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 2020-11-01 to 2024-11-01.)

Article	Citations
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework	129
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction	86
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	69
Interactions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels	66
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association	54
How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study	53
Spontaneous Coronary Artery Dissection	47
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy	44
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families	43
Genome-Wide Association Study of Peripheral Artery Disease	36
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis	35
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review	34
Population Bias in Polygenic Risk Prediction Models for Coronary Artery Disease	31
Clinical Profile of Cardiac Involvement in Danon Disease	30
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension	30
Genetic Basis of Left Ventricular Noncompaction	27
Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association	27
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis	27
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease	26
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies	25
Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals With Atrial Fibrillation	25
Association of Plasma Branched-Chain Amino Acid With Biomarkers of Inflammation and Lipid Metabolism in Women	25
Cadherin 2-Related Arrhythmogenic Cardiomyopathy	24
Sexual Differences in Genetic Predisposition of Coronary Artery Disease	24
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing	23

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population	22
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3	20
Polygenic Risk Score for Low-Density Lipoprotein Cholesterol Is Associated With Risk of Ischemic Heart Disease and Enriches for Individuals With Familial Hypercholesterolemia	20
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome	20
Polygenic Risk Score for Coronary Artery Disease Improves the Prediction of Early-Onset Myocardial Infarction and Mortality in Men	20
Concordance of a High Polygenic Score Among Relatives	18
Genetic Basis of Childhood Cardiomyopathy	18
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection	18
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis	18
Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K _Ca 1.1, in Sinus Node Function and Arrhythmia Risk	18
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death	18
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa	18
Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation	17
Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention	17
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review	17
Comprehensive Investigation of Circulating Biomarkers and Their Causal Role in Atherosclerosis-Related Risk Factors and Clinical Events	17
Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry	17
Predictive Accuracy of a Polygenic Risk Score for Postoperative Atrial Fibrillation After Cardiac Surgery	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
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy	16
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot	16
The Propagation of Racial Disparities in Cardiovascular Genomics Research	16
Integrative Prioritization of Causal Genes for Coronary Artery Disease	16
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants	15
Plasma Proteomic Profile Predicts Survival in Heart Failure With Reduced Ejection Fraction	15
Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria	14
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea–Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease	14
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome	14
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association	14
Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy	13
Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank	13
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy	13
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms	13
Polygenic Risk Score to Identify Subclinical Coronary Heart Disease Risk in Young Adults	13
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older	13
Sex-Specific Associations of Genetically Predicted Circulating Lp(a) (Lipoprotein(a)) and Hepatic LPA Gene Expression Levels With Cardiovascular Outcomes: Mendelian Rand	13
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR	12
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study	12
Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population	12
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
Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation	11
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease	11
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib	11
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines	11
Risk of Congenital Heart Defects in Offspring of Affected Mothers and Fathers	11
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy	10
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant	10
Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms	10
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program	10
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations	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
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants	10
Multiomic Profiling in Black and White Populations Reveals Novel Candidate Pathways in Left Ventricular Hypertrophy and Incident Heart Failure Specific to Black Adults	10
Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population	10
Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure	10
Polygenic Risk Score–Enhanced Risk Stratification of Coronary Artery Disease in Patients With Stable Chest Pain	10
Clinical Impact of Secondary Risk Factors in TTN -Mediated Dilated Cardiomyopathy	10
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses	10
Multiomics Screening Identifies Molecular Biomarkers Causally Associated With the Risk of Coronary Artery Disease	10
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype	10
A Pathogenic Variant inALPK3Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy	10
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy	9
Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes	9
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies	9
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch	9
Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning	9
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review	9
Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms	9
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis	9
Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy	9
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty	9
System Genetics Including Causal Inference Identify Immune Targets for Coronary Artery Disease and the Lifespan	9
Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure	9
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome	9
Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies	9