Circulation-Genomic and Precision Medicine

Papers
(The median citation count of Circulation-Genomic and Precision Medicine is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework129
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction86
Impact of Hormonal Therapies for Treatment of Hormone-Dependent Cancers (Breast and Prostate) on the Cardiovascular System: Effects and Modifications: A Scientific Statement From the American Heart As69
Interactions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels66
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association54
How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study53
Spontaneous Coronary Artery Dissection47
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy44
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families43
Genome-Wide Association Study of Peripheral Artery Disease36
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis35
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review34
Population Bias in Polygenic Risk Prediction Models for Coronary Artery Disease31
Clinical Profile of Cardiac Involvement in Danon Disease30
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension30
Genetic Basis of Left Ventricular Noncompaction27
Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association27
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis27
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease26
Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals With Atrial Fibrillation25
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women25
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies25
Cadherin 2-Related Arrhythmogenic Cardiomyopathy24
Sexual Differences in Genetic Predisposition of Coronary Artery Disease24
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing23
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population22
Polygenic Risk Score for Low-Density Lipoprotein Cholesterol Is Associated With Risk of Ischemic Heart Disease and Enriches for Individuals With Familial Hypercholesterolemia20
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome20
Polygenic Risk Score for Coronary Artery Disease Improves the Prediction of Early-Onset Myocardial Infarction and Mortality in Men20
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC320
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis18
Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K Ca 1.1, in Sinus Node Function and Arrhythmia Risk18
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death18
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa18
Concordance of a High Polygenic Score Among Relatives18
Genetic Basis of Childhood Cardiomyopathy18
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection18
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review17
Comprehensive Investigation of Circulating Biomarkers and Their Causal Role in Atherosclerosis-Related Risk Factors and Clinical Events17
Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry17
Predictive Accuracy of a Polygenic Risk Score for Postoperative Atrial Fibrillation After Cardiac Surgery17
Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes17
Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation17
Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention17
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy16
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot16
The Propagation of Racial Disparities in Cardiovascular Genomics Research16
Integrative Prioritization of Causal Genes for Coronary Artery Disease16
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants15
Plasma Proteomic Profile Predicts Survival in Heart Failure With Reduced Ejection Fraction15
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease14
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome14
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association14
Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria14
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy13
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms13
Polygenic Risk Score to Identify Subclinical Coronary Heart Disease Risk in Young Adults13
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older13
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand13
Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy13
Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank13
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study12
Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population12
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR12
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease11
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib11
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines11
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers11
Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial 11
Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation11
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program10
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations10
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes10
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants10
Multiomic Profiling in Black and White Populations Reveals Novel Candidate Pathways in Left Ventricular Hypertrophy and Incident Heart Failure Specific to Black Adults10
Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population10
Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure10
Polygenic Risk Score–Enhanced Risk Stratification of Coronary Artery Disease in Patients With Stable Chest Pain10
Clinical Impact of Secondary Risk Factors in TTN -Mediated Dilated Cardiomyopathy10
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses10
Multiomics Screening Identifies Molecular Biomarkers Causally Associated With the Risk of Coronary Artery Disease10
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype10
A Pathogenic Variant inALPK3Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy10
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy10
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant10
Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms10
Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms9
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis9
Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy9
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty9
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review9
Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure9
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome9
Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies9
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy9
System Genetics Including Causal Inference Identify Immune Targets for Coronary Artery Disease and the Lifespan9
Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes9
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies9
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch9
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning9
Genotype-Guided P2Y 12 Inhibitor Therapy After Percutaneous Coronary Intervention: A Bayesian Analysis8
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis8
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity8
Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse8
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy8
Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults8
Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Choleste8
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis8
Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy8
CHDgene: A Curated Database for Congenital Heart Disease Genes8
Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes7
Steps Toward Minimal Reporting Standards for Lipidomics Mass Spectrometry in Biomedical Research Publications7
KCNQ1 and Long QT Syndrome in 1/45 Amish7
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and 7
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria7
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands7
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results7
Life-Time Covariation of Major Cardiovascular Diseases7
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification7
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis7
Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events7
Genetic Risk Score to Identify Risk of Venous Thromboembolism in Patients With Cardiometabolic Disease7
Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias7
Human-Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for TNNT2 Δ160E-Induced Cardiomyopathy7
Common Polymorphism That Protects From Cardiovascular Disease Increases Fibronectin Processing and Secretion7
Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN -Encoded Titin Truncating Variants7
Cardiac Sarcoidosis Mimickers: Genetic Testing in Undifferentiated Inflammatory Cardiomyopathies6
Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy6
Is There a Role for Genetic Testing in Patients With Myocarditis?6
Role of Common Genetic Variation in Lone Atrial Fibrillation6
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study6
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation6
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study6
Validation of a Polygenic Score for Beta-Blocker Survival Benefit in Patients With Heart Failure Using the United Kingdom Biobank6
Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT6
Role of Adenylate Cyclase 9 in the Pharmacogenomic Response to Dalcetrapib6
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy6
Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture6
Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1–Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome6
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction5
Arrhythmogenic Right Ventricular Cardiomyopathy Prevalence and Arrhythmic Outcomes in At-Risk Family Members: A Systematic Review and Meta-Analysis5
Sex-Specific Survival Bias and Interaction Modeling in Coronary Artery Disease Risk Prediction5
Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease5
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics5
Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study5
Utility of Genetically Predicted Lp(a) (Lipoprotein [a]) and ApoB Levels for Cardiovascular Risk Assessment5
Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!5
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife5
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease5
Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis5
Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease5
Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program5
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease5
Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk5
Epigenetic Contributions to Clinical Risk Prediction of Cardiovascular Disease5
Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection5
Serum Albumin and Incident Heart Failure5
Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family5
Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes5
Metabolomic Effects of Hormone Therapy and Associations With Coronary Heart Disease Among Postmenopausal Women5
Genetically Predicted Neutrophil-to-Lymphocyte Ratio and Coronary Artery Disease: Evidence From Mendelian Randomization5
Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction5
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program4
PLEKHM2 Loss-of-Function Is Associated With Dilated Cardiomyopathy4
Genetic European Ancestry and Incident Diabetes in Black Individuals: Insights From the SPRINT Trial4
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization4
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial4
MYH7 p.Glu903Gln Is a Pathogenic Variant Associated With Hypertrophic Cardiomyopathy4
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies4
Identifying the Lipidomic Effects of a Rare Loss-of-Function Deletion in ANGPTL34
AAV-Mediated Delivery of Plakophilin-2a Arrests Progression of Arrhythmogenic Right Ventricular Cardiomyopathy in Murine Hearts: Preclinical Evidence Supporting Gene Therapy in Humans4
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study4
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children4
Associations Between Alcohol Intake and Genetic Predisposition With Atrial Fibrillation Risk in a National Biobank4
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant4
Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing4
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Vict4
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus4
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest4
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome4
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias4
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand4
Persistent Troponin Elevation in Left-Dominant Arrhythmogenic Cardiomyopathy4
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis4
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