| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 865 | 2021 |
| 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 | 742 | 2019 |
| The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020 | 244 | 2020 |
| Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes JT Reese, H Blau, E Casiraghi, T Bergquist, JJ Loomba, TJ Callahan, ... EBioMedicine 87, 2023 | 132 | 2023 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 97 | 2024 |
| Interpretable clinical genomics with a likelihood ratio paradigm PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ... The American Journal of Human Genetics 107 (3), 403-417, 2020 | 89 | 2020 |
| 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 | 88 | 2022 |
| shinyGEO: a web-based application for analyzing gene expression omnibus datasets J Dumas, MA Gargano, GM Dancik Bioinformatics 32 (23), 3679-3681, 2016 | 79 | 2016 |
| Interpretable prioritization of splice variants in diagnostic next-generation sequencing D Danis, JOB Jacobsen, LC Carmody, MA Gargano, JA McMurry, ... The American Journal of Human Genetics 108 (9), 1564-1577, 2021 | 60 | 2021 |
| 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 | 39 | 2019 |
| Metformin is associated with reduced COVID-19 severity in patients with prediabetes LE Chan, E Casiraghi, B Laraway, B Coleman, H Blau, A Zaman, ... Diabetes research and clinical practice 194, 110157, 2022 | 16 | 2022 |
| GA4GH phenopackets: A practical introduction MS Ladewig, JOB Jacobsen, AH Wagner, D Danis, B El Kassaby, ... Advanced Genetics 4 (1), 2200016, 2023 | 10 | 2023 |
| Computational processing and quality control of Hi-C, capture Hi-C and Capture-C data P Hansen, M Gargano, J Hecht, J Ibn-Salem, G Karlebach, JT Roehr, ... Genes 10 (7), 548, 2019 | 8 | 2019 |
| The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease LC Carmody, MA Gargano, S Toro, NA Vasilevsky, MP Adam, H Blau, ... Med 4 (12), 913-927. e3, 2023 | 6 | 2023 |
| De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy JC Sundaramurthi, AM Bagley, H Blau, L Carmody, A Crandall, D Danis, ... Molecular Case Studies 9 (4), a006293, 2023 | 4 | 2023 |
| An online tool for biomarker analysis in Gene Expression Omnibus (GEO) datasets J Dumas, M Gargano, GM Dancik Cancer Research 76 (14_Supplement), 5292-5292, 2016 | 4 | 2016 |
| Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease E Niyonkuru, JH Caufield, LC Carmody, MA Gargano, S Toro, PL Whetzel, ... medRxiv, 2024 | | 2024 |
| The Human Phenotype Ontology in 2024: phenotypes around the world. P Talapova, MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic Acids Research, Oxford University Press, 2023 | | 2023 |
| De novo JC Sundaramurthi, AM Bagley, H Blau, L Carmody, A Crandall, D Danis, ... Cold Spring Harb Mol Case Stud 9 (4), 2023 | | 2023 |
| Daniel Danis, Julius OB Jacobsen, 2 Leigh C. Carmody, Michael A. Gargano, Julie A. McMurry, 3 A Hegde, MA Haendel, G Valentini, D Smedley, PN Robinson The American Journal of Human Genetics 108, 1564-1577, 2021 | | 2021 |
