| 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 | 10707 | 2016 |
| 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 | 8263 | 2020 |
| Scaling accurate genetic variant discovery to tens of thousands of samples R Poplin, V Ruano-Rubio, MA DePristo, TJ Fennell, MO Carneiro, ... BioRxiv, 201178, 2017 | 1589 | 2017 |
| 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 | 1183 | 2019 |
| Landscape of X chromosome inactivation across human tissues T Tukiainen, AC Villani, A Yen, MA Rivas, JL Marshall, R Satija, M Aguirre, ... Nature 550 (7675), 244-248, 2017 | 981 | 2017 |
| A structural variation reference for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ... Nature 581 (7809), 444-451, 2020 | 870 | 2020 |
| A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024 | 460 | 2024 |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 344 | 2022 |
| A genome-wide mutational constraint map quantified from variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... BioRxiv, 2022.03. 20.485034, 2022 | 250 | 2022 |
| A synthetic-diploid benchmark for accurate variant-calling evaluation H Li, JM Bloom, Y Farjoun, M Fleharty, L Gauthier, B Neale, D MacArthur Nature methods 15 (8), 595-597, 2018 | 203 | 2018 |
| Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ... Cell Genomics 2 (9), 2022 | 177 | 2022 |
| Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes Q Wang, E Pierce-Hoffman, BB Cummings, J Alföldi, LC Francioli, ... Nature communications 11 (1), 2539, 2020 | 154 | 2020 |
| Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 590 (7846), E53-E53, 2021 | 133* | 2021 |
| Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfoldi, Q Wang, ... Nature 581 (7809), 434-443, 0 | 130 | |
| Mitochondrial DNA variation across 56,434 individuals in gnomAD KM Laricchia, NJ Lake, NA Watts, M Shand, A Haessly, L Gauthier, ... Genome research 32 (3), 569-582, 2022 | 90 | 2022 |
| An open resource of structural variation for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ... BioRxiv, 578674, 2019 | 87 | 2019 |
| Genomic data in the All of Us research program AG Bick, GA Metcalf, KR Mayo, L Lichtenstein, S Rura, RJ Carroll, ... Nature 627 (8003), 2024 | 71 | 2024 |
| Exome Aggregation C, Exome Aggregation Consortium M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Analysis of protein-coding genetic variation in 60, 285-91, 0 | 69 | |
| A computational model of reactive oxygen species and redox balance in cardiac mitochondria LD Gauthier, JL Greenstein, S Cortassa, B O’Rourke, RL Winslow Biophysical journal 105 (4), 1045-1056, 2013 | 68 | 2013 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 60 | 2022 |
