| # | Title | Journal | Year | Citations |
|---|
| 1 | Analysis of protein-coding genetic variation in 60,706 humans | Nature | 2016 | 9,051 |
| 2 | Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) | Autophagy | 2016 | 4,701 |
| 3 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 4 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 5 | Guidelines for the use and interpretation of assays for monitoring autophagy | Autophagy | 2012 | 3,122 |
| 6 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 7 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 8 | A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants | Science | 2007 | 2,534 |
| 9 | Bone marrow stromal cells attenuate sepsis via prostaglandin E2–dependent reprogramming of host macrophages to increase their interleukin-10 production | Nature Medicine | 2009 | 2,165 |
| 10 | Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study | Lancet, The | 2012 | 1,937 |
| 11 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
| 12 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 13 | Meta-analysis of the heritability of human traits based on fifty years of twin studies | Nature Genetics | 2015 | 1,750 |
| 14 | Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer | Breast Cancer Research | 2010 | 1,748 |
| 15 | MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes | Genetic Epidemiology | 2010 | 1,718 |
| 16 | Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes | Nature Genetics | 2008 | 1,683 |
| 17 | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | Nature Genetics | 2010 | 1,631 |
| 18 | Integrative approaches for large-scale transcriptome-wide association studies | Nature Genetics | 2016 | 1,618 |
| 19 | An epigenetic biomarker of aging for lifespan and healthspan | Aging | 2018 | 1,552 |
| 20 | A General Model for the Genetic Analysis of Pedigree Data | Human Heredity | 1971 | 1,541 |
| 21 | Virtual microdissection identifies distinct tumor- and stroma-specific subtypes of pancreatic ductal adenocarcinoma | Nature Genetics | 2015 | 1,491 |
| 22 | Newly identified loci that influence lipid concentrations and risk of coronary artery disease | Nature Genetics | 2008 | 1,488 |
| 23 | Genome-wide association analysis identifies 13 new risk loci for schizophrenia | Nature Genetics | 2013 | 1,395 |
| 24 | Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps | Nature Genetics | 2018 | 1,331 |
| 25 | New genetic loci link adipose and insulin biology to body fat distribution | Nature | 2015 | 1,328 |
| 26 | Common variants at 30 loci contribute to polygenic dyslipidemia | Nature Genetics | 2009 | 1,234 |
| 27 | SOX2 Functions to Maintain Neural Progenitor Identity | Neuron | 2003 | 1,169 |
| 28 | Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes | Nature Genetics | 2018 | 1,124 |
| 29 | Individuality in gut microbiota composition is a complex polygenic trait shaped by multiple environmental and host genetic factors | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 1,113 |
| 30 | Genome-wide association study identifies eight loci associated with blood pressure | Nature Genetics | 2009 | 1,104 |
| 31 | Genome-wide meta-analyses identify multiple loci associated with smoking behavior | Nature Genetics | 2010 | 1,083 |
| 32 | Genome remodelling in a basal-like breast cancer metastasis and xenograft | Nature | 2010 | 1,077 |
| 33 | Allele-specific copy number analysis of tumors | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 979 |
| 34 | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility | Nature Genetics | 2014 | 959 |
| 35 | The genetic architecture of type 2 diabetes | Nature | 2016 | 952 |
| 36 | Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma | Modern Pathology | 2006 | 932 |
| 37 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia | Nature | 2022 | 929 |
| 38 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution | Nature Genetics | 2010 | 836 |
| 39 | Practical innovations for high-throughput amplicon sequencing | Nature Methods | 2013 | 787 |
| 40 | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance | Nature Genetics | 2012 | 762 |
| 41 | Common variants associated with plasma triglycerides and risk for coronary artery disease | Nature Genetics | 2013 | 754 |
| 42 | Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function | Nature Genetics | 2005 | 695 |
| 43 | piRNAs Can Trigger a Multigenerational Epigenetic Memory in the Germline of C. elegans | Cell | 2012 | 673 |
| 44 | Root microbiota drive direct integration of phosphate stress and immunity | Nature | 2017 | 669 |
| 45 | Variants in MTNR1B influence fasting glucose levels | Nature Genetics | 2009 | 662 |
| 46 | Microduplications of 16p11.2 are associated with schizophrenia | Nature Genetics | 2009 | 646 |
| 47 | SOX2, a Persistent Marker for Multipotential Neural Stem Cells Derived from Embryonic Stem Cells, the Embryo or the Adult | Developmental Neuroscience | 2004 | 625 |
| 48 | An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans | Diabetes | 2017 | 615 |
| 49 | Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge | Nature Genetics | 2010 | 591 |
| 50 | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction | Nature | 2015 | 581 |
