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. |
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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39357594 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The GENESIS database and tools: A decade of discovery in Mendelian genomics. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Danzi+MC%22">Danzi MC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Powell+E%22">Powell E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rebelo+AP%22">Rebelo AP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dohrn+MF%22">Dohrn MF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fazal+S%22">Fazal S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Xu+IRL%22">Xu IRL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Medina+J%22">Medina J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Arcia+de+Jesus+Y%22">Arcia de Jesus Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schatzman+J%22">Schatzman J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hershberger+RE%22">Hershberger RE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Saporta+M%22">Saporta M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Falk+M%22">Falk M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Cortese+A%22">Cortese A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Marques+W%22">Marques W</searchLink>; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, 2650 Ribeirão Preto, Brazil.<br /><searchLink fieldCode="AU" term="%22Cornejo-Olivas+MR%22">Cornejo-Olivas MR</searchLink>; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima 15003, Peru.<br /><searchLink fieldCode="AU" term="%22Sanmaneechai+O%22">Sanmaneechai O</searchLink>; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Kennerson+ML%22">Kennerson ML</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Silva+TYT%22">Silva TYT</searchLink>; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Pedroso+JL%22">Pedroso JL</searchLink>; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Schierbaum+L%22">Schierbaum L</searchLink>; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ebrahimi-Fakhari+D%22">Ebrahimi-Fakhari D</searchLink>; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Peric+S%22">Peric S</searchLink>; Faculty of Medicine, University of Belgrade, Dr Subotica 6, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Lee+YC%22">Lee YC</searchLink>; Department of Neurology, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Shy+M%22">Shy M</searchLink>; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Basak+N%22">Basak N</searchLink>; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, 34010 Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Schule+R%22">Schule R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370712%22">Experimental neurology</searchLink> [Exp Neurol] 2024 Dec; Vol. 382, pp. 114978. <i>Date of Electronic Publication: </i>2024 Sep 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370712 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1090-2430 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200144886%22">00144886 </searchLink><i>NLM ISO Abbreviation: </i>Exp Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39357594 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.expneurol.2024.114978 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 114978 Titles: – TitleFull: The GENESIS database and tools: A decade of discovery in Mendelian genomics. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Danzi MC – PersonEntity: Name: NameFull: Powell E – PersonEntity: Name: NameFull: Rebelo AP – PersonEntity: Name: NameFull: Dohrn MF – PersonEntity: Name: NameFull: Beijer D – PersonEntity: Name: NameFull: Fazal S – PersonEntity: Name: NameFull: Xu IRL – PersonEntity: Name: NameFull: Medina J – PersonEntity: Name: NameFull: Chen S – PersonEntity: Name: NameFull: Arcia de Jesus Y – PersonEntity: Name: NameFull: Schatzman J – PersonEntity: Name: NameFull: Hershberger RE – PersonEntity: Name: NameFull: Saporta M – PersonEntity: Name: NameFull: Baets J – PersonEntity: Name: NameFull: Falk M – PersonEntity: Name: NameFull: Herrmann DN – PersonEntity: Name: NameFull: Scherer SS – PersonEntity: Name: NameFull: Reilly MM – PersonEntity: Name: NameFull: Cortese A – PersonEntity: Name: NameFull: Marques W – PersonEntity: Name: NameFull: Cornejo-Olivas MR – PersonEntity: Name: NameFull: Sanmaneechai O – PersonEntity: Name: NameFull: Kennerson ML – PersonEntity: Name: NameFull: Jordanova A – PersonEntity: Name: NameFull: Silva TYT – PersonEntity: Name: NameFull: Pedroso JL – PersonEntity: Name: NameFull: Schierbaum L – PersonEntity: Name: NameFull: Ebrahimi-Fakhari D – PersonEntity: Name: NameFull: Peric S – PersonEntity: Name: NameFull: Lee YC – PersonEntity: Name: NameFull: Synofzik M – PersonEntity: Name: NameFull: Tekin M – PersonEntity: Name: NameFull: Ravenscroft G – PersonEntity: Name: NameFull: Shy M – PersonEntity: Name: NameFull: Basak N – PersonEntity: Name: NameFull: Schule R – PersonEntity: Name: NameFull: Zuchner S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2024 Dec Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1090-2430 Numbering: – Type: volume Value: 382 Titles: – TitleFull: Experimental neurology Type: main |
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