| Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases M Zhao, JM Havrilla, L Fang, Y Chen, J Peng, C Liu, C Wu, M Sarmady, ... NAR genomics and Bioinformatics 2 (2), lqaa032, 2020 | 61 | 2020 |
| Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity H Cheng, S Capponi, E Wakeling, E Marchi, Q Li, M Zhao, C Weng, ... Human mutation 41 (2), 449-464, 2020 | 25 | 2020 |
| Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder J Peng, M Zhao, J Havrilla, C Liu, C Weng, W Guthrie, R Schultz, K Wang, ... BMC Medical Informatics and Decision Making 20, 1-9, 2020 | 23 | 2020 |
| Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records M Zhao, J Havrilla, J Peng, M Drye, M Fecher, W Guthrie, B Tunc, ... Journal of Neurodevelopmental Disorders 14 (1), 32, 2022 | 11 | 2022 |
| Clinical phenotypic spectrum of 4095 individuals with down syndrome from text mining of electronic health records JM Havrilla, M Zhao, C Liu, C Weng, I Helbig, E Bhoj, K Wang Genes 12 (8), 1159, 2021 | 8 | 2021 |
