Circulation-Genomic and Precision Medicine

Papers
(The median citation count of Circulation-Genomic and Precision Medicine is 3. 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 2021-02-01 to 2025-02-01.)
ArticleCitations
MYH7 p.Glu903Gln Is a Pathogenic Variant Associated With Hypertrophic Cardiomyopathy133
Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data94
Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course79
Multiomic Profiling in Black and White Populations Reveals Novel Candidate Pathways in Left Ventricular Hypertrophy and Incident Heart Failure Specific to Black Adults74
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy59
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants58
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand50
How Normal Is Low-Normal Left Ventricular Ejection Fraction in Familial Dilated Cardiomyopathy?39
Polygenic Risk and Coronary Artery Disease Severity37
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant36
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States30
Transcription Factors Leave Their Mark on the Heart28
Genetically Predicted Pulse Pressure and Risk of Abdominal Aortic Aneurysm: A Mendelian Randomization Analysis27
Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease27
Hidden Risk: Arrhythmogenic Genes in the General Population27
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study26
Cardioinformatics Advancements in Healthcare and Biotechnology25
Editorial Board25
Correction to: Coassin et al, Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk25
Life by the Numbers24
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects23
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity22
Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT22
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection22
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib20
Role of Common Genetic Variation in Lone Atrial Fibrillation20
Plasma Proteomic Profile Predicts Survival in Heart Failure With Reduced Ejection Fraction18
Sexual Differences in Genetic Predisposition of Coronary Artery Disease18
System Genetics Including Causal Inference Identify Immune Targets for Coronary Artery Disease and the Lifespan18
Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family18
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 Syndrome18
CHDgene: A Curated Database for Congenital Heart Disease Genes18
Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults18
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes17
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population17
Life-Time Covariation of Major Cardiovascular Diseases17
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy17
Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias17
Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis17
Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation16
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation16
Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin16
Phenotypic Spectrum of Subclinical Sarcomere-Related Hypertrophic Cardiomyopathy and Transition to Overt Disease16
Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias15
Validation of a Polygenic Score for Beta-Blocker Survival Benefit in Patients With Heart Failure Using the United Kingdom Biobank15
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy14
Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopa14
Heritability of Atrial Fibrillation Among Swedish Adoptees14
Enhancing the Prediction Power of Polygenic Risk Scores in Genetically Diverse Coronary Heart Disease14
Interactions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels13
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review13
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant13
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 Choleste13
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases12
Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents12
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children12
Retraction of: Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 112
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa11
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features11
Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K Ca 1.1, in Sinus Node Function and Arrhythmia Risk11
Potential Diagnostic Role for a Combined Postmortem DNA and RNA Sequencing for Brugada Syndrome11
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome11
Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations10
Genetically Predicted Lipid Traits, Diabetes Liability, and Carotid Intima-Media Thickness in African Ancestry Individuals: A Mendelian Randomization Study10
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock10
Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome10
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome10
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias10
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing10
Cardiomyopathy Genes and Idiopathic VF: A Known Unknown?10
Communal Coping as a Strategy to Enhance Family Engagement in Dilated Cardiomyopathy10
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants10
Incremental Value of a Metabolic Risk Score for Heart Failure Mortality: A Population-Based Study10
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors10
Splicing Functional Assays Into the Genetic Testing Pipeline10
Early Childhood-Onset Hypertrophic Cardiomyopathy in a Family With an In-Frame MYH7 Deletion10
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand9
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy9
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy9
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation9
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses9
Is There a Role for Genetic Testing in Patients With Myocarditis?9
Coronary Artery Disease Polygenic Risk Score Identifies Patients at Higher Risk for Recurrent Cardiovascular Events in the CANTOS Trial9
Novel Insights Into DMD-Associated Dilated Cardiomyopathy9
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty9
Sex-Specific Survival Bias and Interaction Modeling in Coronary Artery Disease Risk Prediction9
Genetic Basis of Left Ventricular Noncompaction9
Heterogeneity of the Predictive Polygenic Risk Scores for Coronary Heart Disease Age-at-Onset in Three Different Coronary Heart Disease Family-Based Ascertainments9
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study9
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies9
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction8
Polygenic Risk in Families With Dilated Cardiomyopathy8
Genetic Risk Score to Identify Risk of Venous Thromboembolism in Patients With Cardiometabolic Disease8
Multi-Trait Genetic Analysis Reveals Clinically Interpretable Hypertension Subtypes8
Common SYNE2 Genetic Variant Associated With Atrial Fibrillation Lowers Expression of Nesprin-2α1 With Downstream Effects on Nuclear and Electrophysiological Traits8
Metabolite Signature of Life’s Essential 8 and Risk of Coronary Heart Disease Among Low-Income Black and White Americans8
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family8
Development and Implementation of an Integrated Preclinical Atherosclerosis Database8
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants7
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes7
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy7
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot7
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results7
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy7
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study7
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants7
Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture7
Single-Cell Dissection of the Immune Response After Acute Myocardial Infarction7
Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention7
Prediction of Major Adverse Cardiovascular Events in Patients With Hypertrophic Cardiomyopathy Using Proteomics Profiling7
Circulating Blood Plasma Profiling Reveals Proteomic Signature and a Causal Role for SVEP1 in Sudden Cardiac Death7
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women7
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome7
Genetic European Ancestry and Incident Diabetes in Black Individuals: Insights From the SPRINT Trial7
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research6
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy6
Polygenic Prediction of Recurrent Events After Early-Onset Myocardial Infarction6
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes6
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems6
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease6
Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes6
Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes6
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia6
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis6
Understanding the Complex Genetics of Spontaneous Coronary Artery Dissection: A Guide for Clinicians6
PLEKHM2 Loss-of-Function Is Associated With Dilated Cardiomyopathy6
Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies5
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease5
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants5
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy5
Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection5
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes5
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study5
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning5
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy5
Data Interoperability for Ambulatory Monitoring of Cardiovascular Disease: A Scientific Statement From the American Heart Association5
Genetic Basis of Childhood Cardiomyopathy5
Clinical Impact of Secondary Risk Factors in TTN -Mediated Dilated Cardiomyopathy5
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy5
Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease5
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms5
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis5
Using Omics to Identify Novel Therapeutic Targets in Heart Failure5
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study5
Arrhythmogenic Right Ventricular Cardiomyopathy Prevalence and Arrhythmic Outcomes in At-Risk Family Members: A Systematic Review and Meta-Analysis5
Editors and Editorial Board5
Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events5
AAV-Mediated Delivery of Plakophilin-2a Arrests Progression of Arrhythmogenic Right Ventricular Cardiomyopathy in Murine Hearts: Preclinical Evidence Supporting Gene Therapy in Humans4
The Need for Inclusive Genomic Research4
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program4
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers4
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife4
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association4
Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank4
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR4
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum4
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation4
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands4
Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN -Encoded Titin Truncating Variants4
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis4
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest4
Familial Associations of Complete Atrioventricular Block: A National Family Study in Sweden4
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing4
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older4
Correction to: High-Resolution Regulatory Maps Connect Vascular Risk Variants to Disease-Related Pathways4
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria4
Random Survival Forest Machine Learning for the Prediction of Cardiovascular Events Among Patients With a Measured Lipoprotein(a) Level: A Model Development Study3
Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population3
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 3
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy3
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease3
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems3
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy3
Human-Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for TNNT2 Δ160E-Induced Cardiomyopathy3
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC33
Value of Genetic Testing for Lipoprotein(a) Variants3
Identifying the Lipidomic Effects of a Rare Loss-of-Function Deletion in ANGPTL33
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 As3
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype3
Genome-Wide Association Study of Peripheral Artery Disease3
Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults3
Crossing the Threshold of Therapeutic Hope for Patients With PKP2 Arrhythmogenic Cardiomyopathy3
Cadherin 2-Related Arrhythmogenic Cardiomyopathy3
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review3
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