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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 08, 2024
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Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.
Adelina Pupaza et al. Diagnostics (Basel) 2023 13(23)
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Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome.
Stefaan Six et al. Europace 2023 25(9)
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Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging.
Antonio Bisignani et al. JACC Clin Electrophysiol 2023
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Jesse B Hayesmoore et al. Eur J Hum Genet 2023
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Management of Inherited Arrhythmia Syndromes: A HiRO Consensus Handbook on Process of Care.
Mikyla L Janzen et al. CJC Open 2023 5(4) 268-284
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Spotlight on the 2022 ESC guideline management of ventricular arrhythmias and prevention of sudden cardiac death: 10 novel key aspects.
Hilke Könemann et al. Europace 2023
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Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Luigi Pannone et al. Europace 2023
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Characterisation and long-term follow-up of children with Brugada syndrome: experience from a tertiary paediatric referral centre.
Fernandes Sara I L et al. Cardiology in the young 2022 1-6
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The SCN5A gene is a phenotype severity predictor in Brugada syndrome - a comprehensive literature review.
Deica Andreea Valentina et al. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2022
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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen Jia et al. Orphanet journal of rare diseases 2022 17(1) 394
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Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement.
Peltenburg P J et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2022
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Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.
Nafissi Navid A et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003675
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[Sudden cardiac death in young people and in adults: primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna].
Leone Ornella et al. Giornale italiano di cardiologia (2006) 2022 23(3) 200-210
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc Julien et al. Nature genetics 2022
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J Barc et al, Nature Genetics, February 24, 2022
Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
Brunet-Garcia Laia et al. Pediatric cardiology 2022
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Ventricular arrhythmia management in patients with genetic cardiomyopathies.
Sharif Zain I et al. Heart rhythm O2 2022 2(6Part B) 819-831
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The BrAID study protocol: integration of machine learning and transcriptomics for brugada syndrome recognition.
Morales M A et al. BMC cardiovascular disorders 2021 21(1) 494
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Electrophysiological Study Prognostic Value and Long-Term Outcome in Drug-Induced Type 1 Brugada Syndrome: The IBRYD Study.
Russo Vincenzo et al. JACC. Clinical electrophysiology 2021
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Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey.
Conte Giulio et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Dec 22(12) 1904-1910
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Long-term prognosis of women with Brugada syndrome and Electrophysiologic study.
Rodríguez-Mañero Moisés et al. Heart rhythm 2020 Dec
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Role of Non-Coding Variants in Brugada Syndrome.
Pérez-Agustín Adrian et al. International journal of molecular sciences 2020 Nov 21(22)
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
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Ajmaline Testing and the Brugada Syndrome.
Rizzo Alessandro et al. The American journal of cardiology 2020 Aug
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A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
Rucinski Cynthia et al. Journal of the American College of Cardiology 2020 Jun 75(21) 2698-2707
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Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
Gray Belinda et al. Heart, lung & circulation 2020 Apr
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The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Pradat Pierre-François et al. Orphanet journal of rare diseases 2020 Apr 15(1) 90
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The Evolution of Gene-Guided Management of Inherited Arrhythmia Syndromes: Peering Beyond Monogenic Paradigms Towards Comprehensive Genomic Risk Scores.
Rowe Matthew K et al. Journal of cardiovascular electrophysiology 2020 Feb
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Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan
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Genetic Testing in Inherited Heart Diseases.
Ingles Jodie et al. Heart, lung & circulation 2019 Nov
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 08, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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