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 2020-05-01 to 2024-05-01.)

Article	Citations
Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association	207
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework	113
Alcohol Consumption and Cardiovascular Disease	103
Interleukin-6 Signaling Effects on Ischemic Stroke and Other Cardiovascular Outcomes	80
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction	73
Interactions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels	63
Noncoding RNAs in Cardiovascular Disease: Current Knowledge, Tools and Technologies for Investigation, and Future Directions: A Scientific Statement From the American Heart Association	60
Impact of Hormonal Therapies for Treatment of Hormone-Dependent Cancers (Breast and Prostate) on the Cardiovascular System: Effects and Modifications: A Scientific Statement From the American Heart As	57
Implications of Genetic Testing in Dilated Cardiomyopathy	57
Metabolic Age Based on the BBMRI-NL ¹ H-NMR Metabolomics Repository as Biomarker of Age-related Disease	49
How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study	48
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association	47
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy	46
HeterozygousABCG5Gene Deficiency and Risk of Coronary Artery Disease	44
Spontaneous Coronary Artery Dissection	43
Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease	43
Whole Blood DNA Methylation Signatures of Diet Are Associated With Cardiovascular Disease Risk Factors and All-Cause Mortality	40
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families	40
Multiple Somatic Mutations for Clonal Hematopoiesis Are Associated With Increased Mortality in Patients With Chronic Heart Failure	39
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy	38
Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia	33
Reevaluation of the South Asian MYBPC3 ^Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy	30
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis	29
Clinical Profile of Cardiac Involvement in Danon Disease	29
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease	28

Population Bias in Polygenic Risk Prediction Models for Coronary Artery Disease	28
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension	27
Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis	26
Genome-Wide Association Study of Peripheral Artery Disease	26
Genetic Basis of Left Ventricular Noncompaction	25
Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals With Atrial Fibrillation	24
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review	24
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies	23
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease	23
Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association	23
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy	23
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis	22
Sexual Differences in Genetic Predisposition of Coronary Artery Disease	22
Cadherin 2-Related Arrhythmogenic Cardiomyopathy	22
Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes	22
Corrected QT Interval–Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members	21
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients	20
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women	20
Polygenic Risk Score for Low-Density Lipoprotein Cholesterol Is Associated With Risk of Ischemic Heart Disease and Enriches for Individuals With Familial Hypercholesterolemia	19
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population	19
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy	19
Concordance of a High Polygenic Score Among Relatives	18
Polygenic Risk Score for Coronary Artery Disease Improves the Prediction of Early-Onset Myocardial Infarction and Mortality in Men	18
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3	18
Predictive Accuracy of a Polygenic Risk Score for Postoperative Atrial Fibrillation After Cardiac Surgery	17
Genetic Risk Scores for Complex Disease Traits in Youth	17
Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry	17
Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes	17
Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation	16
Comprehensive Investigation of Circulating Biomarkers and Their Causal Role in Atherosclerosis-Related Risk Factors and Clinical Events	16
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	15
Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K _Ca 1.1, in Sinus Node Function and Arrhythmia Risk	15
The Propagation of Racial Disparities in Cardiovascular Genomics Research	15
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death	15
Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention	15
Contribution of Noncanonical Splice Variants toTTNTruncating Variant Cardiomyopathy	15
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing	15
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa	15
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome	13
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection	13
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review	13
Genetic Basis of Childhood Cardiomyopathy	13
Plasma Proteomic Profile Predicts Survival in Heart Failure With Reduced Ejection Fraction	13
Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria	13
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot	13
Genotype-Guided Dosing of Warfarin in Chinese Adults	13
Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation	13
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older	13
Polygenic Risk Score to Identify Subclinical Coronary Heart Disease Risk in Young Adults	12
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants	12

Genetically Determined Birthweight Associates With Atrial Fibrillation	12
Integrative Prioritization of Causal Genes for Coronary Artery Disease	12
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome	12
Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome	12
FADS1 (Fatty Acid Desaturase 1) Genotype Associates With Aortic Valve FADS mRNA Expression, Fatty Acid Content and Calcification	12
Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes	12
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association	12
Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing	11
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	11
Characteristics of Cardiac Phenotype in Prenatal Familial Cases With NONO Mutations	11
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib	11
Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels	11
Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank	11
Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation	11
LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy	11
Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions	11
Moving Genomics to Routine Care	11
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy	11
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand	11
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations	10
Clinical Impact of Secondary Risk Factors in TTN -Mediated Dilated Cardiomyopathy	10
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers	10
Meta-Analysis of 26 638 Individuals Identifies Two Genetic Loci Associated With Left Ventricular Ejection Fraction	10
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease	10
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR	10
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants	10
Multiomics Screening Identifies Molecular Biomarkers Causally Associated With the Risk of Coronary Artery Disease	10
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	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
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses	10