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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: May 07, 2024
. (Total: 63788 Documents since 2012)
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Deep Learning-Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome.
River Jiang et al. JAMA Cardiol 2024
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. Genome Med 2024 16(1) 13
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The frequency of gene variant reclassification and its impact on clinical management in the inherited arrhythmia clinic.
William J Young et al. Heart Rhythm 2024
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Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Jodell E Linder et al. Am J Hum Genet 2023
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Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital.
Tianzhou Shen et al. Front Cardiovasc Med 2023 101237261
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A Practical Guide to Genetic Testing in Inherited Heart Disease.
Emily E Brown et al. Card Electrophysiol Clin 2023 15(3) 241-247
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Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.
Xin Wang et al. Circ Genom Precis Med 2023 e003808
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Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation.
Lieke van den Heuvel et al. J Genet Couns 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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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. medRxiv 2023
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Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Thomas May et al. Family practice 2023
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Global research trends of hypertrophic cardiomyopathy from 2000 to 2022: Insights from bibliometric analysis.
Xifeng Zheng et al. Frontiers in cardiovascular medicine 2023 101039098
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Genetics of atrial fibrillation.
David S M Lee et al. Current opinion in cardiology 2023
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Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Estefanía Martinez-Barrios et al. International journal of legal medicine 2023
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Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists.
Flavia Piciacchia et al. Circulation. Genomic and precision medicine 2023
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Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.
Miyazawa Kazuo et al. Nature genetics 2023
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje Edgar T et al. Circulation. Genomic and precision medicine 2022 e003672
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Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families.
Isbister Julia C et al. Journal of the American College of Cardiology 2022 80(22) 2057-2068
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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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Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program.
Siskind Tamar et al. Journal of community genetics 2022
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Genetic Architecture of Acute Myocarditis and the Overlap with Inherited Cardiomyopathy.
Lota Amrit S et al. Circulation 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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The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev Sergey et al. Genes 2022 13(9)
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Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani Kaveh et al. European journal of human genetics : EJHG 2022
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Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi Melania et al. Biomolecules 2022 12(8)
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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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Secondary Findings Using Broad Pan Cardiomyopathy and Arrhythmia Panels in Patients With a Personal or Family History of Inherited Cardiomyopathy or Arrhythmia Syndrome.
Smith Emily et al. The American journal of cardiology 2022
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Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.
Carruth Eric D et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003645
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The value of genetic testing in the diagnosis and risk stratification of arrhythmogenic right ventricular cardiomyopathy.
de Brouwer Remco et al. Heart rhythm 2022
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 07, 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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