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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

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Title: Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Authors: Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Bocchinfuso G; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133, Rome, Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Di Rocco M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy; Department of Biochemical Science 'A. Rossi Fanelli,' Sapienza University of Rome, 00185 Rome, Italy., Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, 1117 Amsterdam, the Netherlands., Brilstra EH; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Boni S; Medical Genetics Unit, S. Martino Hospital, 32100 Belluno, Italy., Mazzanti L; Department of Medical and Surgical Sciences, Policlinico S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy., Tamburrino F; Department of Medical and Surgical Sciences, Policlinico S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy., Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN 46202, USA., Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN 46202, USA., Fernández-Jaén A; Department of Pediatrics Neurology, Hospital Universitario Quirón de Madrid, Universidad Europea de Madrid, 28223 Madrid, Spain., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Dave-Wala A; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA., Reshmi SC; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43215, USA., Bartholomew DW; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA., Mouhlas D; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA., Carpentieri G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Lißewski C; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Waclaw RR; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, 1117 Amsterdam, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Wentzensen IM; GeneDx, Gaithersburg, 20877 MD, USA., Morrow MM; GeneDx, Gaithersburg, 20877 MD, USA., Álvarez S; Medical Department, NimGenetics, 28049 Madrid, Spain., Martínez-García M; Medical Department, NimGenetics, 28049 Madrid, Spain., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Memo L; Ambulatorio Genetica Clinica, Ospedale San Bortolo, 36100 Vicenza, Italy., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Gemelli, Università Cattolica del Sacro Cuore, 00168 Rome, Italy., Rossi C; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, 40138 Bologna, Italy., Seri M; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, 40138 Bologna, Italy., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Stella L; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133, Rome, Italy., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Source: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 499-513. Date of Electronic Publication: 2020 Jul 27.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Motta+M%22">Motta M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pannone+L%22">Pannone L</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pantaleoni+F%22">Pantaleoni F</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bocchinfuso+G%22">Bocchinfuso G</searchLink>; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Radio+FC%22">Radio FC</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cecchetti+S%22">Cecchetti S</searchLink>; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ciolfi+A%22">Ciolfi A</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Rocco+M%22">Di Rocco M</searchLink>; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy; Department of Biochemical Science 'A. Rossi Fanelli,' Sapienza University of Rome, 00185 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Elting+MW%22">Elting MW</searchLink>; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, 1117 Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brilstra+EH%22">Brilstra EH</searchLink>; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Boni+S%22">Boni S</searchLink>; Medical Genetics Unit, S. Martino Hospital, 32100 Belluno, Italy.<br /><searchLink fieldCode="AU" term="%22Mazzanti+L%22">Mazzanti L</searchLink>; Department of Medical and Surgical Sciences, Policlinico S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Tamburrino+F%22">Tamburrino F</searchLink>; Department of Medical and Surgical Sciences, Policlinico S. 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Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Dave-Wala+A%22">Dave-Wala A</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.<br /><searchLink fieldCode="AU" term="%22Reshmi+SC%22">Reshmi SC</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43215, USA.<br /><searchLink fieldCode="AU" term="%22Bartholomew+DW%22">Bartholomew DW</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.<br /><searchLink fieldCode="AU" term="%22Mouhlas+D%22">Mouhlas D</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.<br /><searchLink fieldCode="AU" term="%22Carpentieri+G%22">Carpentieri G</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; 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Medical Department, NimGenetics, 28049 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22De+Luca+A%22">De Luca A</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Memo+L%22">Memo L</searchLink>; Ambulatorio Genetica Clinica, Ospedale San Bortolo, 36100 Vicenza, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Gemelli, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rossi+C%22">Rossi C</searchLink>; Medical Genetics Unit, Policlinico S. 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            – Type: issue
              Value: 3
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1