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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

The IGVF catalog-from genetic variation to function

IGVF目录——从基因变异到功能

Li, Daofeng; Liu, Shane; Assis, Pedro R; Li, Mingjie; Dong, Shengcheng; Whaling, Ian; Jolanki, Otto; Kagda, Meenakshi; Zhang, Wenjin; Macias-Velasco, Juan F; Liu, Tianjie; Cody, Sarah; Antonacci-Fulton, Lucinda; Huang, Yuanhao; Liu, Jie; Montgomery, Michael T; Zeiberg, Daniel; Jain, Shantanu; Pejaver, Vikas; Bergquist, Timothy; Chen, Yile; Radivojac, Predrag; Gersbach, Charles A; Sherpa, Rintsen N; Castro, Christopher P; Boyle, Alan P; Starita, Lea M; Fowler, Douglas M; Ahituv, Nadav; Dey, Kushal K; Majoros, William H; Reddy, Timothy E; Craven, Mark; Sinha, Riya; Sverchkov, Yuriy; Cai, Xiangmeng; Nzima, Mpathi Z; Calderwood, Michael A; Rozowsky, Joel; Gerstein, Mark; Ma, Jian; Yue, Feng; Cherry, J Michael; Love, Michael I; Engreitz, Jesse M; Hitz, Benjamin C; Wang, Ting

A near-complete map of human cytosolic degrons and their relevance for disease

人类胞质降解子的近乎完整的图谱及其与疾病的相关性

Voutsinos, Vasileios; Johansson, Kristoffer E; Larsen, Fia B; Grønbæk-Thygesen, Martin; Jonsson, Nicolas; Holm-Olesen, Emma; Tesei, Giulio; Stein, Amelie; Fowler, Douglas M; Lindorff-Larsen, Kresten; Hartmann-Petersen, Rasmus

Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants

药物基因组学中的计算变异预测器:从单个等位基因的评估到抗抑郁药不良反应的评估

Hajto, Jacek; Piechota, Marcin; Krätschmer, Ilse; Konowalska, Paula; Boyle, Gabriel E; Fowler, Douglas M; Borczyk, Malgorzata; Korostynski, Michal

Identification of affinity-optimized peptide binders of a viral protease for chemical genetic applications

鉴定用于化学遗传学应用的病毒蛋白酶亲和力优化肽结合剂

Banales-Mejia, Fernando; Dieter, Emily M; Radmall, Kyler J; Foight, Glenna W; Fowler, Douglas M; Maly, Dustin J

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

The quantitative impact of 3'UTRs on gene expression

3'UTR对基因表达的定量影响

West, Jessica D; Smith, Hannah J; Vu, Luyen Tien; Fogarty, Elizabeth A; Matreyek, Kenneth A; Fowler, Douglas M; Grimson, Andrew

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP

利用 MultiSTEP 技术对分泌蛋白中的变异效应进行多重和多模态映射

Popp, Nicholas A; Powell, Rachel L; Wheelock, Melinda K; Holmes, Kristen J; Zapp, Brendan D; Sheldon, Kathryn M; Fletcher, Shelley N; Wu, Xiaoping; Fayer, Shawn; Rubin, Alan F; Lannert, Kerry W; Chang, Alexis T; Sheehan, John P; Johnsen, Jill M; Fowler, Douglas M

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

MaveDB 2024:一个经过精心整理的社区数据库,包含来自多重功能分析的超过七百万个变异效应

Rubin, Alan F; Stone, Jeremy; Bianchi, Aisha Haley; Capodanno, Benjamin J; Da, Estelle Y; Dias, Mafalda; Esposito, Daniel; Frazer, Jonathan; Fu, Yunfan; Grindstaff, Sally B; Harrington, Matthew R; Li, Iris; McEwen, Abbye E; Min, Joseph K; Moore, Nick; Moscatelli, Olivia G; Ong, Jesslyn; Polunina, Polina V; Rollins, Joshua E; Rollins, Nathan J; Snyder, Ashley E; Tam, Amy; Wakefield, Matthew J; Ye, Shenyi Sunny; Starita, Lea M; Bryant, Vanessa L; Marks, Debora S; Fowler, Douglas M