The GENESIS database and tools: A decade of discovery in Mendelian genomics.

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Title: The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Authors: Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Powell E; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Dohrn MF; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany., Beijer D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Fazal S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Medina J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Chen S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Arcia de Jesus Y; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Schatzman J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Hershberger RE; Divisions of Human Genetics and Cardiovascular Medicine, Department of Internal Medicine, and the Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH, USA., Saporta M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences and Born-Bunge Institute, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Falk M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Herrmann DN; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Cortese A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behaviour Sciences, University of Pavia, Pavia, Italy., Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, 2650 Ribeirão Preto, Brazil., Cornejo-Olivas MR; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima 15003, Peru., Sanmaneechai O; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Kennerson ML; ANZAC Research Institute, Sydney Local Health District, Concord, NSW 2139 and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia., Jordanova A; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology and Department of Biomedical Sciences, University of Antwerp, Antwerpen 2610, Belgium; Molecular Medicine Center Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria., Silva TYT; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil., Pedroso JL; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil., Schierbaum L; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Peric S; Faculty of Medicine, University of Belgrade, Dr Subotica 6, Belgrade, Serbia., Lee YC; Department of Neurology, National Yang Ming Chiao Tung University, Taipei, Taiwan., Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Ravenscroft G; Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Basak N; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, 34010 Istanbul, Turkey., Schule R; Center for Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany; Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address: szuchner@med.miami.edu.
Source: Experimental neurology [Exp Neurol] 2024 Dec; Vol. 382, pp. 114978. Date of Electronic Publication: 2024 Sep 30.
Publication Type: Journal Article; Review
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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