| HGVS recommendations for the description of sequence variants: 2016 update JT Den Dunnen, R Dalgleish, DR Maglott, RK Hart, MS Greenblatt, ... Human mutation 37 (6), 564-569, 2016 | 1632 | 2016 |
| Analysis and application of potential energy smoothing and search methods for global optimization RV Pappu, RK Hart, JW Ponder The Journal of Physical Chemistry B 102 (48), 9725-9742, 1998 | 308 | 1998 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 190 | 2021 |
| Functional characterization of the Bcl-2 gene family in the zebrafish E Kratz, PM Eimon, K Mukhyala, H Stern, J Zha, A Strasser, R Hart, ... Cell Death & Differentiation 13 (10), 1631-1640, 2006 | 162 | 2006 |
| VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions PJ Freeman, RK Hart, LJ Gretton, AJ Brookes, R Dalgleish Human mutation 39 (1), 61-68, 2018 | 139 | 2018 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 127 | 2014 |
| Somatic cancer variant curation and harmonization through consensus minimum variant level data DI Ritter, S Roychowdhury, A Roy, S Rao, MJ Landrum, D Sonkin, ... Genome Medicine 8, 1-9, 2016 | 68 | 2016 |
| Exploring the similarities between potential smoothing and simulated annealing RK Hart, RV Pappu, JW Ponder Journal of Computational Chemistry 21 (7), 531-552, 2000 | 41 | 2000 |
| The GA4GH variation representation specification: a computational framework for variation representation and federated identification AH Wagner, L Babb, G Alterovitz, M Baudis, M Brush, DL Cameron, ... Cell genomics 1 (2), 2021 | 40 | 2021 |
| Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13 JH Eubanks, L Selleri, R Hart, C Rosette, GA Evans Genomics 11 (3), 720-729, 1991 | 40 | 1991 |
| A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature RK Hart, R Rico, E Hare, J Garcia, J Westbrook, VA Fusaro Bioinformatics 31 (2), 268-270, 2015 | 39 | 2015 |
| Systematic and fully automated identification of protein sequence patterns RK Hart, AK Royyuru, G Stolovitzky, A Califano Journal of Computational Biology 7 (3-4), 585-600, 2000 | 33 | 2000 |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology 25 (1), 53, 2024 | 26 | 2024 |
| hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update M Wang, KM Callenberg, R Dalgleish, A Fedtsov, NK Fox, PJ Freeman, ... Human mutation 39 (12), 1803-1813, 2018 | 23 | 2018 |
| Systematic and automated discovery of patterns in PROSITE families R Hart, AK Royyuru, G Stolovitzky, A Califano Proceedings of the fourth annual international conference on Computational …, 2000 | 20 | 2000 |
| SeqRepo: A system for managing local collections of biological sequences RK Hart, A Prlić PLoS One 15 (12), e0239883, 2020 | 11 | 2020 |
| ESICM LIVES 2016: part three: Milan, Italy. 1–5 October 2016 T Velasquez, G Mackey, J Lusk, UG Kyle, T Fontenot, P Marshall, ... Intensive Care Medicine Experimental 4, 405-607, 2016 | 9 | 2016 |
| Unison: an integrated platform for computational biology discovery RK Hart, K Mukhyala Biocomputing 2009, 403-414, 2009 | 7 | 2009 |
| Development and application of a computable genotype model in the GA4GH Variation Representation Specification W Goar, L Babb, S Chamala, M Cline, RR Freimuth, RK Hart, K Kuzma, ... PACIFIC SYMPOSIUM ON BIOCOMPUTING 2023: Kohala Coast, Hawaii, USA, 3–7 …, 2022 | 6 | 2022 |
| Pathogenicity interpretation in the Age of precision medicine: the 2015 annual scientific meeting of the human genome variation society WS Oetting, SE Brenner, AJ Brookes, MS Greenblatt, RK Hart, R Karchin, ... Human mutation 37 (4), 406, 2016 | 6 | 2016 |