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 | 10451 | 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 | 7672 | 2020 |
Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3441 | 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 | 1175 | 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 | 893 | 2017 |
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 | 764 | 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), eaal5209, 2017 | 690 | 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 | 337 | 2020 |
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A XR Ma, M Prudencio, Y Koike, SC Vatsavayai, G Kim, F Harbinski, ... Nature 603 (7899), 124-130, 2022 | 292 | 2022 |
The genetic landscape of Diamond-Blackfan anemia JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ... The American Journal of Human Genetics 103 (6), 930-947, 2018 | 243 | 2018 |
Transcript expression-aware annotation improves rare variant interpretation BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ... Nature 581 (7809), 452-458, 2020 | 182 | 2020 |
Co-expression networks reveal the tissue-specific regulation of transcription and splicing A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ... Genome research 27 (11), 1843-1858, 2017 | 177 | 2017 |
Transcriptome variation in human tissues revealed by long-read sequencing DA Glinos, G Garborcauskas, P Hoffman, N Ehsan, L Jiang, A Gokden, ... Nature 608 (7922), 353-359, 2022 | 159 | 2022 |
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 | 143 | 2020 |
Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 120 | 2018 |
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 | 120 | |
The effect of LRRK2 loss-of-function variants in humans N Whiffin, IM Armean, A Kleinman, JL Marshall, EV Minikel, JK Goodrich, ... Nature Medicine 26 (6), 869-877, 2020 | 102 | 2020 |
A quantitative framework for characterizing the evolutionary history of mammalian gene expression J Chen, R Swofford, J Johnson, BB Cummings, N Rogel, K Lindblad-Toh, ... Genome research 29 (1), 53-63, 2019 | 101 | 2019 |
Genetic regulatory variation in populations informs transcriptome analysis in rare disease P Mohammadi, SE Castel, BB Cummings, J Einson, C Sousa, P Hoffman, ... Science 366 (6463), 351-356, 2019 | 98 | 2019 |