| # | Title | Journal | Year | Citations |
|---|
| 1 | Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1 | Cancer Cell | 2010 | 6,138 |
| 2 | The Somatic Genomic Landscape of Glioblastoma | Cell | 2013 | 3,979 |
| 3 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,421 |
| 4 | An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics | Cell | 2018 | 2,277 |
| 5 | Identification of a CpG Island Methylator Phenotype that Defines a Distinct Subgroup of Glioma | Cancer Cell | 2010 | 2,078 |
| 6 | Schizophrenia as a Complex Trait | Archives of General Psychiatry | 2003 | 1,976 |
| 7 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | Nature Genetics | 2019 | 1,962 |
| 8 | Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer | Cell | 2017 | 1,742 |
| 9 | Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer | Cell | 2018 | 1,718 |
| 10 | Comprehensive genomic profiles of small cell lung cancer | Nature | 2015 | 1,634 |
| 11 | REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 1,555 |
| 12 | Identification of common genetic risk variants for autism spectrum disorder | Nature Genetics | 2019 | 1,538 |
| 13 | Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer | Cell | 2015 | 1,485 |
| 14 | Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia | Cell | 1997 | 1,435 |
| 15 | The Microbiome and Butyrate Regulate Energy Metabolism and Autophagy in the Mammalian Colon | Cell Metabolism | 2011 | 1,424 |
| 16 | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics | Genetics in Medicine | 2017 | 1,398 |
| 17 | Proteogenomics connects somatic mutations to signalling in breast cancer | Nature | 2016 | 1,384 |
| 18 | Identification of Genes Periodically Expressed in the Human Cell Cycle and Their Expression in Tumors | Molecular Biology of the Cell | 2002 | 1,352 |
| 19 | Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use | Nature Genetics | 2019 | 1,307 |
| 20 | Identification of conserved gene expression features between murine mammary carcinoma models and human breast tumors | Genome Biology | 2007 | 1,009 |
| 21 | Gene expression elucidates functional impact of polygenic risk for schizophrenia | Nature Neuroscience | 2016 | 952 |
| 22 | Candidate gene studies of ADHD: a meta-analytic review | Human Genetics | 2009 | 871 |
| 23 | Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects | Nature Genetics | 2017 | 838 |
| 24 | ACMG clinical laboratory standards for next-generation sequencing | Genetics in Medicine | 2013 | 794 |
| 25 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Nature Genetics | 2017 | 783 |
| 26 | The chromatin accessibility landscape of primary human cancers | Science | 2018 | 781 |
| 27 | Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways | Nature Genetics | 2012 | 746 |
| 28 | A Consensus Molecular Classification of Muscle-invasive Bladder Cancer | European Urology | 2020 | 741 |
| 29 | Intrinsic subtypes of high-grade bladder cancer reflect the hallmarks of breast cancer biology | Proceedings of the National Academy of Sciences of the United States of America | 2014 | 736 |
| 30 | ChIP–seq and beyond: new and improved methodologies to detect and characterize protein–DNA interactions | Nature Reviews Genetics | 2012 | 692 |
| 31 | A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms | Genetic Epidemiology | 2008 | 646 |
| 32 | Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa | Nature Genetics | 2019 | 641 |
| 33 | Wild Mouse Gut Microbiota Promotes Host Fitness and Improves Disease Resistance | Cell | 2017 | 603 |
| 34 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture | Nature Genetics | 2013 | 578 |
| 35 | A map of open chromatin in human pancreatic islets | Nature Genetics | 2010 | 515 |
| 36 | Evaluating the comparability of gene expression in blood and brain | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | 2006 | 512 |
| 37 | Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array | Nature Genetics | 2013 | 492 |
| 38 | SOX2 is a dose-dependent regulator of retinal neural progenitor competence | Genes and Development | 2006 | 482 |
| 39 | Severe Acute Respiratory Syndrome Coronavirus ORF6 Antagonizes STAT1 Function by Sequestering Nuclear Import Factors on the Rough Endoplasmic Reticulum/Golgi Membrane | Journal of Virology | 2007 | 472 |
| 40 | Prevalence, Heritability, and Prospective Risk Factors for Anorexia Nervosa | Archives of General Psychiatry | 2006 | 456 |
| 41 | Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time | Genetics in Medicine | 2011 | 451 |
| 42 | Comparative genetic architectures of schizophrenia in East Asian and European populations | Nature Genetics | 2019 | 440 |
| 43 | Subspecific origin and haplotype diversity in the laboratory mouse | Nature Genetics | 2011 | 439 |
| 44 | Integrative Molecular Characterization of Malignant Pleural Mesothelioma | Cancer Discovery | 2018 | 422 |
| 45 | Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource | American Journal of Human Genetics | 2017 | 403 |
| 46 | Toll-Like Receptor 3 Signaling via TRIF Contributes to a Protective Innate Immune Response to Severe Acute Respiratory Syndrome Coronavirus Infection | MBio | 2015 | 390 |
| 47 | Heritability and genomics of gene expression in peripheral blood | Nature Genetics | 2014 | 370 |
| 48 | Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci | Nature Genetics | 2015 | 365 |
| 49 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | Nature Genetics | 2016 | 362 |
| 50 | Topoisomerases facilitate transcription of long genes linked to autism | Nature | 2013 | 360 |
