| 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 | 7544 | 2020 |
| 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 | 1175 | 2019 |
| 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 | 776 | 2020 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 774 | 2021 |
| 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 | 758 | 2017 |
| Rare coding variants in ten genes confer substantial risk for schizophrenia T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ... Nature 604 (7906), 509-516, 2022 | 501 | 2022 |
| Variant interpretation using population databases: Lessons from gnomAD S Gudmundsson, M Singer‐Berk, NA Watts, W Phu, JK Goodrich, ... Human mutation 43 (8), 1012-1030, 2022 | 299 | 2022 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 258 | 2022 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 251 | 2019 |
| 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 | 210 | 2024 |
| 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 | 200 | 2022 |
| Transcript expression-aware annotation improves rare variant interpretation BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ... Nature 581 (7809), 452-458, 2020 | 180 | 2020 |
| Evaluating drug targets through human loss-of-function genetic variation EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ... Nature 581 (7809), 459-464, 2020 | 148 | 2020 |
| 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 | 138 | 2020 |
| Characterising the loss-of-function impact of 5’untranslated region variants in 15,708 individuals N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ... Nature communications 11 (1), 2523, 2020 | 137 | 2020 |
| 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 | 130 | 2022 |
| 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 | 119 | |
| 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 | 118* | 2021 |
| Crystal structure of sulfide: quinone oxidoreductase from Acidithiobacillus ferrooxidans: insights into sulfidotrophic respiration and detoxification MM Cherney, Y Zhang, M Solomonson, JH Weiner, MNG James Journal of molecular biology 398 (2), 292-305, 2010 | 113 | 2010 |
| A first update on mapping the human genetic architecture of COVID-19 Writing group lead Andrews Shea J. 6 Kanai Masahiro 3 Cordioli Mattia 7, ... Nature 608 (7921), E1-E10, 2022 | 112 | 2022 |
