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

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts

大规模编辑干细胞基因组,以测量不同细胞和遗传背景下的变异效应

Fayer, Shawn; Garge, Riddhiman K; Hopkins, Melissa; Friedman, Clayton E; McGee, Abby V; Rico, Joshua; Powell, Rachel L; McDermot, Evan; Smith, Nahum T; Pendyala, Sriram; Richardson, Marcy E; Smith, Erica D; Bowen, B Monica; Resnick, Rebecca; Gupta, Pankhuri; Stergachis, Andrew B; Gifford, Casey; Pinglay, Sudarshan; Yang, Kai-Chun; Fowler, Douglas M; Starita, Lea M

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

BARD1基因的饱和基因组编辑解析了VUS,并为BRCA1-BARD1肿瘤抑制机制提供了新的见解。

Woo, Ivan; Casadei, Silvia; Snyder, Matthew W; Smith, Nahum T; Best, Sabrina; Tejura, Malvika; Gupta, Pankhuri; McEwen, Abbye E; Post, Mason; Hamm, Audrey; Dawood, Moez; Hosokai, Airi; Xu, Alicia; Garge, Riddhiman K; Fayer, Shawn; Brannan, Terra; Richardson, Marcy E; Pendyala, Sriram; Heidl, Sarah; Muffley, Lara; Fowler, Douglas M; Starita, Lea M

Molecular detection of pre-ribosomal RNAs of Mycobacterium bovis bacille Calmette-Guérin and Mycobacterium tuberculosis to enhance pre-clinical tuberculosis drug and vaccine development

利用分子检测牛分枝杆菌卡介苗和结核分枝杆菌的前核糖体RNA,以促进结核病药物和疫苗的临床前研发。

Chang, Ming; Venkatasubramanian, Sambasivan; Barrett, Holly; Urdahl, Kevin B; Weigel, Kris M; Cangelosi, Gerard A; Shah, Javeed A; Saha, Aparajita; Feng, Libing; Adams, Kristin N; Sherman, David R; Smith, Nahum; Seshadri, Chetan; Kublin, James G; Murphy, Sean C

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus

BRCA1氨基末端2172个变异体的DNA修复功能评分

Diabate, Mariame; Islam, Muhtadi M; Nagy, Gregory; Banerjee, Tapahsama; Dhar, Shruti; Smith, Nahum; Adamovich, Aleksandra I; Starita, Lea M; Parvin, Jeffrey D

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains

多重变异效应分析揭示了BRCA1卷曲螺旋和丝氨酸簇结构域中具有功能重要性的残基

Nagy, Gregory; Diabate, Mariame; Banerjee, Tapahsama; Adamovich, Aleksandra I; Smith, Nahum; Jeon, Hyeongseon; Dhar, Shruti; Liu, Wenfang; Burgess, Katherine; Chung, Dongjun; Starita, Lea M; Parvin, Jeffrey D

The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays.

利用多重DNA双链断裂修复试验研究BRCA1 BRCT结构域变异的功能影响

Adamovich Aleksandra I, Diabate Mariame, Banerjee Tapahsama, Nagy Gregory, Smith Nahum, Duncan Kathryn, Mendoza Mendoza Erika, Prida Gisselle, Freitas Michael A, Starita Lea M, Parvin Jeffrey D

Beyond Blood Smears: Qualification of Plasmodium 18S rRNA as a Biomarker for Controlled Human Malaria Infections

超越血涂片:疟原虫 18S rRNA 作为控制性人类疟疾感染生物标志物的鉴定

Seilie, Annette M; Chang, Ming; Hanron, Amelia E; Billman, Zachary P; Stone, Brad C; Zhou, Kevin; Olsen, Tayla M; Daza, Glenda; Ortega, Jose; Cruz, Kurtis R; Smith, Nahum; Healy, Sara A; Neal, Jillian; Wallis, Carolyn K; Shelton, Lisa; Mankowski, Tracie VonGoedert; Wong-Madden, Sharon; Mikolajczak, Sebastian A; Vaughan, Ashley M; Kappe, Stefan H I; Fishbaugher, Matt; Betz, Will; Kennedy, Mark; Hume, Jen C C; Talley, Angela K; Hoffman, Stephen L; Chakravarty, Sumana; Sim, B Kim Lee; Richie, Thomas L; Wald, Anna; Plowe, Christopher V; Lyke, Kirsten E; Adams, Matthew; Fahle, Gary A; Cowan, Elliot P; Duffy, Patrick E; Kublin, James G; Murphy, Sean C

Malaria Parasite Density in Individuals with Different Rapid Diagnostic Test Results and Concentrations of HRP2 Antigen

不同快速诊断检测结果和HRP2抗原浓度的个体中疟原虫密度

Plucinski, Mateusz M; Dimbu, Pedro Rafael; Fortes, Filomeno; Murphy, Sean C; Smith, Nahum T; Cruz, Kurtis R; Seilie, Annette M; Halsey, Eric S; Aidoo, Michael; Rogier, Eric

Accurate Pan-Cancer Molecular Diagnosis of Microsatellite Instability by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing

利用单分子分子反转探针捕获和高通量测序技术对微卫星不稳定性进行精准的泛癌分子诊断

Waalkes, Adam; Smith, Nahum; Penewit, Kelsi; Hempelmann, Jennifer; Konnick, Eric Q; Hause, Ronald J; Pritchard, Colin C; Salipante, Stephen J