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 2022-08-01 to 2026-08-01.)
ArticleCitations
Editorial Board69
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort63
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction60
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy39
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy38
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa38
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects37
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation35
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization33
Metabolomic and Proteomic Signatures of Cardiorespiratory Fitness for Predicting All-Cause Mortality and Non-Communicable Disease Risk: A Prospective Study in the UK Biobank31
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk31
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease30
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation30
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study30
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction30
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia29
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants29
Polygenic Prediction of Nongoal Response to Statin Therapy28
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems28
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors28
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies28
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest27
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy27
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and 26
Editors and Editorial Board26
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 Disease26
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes25
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy25
Associations of the ICAM1 p.K56M HFpEF Risk Variant With Pericardial Adiposity and the Inflammatory Proteome24
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease23
Using Omics to Identify Novel Therapeutic Targets in Heart Failure21
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria21
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology21
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy20
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis20
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant20
Newfoundland Mutation TMEM43 -p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction20
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population19
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy19
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)19
Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in the All of Us Program19
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch19
Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly18
Influence of Genotype on Cardiac Phenotype in Pediatric Hypertrophic Cardiomyopathy18
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies17
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant17
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors17
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes17
Structural Evaluation of RYR2 -CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance16
Clinical Outcome in KLHL24 Cardiomyopathy16
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy16
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics15
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases15
Gamut of Patients Referred to Cardiology for Question of Clonal Hematopoiesis14
Biobank-Scale Plasma Proteomics Identifies Novel Biomarkers in Hypertrophic Cardiomyopathy14
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review14
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential14
Targeting PPAR-γ Reduces Fibrosis and Arrhythmogenic Remodeling in DSG2-Linked Arrhythmogenic Cardiomyopathy14
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia14
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations14
Tumor Whole-Genome Sequencing for Prediction of Venous Thromboembolism in Patients With Metastasized Solid Cancer14
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With 14
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes14
Development and Implementation of an Integrated Preclinical Atherosclerosis Database13
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes13
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association13
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study13
Splicing Functional Assays Into the Genetic Testing Pipeline13
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk13
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy13
Twenty-Five–Year Follow-Up of the MDDC1 Family: A LMNA Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement12
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes12
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models12
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis12
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension12
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife12
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis11
Evaluating the Cardiovascular Impact of Genetically Proxied PCSK9 and HMGCR Inhibition in East Asian and European Populations: A Drug-Target Mendelian Randomization Study11
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy11
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms11
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions11
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems11
Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies11
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and 11
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease10
Precision Medicine and the FDA Modernization Act 2.0: Catalyzing Innovation in Cardiovascular Therapy10
On Penetrance Estimation in Family, Clinical, and Population Cohorts10
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†10
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants10
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox10
Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension9
Harnessing the Potential of Genetics to Understand the Impact of Sleep Apnea on Cardiovascular Risk9
Genetic Architecture of N-Terminal Pro-B-Type Natriuretic Peptide in a Multiancestry Study Population9
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population9
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin ( DES )-Associated Cardiomyopathy9
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies9
Importance of Clinical, Laboratory, and Genetic Risk Factors for Incident CAD8
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment8
Sex Differences in the Association of Multiethnic Genome-Wide Blood Pressure Polygenic Risk Score With Population-Level Systolic Blood Pressure Trajectories8
Unlocking the Regulatory Genome: Interpreting the Clinical Impact of Noncoding Variants in Genetic Cardiomyopathies8
Associations Between Genetic Variation in the Targets of Low-Density Lipoprotein–Lowering Drugs and Rheumatoid Arthritis8
Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation8
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers8
Correction to: Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association8
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study7
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States7
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study7
Genetic Testing in Congenital Heart Disease: From Microarray to Genome Sequencing7
FGF12 Alleviates Cardiac Hypertrophy by Inhibiting Phosphorylation of CaM/CaMKII/CREB1 Axis7
Enhancing the Prediction Power of Polygenic Risk Scores in Genetically Diverse Coronary Heart Disease7
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases6
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing6
Evaluating the Cardiometabolic Efficacy and Safety of Lipoprotein Lipase Pathway Targets in Combination With Approved Lipid-Lowering Targets: A Drug Target Mendelian Randomization Study6
Patient-Scientist Perspective on Developing Genetic Therapies for Marfan Syndrome6
Polygenic Risk in Families With Dilated Cardiomyopathy6
Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium6
Long-Term Effects of Mavacamten on Patients Based on Hypertrophic Cardiomyopathy Pathogenic Genetic Variant Status: Insights From VALOR-HCM Trial6
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy6
Long-Term Efficacy and Safety of GLP-1R Agonist and SGLT2 Inhibitor Therapy in the General Population: A Mendelian Randomization Study6
Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin6
Yield of Postmortem Genetic Testing in Sudden Arrhythmic Death Syndrome: A Systematic Review and Meta-Analysis6
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2 -Related LQTS5
Circulating Branched-Chain Amino Acids, Incident Cardiovascular Disease, and Mortality in the African American Study of Kidney Disease and Hypertension5
Human Genetics Informing Drug Development in Cardiovascular Disease: Interleukin-6 Signaling as a Case Study5
Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes5
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy5
Data Interoperability for Ambulatory Monitoring of Cardiovascular Disease: A Scientific Statement From the American Heart Association5
Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease5
ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element5
Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry5
MEK Inhibition Improves Clinical Outcome in Premature Infants With Multisystemic RASA1 Disease5
Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings5
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis5
Phenome-Wide Mendelian Randomization Identifying Circulating Proteins for Cardiovascular Traits in Populations of African Ancestry4
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 Pain4
Family Screening in Patients With Dilated and Arrhythmogenic Cardiomyopathy: The Road Toward Gene-Specific Recommendations4
Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System4
Novel Truncating Variant c.1222DupC in RBM20 Causes Cardiomyopathy Consistent With Haploinsufficiency4
Potential Diagnostic Role for a Combined Postmortem DNA and RNA Sequencing for Brugada Syndrome4
Incremental Value of a Metabolic Risk Score for Heart Failure Mortality: A Population-Based Study4
Drug Target Mendelian Randomization: Distinguishing Between Causal Mechanisms and Biomarkers of Those Mechanisms4
Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation4
Heritability of Atrial Fibrillation Among Swedish Adoptees4
Targeted Proteomics Reveals Functional Targets for Early Diabetes Susceptibility in Young Adults4
Molecular Phenogroups in Heart Failure: Large-Scale Proteomics in a Population-Based Cohort4
Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives4
Calmodulinopathies: The Need for a Registry4
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family4
Novel Insights Into DMD-Associated Dilated Cardiomyopathy4
Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations4
Detecting and Mitigating Bias for Inclusive and Trustworthy Clinical Research: A Scientific Statement From the American Heart Association4
Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study4
Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program4
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant4
Friend of GATA2 Variant Ser657Gly Is Associated With Coronary Microvascular Disease4
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results4
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy4
Network Preservation Analysis Reveals Dysregulated Metabolic Pathways in Human Vascular Smooth Muscle Cell Phenotypic Switching3
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants3
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy3
Crossing the Threshold of Therapeutic Hope for Patients With PKP2 Arrhythmogenic Cardiomyopathy3
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease3
Prediction of Major Adverse Cardiovascular Events in Patients With Hypertrophic Cardiomyopathy Using Proteomics Profiling3
Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population3
Functional and Molecular Characterization of Novel GDF2 (BMP9 ) and BMP10 Variants From the French PAH and3
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers3
Genome-Wide Association Study of Chronic Venous Insufficiency and Lymphedema in the Million Veteran Program3
Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes3
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy3
Single-Cell Dissection of the Immune Response After Acute Myocardial Infarction3
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum3
PPARγ Antagonism: Expanding the Therapeutic Armamentarium in Arrhythmogenic Cardiomyopathy3
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study3
Anthropometric Traits and Risk of Mitral Valve Prolapse: A Mendelian Randomization Study3
Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events3
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research3
Correction of the Murine Model of Congenital Heart Disease Associated With the Nkx2-5 Mutation Using Prime Editing3
Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants3
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features3
Familial Associations of Complete Atrioventricular Block: A National Family Study in Sweden3
Metabolic Task Analysis Reveals Distinct Metabotypes in End-Stage Dilated Cardiomyopathy3
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing3
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