| # | Title | Journal | Year | Citations |
|---|
| 1 | Interaction Between the Serotonin Transporter Gene (5-HTTLPR), Stressful Life Events, and Risk of Depression | JAMA - Journal of the American Medical Association | 2009 | 1,475 |
| 2 | Great ape genetic diversity and population history | Nature | 2013 | 768 |
| 3 | SIRT3 Deficiency and Mitochondrial Protein Hyperacetylation Accelerate the Development of the Metabolic Syndrome | Molecular Cell | 2011 | 691 |
| 4 | Multi-platform discovery of haplotype-resolved structural variation in human genomes | Nature Communications | 2019 | 636 |
| 5 | Incomplete DNA methylation underlies a transcriptional memory of somatic cells in human iPS cells | Nature Cell Biology | 2011 | 529 |
| 6 | Massively parallel functional dissection of mammalian enhancers in vivo | Nature Biotechnology | 2012 | 468 |
| 7 | Assembly and diploid architecture of an individual human genome via single-molecule technologies | Nature Methods | 2015 | 465 |
| 8 | Genomic evidence for the Pleistocene and recent population history of Native Americans | Science | 2015 | 449 |
| 9 | A brief history of human disease genetics | Nature | 2020 | 441 |
| 10 | A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens | Cell | 2019 | 379 |
| 11 | The UCSC Genome Browser database: 2016 update | Nucleic Acids Research | 2016 | 376 |
| 12 | Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice | Nature | 2012 | 364 |
| 13 | Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene | PLoS Genetics | 2009 | 335 |
| 14 | Tissue signals imprint ILC2 identity with anticipatory function | Nature Immunology | 2018 | 329 |
| 15 | Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation | Nature Genetics | 2017 | 281 |
| 16 | Variant Interpretation: Functional Assays to the Rescue | American Journal of Human Genetics | 2017 | 275 |
| 17 | An optimized library for reference-based deconvolution of whole-blood biospecimens assayed using the Illumina HumanMethylationEPIC BeadArray | Genome Biology | 2018 | 245 |
| 18 | A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity | Genome Research | 2017 | 244 |
| 19 | A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry | Nature Genetics | 2013 | 232 |
| 20 | CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency | Science | 2019 | 230 |
| 21 | Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model | Nature Genetics | 2013 | 226 |
| 22 | PCA-Correlated SNPs for Structure Identification in Worldwide Human Populations | PLoS Genetics | 2007 | 224 |
| 23 | A large electronic-health-record-based genome-wide study of serum lipids | Nature Genetics | 2018 | 224 |
| 24 | Global absence and targeting of protective immune states in severe COVID-19 | Nature | 2021 | 206 |
| 25 | Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array | Genomics | 2011 | 186 |
| 26 | Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans | American Journal of Human Genetics | 2007 | 168 |
| 27 | Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels | American Journal of Human Genetics | 2007 | 160 |
| 28 | Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia | American Journal of Human Genetics | 2007 | 156 |
| 29 | Profile Hidden Markov Models for the Detection of Viruses within Metagenomic Sequence Data | PLoS ONE | 2014 | 153 |
| 30 | Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution | Nature Communications | 2019 | 152 |
| 31 | Integrating Diverse Datasets Improves Developmental Enhancer Prediction | PLoS Computational Biology | 2014 | 149 |
| 32 | Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate De Novo Sequence Assembly of the Complex Aegilops tauschii Genome | PLoS ONE | 2013 | 146 |
| 33 | Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution | PLoS Genetics | 2013 | 145 |
| 34 | CDKN2ALoss Is Associated With Shortened Overall Survival in Lower-Grade (World Health Organization Grades II–III) Astrocytomas | Journal of Neuropathology and Experimental Neurology | 2015 | 144 |
| 35 | Inconsistencies in Neanderthal Genomic DNA Sequences | PLoS Genetics | 2007 | 140 |
| 36 | Sex-Biased Evolutionary Forces Shape Genomic Patterns of Human Diversity | PLoS Genetics | 2008 | 139 |
| 37 | A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci | Genetics | 2018 | 131 |
| 38 | Dietary Omega-3 Fatty Acids, Cyclooxygenase-2 Genetic Variation, and Aggressive Prostate Cancer Risk | Clinical Cancer Research | 2009 | 126 |
| 39 | Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25 | Nature Communications | 2014 | 123 |
| 40 | A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females | Nature Communications | 2015 | 122 |
| 41 | Estimating genotype error rates from high-coverage next-generation sequence data | Genome Research | 2014 | 121 |
| 42 | Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study | Molecular Psychiatry | 2017 | 118 |
| 43 | Characterizing Genetic Risk at Known Prostate Cancer Susceptibility Loci in African Americans | PLoS Genetics | 2011 | 117 |
| 44 | Heterogeneity in Genetic Admixture across Different Regions of Argentina | PLoS ONE | 2012 | 117 |
| 45 | Detecting Ancient Admixture and Estimating Demographic Parameters in Multiple Human Populations | Molecular Biology and Evolution | 2009 | 113 |
| 46 | The role of exome sequencing in newborn screening for inborn errors of metabolism | Nature Medicine | 2020 | 112 |
| 47 | Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management | Journal of Allergy and Clinical Immunology | 2009 | 110 |
| 48 | Cell-type-specific 3D epigenomes in the developing human cortex | Nature | 2020 | 110 |
| 49 | IGF-1, IGFBP-1, and IGFBP-3 Polymorphisms Predict Circulating IGF Levels but Not Breast Cancer Risk: Findings from the Breast and Prostate Cancer Cohort Consortium (BPC3) | PLoS ONE | 2008 | 106 |
| 50 | Disease and treatment characteristics do not predict symptom occurrence profiles in oncology outpatients receiving chemotherapy | Cancer | 2014 | 96 |
