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 | 10687 | 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 | 8321 | 2020 |
Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1995* | 2020 |
Integrated genomic characterization of pancreatic ductal adenocarcinoma BJ Raphael, RH Hruban, AJ Aguirre, RA Moffitt, JJ Yeh, C Stewart, ... Cancer cell 32 (2), 185-203. e13, 2017 | 1742 | 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 | 1180 | 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 | 865 | 2020 |
Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes SA Shukla, MS Rooney, M Rajasagi, G Tiao, PM Dixon, MS Lawrence, ... Nature biotechnology 33 (11), 1152-1158, 2015 | 755 | 2015 |
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 | 607 | 2022 |
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes E Rheinbay, MM Nielsen, F Abascal, JA Wala, O Shapira, G Tiao, ... Nature 578 (7793), 102-111, 2020 | 585 | 2020 |
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer P Polak, J Kim, LZ Braunstein, R Karlic, NJ Haradhavala, G Tiao, ... Nature genetics 49 (10), 1476-1486, 2017 | 538 | 2017 |
Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors J Kim, KW Mouw, P Polak, LZ Braunstein, A Kamburov, G Tiao, ... Nature genetics 48 (6), 600-606, 2016 | 456 | 2016 |
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 | 437 | 2024 |
Recurrent and functional regulatory mutations in breast cancer E Rheinbay, P Parasuraman, J Grimsby, G Tiao, JM Engreitz, J Kim, ... Nature 547 (7661), 55-60, 2017 | 341 | 2017 |
Alfö ldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings Nature 581 (7809), 434-43, 2020 | 340 | 2020 |
Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution S Kasar, J Kim, R Improgo, G Tiao, P Polak, N Haradhvala, MS Lawrence, ... Nature communications 6 (1), 8866, 2015 | 299 | 2015 |
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 | 246 | 2022 |
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 | 172 | 2022 |
Landscape of genomic alterations in pituitary adenomas WL Bi, P Horowitz, NF Greenwald, M Abedalthagafi, PK Agarwalla, ... Clinical Cancer Research 23 (7), 1841-1851, 2017 | 134 | 2017 |
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 | 122 | |
Insights into the gyrification of developing ferret brain by magnetic resonance imaging J Neal, M Takahashi, M Silva, G Tiao, CA Walsh, VL Sheen Journal of anatomy 210 (1), 66-77, 2007 | 95 | 2007 |