Updated benchmarking of variant effect predictors using deep mutational scanning

por Livesey, Benjamin J, Marsh, Joseph A
Publicado 2023

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

por Livesey, Benjamin J, Marsh, Joseph A
Publicado 2020

The properties of human disease mutations at protein interfaces

por Livesey, Benjamin J., Marsh, Joseph A.
Publicado 2022

Interpreting protein variant effects with computational predictors and deep mutational scanning

por Livesey, Benjamin J., Marsh, Joseph A.
Publicado 2022

Correspondence between functional scores from deep mutational scans and predicted effects on protein stability

por Gerasimavicius, Lukas, Livesey, Benjamin J., Marsh, Joseph A.
Publicado 2023

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

por Gerasimavicius, Lukas, Livesey, Benjamin J., Marsh, Joseph A.
Publicado 2022

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

por Young, Su Ling, Stanton, Chloe M., Livesey, Benjamin J., Marsh, Joseph A., Cackett, Peter D.
Publicado 2022

Evolution of protein interfaces in multimers and fibrils

por Zabel, W. Jeffrey, Hagner, Kyle P., Livesey, Benjamin J., Marsh, Joseph A., Setayeshgar, Sima, Lynch, Michael, Higgs, Paul G.
Publicado 2019

Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects

por Robertson, Neil A., Latorre-Crespo, Eric, Terradas-Terradas, Maria, Lemos-Portela, Jorge, Purcell, Alison C., Livesey, Benjamin J., Hillary, Robert F., Murphy, Lee, Fawkes, Angie, MacGillivray, Louise, Copland, Mhairi, Marioni, Riccardo E., Marsh, Joseph A., Harris, Sarah E., Cox, Simon R., Deary, Ian J., Schumacher, Linus J., Kirschner, Kristina, Chandra, Tamir
Publicado 2022

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

por Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Publicado 2019