Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Autor: Cheng H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gottlieb L; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA., Kleyner R; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA., Bhardwaj P; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA., Rope AF; Kaiser Permanente Center for Health Research, Portland, OR 97227, USA.; Genome Medical, South San Francisco, CA 94080, USA., Rosenheck S; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA., Moutton S; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.; Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France., Philippe C; Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France.; Laboratoire de Génétique, Innovation Diagnostic Génomique des Maladies Rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire, Dijon 21070, France., Eyaid W; King Abdulaziz Medical City, King Saud Bin AbdulAziz University-Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Toribio J; Division of Cardiology, CEDIMAT, Santo Domingo 51000, Dominican Republic., Mena R; Neonatal Intensive Care Unit, Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic.; Division Of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Prada CE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Stessman H; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA., Bernier R; Department of Psychiatry, University of Washington, Seattle, WA 98195, USA., Wermuth M; Klinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany., Kauffmann B; Klinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany., Blaumeiser B; University and University Hospital of Antwerp, Antwerp, Belgium., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 GD, The Netherlands., Conway SJ; HB Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Chen Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Mihajlovic L; GeneInfo, Human Genetics, 18000 Niš, Serbia., Marmorstein R; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Jazyk: angličtina
Zdroj: Human molecular genetics [Hum Mol Genet] 2020 Mar 27; Vol. 29 (5), pp. 877-878.
DOI: 10.1093/hmg/ddz173
Databáze: MEDLINE