| Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations BJ Livesey, JA Marsh Molecular systems biology 16 (7), e9380, 2020 | 141 | 2020 |
| Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure L Gerasimavicius, BJ Livesey, JA Marsh Nature communications 13 (1), 3895, 2022 | 120 | 2022 |
| Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects NA Robertson, E Latorre-Crespo, M Terradas-Terradas, J Lemos-Portela, ... Nature medicine 28 (7), 1439-1446, 2022 | 61 | 2022 |
| 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 | 50 | 2020 |
| Updated benchmarking of variant effect predictors using deep mutational scanning BJ Livesey, JA Marsh Molecular systems biology 19 (8), e11474, 2023 | 41 | 2023 |
| Interpreting protein variant effects with computational predictors and deep mutational scanning BJ Livesey, JA Marsh Disease Models & Mechanisms 15 (6), dmm049510, 2022 | 34 | 2022 |
| The properties of human disease mutations at protein interfaces BJ Livesey, JA Marsh PLOS Computational Biology 18 (2), e1009858, 2022 | 21 | 2022 |
| Correspondence between functional scores from deep mutational scans and predicted effects on protein stability L Gerasimavicius, BJ Livesey, JA Marsh Protein Science 32 (7), e4688, 2023 | 11 | 2023 |
| Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure: implications for variant effect prediction L Gerasimavicius, BJ Livesey, JA Marsh bioRxiv, 2021.10. 23.465554, 2021 | 8 | 2021 |
| Advancing variant effect prediction using protein language models BJ Livesey, JA Marsh Nature Genetics 55 (9), 1426-1427, 2023 | 4 | 2023 |
| Using deep mutational scanning data to benchmark computational phenotype predictors and identify pathogenic missense mutations BJ Livesey, JA Marsh bioRxiv, 855957, 2019 | 3 | 2019 |
| Guidelines for releasing a variant effect predictor BJ Livesey, M Badonyi, M Dias, J Frazer, S Kumar, K Lindorff-Larsen, ... ArXiv, 2024 | 2 | 2024 |
| Variant effect predictor correlation with functional assays is reflective of clinical classification performance BJ Livesey, JA Marsh bioRxiv, 2024.05. 12.593741, 2024 | 2 | 2024 |
| Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants AF McDonnell, M Plech, BJ Livesey, L Gerasimavicius, LJ Owen, HN Hall, ... Molecular Systems Biology, 1-20, 2024 | 1 | 2024 |
| Evolution of protein interfaces in multimers and fibrils WJ Zabel, KP Hagner, BJ Livesey, JA Marsh, S Setayeshgar, M Lynch, ... The Journal of chemical physics 150 (22), 2019 | 1 | 2019 |
| Pervasive ancestry bias in variant effect predictors AK Pathak, N Bora, M Badonyi, BJ Livesey, SG10K_Health Consortium, ... bioRxiv, 2024.05. 20.594987, 2024 | | 2024 |
| Prediction and properties of missense variants in proteins BJ Livesey The University of Edinburgh, 2023 | | 2023 |
| Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report SL Young, CM Stanton, BJ Livesey, JA Marsh, PD Cackett BMC ophthalmology 22 (1), 140, 2022 | | 2022 |
