| The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses DL Boone, EE Turer, EG Lee, RC Ahmad, MT Wheeler, C Tsui, P Hurley, ... Nature immunology 5 (10), 1052-1060, 2004 | 1337 | 2004 |
| Clinical assessment incorporating a personal genome EA Ashley, AJ Butte, MT Wheeler, R Chen, TE Klein, FE Dewey, ... The Lancet 375 (9725), 1525-1535, 2010 | 809 | 2010 |
| Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells F Lan, AS Lee, P Liang, V Sanchez-Freire, PK Nguyen, L Wang, L Han, ... Cell stem cell 12 (1), 101-113, 2013 | 721 | 2013 |
| Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial I Olivotto, A Oreziak, R Barriales-Villa, TP Abraham, A Masri, ... The Lancet 396 (10253), 759-769, 2020 | 698 | 2020 |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 684 | 2019 |
| Accuracy in wrist-worn, sensor-based measurements of heart rate and energy expenditure in a diverse cohort A Shcherbina, CM Mattsson, D Waggott, H Salisbury, JW Christle, ... Journal of personalized medicine 7 (2), 3, 2017 | 626 | 2017 |
| Clinical interpretation and implications of whole-genome sequencing FE Dewey, ME Grove, C Pan, BA Goldstein, JA Bernstein, H Chaib, ... Jama 311 (10), 1035-1045, 2014 | 518 | 2014 |
| Cost-effectiveness of preparticipation screening for prevention of sudden cardiac death in young athletes MT Wheeler, PA Heidenreich, VF Froelicher, MA Hlatky, EA Ashley Annals of internal medicine 152 (5), 276-286, 2010 | 329 | 2010 |
| Effect of genetic diagnosis on patients with previously undiagnosed disease K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ... New England Journal of Medicine 379 (22), 2131-2139, 2018 | 326 | 2018 |
| Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 KATP channels WA Chutkow, J Pu, MT Wheeler, T Wada, JC Makielski, CF Burant, ... The Journal of clinical investigation 110 (2), 203-208, 2002 | 307 | 2002 |
| Interpretation of the electrocardiogram of young athletes A Uberoi, R Stein, MV Perez, J Freeman, M Wheeler, F Dewey, R Peidro, ... Circulation 124 (6), 746-757, 2011 | 299 | 2011 |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 278 | 2019 |
| Challenges in the clinical application of whole-genome sequencing KE Ormond, MT Wheeler, L Hudgins, TE Klein, AJ Butte, RB Altman, ... The Lancet 375 (9727), 1749-1751, 2010 | 273 | 2010 |
| Long-read genome sequencing identifies causal structural variation in a Mendelian disease JD Merker, AM Wenger, T Sneddon, M Grove, Z Zappala, L Fresard, ... Genetics in Medicine 20 (1), 159-163, 2018 | 241 | 2018 |
| A public resource facilitating clinical use of genomes MP Ball, JV Thakuria, AW Zaranek, T Clegg, AM Rosenbaum, X Wu, ... Proceedings of the National Academy of Sciences 109 (30), 11920-11927, 2012 | 225 | 2012 |
| Effect of moderate-intensity exercise training on peak oxygen consumption in patients with hypertrophic cardiomyopathy: a randomized clinical trial S Saberi, M Wheeler, J Bragg-Gresham, W Hornsby, PP Agarwal, A Attili, ... Jama 317 (13), 1349-1357, 2017 | 207 | 2017 |
| Molecular transducers of physical activity consortium (MoTrPAC): mapping the dynamic responses to exercise JA Sanford, CD Nogiec, ME Lindholm, JN Adkins, D Amar, S Dasari, ... Cell 181 (7), 1464-1474, 2020 | 186 | 2020 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 182 | 2017 |
| Phased whole-genome genetic risk in a family quartet using a major allele reference sequence FE Dewey, R Chen, SP Cordero, KE Ormond, C Caleshu, KJ Karczewski, ... PLoS genetics 7 (9), e1002280, 2011 | 160 | 2011 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 158 | 2017 |
