| 1 | The Clinical Usefulness of a Glaucoma Polygenic Risk Score in 4 Population-Based European Ancestry Cohorts | 7.8 | 18 | Citations (PDF) |
| 2 | Evaluation of a machine learning-based metabolic marker for coronary artery disease in the UK Biobank | 1.5 | 5 | Citations (PDF) |
| 3 | Association between genetically predicted leisure and social activities and cardiovascular disease and other health outcomes | 8.4 | 0 | Citations (PDF) |
| 4 | Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants | 4.0 | 3 | Citations (PDF) |
| 5 | Does Age Modify the Relation Between Genetic Predisposition to Glaucoma and Various Glaucoma Traits in the UK Biobank? 2025, 66, 57 | | 1 | Citations (PDF) |
| 6 | Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease | 8.1 | 5 | Citations (PDF) |
| 7 | Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk | 9.6 | 4 | Citations (PDF) |
| 8 | Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis | 0.7 | 0 | Citations (PDF) |
| 9 | Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum | 25.2 | 13 | Citations (PDF) |
| 10 | Genetic analyses of eight complex diseases using predicted continuous representations of disease | 3.2 | 2 | Citations (PDF) |
| 11 | Machine learning–based penetrance of genetic variants | 36.2 | 6 | Citations (PDF) |
| 12 | Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes | 4.2 | 9 | Citations (PDF) |
| 13 | Prediction of Venous Thromboembolism in Diverse Populations Using Machine Learning and Structured Electronic Health Records | 6.0 | 21 | Citations (PDF) |
| 14 | Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas | 6.8 | 12 | Citations (PDF) |
| 15 | Quantitative Prediction of Right Ventricular Size and Function From the ECG | 4.0 | 9 | Citations (PDF) |
| 16 | Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications | 25.2 | 24 | Citations (PDF) |
| 17 | Muesli Intake May Protect Against Coronary Artery Disease | 1.3 | 1 | Citations (PDF) |
| 18 | Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system | 6.6 | 6 | Citations (PDF) |
| 19 | Large-scale cross-ancestry genome-wide meta-analysis of serum urate | 13.7 | 26 | Citations (PDF) |
| 20 | The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population | 2.4 | 4 | Citations (PDF) |
| 21 | Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease | 25.2 | 12 | Citations (PDF) |
| 22 | Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities | 25.2 | 74 | Citations (PDF) |
| 23 | Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record–Linked Biobanks | 3.8 | 10 | Citations (PDF) |
| 24 | Comparison of blood-based liver fibrosis scores in the Mount Sinai Health System, MASLD Registry, and NHANES 2017–2020 study | 4.5 | 5 | Citations (PDF) |
| 25 | Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population | 10.4 | 0 | Citations (PDF) |
| 26 | Integration of observational and causal evidence for the association between adiposity and 17 gastrointestinal outcomes: An umbrella review and meta‐analysis | 7.5 | 4 | Citations (PDF) |
| 27 | Rare variant contribution to the heritability of coronary artery disease | 13.7 | 9 | Citations (PDF) |
| 28 | Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score | 13.7 | 7 | Citations (PDF) |
| 29 | Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease | 3.2 | 6 | Citations (PDF) |
| 30 | Cannabis Use and CKD: Epidemiological Associations and Mendelian Randomization | 2.7 | 5 | Citations (PDF) |
| 31 | Machine learning-based marker for coronary artery disease: derivation and validation in two longitudinal cohorts | 62.3 | 133 | Citations (PDF) |
| 32 | The Association of Alcohol Consumption with Glaucoma and Related Traits | 2.4 | 38 | Citations (PDF) |
| 33 | Genetic Associations Between Smoking- and Glaucoma-Related Traits | 2.2 | 8 | Citations (PDF) |
| 34 | Clinical Trial Design for Triglyceride-Rich Lipoprotein-Lowering Therapies | 2.3 | 29 | Citations (PDF) |
| 35 | Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study | 4.0 | 31 | Citations (PDF) |
| 36 | Machine Learning Identifies Plasma Metabolites Associated With Heart Failure in Underrepresented Populations With the
TTR
V122I Variant | 4.0 | 2 | Citations (PDF) |
| 37 | A machine learning model identifies patients in need of autoimmune disease testing using electronic health records | 13.7 | 25 | Citations (PDF) |
| 38 | Cholesterol Contributes to Risk, Severity, and Machine Learning-Driven Diagnosis of Lyme Disease | 5.2 | 8 | Citations (PDF) |
| 39 | Polygenic prediction of preeclampsia and gestational hypertension | 33.0 | 101 | Citations (PDF) |
| 40 | Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program | 25.2 | 53 | Citations (PDF) |
| 41 | An atlas of associations between 14 micronutrients and 22 cancer outcomes: Mendelian randomization analyses | 7.1 | 35 | Citations (PDF) |
| 42 | Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis | 6.6 | 20 | Citations (PDF) |
| 43 | Severe hypertriglyceridemia: Existing and emerging therapies 2023, 251, 108544 | | 31 | Citations (PDF) |
| 44 | Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification | 8.4 | 17 | Citations (PDF) |
| 45 | Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project | 6.0 | 33 | Citations (PDF) |
| 46 | Overcoming constraints on the detection of recessive selection in human genes from population frequency data | 6.5 | 18 | Citations (PDF) |
| 47 | Population-Based Penetrance of Deleterious Clinical Variants | 16.6 | 95 | Citations (PDF) |
| 48 | Coronary Risk Estimation Based on Clinical Data in Electronic Health Records | 2.3 | 40 | Citations (PDF) |
| 49 | Whole-genome sequencing reveals host factors underlying critical COVID-19 | 37.9 | 298 | Citations (PDF) |
| 50 | Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure | 7.4 | 41 | Citations (PDF) |
| 51 | Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential | 10.9 | 73 | Citations (PDF) |
| 52 | The Association between Serum Lipids and Intraocular Pressure in 2 Large United Kingdom Cohorts | 7.8 | 33 | Citations (PDF) |
| 53 | Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank 2022, 63, 31 | | 10 | Citations (PDF) |
| 54 | Genome-Wide Epistatic Interaction between DEF1B and APOL1 High-Risk Genotypes for Chronic Kidney Disease | 4.2 | 6 | Citations (PDF) |
| 55 | A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank | 4.4 | 3 | Citations (PDF) |
| 56 | Large-scale genome-wide association study of coronary artery disease in genetically diverse populations | 33.0 | 302 | Citations (PDF) |
| 57 | Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors | 18.1 | 87 | Citations (PDF) |
| 58 | A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies | 24.6 | 99 | Citations (PDF) |
| 59 | Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure | 13.7 | 129 | Citations (PDF) |
| 60 | Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease | 2.9 | 37 | Citations (PDF) |
| 61 | A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations | 4.2 | 38 | Citations (PDF) |
| 62 | Intraocular Pressure, Glaucoma, and Dietary Caffeine Consumption | 7.8 | 71 | Citations (PDF) |
| 63 | Exploiting the GTEx resources to decipher the mechanisms at GWAS loci | 8.1 | 266 | Citations (PDF) |
| 64 | An integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease | 13.7 | 46 | Citations (PDF) |
| 65 | Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations | 33.0 | 62 | Citations (PDF) |
| 66 | Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK Biobank | 3.2 | 4 | Citations (PDF) |
| 67 | Genome-wide polygenic risk score for retinopathy of type 2 diabetes | 2.9 | 24 | Citations (PDF) |
| 68 | Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices | 13.7 | 24 | Citations (PDF) |
| 69 | Genetic pleiotropy of
ERCC6
loss‐of‐function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries | 4.5 | 3 | Citations (PDF) |
| 70 | Non-invasive ventilation versus mechanical ventilation in hypoxemic patients with COVID-19 | 2.9 | 23 | Citations (PDF) |
| 71 | Mapping the human genetic architecture of COVID-19 | 37.9 | 871 | Citations (PDF) |
| 72 | Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program | 9.6 | 28 | Citations (PDF) |
| 73 | Derivation and Validation of Genome‐Wide Polygenic Score for Ischemic Heart Failure | 4.0 | 9 | Citations (PDF) |
| 74 | SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues | 6.3 | 37 | Citations (PDF) |
| 75 | Tissue-specific genetic features inform prediction of drug side effects in clinical trials | 10.9 | 58 | Citations (PDF) |
| 76 | Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease | 2.3 | 119 | Citations (PDF) |
| 77 | Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis | 5.3 | 18 | Citations (PDF) |
| 78 | Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study | 3.2 | 32 | Citations (PDF) |
| 79 | De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population | 7.5 | 105 | Citations (PDF) |
| 80 | Augmented intelligence with natural language processing applied to electronic health records for identifying patients with non-alcoholic fatty liver disease at risk for disease progression | 3.3 | 56 | Citations (PDF) |
| 81 | HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases | 8.1 | 70 | Citations (PDF) |
| 82 | Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With AsthmaChest, 2019, 156, 1068-1079 | 1.0 | 6 | Citations (PDF) |
| 83 | Genetic analyses of diverse populations improves discovery for complex traits | 37.9 | 973 | Citations (PDF) |
| 84 | Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information | 2.9 | 5 | Citations (PDF) |
| 85 | Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry | 16.6 | 143 | Citations (PDF) |
| 86 | No causal effects of serum urate levels on the risk of chronic kidney disease: A Mendelian randomization study | 8.1 | 126 | Citations (PDF) |
| 87 | Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases | 25.2 | 7,419 | Citations (PDF) |
| 88 | Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases | 6.7 | 13 | Citations (PDF) |
| 89 | Plasma biomarkers are associated with renal outcomes in individuals with APOL1 risk variants | 5.3 | 29 | Citations (PDF) |
| 90 | The Genetic Landscape of Diamond-Blackfan Anemia | 6.5 | 236 | Citations (PDF) |
| 91 | Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries | 13.7 | 105 | Citations (PDF) |
| 92 | Deep-coverage whole genome sequences and blood lipids among 16,324 individuals | 13.7 | 163 | Citations (PDF) |
| 93 | Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease | 2.3 | 243 | Citations (PDF) |
| 94 | Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity | 37.9 | 347 | Citations (PDF) |
| 95 | Loss of Cardioprotective Effects at the
ADAMTS7
Locus as a Result of Gene-Smoking Interactions | 18.1 | 59 | Citations (PDF) |
| 96 | Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms | 25.2 | 306 | Citations (PDF) |
| 97 | Association of Triglyceride-Related Genetic Variants With Mitral Annular Calcification | 2.3 | 31 | Citations (PDF) |
| 98 | What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants? | 4.0 | 5 | Citations (PDF) |
| 99 | Coding Variation in
ANGPTL4,
LPL,
and
SVEP1
and the Risk of Coronary Disease | 34.6 | 481 | Citations (PDF) |
| 100 | Insight into rheumatological cause and effect through the use of Mendelian randomization | 25.5 | 55 | Citations (PDF) |
| 101 | Analysis of protein-coding genetic variation in 60,706 humans | 37.9 | 9,849 | Citations (PDF) |
| 102 | No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis | 3.4 | 30 | Citations (PDF) |
| 103 | Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell TraitsCell, 2016, 165, 1530-1545 | 33.7 | 350 | Citations (PDF) |
| 104 | Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease | 36.2 | 506 | Citations (PDF) |
| 105 | Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk | 2.9 | 28 | Citations (PDF) |
| 106 | Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck | 3.2 | 90 | Citations (PDF) |
| 107 | Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease | 3.2 | 85 | Citations (PDF) |
| 108 | No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans | 25.2 | 221 | Citations (PDF) |
| 109 | Myocardial Infarction–Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With
PHACTR1
Expression Levels in Human Coronary Arteries | 6.0 | 87 | Citations (PDF) |
| 110 | Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores | 6.5 | 1,332 | Citations (PDF) |
| 111 | Searching for missing heritability: Designing rare variant association studies | 7.5 | 622 | Citations (PDF) |
| 112 | Association of Low-Density Lipoprotein Cholesterol–Related Genetic Variants With Aortic Valve Calcium and Incident Aortic Stenosis | 16.6 | 217 | Citations (PDF) |
| 113 | Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol | 6.5 | 205 | Citations (PDF) |
| 114 | Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease | 34.6 | 405 | Citations (PDF) |
| 115 | Loss-of-Function Mutations inAPOC3,Triglycerides, and Coronary Disease | 34.6 | 1,054 | Citations (PDF) |
| 116 | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction | 37.9 | 623 | Citations (PDF) |
| 117 | Discovery and refinement of loci associated with lipid levels | 25.2 | 2,993 | Citations (PDF) |
| 118 | Common variants associated with plasma triglycerides and risk for coronary artery disease | 25.2 | 833 | Citations (PDF) |
| 119 | Exome sequencing and complex disease: practical aspects of rare variant association studies | 2.9 | 115 | Citations (PDF) |
| 120 | Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia | 2.2 | 84 | Citations (PDF) |
| 121 | Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study | 62.3 | 2,112 | Citations (PDF) |
| 122 | Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis | 25.2 | 412 | Citations (PDF) |
| 123 | A High-Coverage Genome Sequence from an Archaic Denisovan Individual | 36.2 | 1,927 | Citations (PDF) |
| 124 | Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes | 36.2 | 1,620 | Citations (PDF) |
| 125 | Large-scale association analysis identifies new risk loci for coronary artery disease | 25.2 | 1,557 | Citations (PDF) |
| 126 | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease | 25.2 | 1,812 | Citations (PDF) |
| 127 | The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study | 8.1 | 81 | Citations (PDF) |
| 128 | Fine Mapping of the Insulin-Induced Gene 2 Identifies a Variant Associated With LDL Cholesterol and Total Apolipoprotein B Levels | 3.8 | 7 | Citations (PDF) |
| 129 | Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study | 6.2 | 35 | Citations (PDF) |
| 130 | Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies | 2.3 | 86 | Citations (PDF) |
| 131 | Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia | 34.6 | 717 | Citations (PDF) |
| 132 | Genetic Variation at the
Proprotein Convertase Subtilisin/Kexin Type 5
Gene Modulates High-Density Lipoprotein Cholesterol Levels | 3.8 | 33 | Citations (PDF) |
| 133 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants | 25.2 | 1,024 | Citations (PDF) |
| 134 | K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population | 4.5 | 5 | Citations (PDF) |
| 135 | Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits | 1.6 | 5 | Citations (PDF) |
| 136 | Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma | 1.6 | 6 | Citations (PDF) |
| 137 | Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma | 1.6 | 0 | Citations (PDF) |
| 138 | Gene therapy and genome editing for lipoprotein disorders | 2.2 | 11 | Citations (PDF) |
| 139 | Development of a genetic priority score to predict drug side effects using human genetic evidence | 13.7 | 1 | Citations (PDF) |
| 140 | Genetic evidence informs the direction of therapeutic modulation in drug development 0, 2, | | 2 | Citations (PDF) |
| 141 | Genomics of drug target prioritization for complex diseases | 47.0 | 1 | Citations (PDF) |
| 142 | Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction | 25.2 | 1 | Citations (PDF) |
