| # | Title | Journal | Year | Citations |
|---|
| 1 | BEDTools: The Swiss‐Army Tool for Genome Feature Analysis | Current Protocols in Bioinformatics | 2014 | 1,836 |
| 2 | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes | Nature Genetics | 2009 | 1,513 |
| 3 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,124 |
| 4 | Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses | Nature Genetics | 2016 | 870 |
| 5 | Unexpected role of interferon-γ in regulating neuronal connectivity and social behaviour | Nature | 2016 | 507 |
| 6 | Atheroprotective roles of smooth muscle cell phenotypic modulation and the TCF21 disease gene as revealed by single-cell analysis | Nature Medicine | 2019 | 494 |
| 7 | Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases | JAMA Oncology | 2017 | 376 |
| 8 | Inherited causes of clonal haematopoiesis in 97,691 whole genomes | Nature | 2020 | 376 |
| 9 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | Nature Genetics | 2017 | 356 |
| 10 | Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer | Cancer Epidemiology Biomarkers and Prevention | 2017 | 341 |
| 11 | Shared genetic aetiology between cognitive functions and physical and mental health in UK Biobank (N=112 151) and 24 GWAS consortia | Molecular Psychiatry | 2016 | 340 |
| 12 | Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD | PLoS Genetics | 2010 | 332 |
| 13 | Invasive Epithelial Ovarian Cancer Survival by Histotype and Disease Stage | Journal of the National Cancer Institute | 2019 | 319 |
| 14 | Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis | Nature Genetics | 2017 | 306 |
| 15 | Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels | Nature Communications | 2018 | 295 |
| 16 | A strategy for predicting the chemosensitivity of human cancers and its application to drug discovery | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 284 |
| 17 | Use of quantitative molecular diagnostic methods to investigate the effect of enteropathogen infections on linear growth in children in low-resource settings: longitudinal analysis of results from the MAL-ED cohort study | The Lancet Global Health | 2018 | 280 |
| 18 | Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction | Nature Genetics | 2021 | 264 |
| 19 | Use of quantitative molecular diagnostic methods to assess the aetiology, burden, and clinical characteristics of diarrhoea in children in low-resource settings: a reanalysis of the MAL-ED cohort study | The Lancet Global Health | 2018 | 251 |
| 20 | Effect of a Web-Based Cognitive Behavior Therapy for Insomnia Intervention With 1-Year Follow-up | JAMA Psychiatry | 2017 | 242 |
| 21 | A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry | Nature Genetics | 2013 | 232 |
| 22 | KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference | Proceedings of the National Academy of Sciences of the United States of America | 2016 | 208 |
| 23 | Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis | American Journal of Respiratory and Critical Care Medicine | 2020 | 208 |
| 24 | Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations | PLoS Genetics | 2019 | 203 |
| 25 | Transforming consumer health informatics through a patient work framework: connecting patients to context | Journal of the American Medical Informatics Association: JAMIA | 2015 | 201 |
| 26 | Effects of n-3 fish oil on metabolic and histological parameters in NASH: A double-blind, randomized, placebo-controlled trial | Journal of Hepatology | 2015 | 182 |
| 27 | Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility | Nature Communications | 2015 | 173 |
| 28 | Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits | Nature Communications | 2017 | 169 |
| 29 | Macrophages redirect phagocytosis by non-professional phagocytes and influence inflammation | Nature | 2016 | 165 |
| 30 | Genome-Wide Association Studies Identify CHRNA5/3 and HTR4 in the Development of Airflow Obstruction | American Journal of Respiratory and Critical Care Medicine | 2012 | 164 |
| 31 | Etiology of Diarrhea in Bangladeshi Infants in the First Year of Life Analyzed Using Molecular Methods | Journal of Infectious Diseases | 2013 | 164 |
| 32 | Effect of Granulocyte/Macrophage Colony-Stimulating Factor on Circulating CD8+ and CD4+ T-Cell Responses to a Multipeptide Melanoma Vaccine: Outcome of a Multicenter Randomized Trial | Clinical Cancer Research | 2009 | 157 |
| 33 | Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli | Immunity | 2015 | 157 |
| 34 | Less is more, or almost as much: A 15‐item quality‐of‐life instrument for myasthenia gravis | Muscle and Nerve | 2008 | 149 |
| 35 | Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels | Journal of Clinical Investigation | 2008 | 146 |
| 36 | Continual Reassessment Method for Partial Ordering | Biometrics | 2011 | 144 |
| 37 | Klebsiella pneumoniae Carbapenemase (KPC)-Producing K. pneumoniae at a Single Institution: Insights into Endemicity from Whole-Genome Sequencing | Antimicrobial Agents and Chemotherapy | 2015 | 140 |
| 38 | A 20-gene model for molecular nodal staging of bladder cancer: development and prospective assessment | Lancet Oncology, The | 2011 | 138 |
| 39 | Effect of Sustained Inflations vs Intermittent Positive Pressure Ventilation on Bronchopulmonary Dysplasia or Death Among Extremely Preterm Infants | JAMA - Journal of the American Medical Association | 2019 | 137 |
| 40 | Management of One-lung Ventilation | Anesthesiology | 2016 | 134 |
| 41 | Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes | Nature Genetics | 2021 | 133 |
| 42 | Factors associated with quality of life in older adults in the United States | Quality of Life Research | 2012 | 131 |
| 43 | Genome-wide association analysis identifies six new loci associated with forced vital capacity | Nature Genetics | 2014 | 131 |
| 44 | Meta-Analysis of Prostatic Artery Embolization for Benign Prostatic Hyperplasia | Journal of Vascular and Interventional Radiology | 2016 | 130 |
| 45 | Cistrome Cancer: A Web Resource for Integrative Gene Regulation Modeling in Cancer | Cancer Research | 2017 | 130 |
| 46 | Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study | BMJ: British Medical Journal | 2017 | 126 |
| 47 | Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project | American Journal of Human Genetics | 2012 | 123 |
| 48 | Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes | Nature Genetics | 2018 | 122 |
| 49 | Air Travel and Venous Thromboembolism: A Systematic Review | Journal of General Internal Medicine | 2007 | 119 |
| 50 | Multifactorial Determinants of Functional Capacity in Peripheral Arterial Disease | Journal of the American College of Cardiology | 2009 | 119 |
