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Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Autor: Rinelli, M., Bellacchio, E., Berardinelli, F., Pascolini, G., Grammatico, P., Sgura, A., Iori, A. P., Quattrocchi, L., Novelli, A., Majore, S., Agolini, E.

Publikováno v: Annals of Hematology; Mar2019, Vol. 98 Issue 3, p809-809, 1p

G6PD Potenza : A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.

Autor: Ricciardi Tenore C; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Tulli E; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Calò C; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Bertozzi R; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Evangelista J; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Maneri G; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Rinelli M; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Brisighelli F; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Perrucci A; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., De Paolis E; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Urbani A; Department of Basic Biotechnological Sciences, Intensivological and Perioperative Clinics, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Departmental Unity of Chemistry, Biochemistry and Clinical Molecular Biology, Department of Diagnostic and Laboratory Medicine, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., De Bonis M; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Minucci A; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.

Publikováno v: Genes [Genes (Basel)] 2024 Oct 04; Vol. 15 (10). Date of Electronic Publication: 2024 Oct 04.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Autor: Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de., Marcos-Grañeda E; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Weiss LA; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Gurnett CA; Department of Neurology, Washington University in St Louis, St Louis, MO, USA., Jelsig AM; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Vineke SH; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; L'institut du thorax, Inserm, Cnrs, Univ Nantes, Nantes, France., Magnussen K; Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Hashim M; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Race S; BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Maiwald R; MVZ for Coagulation Diagnostics and Medical Genetics Cologne, ÜBAG Zotz/Klimas, Cologne, Germany., Pergande M; MVZ Düsseldorf Zentrum, ÜBAG Zotz/Klimas, Düsseldorf, Germany., Milani D; Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy., Rinelli M; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Levy J; Genetics Department, CHU Robert-Debré, AP-HP, Paris, France., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Riley S; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Kretzer J; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hansen LK; HC Andersen Childrens Hospital, Odense University Hospital, Odense, Denmark., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Noble N; Blank Children's Developmental Center, Unity Point Health, Des Moines, IA, USA., Gardham A; North West Thames Regional Genetic Service, North West London Hospitals, London, UK., Tenney J; Division of Medical Genetics, University of California, San Francisco, CA, USA., Rathore G; Dvision of Pediatric Neurology, University of Nebraska Medical Center, Omaha, NE, USA., Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pavlidou DC; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Atallah I; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria., Janecke AR; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lesmann H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institut für Humangenetik, Universitätsklinikum Bonn, Universität Bonn, Bonn, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Nieto M; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain. mnlopez@cnb.csic.es., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark. zeynep.tumer@regionh.dk.; Department of Clinical Medicin, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. zeynep.tumer@regionh.dk., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Nov; Vol. 31 (11), pp. 1251-1260. Date of Electronic Publication: 2023 Aug 30.