Circulation-Genomic and Precision Medicine

Papers
(The TQCC of Circulation-Genomic and Precision Medicine is 9. 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 2021-12-01 to 2025-12-01.)
ArticleCitations
Editorial Board89
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction49
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy38
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk38
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects38
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
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort29
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population29
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization28
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors28
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction27
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation26
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease25
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia25
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study24
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants24
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty24
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy23
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems23
Coronary Artery Disease Polygenic Risk Score Identifies Patients at Higher Risk for Recurrent Cardiovascular Events in the CANTOS Trial23
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies22
Editors and Editorial Board22
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 Disease22
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest21
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and 21
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria21
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes20
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy20
Using Omics to Identify Novel Therapeutic Targets in Heart Failure20
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease20
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology20
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis19
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants19
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant19
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch18
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy17
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death17
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant16
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population16
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy16
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)16
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort16
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies16
Clinical Outcome in KLHL24 Cardiomyopathy15
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis15
Monomorphic and Polymorphic Ventricular Arrhythmias in Heterozygous Calsequestrin-2 Mutation Carriers15
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes15
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With 14
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors14
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential14
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy14
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial14
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics14
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations13
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review13
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants13
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study13
Splicing Functional Assays Into the Genetic Testing Pipeline13
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia13
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk13
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association12
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension12
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome12
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy12
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife12
Development and Implementation of an Integrated Preclinical Atherosclerosis Database12
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models12
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes12
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis11
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes11
Multi-Population Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture with Aortopathies10
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease10
Evaluating the Cardiovascular Impact of Genetically Proxied PCSK9 and HMGCR Inhibition in East Asian and European Populations: A Drug-Target Mendelian Randomization Study10
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions10
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy10
Value of Genetic Testing for Lipoprotein(a) Variants10
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis10
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and 9
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox9
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†9
On Penetrance Estimation in Family, Clinical, and Population Cohorts9
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease9
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms9
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