Följ
Benjamin Livesey
Benjamin Livesey
Verifierad e-postadress på sms.ed.ac.uk
Titel
Citeras av
Citeras av
År
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
BJ Livesey, JA Marsh
Molecular systems biology 16 (7), e9380, 2020
1332020
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
1032022
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
552022
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
472020
Interpreting protein variant effects with computational predictors and deep mutational scanning
BJ Livesey, JA Marsh
Disease Models & Mechanisms 15 (6), dmm049510, 2022
282022
Updated benchmarking of variant effect predictors using deep mutational scanning
BJ Livesey, JA Marsh
Molecular systems biology 19 (8), e11474, 2023
262023
The properties of human disease mutations at protein interfaces
BJ Livesey, JA Marsh
PLOS Computational Biology 18 (2), e1009858, 2022
212022
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
82021
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
72023
Using deep mutational scanning data to benchmark computational phenotype predictors and identify pathogenic missense mutations
BJ Livesey, JA Marsh
bioRxiv, 855957, 2019
32019
Advancing variant effect prediction using protein language models
BJ Livesey, JA Marsh
Nature Genetics 55 (9), 1426-1427, 2023
22023
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
12019
Guidelines for releasing a variant effect predictor
BJ Livesey, M Badonyi, M Dias, J Frazer, S Kumar, K Lindorff-Larsen, ...
arXiv preprint arXiv:2404.10807, 2024
2024
Prediction and properties of missense variants in proteins
BJ Livesey
The University of Edinburgh, 2023
2023
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, ...
bioRxiv, 2023.07. 25.550478, 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
Systemet kan inte utföra åtgärden just nu. Försök igen senare.
Artiklar 1–16