| # | Title | Journal | Year | Citations |
|---|
| 1 | CLUMPP: a cluster matching and permutation program for dealing with label switching and multimodality in analysis of population structure | Bioinformatics | 2007 | 5,408 |
| 2 | Guidelines for the use and interpretation of assays for monitoring autophagy | Autophagy | 2012 | 3,122 |
| 3 | Mutations in the p53 gene occur in diverse human tumour types | Nature | 1989 | 2,702 |
| 4 | An integrated map of structural variation in 2,504 human genomes | Nature | 2015 | 1,994 |
| 5 | Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome | Nature | 2003 | 1,925 |
| 6 | Gene tree discordance, phylogenetic inference and the multispecies coalescent | Trends in Ecology and Evolution | 2009 | 1,500 |
| 7 | Genome-wide association study identifies 30 loci associated with bipolar disorder | Nature Genetics | 2019 | 1,191 |
| 8 | Retinal repair by transplantation of photoreceptor precursors | Nature | 2006 | 999 |
| 9 | Nomenclature of Voltage-Gated Sodium Channels | Neuron | 2000 | 946 |
| 10 | Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project | Science | 2010 | 912 |
| 11 | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Nature Genetics | 2000 | 910 |
| 12 | Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family | Nature Genetics | 1997 | 859 |
| 13 | Antibiotic-induced shifts in the mouse gut microbiome and metabolome increase susceptibility to Clostridium difficile infection | Nature Communications | 2014 | 817 |
| 14 | Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region | Cell | 1991 | 810 |
| 15 | Nrl is required for rod photoreceptor development | Nature Genetics | 2001 | 795 |
| 16 | Genotype, haplotype and copy-number variation in worldwide human populations | Nature | 2008 | 780 |
| 17 | Great ape genetic diversity and population history | Nature | 2013 | 768 |
| 18 | Discordance of Species Trees with Their Most Likely Gene Trees | PLoS Genetics | 2006 | 761 |
| 19 | A common variant associated with prostate cancer in European and African populations | Nature Genetics | 2006 | 738 |
| 20 | The H-2 Major Histocompatibility Complex and the/Immune Response Region: Genetic Variation, Function, and Organization | Advances in Immunology | 1975 | 722 |
| 21 | A Cladistic Analysis of Phenotypic Associations With Haplotypes Inferred From Restriction Endonuclease Mapping. I. Basic Theory and an Analysis of Alcohol Dehydrogenase Activity in Drosophila | Genetics | 1987 | 689 |
| 22 | Isolation of a partial candidate gene for Menkes disease by positional cloning | Nature Genetics | 1993 | 688 |
| 23 | ADZE: a rarefaction approach for counting alleles private to combinations of populations | Bioinformatics | 2008 | 666 |
| 24 | Chromosome Fragile Sites | Annual Review of Genetics | 2007 | 629 |
| 25 | An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People | Science | 2012 | 626 |
| 26 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture | Nature Genetics | 2013 | 578 |
| 27 | PRIDE: The proteomics identifications database | Proteomics | 2005 | 553 |
| 28 | Biobank-driven genomic discovery yields new insight into atrial fibrillation biology | Nature Genetics | 2018 | 547 |
| 29 | Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease | American Journal of Human Genetics | 2009 | 530 |
| 30 | ATR Regulates Fragile Site Stability | Cell | 2002 | 526 |
| 31 | Genome-wide association studies in diverse populations | Nature Reviews Genetics | 2010 | 518 |
| 32 | Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome | Nature Genetics | 1997 | 511 |
| 33 | Detectable clonal mosaicism from birth to old age and its relationship to cancer | Nature Genetics | 2012 | 511 |
| 34 | Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes | Science | 1991 | 507 |
| 35 | Psychiatric genetics: progress amid controversy | Nature Reviews Genetics | 2008 | 481 |
| 36 | Quantifying changes in the thiol redox proteome upon oxidative stress in vivo | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 477 |
| 37 | Circadian patterns of gene expression in the human brain and disruption in major depressive disorder | Proceedings of the National Academy of Sciences of the United States of America | 2013 | 477 |
| 38 | A worldwide survey of haplotype variation and linkage disequilibrium in the human genome | Nature Genetics | 2006 | 474 |
| 39 | Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure | PLoS Genetics | 2005 | 473 |
| 40 | LINE-1 Elements in Structural Variation and Disease | Annual Review of Genomics and Human Genetics | 2011 | 471 |
| 41 | Genetic Variation and Population Structure in Native Americans | PLoS Genetics | 2007 | 454 |
| 42 | Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J | Nature | 2007 | 438 |
| 43 | Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease | Science | 2016 | 438 |
| 44 | Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology | Nature Genetics | 2017 | 432 |
| 45 | Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene | Science | 1998 | 418 |
| 46 | Genomic Patterns of Homozygosity in Worldwide Human Populations | American Journal of Human Genetics | 2012 | 393 |
| 47 | A p53/miRNA-34 axis regulates Snail1-dependent cancer cell epithelial–mesenchymal transition | Journal of Cell Biology | 2011 | 390 |
| 48 | Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues | Nature Genetics | 1993 | 382 |
| 49 | Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia | American Journal of Human Genetics | 2000 | 382 |
| 50 | Clinical application of exome sequencing in undiagnosed genetic conditions | Journal of Medical Genetics | 2012 | 377 |
