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

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

Using a chat-based informed consent tool in large-scale genomic research

在大规模基因组研究中使用基于聊天的知情同意工具

Savage, Sarah K; LoTempio, Jonathan; Smith, Erica D; Andrew, E Hallie; Mas, Gloria; Kahn-Kirby, Amanda H; Délot, Emmanuèle; Cohen, Andrea J; Pitsava, Georgia; Nussbaum, Robert; Fusaro, Vincent A; Berger, Seth; Vilain, Eric

"Development and Implementation of Novel Chatbot-based Genomic Research Consent"

“基于聊天机器人的新型基因组研究知情同意系统的开发与实施”

Smith, Erica D; Savage, Sarah K; Andrew, E Hallie; Martin, Gloria Mas; Kahn-Kirby, Amanda H; LoTempio, Jonathan; Délot, Emmanuèle; Cohen, Andrea J; Pitsava, Georgia; Berger, Seth; Fusaro, Vincent A; Vilain, Eric

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。

Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

对诊断性外显子组测序的多项发现进行回顾性分析:一半是不同的诊断,一半是重叠的诊断

Smith, Erica D; Blanco, Kirsten; Sajan, Samin A; Hunter, Jesse M; Shinde, Deepali N; Wayburn, Bess; Rossi, Mari; Huang, Jennifer; Stevens, Cathy A; Muss, Candace; Alcaraz, Wendy; Hagman, Kelly D Farwell; Tang, Sha; Radtke, Kelly

Clinical Epigenetic Therapies Disrupt Sex Chromosome Dosage Compensation in Human Female Cells

临床表观遗传疗法破坏人类女性细胞中的性染色体剂量补偿

Laskowski, Agnieszka I; Fanslow, Danielle A; Smith, Erica D; Kosak, Steven T

Group A Streptococcus intranasal infection promotes CNS infiltration by streptococcal-specific Th17 cells.

A组链球菌鼻内感染可促进链球菌特异性Th17细胞浸润中枢神经系统

Dileepan Thamotharampillai, Smith Erica D, Knowland Daniel, Hsu Martin, Platt Maryann, Bittner-Eddy Peter, Cohen Brenda, Southern Peter, Latimer Elizabeth, Harley Earl, Agalliu Dritan, Cleary P Patrick

A-type nuclear lamins act as transcriptional repressors when targeted to promoters

A型核纤层蛋白在靶向启动子时发挥转录抑制因子的作用。

Lee, Damian C; Welton, K Linnea; Smith, Erica D; Kennedy, Brian K

Age- and calorie-independent life span extension from dietary restriction by bacterial deprivation in Caenorhabditis elegans

通过限制饮食和减少细菌摄入,秀丽隐杆线虫的寿命得以延长,且这种延长与年龄和卡路里摄入无关。

Smith, Erica D; Kaeberlein, Tammi L; Lydum, Brynn T; Sager, Jennifer; Welton, K Linnea; Kennedy, Brian K; Kaeberlein, Matt

More than blood, a novel gene required for mammalian postimplantation development

比血液更重要的,一种哺乳动物着床后发育所需的新基因

Smith, Erica D; Xu, Yanfei; Tomson, Brett N; Leung, Cindy G; Fujiwara, Yuko; Orkin, Stuart H; Crispino, John D