换一批
换一批Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
第一作者：
Katherine S,Josephs
第一单位：
National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.;Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
作者：
Katherine S,Josephs [1]
;
Angharad M,Roberts [2]
;
Pantazis,Theotokis [3]
;
Roddy,Walsh [4]
;
Philip J,Ostrowski [5]
;
Matthew,Edwards [6]
;
Andrew,Fleming [6]
;
Courtney,Thaxton [7]
;
Jason D,Roberts [8]
;
Melanie,Care [9]
;
Wojciech,Zareba [10]
;
Arnon,Adler [11]
;
Amy C,Sturm [12]
;
Rafik,Tadros [13]
;
Valeria,Novelli [14]
;
Emma,Owens [7]
;
Lucas,Bronicki [15]
;
Olga,Jarinova [15]
;
Bert,Callewaert [16]
;
Stacey,Peters [17]
;
Tom,Lumbers [18]
;
Elizabeth,Jordan [19]
;
Babken,Asatryan [20]
;
Neesha,Krishnan [21]
;
Ray E,Hershberger [19]
;
C Anwar A,Chahal [22]
;
Andrew P,Landstrom [23]
;
Cynthia,James [24]
;
Elizabeth M,McNally [25]
;
Daniel P,Judge [26]
;
Peter,van Tintelen [27]
;
Arthur,Wilde [28]
;
Michael,Gollob [29]
;
Jodie,Ingles [21]
;
James S,Ware [30]
作者单位：
National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.;Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
[1]
National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.;Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
[2]
National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.
[3]
Amsterdam University Medical Centre, University of Amsterdam, Heart Center, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
[4]
Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
[5]
Clinical Genetics & Genomics Lab, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
[6]
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[7]
Population Health Research Institute, McMaster University, and Hamilton Health Sciences, Hamilton, Ontario, Canada.
[8]
Department of Molecular Genetics, University of Toronto, Toronto, Canada.;Division of Cardiology, Toronto General Hospital, Toronto, Canada.
[9]
Clinical Cardiovascular Research Center, University of Rochester, Rochester, NY, USA.
[10]
Division of Cardiology, Peter Munk Cardiac Centre, University Health Network and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
[11]
23andMe, Genomic Health, Sunnyvale, CA, USA.
[12]
Cardiovascular Genetics Center, Montreal Heart Institute, and Faculty of Medicine, Université de Montréal, Montreal, Canada.
[13]
Unit of Immunology and Functional Genomics, Centro Cardiologico Monzino IRCCS, Milano, Italy.
[14]
Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.;Department of Genetics, CHEO, Ottawa, Ontario, Canada.
[15]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.;Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
[16]
Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.;University of Melbourne, Melbourne, Australia.
[17]
Barts Health & University College London Hospitals NHS Trusts, London, UK.;Institute of Health Informatics, University College London, London, UK.
[18]
Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
[19]
Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.;Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[20]
Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.
[21]
Center for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA, USA.;Cardiac Electrophysiology and Inherited Cardiovascular Diseases, Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.;Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.;Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
[22]
Department of Pediatrics and Cell Biology, Duke University School of Medicine, Durham, NC, USA.
[23]
Johns Hopkins Center for Inherited Heart Diseases, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
[24]
Center for Genetic Medicine, Dept of Medicine (Cardiology), Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[25]
Medical University of South Carolina, Charleston, SC, USA.
[26]
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
[27]
Department of Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.;Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.
[28]
Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, University of Toronto, Toronto, ON, Canada.
[29]
National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK. j.ware@imperial.ac.uk.;Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK. j.ware@imperial.ac.uk.;MRC London Institute of Medical Sciences, Imperial College London, London, UK. j.ware@imperial.ac.uk.
[30]
主题词
人类(Humans);基因检测(Genetic Testing);遗传变异(Genetic Variation);数据库, 遗传学(Databases, Genetic);基因组学(Genomics);遗传方式(Inheritance Patterns)
DOI
10.1186/s13073-023-01246-8
PMID
37872640
发布时间
2024-03-20
- 浏览0
Genome medicine
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