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| shinyGEO: a web-based application for analyzing gene expression omnibus datasets J Dumas, MA Gargano, GM Dancik Bioinformatics 32 (23), 3679-3681, 2016 | 73 | 2016 |
| 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 | 68 | 2020 |
| 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 | 50 | 2021 |
| 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 | 46 | 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 | 34 | 2019 |
| The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... medRxiv, 2021.11. 27.21266944, 2021 | 13 | 2021 |
| 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 | 9 | 2022 |
| GA4GH phenopackets: A practical introduction MS Ladewig, JOB Jacobsen, AH Wagner, D Danis, B El Kassaby, ... Advanced Genetics 4 (1), 2200016, 2023 | 8 | 2023 |
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| 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 | 7 | 2019 |
| 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 |
| 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 | 1 | 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 | 1 | 2023 |
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