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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

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Title: De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Authors: Singh S; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Dincer Y; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany., Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Humberson JB; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Green S; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., van Gassen K; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Brandt T; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Si Y; GeneDx, Gaithersburg, MD, USA., Mall V; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; kbo-Kinderzentrum München, Munich, Germany., Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA., Engleman K; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA., Safina NP; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Bryant EM; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA., Tan WH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Granadillo J; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Misra SN; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Towner S; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Brilstra EH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Koeleman BPC; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. b.p.c.koeleman@umcutrecht.nl.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1413-1417. Date of Electronic Publication: 2020 May 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Singh+S%22">Singh S</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gupta+A%22">Gupta A</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Sigafoos+AN%22">Sigafoos AN</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Clark+KJ%22">Clark KJ</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Dincer+Y%22">Dincer Y</searchLink>; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Humberson+JB%22">Humberson JB</searchLink>; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Green+S%22">Green S</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22van+Gassen+K%22">van Gassen K</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brandt+T%22">Brandt T</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Millan+F%22">Millan F</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Si+Y%22">Si Y</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mall+V%22">Mall V</searchLink>; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; kbo-Kinderzentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</searchLink>; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Gavrilova+RH%22">Gavrilova RH</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Engleman+K%22">Engleman K</searchLink>; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA.<br /><searchLink fieldCode="AU" term="%22Safina+NP%22">Safina NP</searchLink>; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA.<br /><searchLink fieldCode="AU" term="%22Slaugh+R%22">Slaugh R</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Bryant+EM%22">Bryant EM</searchLink>; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Tan+WH%22">Tan WH</searchLink>; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Granadillo+J%22">Granadillo J</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Misra+SN%22">Misra SN</searchLink>; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Schaefer+GB%22">Schaefer GB</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Towner+S%22">Towner S</searchLink>; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Brilstra+EH%22">Brilstra EH</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koeleman+BPC%22">Koeleman BPC</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. b.p.c.koeleman@umcutrecht.nl.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1413-1417. <i>Date of Electronic Publication: </i>2020 May 05.
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