| # | Title | Journal | Year | Citations |
|---|
| 1 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Genetics in Medicine | 2015 | 20,455 |
| 2 | Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies | Genetics | 2003 | 6,870 |
| 3 | Global variation in copy number in the human genome | Nature | 2006 | 3,831 |
| 4 | Inferring weak population structure with the assistance of sample group information | Molecular Ecology Resources | 2009 | 2,931 |
| 5 | Inference of population structure using multilocus genotype data: dominant markers and null alleles | Molecular Ecology Notes | 2007 | 2,900 |
| 6 | Genome-wide efficient mixed-model analysis for association studies | Nature Genetics | 2012 | 2,577 |
| 7 | Strong Association of De Novo Copy Number Mutations with Autism | Science | 2007 | 2,497 |
| 8 | Genetic Structure of Human Populations | Science | 2002 | 2,434 |
| 9 | RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays | Genome Research | 2008 | 2,393 |
| 10 | A Map of Recent Positive Selection in the Human Genome | PLoS Biology | 2006 | 2,329 |
| 11 | Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data | PLoS Genetics | 2012 | 1,997 |
| 12 | Geometric cues for directing the differentiation of mesenchymal stem cells | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 1,598 |
| 13 | Fast and accurate genotype imputation in genome-wide association studies through pre-phasing | Nature Genetics | 2012 | 1,592 |
| 14 | A gene-based association method for mapping traits using reference transcriptome data | Nature Genetics | 2015 | 1,473 |
| 15 | Genotype imputation for genome-wide association studies | Nature Reviews Genetics | 2010 | 1,408 |
| 16 | Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus | Nature Genetics | 2000 | 1,403 |
| 17 | Convergent adaptation of human lactase persistence in Africa and Europe | Nature Genetics | 2007 | 1,375 |
| 18 | Evolutionary and Biomedical Insights from the Rhesus Macaque Genome | Science | 2007 | 1,283 |
| 19 | Expanded encyclopaedias of DNA elements in the human and mouse genomes | Nature | 2020 | 1,252 |
| 20 | Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci | Neuron | 2015 | 1,219 |
| 21 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | Nature | 2016 | 1,216 |
| 22 | Understanding mechanisms underlying human gene expression variation with RNA sequencing | Nature | 2010 | 1,200 |
| 23 | Ancient human genomes suggest three ancestral populations for present-day Europeans | Nature | 2014 | 1,179 |
| 24 | Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE | Science | 2010 | 1,124 |
| 25 | A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes | Science | 2012 | 1,095 |
| 26 | Obesity-associated variants within FTO form long-range functional connections with IRX3 | Nature | 2014 | 1,079 |
| 27 | The Broad Scope of Health Effects from Chronic Arsenic Exposure: Update on a Worldwide Public Health Problem | Environmental Health Perspectives | 2013 | 1,033 |
| 28 | Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine | Nature Biotechnology | 2011 | 955 |
| 29 | Traces of Human Migrations in Helicobacter pylori Populations | Science | 2003 | 922 |
| 30 | PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice | Science | 2010 | 893 |
| 31 | Genotype Imputation with Thousands of Genomes | G3: Genes, Genomes, Genetics | 2011 | 869 |
| 32 | The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation | Current Biology | 2010 | 853 |
| 33 | Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap | Science | 2018 | 851 |
| 34 | Genome evolution in the allotetraploid frog Xenopus laevis | Nature | 2016 | 849 |
| 35 | Tracing European Founder Lineages in the Near Eastern mtDNA Pool | American Journal of Human Genetics | 2000 | 837 |
| 36 | Genetic Determinants of the Gut Microbiome in UK Twins | Cell Host and Microbe | 2016 | 831 |
| 37 | Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24 | Nature Genetics | 2007 | 818 |
| 38 | Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder | Science | 2018 | 805 |
| 39 | DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines | Genome Biology | 2011 | 754 |
| 40 | A common variant associated with prostate cancer in European and African populations | Nature Genetics | 2006 | 738 |
| 41 | Allegro, a new computer program for multipoint linkage analysis | Nature Genetics | 2000 | 737 |
| 42 | Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations | Nature Genetics | 2011 | 736 |
| 43 | Reconstructing Native American population history | Nature | 2012 | 699 |
| 44 | Efficient multivariate linear mixed model algorithms for genome-wide association studies | Nature Methods | 2014 | 698 |
| 45 | Polygenic Modeling with Bayesian Sparse Linear Mixed Models | PLoS Genetics | 2013 | 686 |
| 46 | An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia | Science | 2011 | 675 |
| 47 | Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes | Nature Genetics | 2007 | 670 |
| 48 | Signals of recent positive selection in a worldwide sample of human populations | Genome Research | 2009 | 658 |
| 49 | Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans | Nature Genetics | 2002 | 647 |
| 50 | Microduplications of 16p11.2 are associated with schizophrenia | Nature Genetics | 2009 | 646 |
