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
Description
ISSN:1530-0366
DOI:10.1038/s41436-020-0815-4