| A blood atlas of COVID-19 defines hallmarks of disease severity and specificity DJ Ahern, Z Ai, M Ainsworth, C Allan, A Allcock, B Angus, MA Ansari, ... Cell 185 (5), 916-938. e58, 2022 | 242 | 2022 |
| Accurate targeted long-read DNA methylation and hydroxymethylation sequencing with TAPS Y Liu, J Cheng, P Siejka-Zielińska, C Weldon, H Roberts, M Lopopolo, ... Genome biology 21, 1-9, 2020 | 85 | 2020 |
| Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma HE Roberts, M Lopopolo, AT Pagnamenta, E Sharma, D Parkes, L Lonie, ... Scientific Reports 11 (1), 6408, 2021 | 28 | 2021 |
| Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19 CP Kotanidis, C Xie, D Alexander, JCL Rodrigues, K Burnham, A Mentzer, ... The Lancet Digital Health 4 (10), e705-e716, 2022 | 22 | 2022 |
| A study of the peopling of Greenland using next generation sequencing of complete mitochondrial genomes M Lopopolo, C Børsting, V Pereira, N Morling American Journal of Physical Anthropology 161 (4), 698-704, 2016 | 17 | 2016 |
| RBFOX splicing factors contribute to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus K Jansen, N Shikama-Dorn, M Attar, S Maio, M Lopopolo, D Buck, ... Genome Research 31 (11), 2022-2034, 2021 | 5 | 2021 |
| The diagnostic chronic lymphocytic leukaemia genome by nanopore sequencing A Burns, D DiSalvo-Williams, D Bruce, P Robbe, A Timbs, ... bioRxiv, 750059, 2019 | 2 | 2019 |
| Rbfox contributes to a conservative program of self-antigen splicing in thymic epithelial cells K Jansen, N Shikama-Dorn, M Attar, S Maio, M Lopopolo, D Buck, ... bioRxiv, 2020 | 1 | 2020 |
| Detection of clinically relevant molecular alterations in chronic lymphocytic leukemia (CLL) by Nanopore sequencing A Burns, DR Bruce, P Robbe, A Timbs, B Stamatopoulos, R Clifford, ... Blood 132, 1847, 2018 | 1 | 2018 |
| Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus R Maroofian, AT Pagnamenta, A Navabazam, R Schwessinger, ... Human Genetics and Genomics Advances 5 (4), 2024 | | 2024 |
| An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer CP de Villiers, DJ Downes, A Goel, AT Pagnamenta, E Ormondroyd, ... medRxiv, 2024.08. 20.24312115, 2024 | | 2024 |
| REPORT Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus R Maroofian, AT Pagnamenta, A Navabazam, R Schwessinger, ... | | 2024 |
| A transcriptomic census reveals that Rbfox contributes to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus K Jansen, N Shikama-Dorn, M Attar, S Maio, M Lopopolo, D Buck, ... bioRxiv, 2020.03. 06.980870, 2020 | | 2020 |
