| RDAD: a machine learning system to support phenotype-based rare disease diagnosis J Jia, R Wang, Z An, Y Guo, X Ni, T Shi Frontiers in genetics 9, 587, 2018 | 47 | 2018 |
| eRAM: encyclopedia of rare disease annotations for precision medicine J Jia, Z An, Y Ming, Y Guo, W Li, Y Liang, D Guo, X Li, J Tai, G Chen, Y Jin, ... Nucleic acids research 46 (D1), D937-D943, 2018 | 34 | 2018 |
| Towards efficiency in rare disease research: what is distinctive and important? J Jia, T Shi Science China Life Sciences 60, 686-691, 2017 | 34 | 2017 |
| An improved approach to infer protein-protein interaction based on a hierarchical vector space model J Zhang, K Jia, J Jia, Y Qian BMC bioinformatics 19, 1-14, 2018 | 29 | 2018 |
| PedAM: a database for pediatric disease annotation and medicine J Jia, Z An, Y Ming, Y Guo, W Li, X Li, Y Liang, D Guo, J Tai, G Chen, Y Jin, ... Nucleic Acids Research 46 (D1), D977-D983, 2018 | 18 | 2018 |
| Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease J Shi, M Ren, J Jia, M Tang, Y Guo, X Ni, T Shi Frontiers in Pharmacology 10, 1200, 2019 | 16 | 2019 |
| Systematically analyzing the pathogenic variations for acute intermittent porphyria Y Fu, J Jia, L Yue, R Yang, Y Guo, X Ni, T Shi Frontiers in pharmacology 10, 1018, 2019 | 15 | 2019 |
| Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction M Ren, J Shi, J Jia, Y Guo, X Ni, T Shi Orphanet Journal of Rare Diseases 15, 1-9, 2020 | 12 | 2020 |
| Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta J Shi, M Ren, J Jia, M Tang, Y Guo, X Ni, T Shi Advancing Genomics for Rare Disease Diagnosis and Therapy Development, 2020 | | 2020 |
| Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease (vol 10, 1200, 2019) J Shi, M Ren, J Jia, M Tang, Y Guo, X Ni, T Shi FRONTIERS IN PHARMACOLOGY 10, 2020 | | 2020 |
| Corrigendum: Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease J Shi, M Ren, J Jia, M Tang, Y Guo, X Ni, T Shi Frontiers in Pharmacology 10, 1603, 2020 | | 2020 |
