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 2021-08-01 to 2025-08-01.)

Article	Citations
Editorial Board	81
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy	78
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation	61
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects	56
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population	45
Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Choleste	40
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk	38
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization	37
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy	36
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies	29
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy	29
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors	28
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty	27
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction	26
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia	25
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems	24
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants	24
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation	24
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women	23
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand	23
Coronary Artery Disease Polygenic Risk Score Identifies Patients at Higher Risk for Recurrent Cardiovascular Events in the CANTOS Trial	22
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes	22
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	22
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study	22
Editors and Editorial Board	22

Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	21
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria	21
Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes	21
Using Omics to Identify Novel Therapeutic Targets in Heart Failure	20
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy	20
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest	20
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology	19
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death	19
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	19
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy	18
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort	18
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants	18
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant	18
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis	18
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy	18
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant	17
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	17
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)	17
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With	16
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases	16
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential	16
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population	16
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies	16
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics	15
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes	15
Clinical Outcome in KLHL24 Cardiomyopathy	15
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy	14
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association	14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial	14
Correction to: Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction	14
Monomorphic and Polymorphic Ventricular Arrhythmias in Heterozygous Calsequestrin-2 Mutation Carriers	14
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants	13
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy	13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	13
Correction to: Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations	13
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes	13
Development and Implementation of an Integrated Preclinical Atherosclerosis Database	12
Splicing Functional Assays Into the Genetic Testing Pipeline	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
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	12
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes	12
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome	12
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems	12
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study	12
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association	12
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension	12
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
Correction to: High-Resolution Regulatory Maps Connect Vascular Risk Variants to Disease-Related Pathways	11
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife	11

Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and	11
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models	11
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy	11
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease	11
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
Correction to: Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association	10
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies	10
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment	10
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease	10
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin ( DES )-Associated Cardiomyopathy	10
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†	10
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers	10
On Penetrance Estimation in Family, Clinical, and Population Cohorts	10
Harnessing the Potential of Genetics to Understand the Impact of Sleep Apnea on Cardiovascular Risk	10
Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension	10
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox	10
Importance of Clinical, Laboratory, and Genetic Risk Factors for Incident CAD	10
Value of Genetic Testing for Lipoprotein(a) Variants	10
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population	10