OOIR: Observatory of International Research

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 2022-01-01 to 2026-01-01.)

Article	Citations
Editorial Board	91
Relationships of Circulating Plasma Metabolites With the QT Interval in a Large Population Cohort	50
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction	42
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects	40
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation	39
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy	33
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population	32
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy	30
Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk	29
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization	29
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction	28
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants	28
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia	27
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation	26
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems	26
Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease	24
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies	24
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty	23
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors	23
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy	23
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study	23
Editors and Editorial Board	22
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest	22
Using Omics to Identify Novel Therapeutic Targets in Heart Failure	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

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
Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes	21
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and	21
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology	20
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy	20
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis	19
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants	19
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant	18
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy	17
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort	17
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death	17
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy	17
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	17
Monomorphic and Polymorphic Ventricular Arrhythmias in Heterozygous Calsequestrin-2 Mutation Carriers	16
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)	16
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	16
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies	16
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant	16
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes	16
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population	16
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases	15
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy	15
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial	15
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors	15
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants	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
Clinical Outcome in KLHL24 Cardiomyopathy	14
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics	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
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia	13
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study	13
Large-Scale Proteomics-Based Risk Score for the Prediction of Incident Cardio-Kidney-Metabolic Disease Risk	13
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	13
Splicing Functional Assays Into the Genetic Testing Pipeline	13
Development and Implementation of an Integrated Preclinical Atherosclerosis Database	12
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy	12
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome	12
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes	12
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association	11
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife	11
Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension	11
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis	11
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes	10
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease	10
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems	10
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	10
Machine Learning-Based Plasma Protein Risk Score Improves Atrial Fibrillation Prediction Over Clinical and Genomic Models	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
Multi-Population Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture with Aortopathies	9
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions	9
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†	9
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and	9
Digging Deeper Into Cardiovascular Plasma Proteomics: Opportunities and Limitations of Current Platforms	9
Value of Genetic Testing for Lipoprotein(a) Variants	9
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy	9
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease	9