OOIR: Observatory of International Research

Papers

(The TQCC of Circulation-Genomic and Precision Medicine is 11. 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.)

Article	Citations
Editorial Board	69
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort	63
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction	60
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy	39
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy	38
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa	38
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects	37
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation	35
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization	33
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk	31
Metabolomic and Proteomic Signatures of Cardiorespiratory Fitness for Predicting All-Cause Mortality and Non-Communicable Disease Risk: A Prospective Study in the UK Biobank	31
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation	30
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study	30
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction	30
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease	30
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants	29
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia	29
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems	28
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors	28
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies	28
Polygenic Prediction of Nongoal Response to Statin Therapy	28
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy	27
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest	27
Editors and Editorial Board	26
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

Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and	26
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes	25
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy	25
Associations of the ICAM1 p.K56M HFpEF Risk Variant With Pericardial Adiposity and the Inflammatory Proteome	24
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	23
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria	21
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology	21
Using Omics to Identify Novel Therapeutic Targets in Heart Failure	21
Newfoundland Mutation TMEM43 -p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction	20
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy	20
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis	20
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant	20
Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in the All of Us Program	19
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	19
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population	19
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy	19
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)	19
Influence of Genotype on Cardiac Phenotype in Pediatric Hypertrophic Cardiomyopathy	18
Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly	18
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant	17
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors	17
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes	17
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies	17
Clinical Outcome in KLHL24 Cardiomyopathy	16
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy	16
Structural Evaluation of RYR2 -CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance	16
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases	15
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics	15
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential	14
Targeting PPAR-γ Reduces Fibrosis and Arrhythmogenic Remodeling in DSG2-Linked Arrhythmogenic Cardiomyopathy	14
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia	14
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations	14
Tumor Whole-Genome Sequencing for Prediction of Venous Thromboembolism in Patients With Metastasized Solid Cancer	14
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 Phenotypes	14
Gamut of Patients Referred to Cardiology for Question of Clonal Hematopoiesis	14
Biobank-Scale Plasma Proteomics Identifies Novel Biomarkers in Hypertrophic Cardiomyopathy	14
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	14
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk	13
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy	13
Development and Implementation of an Integrated Preclinical Atherosclerosis Database	13
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes	13
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association	13
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study	13
Splicing Functional Assays Into the Genetic Testing Pipeline	13
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	12
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension	12
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife	12
Twenty-Five–Year Follow-Up of the MDDC1 Family: A LMNA Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement	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

Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models	12
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy	11
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms	11
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions	11
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems	11
Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies	11
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and	11
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease	11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis	11
Evaluating the Cardiovascular Impact of Genetically Proxied PCSK9 and HMGCR Inhibition in East Asian and European Populations: A Drug-Target Mendelian Randomization Study	11