OOIR: Observatory of International Research

Papers

(The TQCC of Circulation-Genomic and Precision Medicine is 10. 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 2022-06-01 to 2026-06-01.)

Article	Citations
Editorial Board	65
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort	56
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction	54
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk	49
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation	37
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects	35
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa	34
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy	34
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy	33
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization	32
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study	31
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies	30
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty	30
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia	29
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease	28
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation	27
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest	27
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors	27
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants	27
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction	27
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy	27
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems	27
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 Disease	26
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy	25
Editors and Editorial Board	25

Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria	24
Associations of the ICAM1 p.K56M HFpEF Risk Variant With Pericardial Adiposity and the Inflammatory Proteome	24
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes	24
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and	24
Using Omics to Identify Novel Therapeutic Targets in Heart Failure	24
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology	23
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	23
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy	20
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant	20
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	20
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies	19
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy	19
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population	19
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis	19
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)	19
Newfoundland Mutation TMEM43 -p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction	19
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	18
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant	18
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy	17
Tumor Whole-Genome Sequencing for Prediction of Venous Thromboembolism in Patients With Metastasized Solid Cancer	17
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics	17
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes	17
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases	16
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors	16
Clinical Outcome in KLHL24 Cardiomyopathy	16
Gamut of Patients Referred to Cardiology for Question of Clonal Hematopoiesis	16
Structural Evaluation of RYR2 -CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance	16
Biobank-Scale Plasma Proteomics Identifies Novel Biomarkers in Hypertrophic Cardiomyopathy	15
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial	14
Targeting PPAR-γ Reduces Fibrosis and Arrhythmogenic Remodeling in DSG2-Linked Arrhythmogenic Cardiomyopathy	14
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With	14
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations	14
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential	14
Development and Implementation of an Integrated Preclinical Atherosclerosis Database	13
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes	13
Splicing Functional Assays Into the Genetic Testing Pipeline	13
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia	13
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes	12
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk	12
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models	12
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife	12
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy	12
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study	12
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes	12
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association	12
Twenty-Five–Year Follow-Up of the MDDC1 Family: A LMNA Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement	12
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	12
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms	11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis	11

Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies	11
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension	11
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease	11
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems	11
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy	10
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions	10
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants	10
Evaluating the Cardiovascular Impact of Genetically Proxied PCSK9 and HMGCR Inhibition in East Asian and European Populations: A Drug-Target Mendelian Randomization Study	10
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies	10
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease	10
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and	10
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox	10