Livesey BJ - Search Results

1

Guidelines for releasing a variant effect predictor.

Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Livesey BJ, et al. ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1. ArXiv. 2024. PMID: 38699161 Free PMC article. Preprint.

2

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

Livesey BJ, Marsh JA. Livesey BJ, et al. Mol Syst Biol. 2020 Jul;16(7):e9380. doi: 10.15252/msb.20199380. Mol Syst Biol. 2020. PMID: 32627955 Free PMC article.

3

The properties of human disease mutations at protein interfaces.

Livesey BJ, Marsh JA. Livesey BJ, et al. PLoS Comput Biol. 2022 Feb 4;18(2):e1009858. doi: 10.1371/journal.pcbi.1009858. eCollection 2022 Feb. PLoS Comput Biol. 2022. PMID: 35120134 Free PMC article.

4

Interpreting protein variant effects with computational predictors and deep mutational scanning.

Livesey BJ, Marsh JA. Livesey BJ, et al. Dis Model Mech. 2022 Jun 1;15(6):dmm049510. doi: 10.1242/dmm.049510. Epub 2022 Jun 23. Dis Model Mech. 2022. PMID: 35736673 Free PMC article. Review.

5

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

Gerasimavicius L, Livesey BJ, Marsh JA. Gerasimavicius L, et al. Among authors: livesey bj. Nat Commun. 2022 Jul 6;13(1):3895. doi: 10.1038/s41467-022-31686-6. Nat Commun. 2022. PMID: 35794153 Free PMC article.

6

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

Gerasimavicius L, Livesey BJ, Marsh JA. Gerasimavicius L, et al. Among authors: livesey bj. Protein Sci. 2023 Jul;32(7):e4688. doi: 10.1002/pro.4688. Protein Sci. 2023. PMID: 37243972 Free PMC article.

7

Updated benchmarking of variant effect predictors using deep mutational scanning.

Livesey BJ, Marsh JA. Livesey BJ, et al. Mol Syst Biol. 2023 Aug 8;19(8):e11474. doi: 10.15252/msb.202211474. Epub 2023 Jun 13. Mol Syst Biol. 2023. PMID: 37310135 Free PMC article.

8

Advancing variant effect prediction using protein language models.

Livesey BJ, Marsh JA. Livesey BJ, et al. Nat Genet. 2023 Sep;55(9):1426-1427. doi: 10.1038/s41588-023-01470-3. Nat Genet. 2023. PMID: 37563330 No abstract available.

9

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.

McDonnell AF, Plech M, Livesey BJ, Gerasimavicius L, Owen LJ, Hall HN, FitzPatrick DR, Marsh JA, Kudla G. McDonnell AF, et al. Among authors: livesey bj. Mol Syst Biol. 2024 Jul;20(7):825-844. doi: 10.1038/s44320-024-00043-8. Epub 2024 Jun 7. Mol Syst Biol. 2024. PMID: 38849565 Free PMC article.

10

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

Young SL, Stanton CM, Livesey BJ, Marsh JA, Cackett PD. Young SL, et al. Among authors: livesey bj. BMC Ophthalmol. 2022 Mar 26;22(1):140. doi: 10.1186/s12886-022-02353-7. BMC Ophthalmol. 2022. PMID: 35346118 Free PMC article.

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