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 | 8214 | 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 | 1180 | 2019 |
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 | 832 | 2021 |
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 | 412 | 2024 |
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 | 301 | 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 | 239 | 2022 |
Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP. B capsids Q Huang, KY Chan, IG Tobey, YA Chan, T Poterba, CL Boutros, ... PloS one 14 (11), e0225206, 2019 | 223 | 2019 |
Transcript expression-aware annotation improves rare variant interpretation BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ... Nature 581 (7809), 452-458, 2020 | 192 | 2020 |
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals P Natarajan, GM Peloso, SM Zekavat, M Montasser, A Ganna, M Chaffin, ... Nature communications 9 (1), 3391, 2018 | 174 | 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 | 170 | 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 | 123 | |
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population A Ganna, G Genovese, DP Howrigan, A Byrnes, MI Kurki, SM Zekavat, ... Nature neuroscience 19 (12), 1563-1565, 2016 | 116 | 2016 |
Loss landscapes of regularized linear autoencoders D Kunin, J Bloom, A Goeva, C Seed International conference on machine learning, 3560-3569, 2019 | 108 | 2019 |
Deep coverage whole genome sequences and plasma lipoprotein (a) in individuals of European and African ancestries SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, ... Nature communications 9 (1), 2606, 2018 | 107 | 2018 |
Method and apparatus for optimizing code WL Harrison III, C Seed US Patent 7,140,006, 2006 | 84 | 2006 |
A link-splitting spectral sequence in Khovanov homology J Batson, C Seed | 67 | 2015 |
Curl: a gentle slope language for the Web. M Hostetter, DA Kranz, C Seed, C Terman, S Ward World Wide Web J. 2, 121-134, 1997 | 56 | 1997 |
A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 47 | 2023 |
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ... Nature 597 (7874), E3-E4, 2021 | 44 | 2021 |
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues M D’Antonio, JP Nguyen, TD Arthur, H Matsui, BM Neale, M Daly, ... Cell reports 37 (7), 2021 | 39 | 2021 |