| 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 | 802 | 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 | 678 | 2019 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 69 | 2021 |
| 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 | 47 | 2022 |
| An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data V Cipriani, N Pontikos, G Arno, PI Sergouniotis, E Lenassi, P Thawong, ... Genes 11 (4), 460, 2020 | 42 | 2020 |
| Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery XA Zhang, A Yates, N Vasilevsky, JP Gourdine, TJ Callahan, LC Carmody, ... NPJ digital medicine 2 (1), 32, 2019 | 42 | 2019 |
| 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 |
| Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+ remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes LC Carmody, H Blau, D Danis, XA Zhang, JP Gourdine, N Vasilevsky, ... Orphanet journal of rare diseases 15, 1-13, 2020 | 28 | 2020 |
| Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease JOB Jacobsen, C Kelly, V Cipriani, GE Research Consortium, CJ Mungall, ... Human Mutation, 2022 | 20 | 2022 |
| Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation J Stanik, M Skopkova, K Brennerova, D Danis, M Rosolankova, ... Diabetes research and clinical practice 126, 144-150, 2017 | 19 | 2017 |
| Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients D Danis, K Brennerova, M Skopkova, T Kurdiova, J Ukropec, J Stanik, ... Endocr Regul 52 (2), 110-8, 2018 | 18 | 2018 |
| DNM1 encephalopathy− atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene M Kolnikova, M Skopkova, D Ilencikova, T Foltan, J Payerova, D Danis, ... Seizure 56, 31-33, 2018 | 18 | 2018 |
| Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa M Skopkova, M Ciljakova, Z Havlicekova, J Vojtkova, L Valentinova, ... European journal of medical genetics 59 (9), 429-435, 2016 | 18 | 2016 |
| The impact of biological sex on alternative splicing G Karlebach, DFT Veiga, AD Mays, C Chatzipantsiou, PP Barja, ... BioRxiv, 490904, 2018 | 17 | 2018 |
| 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 | 14 | 2021 |
| Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report L Varga, D Danis, M Skopkova, I Masindova, Z Slobodova, L Demesova, ... BMC medical genetics 20 (1), 1-10, 2019 | 14 | 2019 |
| parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants A Petrini, M Mesiti, M Schubach, M Frasca, D Danis, M Re, G Grossi, ... GigaScience 9 (5), giaa052, 2020 | 13 | 2020 |
| SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing D Danis, JOB Jacobsen, P Balachandran, Q Zhu, F Yilmaz, J Reese, ... Genome Medicine 14 (1), 44, 2022 | 12 | 2022 |
