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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: Apr 25, 2024
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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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"Inherited cardiovascular disease mindset" can identify concealed inherited conditions at cardio-oncology evaluation: An opportunistic screening.
Rebeca Lorca et al. Int J Cardiol 2024 131825
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Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening.
Rebeca Lorca et al. J Clin Med 2024 13(1)
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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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The diagnostic value of electrocardiogram-based machine learning in long QT syndrome: a systematic review and meta-analysis.
Min-Juan Wu et al. Front Cardiovasc Med 2023 101172451
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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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CineECG analysis provides new insights into Familial ST-segment Depression Syndrome.
Rasmus Frosted et al. Europace 2023
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Generalizable and robust deep learning algorithm for atrial fibrillation diagnosis across geography, ages and sexes.
Shany Biton et al. NPJ digital medicine 2023 6(1) 44
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Sudden cardiac death in the young: An update for NPs.
Julianne Doucette et al. The Nurse practitioner 2023 48(3) 21-28
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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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ECG-based techniques to enhance clinical practice in cardiac genetic disease management.
Boonstra Machteld et al. Journal of electrocardiology 2022 7655-60
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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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Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden.
Börjesson Erik et al. PloS one 2022 17(9) e0273567
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Prolonged QT interval in athletes: Distinguishing between pathology and physiology.
Christou Georgios A et al. Cardiology 2022
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Molecular genetic testing in athletes: Why and when a position statement from the Italian society of sports cardiology.
Castelletti Silvia et al. International journal of cardiology 2022
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Association of a Common NOS1AP Variant with Attenuation of QTc Prolongation in Men with Heroin Dependence Undergoing Methadone Treatment.
Chang Kuan-Cheng et al. Journal of personalized medicine 2022 12(5)
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Association of Lipoprotein (a) in Coronary Artery Disease in Young Individuals.
Patted Aishwarya et al. The Journal of the Association of Physicians of India 2022 70(4) 11-12
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Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente Gabrielle D'Arezzo et al. Frontiers in cardiovascular medicine 2022 9823717
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Electrocardiographic Findings, Arrhythmias, and Left Ventricular Involvement in Familial ST-Depression Syndrome.
Christensen Alex Hørby et al. Circulation. Arrhythmia and electrophysiology 2022 101161CIRCEP121010688
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Out-of-hospital pediatric sudden cardiac arrest and inherited arrhythmia syndromes in Hungary.
Környei László et al. Orvosi hetilap 2022 163(12) 473-477
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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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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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Filamin C variant-associated Cardiomyopathy: A Pooled Analysis of Individual Patient Data to Evaluate the Clinical Profile and Risk of Sudden Cardiac Death.
Celeghin Rudy et al. Heart rhythm 2021
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Investigation on Sudden Unexpected Death in the Young (SUDY) in Europe: results of the European Heart Rhythm Association Survey.
Behr Elijah R 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 2021
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Sudden cardiac death in childhood hypertrophic cardiomyopathy is best predicted by a combination of ECG Risk-score and HCMRisk-Kids score.
Östman-Smith Ingegerd et al. Acta paediatrica (Oslo, Norway : 1992) 2021
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Non-Ischemic Sudden Cardiac Arrest: Role of 12 Lead Holter, Family Screening and Genetic Testing.
Blich Miry et al. Pacing and clinical electrophysiology : PACE 2021
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Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram.
Bos J Martijn et al. JAMA cardiology 2021 Feb
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Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
Joosten Isis B T 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 Nov
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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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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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