| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8247 | 2012 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 578 | 2018 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 435 | 2014 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 434 | 2021 |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 425 | 2022 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 423 | 2013 |
| An integrative variant analysis suite for whole exome next-generation sequencing data D Challis, J Yu, US Evani, AR Jackson, S Paithankar, C Coarfa, ... BMC bioinformatics 13, 1-12, 2012 | 314 | 2012 |
| Proteomic analysis of age‐dependent changes in protein solubility identifies genes that modulate lifespan P Reis‐Rodrigues, G Czerwieniec, TW Peters, US Evani, S Alavez, ... Aging cell 11 (1), 120-127, 2012 | 185 | 2012 |
| Curated variation benchmarks for challenging medically relevant autosomal genes J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ... Nature biotechnology 40 (5), 672-680, 2022 | 123 | 2022 |
| Benchmarking challenging small variants with linked and long reads J Wagner, ND Olson, L Harris, Z Khan, J Farek, M Mahmoud, A Stankovic, ... Cell Genomics 2 (5), 2022 | 115 | 2022 |
| Recent ultra-rare inherited variants implicate new autism candidate risk genes AB Wilfert, TN Turner, SC Murali, PH Hsieh, A Sulovari, T Wang, BP Coe, ... Nature genetics 53 (8), 1125-1134, 2021 | 91 | 2021 |
| Bioinformatic tools for identifying disease gene and SNP candidates SD Mooney, VG Krishnan, US Evani Genetic Variation: Methods and Protocols, 307-319, 2010 | 75 | 2010 |
| In silico functional profiling of human disease‐associated and polymorphic amino acid substitutions M Mort, US Evani, VG Krishnan, KK Kamati, PH Baenziger, A Bagchi, ... Human Mutation 31 (3), 335-346, 2010 | 62 | 2010 |
| Atlas2 Cloud: a framework for personal genome analysis in the cloud US Evani, D Challis, J Yu, AR Jackson, S Paithankar, MN Bainbridge, ... BMC genomics 13, 1-9, 2012 | 49 | 2012 |
| Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes J Humphrey, S Venkatesh, R Hasan, JT Herb, K de Paiva Lopes, ... Nature Neuroscience 26 (1), 150-162, 2023 | 42 | 2023 |
| Tor1 regulates protein solubility in Saccharomyces cerevisiae TW Peters, MJ Rardin, G Czerwieniec, US Evani, P Reis-Rodrigues, ... Molecular biology of the cell 23 (24), 4679-4688, 2012 | 33 | 2012 |
| STOP using just GO: a multi-ontology hypothesis generation tool for high throughput experimentation T Wittkop, E TerAvest, US Evani, KM Fleisch, AE Berman, C Powell, ... BMC bioinformatics 14, 1-10, 2013 | 25 | 2013 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... | 23 | 2021 |
| An ontology-neutral framework for enrichment analysis R Tirrell, U Evani, AE Berman, SD Mooney, MA Musen, NH Shah AMIA Annual Symposium Proceedings 2010, 797, 2010 | 23 | 2010 |
| Massively parallel processing of whole genome sequence data: an in-depth performance study A Roy, Y Diao, U Evani, A Abhyankar, C Howarth, R Le Priol, T Bloom Proceedings of the 2017 ACM International Conference on Management of Data …, 2017 | 15 | 2017 |
Sean MooneyProfessor, University of WashingtonVerified email at uw.edu
