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 2021-05-01 to 2025-05-01.)
ArticleCitations
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation163
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 Choleste91
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population74
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy71
Editorial Board56
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects50
Multiomic Profiling in Black and White Populations Reveals Novel Candidate Pathways in Left Ventricular Hypertrophy and Incident Heart Failure Specific to Black Adults45
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy34
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study33
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization33
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia32
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors30
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants28
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women25
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty25
Coronary Artery Disease Polygenic Risk Score Identifies Patients at Higher Risk for Recurrent Cardiovascular Events in the CANTOS Trial23
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction23
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation23
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems21
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies21
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy21
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand21
Using Omics to Identify Novel Therapeutic Targets in Heart Failure20
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest20
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease20
Editors and Editorial Board20
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes20
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria20
Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes19
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy19
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 Disease19
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology18
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort18
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy17
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch17
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis17
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy16
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants16
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death16
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)15
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant15
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population15
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 15
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis14
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics14
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With 14
Monomorphic and Polymorphic Ventricular Arrhythmias in Heterozygous Calsequestrin-2 Mutation Carriers14
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies14
Clinical Outcome in KLHL24 Cardiomyopathy14
Correction to: Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial14
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases13
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes13
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential13
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review12
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants12
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes12
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association12
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study12
Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease12
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome11
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes11
Splicing Functional Assays Into the Genetic Testing Pipeline11
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy11
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis11
Development and Implementation of an Integrated Preclinical Atherosclerosis Database11
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association11
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions10
Correction to: High-Resolution Regulatory Maps Connect Vascular Risk Variants to Disease-Related Pathways10
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes10
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy10
Evaluating the Cardiovascular Impact of Genetically Proxied PCSK9 and HMGCR Inhibition in East Asian and European Populations: A Drug-Target Mendelian Randomization Study10
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning10
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems10
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and 10
Value of Genetic Testing for Lipoprotein(a) Variants10
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis10
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife10
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease10
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants9
Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension9
On Penetrance Estimation in Family, Clinical, and Population Cohorts9
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†9
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies9
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population9
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox9
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease9
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin ( DES )-Associated Cardiomyopathy9
Correction to: Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association9
Genetically Predicted Pulse Pressure and Risk of Abdominal Aortic Aneurysm: A Mendelian Randomization Analysis8
Enhancing the Prediction Power of Polygenic Risk Scores in Genetically Diverse Coronary Heart Disease8
Associations Between Genetic Variation in the Targets of Low-Density Lipoprotein–Lowering Drugs and Rheumatoid Arthritis8
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers8
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States8
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study8
Sex Differences in the Association of Multiethnic Genome-Wide Blood Pressure Polygenic Risk Score With Population-Level Systolic Blood Pressure Trajectories8
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment8
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study8
MYH7 p.Glu903Gln Is a Pathogenic Variant Associated With Hypertrophic Cardiomyopathy8
Harnessing the Potential of Genetics to Understand the Impact of Sleep Apnea on Cardiovascular Risk8
Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation8
Long-Term Effects of Mavacamten on Patients Based on Hypertrophic Cardiomyopathy Pathogenic Genetic Variant Status: Insights From VALOR-HCM Trial7
Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin7
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing7
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib7
Polygenic Risk in Families With Dilated Cardiomyopathy7
Evaluating the Cardiometabolic Efficacy and Safety of Lipoprotein Lipase Pathway Targets in Combination With Approved Lipid-Lowering Targets: A Drug Target Mendelian Randomization Study7
Genetic Basis of Left Ventricular Noncompaction7
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy6
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies6
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy6
Family Screening in Patients With Dilated and Arrhythmogenic Cardiomyopathy: The Road Toward Gene-Specific Recommendations6
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis6
Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease6
Data Interoperability for Ambulatory Monitoring of Cardiovascular Disease: A Scientific Statement From the American Heart Association6
Patient-Scientist Perspective on Developing Genetic Therapies for Marfan Syndrome6
Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection6
COL3A1 Missense Variant in a Patient Presenting With Hemoptysis6
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome6
Circulating Branched-Chain Amino Acids, Incident Cardiovascular Disease, and Mortality in the African American Study of Kidney Disease and Hypertension6
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review6
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older6
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases6
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2 -Related LQTS6
Polygenic Risk Score–Enhanced Risk Stratification of Coronary Artery Disease in Patients With Stable Chest Pain6
Common Polymorphism That Protects From Cardiovascular Disease Increases Fibronectin Processing and Secretion6
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 As6
Combining Polygenic and Proteomic Risk Scores With Clinical Risk Factors to Improve Performance for Diagnosing Absence of Coronary Artery Disease in Patients With de novo Chest Pain5
Targeted Proteomics Reveals Functional Targets for Early Diabetes Susceptibility in Young Adults5
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program5
Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse5
Heritability of Atrial Fibrillation Among Swedish Adoptees5
Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations5
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant5
Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program5
Potential Diagnostic Role for a Combined Postmortem DNA and RNA Sequencing for Brugada Syndrome5
Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry5
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias5
Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation5
Novel Insights Into DMD-Associated Dilated Cardiomyopathy5
Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study5
Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure5
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy5
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 Syndrome5
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy5
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results5
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome4
Prediction of Major Adverse Cardiovascular Events in Patients With Hypertrophic Cardiomyopathy Using Proteomics Profiling4
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research4
Single-Cell Dissection of the Immune Response After Acute Myocardial Infarction4
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features4
Heterogeneity of the Predictive Polygenic Risk Scores for Coronary Heart Disease Age-at-Onset in Three Different Coronary Heart Disease Family-Based Ascertainments4
Incremental Value of a Metabolic Risk Score for Heart Failure Mortality: A Population-Based Study4
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family4
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants4
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants4
The Need for Inclusive Genomic Research4
Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events3
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy3
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study3
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers3
Familial Associations of Complete Atrioventricular Block: A National Family Study in Sweden3
Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants3
Network Preservation Analysis Reveals Dysregulated Metabolic Pathways in Human Vascular Smooth Muscle Cell Phenotypic Switching3
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing3
Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes3
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum3
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy3
Race, Ancestry, and Disease Outcomes in Black Individuals: a Clarification3
Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population3
Circulating Metabolite Profiles and Risk of Coronary Heart Disease Among Racially and Geographically Diverse Populations3
Crossing the Threshold of Therapeutic Hope for Patients With PKP2 Arrhythmogenic Cardiomyopathy3
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms3
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease3
Anthropometric Traits and Risk of Mitral Valve Prolapse: A Mendelian Randomization Study3
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis3
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