Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase,Cause Progressive Microcephaly,Cerebral-Cerebellar Atrophy,and Intractable Seizures |
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| Authors: | Xiaochang Zhang,Jiqiang Ling,Giulia Barcia,Lili Jing,Jiang Wu,Brenda J. Barry,Ganeshwaran H. Mochida,R. Sean Hill,Jill M. Weimer,Quinn Stein,Annapurna Poduri,Jennifer N. Partlow,Dorothé e Ville,Olivier Dulac,Tim W. Yu,Anh-Thu N. Lam,Sarah Servattalab,Jacqueline Rodriguez,Nathalie Boddaert,Arnold Munnich,Laurence Colleaux,Leonard I. Zon,Dieter Sö ll,Christopher A. Walsh,Rima Nabbout |
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| Affiliation: | 1 Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA;2 Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA;3 Howard Hughes Medical Institute;4 Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520-8114, USA;5 Department of Microbiology and Molecular Genetics, University of Texas Health Science Center, Houston, TX 77030, USA;6 Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker–Enfants Malades, Assistance Publique–Hôpitaux de Paris, 75015 Paris, France;7 Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France;8 Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l’Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France;9 Stem Cell Program and Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Stem Cell Institute, Harvard Medical School, Boston, MA 02115, USA;10 Department of Pediatrics, Harvard Medical School, MA 02115, USA;11 Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA;12 Sanford Children’s Health Research Center, Sanford Research, 2301 East 60th Street North, Sioux Falls, SD 57104, USA;13 Departments of Pediatrics and Ob/Gyn, Sanford School of Medicine, Sioux Falls, SD 57105, USA;14 Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA;15 Department of Neurology, Harvard Medical School, Boston, MA 02115, USA;16 Department of Pediatric Neurology, Centre Hospitalier Universitaire de Lyon, 69007 Lyon, France;17 Institut National de la Santé et de la Recherche Médicale U781, Department of Pediatric Radiology, Hôpital Necker–Enfants Malades, Imagine institute, Université Paris Descartes, 75006 Paris, France;18 Institut National de la Santé et de la Recherche Médicale U781, Department of Genetics, Hôpital Necker–Enfants Malades, Imagine institute, Université Paris Descartes, 75006 Paris, France;19 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA |
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