日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A structure-guided approach to noncoding variant evaluation for transcription factor binding using AlphaFold 3

利用 AlphaFold 3 进行非编码变异体评估以预测转录因子结合能力的结构导向方法

Gerasimavicius, Lukas; Biddie, Simon C; Marsh, Joseph A

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Leveraging protein structural information to improve variant effect prediction

利用蛋白质结构信息改进变异效应预测

Gerasimavicius, Lukas; Teichmann, Sarah A; Marsh, Joseph A

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation

RyR1临床解读中结构和变异效应预测因子的互补作用

Hernández Trapero, Rolando; Badonyi, Mihaly; Gerasimavicius, Lukas; Marsh, Joseph A

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

深度突变扫描可量化DNA结合并预测PAX6变异体的临床结果。

McDonnell, Alexander F; Plech, Marcin; Livesey, Benjamin J; Gerasimavicius, Lukas; Owen, Liusaidh J; Hall, Hildegard Nikki; FitzPatrick, David R; Marsh, Joseph A; Kudla, Grzegorz

MDA5 gain-of-function associated with a Glu794del mutation

MDA5 功能获得性突变与 Glu794del 突变相关

Wong, Callie; Gerasimavicius, Lukas; Crow, Yanick J; Uggenti, Carolina

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

深度突变扫描的功能评分与预测的蛋白质稳定性影响之间的对应关系

Gerasimavicius, Lukas; Livesey, Benjamin J; Marsh, Joseph A

The role of protein complexes in human genetic disease

蛋白质复合物在人类遗传疾病中的作用

Bergendahl, L Therese; Gerasimavicius, Lukas; Miles, Jamilla; Macdonald, Lewis; Wells, Jonathan N; Welburn, Julie P I; Marsh, Joseph A