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 2021-05-01 to 2025-05-01.)

Article	Citations
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation	163
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	91
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population	74
Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy	71
Editorial Board	56
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects	50
Multiomic Profiling in Black and White Populations Reveals Novel Candidate Pathways in Left Ventricular Hypertrophy and Incident Heart Failure Specific to Black Adults	45
Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy	34
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study	33
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization	33
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia	32
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors	30
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants	28
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women	25
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty	25
Coronary Artery Disease Polygenic Risk Score Identifies Patients at Higher Risk for Recurrent Cardiovascular Events in the CANTOS Trial	23
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction	23
Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation	23
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems	21
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies	21
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy	21
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand	21
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest	20
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	20
Editors and Editorial Board	20

Resource of Gene Expression Data From a Multiethnic Population Cohort of Induced Pluripotent Stem Cell–Derived Cardiomyocytes	20
Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria	20
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	19
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	19
Multiethnic Genome-Wide Association Study of Subclinical Atherosclerosis in Individuals With Type 2 Diabetes	19
DNA Methylation-Based Biomarkers of Protein Levels and Cardiovascular Disease Risk: Opportunities and Challenges for Precision Cardiology	18
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort	18
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	17
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis	17
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy	17
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants	16
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death	16
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy	16
In Memoriam: Prof. Dr. Jeanette Erdmann (1965–2023)	15
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant	15
Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population	15
Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial	15
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	14
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics	14
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With	14
Monomorphic and Polymorphic Ventricular Arrhythmias in Heterozygous Calsequestrin-2 Mutation Carriers	14
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies	14
Clinical Outcome in KLHL24 Cardiomyopathy	14
Correction to: Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction	14
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial	14
Sex-Specific Association Between Genetic Risk of Psychiatric Disorders and Cardiovascular Diseases	13
Yield of Genetic Testing for Long-QT Syndrome in Elderly Patients With Torsades de Pointes	13
Invasive Assessment of Coronary Artery Disease in Clonal Hematopoiesis of Indeterminate Potential	13
Differential Deep RNA Sequencing for Diagnostic Detection of Microbial Infections in Inflammatory Cardiomyopathy	13
Pregnancy Outcomes in Females With Dilated Cardiomyopathy–Associated Rare Genetic Variants	12
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes	12
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association	12
Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study	12
Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease	12
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	12
Splicing Functional Assays Into the Genetic Testing Pipeline	11
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy	11
Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	11
Development and Implementation of an Integrated Preclinical Atherosclerosis Database	11
Artificial Intelligence to Enhance Precision Medicine in Cardio-Oncology: A Scientific Statement From the American Heart Association	11
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome	11
DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes	11
Correction to: High-Resolution Regulatory Maps Connect Vascular Risk Variants to Disease-Related Pathways	10
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
Role of Genetic Testing for Cardiomyopathies in Pediatric Patients With Left Ventricular Dysfunction Secondary to Chemotherapy	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
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning	10
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems	10
Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and	10

Value of Genetic Testing for Lipoprotein(a) Variants	10
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis	10
Association of Genome-Wide Polygenic Risk Score for Body Mass Index With Cardiometabolic Health From Childhood Through Midlife	10
Long Noncoding RNA TRIBAL Links the 8q24.13 Locus to Hepatic Lipid Metabolism and Coronary Artery Disease	10
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions	10
Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension	9
On Penetrance Estimation in Family, Clinical, and Population Cohorts	9
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants	9
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†	9
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies	9
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population	9
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease	9
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin ( DES )-Associated Cardiomyopathy	9
Correction to: Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association	9
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox	9