| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012 | 17080 | 2012 |
| A user’s guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium PLoS Biol 9 (4), e1001046, 2011 | 1478 | 2011 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 962 | 2017 |
| Unsupervised pattern discovery in human chromatin structure through genomic segmentation MM Hoffman, OJ Buske, J Wang, Z Weng, JA Bilmes, WS Noble Nature Methods 9 (5), 473-476, 2012 | 732 | 2012 |
| The Matchmaker Exchange: A platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human Mutation 36 (10), 915-921, 2015 | 507 | 2015 |
| Next-generation diagnostics and disease-gene discovery with the Exomiser D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ... Nature protocols 10 (12), 2004-2015, 2015 | 379 | 2015 |
| 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 | 166 | 2021 |
| iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data AM Mezlini, EJM Smith, M Fiume, O Buske, GL Savich, S Shah, S Aparicio, ... Genome research 23 (3), 519-529, 2013 | 164 | 2013 |
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ... Human mutation 36 (10), 931-940, 2015 | 140 | 2015 |
| Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging V Labrie, OJ Buske, E Oh, R Jeremian, C Ptak, G Gasiūnas, A Maleckas, ... Nature structural & molecular biology 23 (6), 566-573, 2016 | 109 | 2016 |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 107 | 2016 |
| Identification of deleterious synonymous variants in human genomes OJ Buske, AK Manickaraj, S Mital, PN Ray, M Brudno Bioinformatics 29 (15), 1843-1850, 2013 | 103 | 2013 |
| Matchmaker exchange NLM Sobreira, H Arachchi, OJ Buske, JX Chong, B Hutton, J Foreman, ... Current protocols in human genetics 95 (1), 9.31. 1-9.31. 15, 2017 | 90 | 2017 |
| The GA4GH Phenopacket schema defines a computable representation of clinical data JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... Nature biotechnology 40 (6), 817-820, 2022 | 75 | 2022 |
| Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ... Genetics in Medicine 24 (6), 1336-1348, 2022 | 64 | 2022 |
| Mondo: Unifying diseases for the world, by the world NA Vasilevsky, NA Matentzoglu, S Toro, JE Flack IV, H Hegde, DR Unni, ... MedRxiv, 2022.04. 13.22273750, 2022 | 64 | 2022 |
| The Matchmaker Exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles OJ Buske, F Schiettecatte, B Hutton, S Dumitriu, A Misyura, L Huang, ... Human mutation 36 (10), 922-927, 2015 | 59 | 2015 |
| PubCaseFinder: A case-report-based, phenotype-driven differential-diagnosis system for rare diseases T Fujiwara, Y Yamamoto, JD Kim, O Buske, T Takagi The American Journal of Human Genetics 103 (3), 389-399, 2018 | 43 | 2018 |
| The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases S Laurie, D Piscia, L Matalonga, A Corvó, M Fernández‐Callejo, ... Human mutation 43 (6), 717-733, 2022 | 40 | 2022 |
| Encoding clinical data with the human phenotype ontology for computational differential diagnostics S Köhler, NC Øien, OJ Buske, T Groza, JOB Jacobsen, C McNamara, ... Current protocols in human genetics 103 (1), e92, 2019 | 37 | 2019 |
Michael BrudnoProfessor of Computer Science, University of Toronto; Chief Data Scientist, UHNGeverifieerd e-mailadres voor cs.toronto.edu
