| Expansion of the Gene Ontology knowledgebase and resources Gene Ontology Consortium Nucleic acids research 45 (D1), D331-D338, 2017 | 1607 | 2017 |
| Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies AT Pagnamenta, S Lise, V Harrison, H Stewart, S Jayawant, ... Journal of human genetics 57 (1), 70-72, 2012 | 86 | 2012 |
| Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction KA Williamson, HN Hall, LJ Owen, BJ Livesey, IM Hanson, G Adams, ... Genetics in Medicine 22 (3), 598-609, 2020 | 54 | 2020 |
| Foresight—a generative pretrained transformer for modelling of patient timelines using electronic health records: a retrospective modelling study Z Kraljevic, D Bean, A Shek, R Bendayan, H Hemingway, JA Yeung, ... The Lancet Digital Health 6 (4), e281-e290, 2024 | 46* | 2024 |
| Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation M Bernkopf, UB Abdullah, SJ Bush, KA Wood, S Ghaffari, E Giannoulatou, ... Nature communications 14 (1), 853, 2023 | 20 | 2023 |
| SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis A Stefanski, E Pérez-Palma, T Brünger, L Montanucci, C Gati, C Klöckner, ... Brain 146 (12), 5198-5208, 2023 | 11 | 2023 |
| Capturing heart valve development with Gene Ontology SH Ahmed, AT Deng, RP Huntley, NH Campbell, RC Lovering Frontiers in Genetics 14, 1251902, 2023 | 3 | 2023 |
| Digital Fellowships: Inspiring use of contemporary technologies in applied healthcare T Salisbury, AT Deng, E Burch, A Godfrey NPJ Digital Medicine 6 (1), 178, 2023 | 2 | 2023 |
| Inherited endocrine neoplasia—a comprehensive review from gland to gene AT Deng, L Izatt Current Genetic Medicine Reports 7, 102-115, 2019 | 2 | 2019 |
| Artificial Intelligence in Musculoskeletal Medicine: A Scoping Review S Cooray, A Deng, T Dong, S Hammouche, M Quansah, J Tsigarides, ... touchREVIEWS in RMD 3 (2), 2024 | | 2024 |
Professor Richard DobsonGroup lead and Professor in Bioinformatics, Kings College London and UCLE-mailová adresa ověřena na: kcl.ac.uk
