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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)
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Last data update: May 16, 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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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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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo Lisa M et al. JAMA cardiology 2022
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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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Genetic Association between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis Jeanne L et al. Circulation. Genomic and precision medicine 2020 Dec
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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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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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Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298
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Inherited Cardiac Arrhythmias and Channelopathies.
Kline Jessica et al. The Medical clinics of North America 2019 Sep 103(5) 809-820
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CLINGEN Actionability Report for Catecholaminergic Polymorphic Ventricular Tachycardia - RYR2
ClinGen Actionability Working Group
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.
Roston Thomas M 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 2018 20(3) 541-547
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Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing.
Stepien-Wojno Malgorzata et al. Polish archives of internal medicine 2018 Nov
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Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion.
Sarquella-Brugada Georgia et al. Current cardiology reviews 2018 Sep
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Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.
Christian S et al. Journal of genetic counseling 2018 Aug
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Physical activity restriction for children and adolescents diagnosed with an inherited arrhythmia or cardiomyopathy and its impact on body mass index.
Christian Susan et al. Journal of cardiovascular electrophysiology 2018 Aug
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Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".
Ruiz-Guerrero Luis et al. Circulation. Genomic and precision medicine 2018 May 11(5) e002159
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Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".
Kapplinger Jamie D et al. Circulation. Genomic and precision medicine 2018 May 11(5) e002176
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Cardiac Channelopathies: Recognition, Treatment, Management.
Hickey Kathleen T et al. AACN advanced critical care 2018 29(1) 43-57
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Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.
Mak C M et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Mar
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Channelopathies as Causes of Sudden Cardiac Death.
Schwartz Peter J et al. Cardiac electrophysiology clinics 2017 Dec 9(4) 537-549
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Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo Soo Hyun et al. Annals of laboratory medicine 2018 Jan 38(1) 54-58
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Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Landstrom Andrew P et al. Circulation. Arrhythmia and electrophysiology 2017 Apr 10(4)
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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Garcia John et al. Frontiers in cardiovascular medicine 2016 320
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Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
Burgos Mariana et al. Molecular diagnosis & therapy 2016 Jun
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Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations.
Hammond-Haley Matthew et al. International journal of cardiology 2016 Feb 209234-241
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Genetic Testing and Genetic Counseling in Patients With Sudden Death Risk Due to Heritable Arrhythmias.
Spoonamore Katherine G et al. Heart rhythm : the official journal of the Heart Rhythm Society 2015 Nov
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Genetic screening in sudden cardiac death in the young can save future lives.
Stattin Eva-Lena et al. Int. J. Legal Med. 2015 Jul 31.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 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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