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

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

采用综合、规模化的方法来解决意义不明的TSC2变异。

Biar, Carina G; Wang, Ziyu R; Camp, Nathan D; Holmes, Daniel L; Wheelock, Melinda K; Pendyala, Sriram; McGee, Abby V; Gupta, Pankhuri; McEwen, Abbye E; Tejura, Malvika; Richardson, Marcy E; Weyandt, Jamie D; Coleman, Taylor; Stewart, Ross; Zeiberg, Daniel; Vandi, Allyssa J; Dawson, Samantha; Radivojac, Predrag; Starita, Lea M; Carvill, Gemma L; James, Richard G; Fowler, Douglas M; Calhoun, Jeffrey D

A scalable approach to resolving variants of uncertain significance

一种解决意义不确定变异的可扩展方法

Tejura, Malvika; Chen, Yile; McEwen, Abbye E; Stewart, Ross; Sverchkov, Yuriy; Laval, Florent; Woo, Ivan; Zeiberg, Daniel; Shen, Runxi; Fayer, Shawn; Stone, Jeremy; Smith, Nahum; Casadei, Silvia; Wang, Ziyu R; Snyder, Matthew W; Capodanno, Benjamin J; Gupta, Pankhuri; Benazouz, Mariam; Jain, Shantanu; Heidl, Sarah; Muffley, Lara; Dong, Shengcheng; Hitz, Benjamin C; Gabdank, Idan; Lin, Khine; Da, Estelle Y; Best, Sabrina; Grindstaff, Sally; Reinhart, David; Rodriguez-Salas, Leslie; Seid, Obsa; Vandi, Allyssa J; Wenman, Cameron; Wheelock, Melinda K; Pendyala, Sriram; Holmes, Dan; Xu, Alicia; Hosokai, Airi; Tixhon, Maxime; Reno, Chloe; Ewald, Jessica D; Spirohn-Fitzgerald, Kerstin; Teelucksingh, Tanisha; Hao, Tong; Chen, Zitong S; Haghighi, Marzieh; Hamid, Ahmad Kamal; Miglietta, Esteban A; Weisbart, Erin; Coppin, Georges; Lambourne, Luke; Gebbia, Marinella; Coté, Atina G; van Loggerenberg, Warren; Fawcett, Kirby M; Steiner, Robert D; Johnsen, Jill M; Stergachis, Andrew B; Iakoucheva, Lilia M; Singh, Shantanu; Cimini, Beth A; Roth, Frederick P; James, Richard G; Vidal, Marc; Taipale, Mikko; Carpenter, Anne E; Calderwood, Michael A; Craven, Mark; Pejaver, Vikas; Rubin, Alan F; Radivojac, Predrag; Fowler, Douglas M; Starita, Lea M

Functional evidence for G6PD variant classification from mutational scanning.

通过突变扫描获得G6PD变异分类的功能证据

Geck Renee C, Wheelock Melinda K, Powell Rachel L, Wang Ziyu R, Holmes Daniel L, Fayer Shawn, Boyle Gabriel E, Vandi Allyssa J, McGee Abby V, Amorosi Clara J, Moore Nick, Rubin Alan F, Fowler Douglas M, Dunham Maitreya J

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

基于图像的汇总表型分析揭示了多维度的、疾病特异性的变异效应

Pendyala Sriram, Partington Katie, Bradley Nicholas, McEwen Abbye E, Straub Gwenneth, Kim Hyeon-Jin, Fayer Shawn, Holmes Daniel Lee, Sitko Katherine A, Vandi Allyssa J, Powell Rachel L, Friedman Clayton E, McDermot Evan, Kishore Nishka, Roth Frederick P, Rubin Alan F, Yang Kai-Chun, Starita Lea M, Noble William S, Fowler Douglas M

Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.

对人类细胞中 CYP2C19 的深度突变扫描揭示了底物特异性与丰度之间的权衡关系

Boyle Gabriel E, Sitko Katherine A, Galloway Jared G, Haddox Hugh K, Bianchi Aisha Haley, Dixon Ajeya, Wheelock Melinda K, Vandi Allyssa J, Wang Ziyu R, Thomson Raine E S, Garge Riddhiman K, Rettie Allan E, Rubin Alan F, Geck Renee C, Gillam Elizabeth M J, DeWitt William S, Matsen Frederick A 4th, Fowler Douglas M