superiore di Sanita
Elisabetta FlexIstituto Superiore di Sanita
Marco TartagliaIRCCS
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