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 2022-05-01 to 2026-05-01.)
ArticleCitations
Editorial Board62
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort54
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction52
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization48
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects37
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa34
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy34
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation33
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy32
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants30
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk30
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease29
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies29
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction29
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia28
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study27
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty27
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy27
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors27
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation27
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 Disease25
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems25
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria25
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest25
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes24
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy24
Editors and Editorial Board24
Associations of the ICAM1 p.K56M HFpEF Risk Variant With Pericardial Adiposity and the Inflammatory Proteome23
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and 22
Using Omics to Identify Novel Therapeutic Targets in Heart Failure22
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease21
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology20
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant20
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis20
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch19
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy19
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy18
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)18
Newfoundland Mutation TMEM43 -p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction18
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population18
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant18
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes17
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With 17
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis17
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics17
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies17
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy16
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases16
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors16
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential16
Tumor Whole-Genome Sequencing for Prediction of Venous Thromboembolism in Patients With Metastasized Solid Cancer16
Gamut of Patients Referred to Cardiology for Question of Clonal Hematopoiesis15
Biobank-Scale Plasma Proteomics Identifies Novel Biomarkers in Hypertrophic Cardiomyopathy14
Clinical Outcome in KLHL24 Cardiomyopathy14
Structural Evaluation of RYR2 -CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance14
Targeting PPAR-γ Reduces Fibrosis and Arrhythmogenic Remodeling in DSG2-Linked Arrhythmogenic Cardiomyopathy14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review13
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations13
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy12
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models12
Splicing Functional Assays Into the Genetic Testing Pipeline12
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes12
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association12
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study12
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes12
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia12
Development and Implementation of an Integrated Preclinical Atherosclerosis Database12
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk12
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems11
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis11
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis11
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes11
Twenty-Five–Year Follow-Up of the MDDC1 Family: A LMNA Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement11
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension11
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
On Penetrance Estimation in Family, Clinical, and Population Cohorts10
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms10
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease10
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies10
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and 10
Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies10
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions10
Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension9
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population9
Genetic Architecture of N-Terminal Pro-B-Type Natriuretic Peptide in a Multiancestry Study 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
Precision Medicine and the FDA Modernization Act 2.0: Catalyzing Innovation in Cardiovascular Therapy9
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study8
FGF12 Alleviates Cardiac Hypertrophy by Inhibiting Phosphorylation of CaM/CaMKII/CREB1 Axis8
Genetically Predicted Pulse Pressure and Risk of Abdominal Aortic Aneurysm: A Mendelian Randomization Analysis8
Associations Between Genetic Variation in the Targets of Low-Density Lipoprotein–Lowering Drugs and Rheumatoid Arthritis8
Harnessing the Potential of Genetics to Understand the Impact of Sleep Apnea on Cardiovascular Risk8
Correction to: Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association8
Importance of Clinical, Laboratory, and Genetic Risk Factors for Incident CAD8
Evaluating the Cardiometabolic Efficacy and Safety of Lipoprotein Lipase Pathway Targets in Combination With Approved Lipid-Lowering Targets: A Drug Target Mendelian Randomization Study8
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers8
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants8
Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation8
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†8
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment8
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States8
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin ( DES )-Associated Cardiomyopathy8
Sex Differences in the Association of Multiethnic Genome-Wide Blood Pressure Polygenic Risk Score With Population-Level Systolic Blood Pressure Trajectories8
Patient-Scientist Perspective on Developing Genetic Therapies for Marfan Syndrome7
Yield of Postmortem Genetic Testing in Sudden Arrhythmic Death Syndrome: A Systematic Review and Meta-Analysis7
Polygenic Risk in Families With Dilated Cardiomyopathy7
Long-Term Effects of Mavacamten on Patients Based on Hypertrophic Cardiomyopathy Pathogenic Genetic Variant Status: Insights From VALOR-HCM Trial7
Enhancing the Prediction Power of Polygenic Risk Scores in Genetically Diverse Coronary Heart Disease7
Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium7
Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin7
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study7
Long-Term Efficacy and Safety of GLP-1R Agonist and SGLT2 Inhibitor Therapy in the General Population: A Mendelian Randomization Study6
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2 -Related LQTS6
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy6
Genetic Basis of Left Ventricular Noncompaction6
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing6
ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element6
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases6
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy6
Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes6
Data Interoperability for Ambulatory Monitoring of Cardiovascular Disease: A Scientific Statement From the American Heart Association5
Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System5
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program5
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis5
MEK Inhibition Improves Clinical Outcome in Premature Infants With Multisystemic RASA1 Disease5
Human Genetics Informing Drug Development in Cardiovascular Disease: Interleukin-6 Signaling as a Case Study5
Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease5
Circulating Branched-Chain Amino Acids, Incident Cardiovascular Disease, and Mortality in the African American Study of Kidney Disease and Hypertension5
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
Molecular Phenogroups in Heart Failure: Large-Scale Proteomics in a Population-Based Cohort4
Potential Diagnostic Role for a Combined Postmortem DNA and RNA Sequencing for Brugada Syndrome4
Correction of the Murine Model of Congenital Heart Disease Associated With the Nkx2-5 Mutation Using Prime Editing4
Prediction of Major Adverse Cardiovascular Events in Patients With Hypertrophic Cardiomyopathy Using Proteomics Profiling4
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant4
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
Phenome-Wide Mendelian Randomization Identifying Circulating Proteins for Cardiovascular Traits in Populations of African Ancestry4
Heritability of Atrial Fibrillation Among Swedish Adoptees4
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features4
Calmodulinopathies: The Need for a Registry4
Family Screening in Patients With Dilated and Arrhythmogenic Cardiomyopathy: The Road Toward Gene-Specific Recommendations4
Targeted Proteomics Reveals Functional Targets for Early Diabetes Susceptibility in Young Adults4
Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation4
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy4
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family4
Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations4
Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events3
Anthropometric Traits and Risk of Mitral Valve Prolapse: A Mendelian Randomization Study3
Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease3
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy3
Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants3
Incremental Value of a Metabolic Risk Score for Heart Failure Mortality: A Population-Based Study3
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results3
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum3
Novel Insights Into DMD-Associated Dilated Cardiomyopathy3
Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives3
Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes3
Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing3
Circulating Metabolite Profiles and Risk of Coronary Heart Disease Among Racially and Geographically Diverse Populations3
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease3
Crossing the Threshold of Therapeutic Hope for Patients With PKP2 Arrhythmogenic Cardiomyopathy3
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research3
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants3
Single-Cell Dissection of the Immune Response After Acute Myocardial Infarction3
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study3
Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population3
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
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers3
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy3
Friend of GATA2 Variant Ser657Gly Is Associated With Coronary Microvascular Disease3
Drug Target Mendelian Randomization: Distinguishing Between Causal Mechanisms and Biomarkers of Those Mechanisms3
Familial Associations of Complete Atrioventricular Block: A National Family Study in Sweden3
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