| # | Title | Journal | Year | Citations |
|---|
| 1 | MultiQC: summarize analysis results for multiple tools and samples in a single report | Bioinformatics | 2016 | 4,633 |
| 2 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 3 | Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies | Science Translational Medicine | 2014 | 3,665 |
| 4 | Large-scale association analysis identifies new risk loci for coronary artery disease | Nature Genetics | 2013 | 1,439 |
| 5 | New genetic loci link adipose and insulin biology to body fat distribution | Nature | 2015 | 1,328 |
| 6 | Association analysis identifies 65 new breast cancer risk loci | Nature | 2017 | 1,099 |
| 7 | Effects of long-term exposure to air pollution on natural-cause mortality: an analysis of 22 European cohorts within the multicentre ESCAPE project | Lancet, The | 2014 | 1,077 |
| 8 | Large-scale genotyping identifies 41 new loci associated with breast cancer risk | Nature Genetics | 2013 | 960 |
| 9 | Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial | Lancet, The | 2011 | 849 |
| 10 | AMP-activated protein kinase signaling in metabolic regulation | Journal of Clinical Investigation | 2006 | 840 |
| 11 | Oesophageal cancer | Lancet, The | 2017 | 796 |
| 12 | EFNS guidelines on pharmacological treatment of neuropathic pain | European Journal of Neurology | 2006 | 770 |
| 13 | Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways | Nature Genetics | 2012 | 746 |
| 14 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | American Journal of Human Genetics | 2019 | 711 |
| 15 | Oesophageal cancer | Nature Reviews Disease Primers | 2017 | 671 |
| 16 | MicroRNAs: Novel Regulators Involved in the Pathogenesis of Psoriasis? | PLoS ONE | 2007 | 642 |
| 17 | Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts | Gut | 2013 | 630 |
| 18 | Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology | Nature Genetics | 2021 | 629 |
| 19 | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types | Nature Genetics | 2009 | 572 |
| 20 | Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche | Nature | 2014 | 548 |
| 21 | Non-CpG Methylation of the PGC-1α Promoter through DNMT3B Controls Mitochondrial Density | Cell Metabolism | 2009 | 530 |
| 22 | Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer | Nature Genetics | 2015 | 513 |
| 23 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 24 | Long term exposure to ambient air pollution and incidence of acute coronary events: prospective cohort study and meta-analysis in 11 European cohorts from the ESCAPE Project | BMJ, The | 2014 | 481 |
| 25 | A Spatiotemporal Organ-Wide Gene Expression and Cell Atlas of the Developing Human Heart | Cell | 2019 | 470 |
| 26 | Unimolecular Dual Incretins Maximize Metabolic Benefits in Rodents, Monkeys, and Humans | Science Translational Medicine | 2013 | 461 |
| 27 | Mitochondrial adaptations and dysfunctions in nonalcoholic fatty liver disease | Hepatology | 2013 | 454 |
| 28 | CD47-blocking antibodies restore phagocytosis and prevent atherosclerosis | Nature | 2016 | 443 |
| 29 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | Nature Genetics | 2017 | 443 |
| 30 | Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 | Nature Genetics | 2009 | 434 |
| 31 | Value of quantitative sensory testing in neurological and pain disorders: NeuPSIG consensus | Pain | 2013 | 428 |
| 32 | Stabilization of HIF-1α is critical to improve wound healing in diabetic mice | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 416 |
| 33 | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database | Gut | 2017 | 411 |
| 34 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | Nature Genetics | 2014 | 410 |
| 35 | Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database | Gut | 2018 | 410 |
| 36 | Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | 2011 | 394 |
| 37 | The Epidemiology of Esophageal Adenocarcinoma | Gastroenterology | 2018 | 389 |
| 38 | Acute First-Time Hamstring Strains during High-Speed Running | American Journal of Sports Medicine | 2007 | 388 |
| 39 | Incidence, prevalence and risk factors for peritoneal carcinomatosis from colorectal cancer | British Journal of Surgery | 2012 | 374 |
| 40 | Genome-wide association studies identify four ER negative–specific breast cancer risk loci | Nature Genetics | 2013 | 374 |
| 41 | Breast Cancer in Young Women: Poor Survival Despite Intensive Treatment | PLoS ONE | 2009 | 371 |
| 42 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | Nature Genetics | 2016 | 362 |
| 43 | Urinary Incontinence and Erectile Dysfunction After Robotic Versus Open Radical Prostatectomy: A Prospective, Controlled, Nonrandomised Trial | European Urology | 2015 | 347 |
| 44 | Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes | Diabetes | 2011 | 335 |
| 45 | Muscle strength and hop performance criteria prior to return to sports after ACL reconstruction | Knee Surgery, Sports Traumatology, Arthroscopy | 2011 | 329 |
| 46 | Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis | PLoS Medicine | 2016 | 324 |
| 47 | The Swedish Twin Registry in the Third Millennium: An Update | Twin Research and Human Genetics | 2006 | 323 |
| 48 | Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer | Nature Genetics | 2009 | 321 |
| 49 | Abdominal aortic aneurysms | Nature Reviews Disease Primers | 2018 | 312 |
| 50 | Prostate cancer screening in men aged 50–69 years (STHLM3): a prospective population-based diagnostic study | Lancet Oncology, The | 2015 | 308 |
