| Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous … S Balachandar, TJ Graves, A Shimonty, K Kerr, J Kilner, S Xiao, R Slade, ... American Journal of Medical Genetics Part A 188 (3), 959-964, 2022 | 50 | 2022 |
| Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations MA Argentieri, S Xiao, D Bennett, L Winchester, AJ Nevado-Holgado, ... Nature medicine 30 (9), 2450-2460, 2024 | 38 | 2024 |
| Meta-analysis of 16S rRNA microbial data identified distinctive and predictive microbiota dysbiosis in colorectal carcinoma adjacent tissue Z Mo, P Huang, C Yang, S Xiao, G Zhang, F Ling, L Li Msystems 5 (2), 10.1128/msystems. 00138-20, 2020 | 27 | 2020 |
| Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic … JM Clarke, M Alikian, S Xiao, D Kasperaviciute, E Thomas, I Turbin, ... Journal of Medical Genetics 57 (12), 859-862, 2020 | 19 | 2020 |
| Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants> 5kb from coding DNA S Xiao, Z Kai, D Murphy, D Li, D Patel, A Bielowka, ME Bernabeu-Herrero, ... American Journal of Human Genetics, 2023 | 11* | 2023 |
| S66 Delivering the 100,000 genomes project to establish the functional role of DNA sequence variants in respiratory rare diseases CL Shovlin, DJ Morris-Rosendahl, F Copeland, A De Soyza, C Hogg, ... Thorax 74 (Suppl 2), A44-A45, 2019 | 2 | 2019 |
| Novel GDF2 loss of function variant in a family with HHT and PAVMs expands the phenotype associated with BMP9 dysfunction S Balachandar, T Graves, A Shimonty, S Xiao, R Slade, M Sroya, ... D25. O BRAVE NEW WORLD! OMICS, SYSTEM BIOLOGY, AND NEW MOLECULAR MECHANISMS …, 2020 | 1 | 2020 |
| Varicella zoster and the risk of dementia: understanding the interplay between age, the genome and proteome N Amin, MA Argentieri, S Xiao, CM Van Duijn Alzheimer's & Dementia 20, e091589, 2024 | | 2024 |
| THU-343 Dissecting metabolic dysfunction-associated steatotic liver disease with increased alcohol intake (MetALD): clinical and molecular insights and classification J Liu, S Hu, S Xiao, R Huang, L Chen, J Tomlinson, J Cobbold, J Howson, ... Journal of Hepatology 80, S135-S136, 2024 | | 2024 |
| Harnessing the 100,000 Genomes Project whole genome sequencing data-an unbiased systematic tool to filter by biologically validated regions of functionality S Xiao, Z Kai, D Brown, Genomics England Research Consortium, ... medRxiv, 2020.03. 30.20047209, 2020 | | 2020 |
| S96 Identifying genetic modifiers of disease severity using whole genome analyses of families with hereditary haemorrhagic telangiectasia recruited to the 100,000 genomes project RT Slade, S Xiao, D Brown, CL Shovlin Thorax 74 (Suppl 2), A60, 2019 | | 2019 |
| S95 Identifying new hereditary haemorrhagic telangiectasia genes by applying a machine learning approach to screen whole genome sequencing data S Xiao, D Brown, IG Mollet, FS Govani, D Patel, L Game, CL Shovlin, ... Thorax 74 (Suppl 2), A59-A60, 2019 | | 2019 |
| Claire L. Shovlin PhD FRCP, NHLI Cardiovascular Sciences, Imperial Centre for Translational and Experimental Medicine, Imperial College London, Hammersmith Campus, Du Cane Road … S XIAO, Z KAI, D BROWN | | |
