| Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 7146 | 2016 |
| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68-74, 2015 | 7066 | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56-65, 2012 | 6760 | 2012 |
| The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans GTEx Consortium Science 348 (6235), 648-660, 2015 | 2774 | 2015 |
| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, P Ac‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 1484 | 2013 |
| Genetic effects on gene expression across human tissues GTEx Consortium Nature 550 (7675), 204-213, 2017 | 1440 | 2017 |
| The UK10K project identifies rare variants in health and disease UK10K consortium Nature 526 (7571), 82-90, 2015 | 714 | 2015 |
| Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... BioRxiv, 531210, 2019 | 656 | 2019 |
| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 622 | 2020 |
| High-throughput discovery of novel developmental phenotypes ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ... Nature 537 (7621), 508-514, 2016 | 481 | 2016 |
| Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS Genet 6 (2), e1000841, 2010 | 395 | 2010 |
| Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico SIGMA Type 2 Diabetes Consortium Nature 506 (7486), 97-101, 2014 | 372 | 2014 |
| The ExAC browser: displaying reference data information from over 60 000 exomes KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ... Nucleic acids research 45 (D1), D840-D845, 2017 | 325 | 2017 |
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), 2017 | 300 | 2017 |
| Distribution and medical impact of loss-of-function variants in the Finnish founder population ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ... PLoS Genet 10 (7), e1004494, 2014 | 293 | 2014 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini, GA McVean, P Donnelly, G Lunter, JL Marchini, ... Nature communications 5, 3934, 2014 | 267 | 2014 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 1-9, 2015 | 235 | 2015 |
| Dynamic landscape and regulation of RNA editing in mammals MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ... Nature 550 (7675), 249-254, 2017 | 234 | 2017 |
| Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ... Neuron 77 (2), 235-242, 2013 | 232 | 2013 |
| Quantifying prion disease penetrance using large population control cohorts EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ... Science translational medicine 8 (322), 322ra9-322ra9, 2016 | 217 | 2016 |
