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

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

Comprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor

全面检验STK11肿瘤抑制基因错义变异的功能

Zimmerman, Daniel; Cote, Atina; van Loggerenberg, Warren; Gebbia, Marinella; Kishore, Nishka; Weile, Jochen; Li, Roujia; Reno, Chloe; Marsh, Ashley Pl; Hernandez, Felicia; Shahagadkar, Preksha; Grove, Lauren; Meier, Samuel R; Wu, Hsin-Jung; Fenoglio, Silvia; Ahronian, Leanne; Teng, Teng; Waters, Andrew J; Seward, David; Taipale, Mikko; Aronson, Melyssa; Richardson, Marcy E; Adams, David J; Roth, Frederick P

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

人类疾病致病编码变异的普遍错误定位

Lacoste Jessica, Haghighi Marzieh, Haider Shahan, Reno Chloe, Lin Zhen-Yuan, Segal Dmitri, Qian Wesley Wei, Xiong Xueting, Teelucksingh Tanisha, Miglietta Esteban, Shafqat-Abbasi Hamdah, Ryder Pearl V, Senft Rebecca, Cimini Beth A, Murray Ryan R, Nyirakanani Chantal, Hao Tong, McClain Gregory G, Roth Frederick P, Calderwood Michael A, Hill David E, Vidal Marc, Yi S Stephen, Sahni Nidhi, Peng Jian, Gingras Anne-Claude, Singh Shantanu, Carpenter Anne E, Taipale Mikko

Importance of Autophagy in Mediating Cellular Responses to Iron Overload in Cardiomyocytes

自噬在介导心肌细胞对铁过载的细胞反应中的重要性

Tam, Eddie; Reno, Chloe; Nguyen, Khang; Cho, Sungji; Sweeney, Gary