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

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

供体特异性组装可增强复杂基因组区域中体细胞结构变异的检测

Mack, Taralynn; Lin, Jiadong; Ren, Luyao; Sohn, Min-Hwan; Minkina, Anna; Kwon, Youngjun; Yoo, DongAhn; Sui, Yang; Munson, Katherine M; Hoekzema, Kendra; Mastrorosa, F Kumara; Sorensen, Melanie; Ayllon, Marcelo; Sun, Kaitlyn A; Koundiya, Nidhi; Ou, Jeffrey; Noyes, Michelle D; Sedeño-Cortés, Adriana; Leonardson, Amy; Jacques, Caitlin N; Oliviera, Chris; Frazar, Christian D; Zakarian, Christina; Jensen, Dana M; Swanson, Elliot G; Ryke, Erica; Kolar, J Thomas; Ranchalis, Jane; Sutherlin, Lila; Vollger, Mitchell R; Loy, Kelsey; Pham, Meranda M; Huang, Meng-Fan; Au, Natalie Yt; Nielsen, Patrick M; McGee, Sean R; Neph, Shane; Bohaczuk, Stephanie; Shaffer, Tristan; Freeman, Vea; Mao, Yizi; Stillman, Benjamin Cohen; Richardson, Matthew; Smith, Joshua D; Weiss, Jeffrey M; Parmalee, Nancy L; Wei, Chia-Lin; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E

Sex-specific role of RNA-binding protein, pAUF1, on prolonged hypersensitivity after repetitive ischemia with reperfusion injury.

RNA结合蛋白pAUF1在反复缺血再灌注损伤后长期超敏反应中的性别特异性作用

Quijas Meranda M, Queme Luis F, Woodke Samantha T, Weyler Alex A, Buesing Dana, Butterfield Ally, Joshi Diya P, Mitxelena-Balerdi Irati, Ulrich-Lai Yvonne M, Jankowski Michael P

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序技术,在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。

Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer

癌症中体细胞突变负荷和功能影响的端粒到端粒图谱

Sohn, Min-Hwan; Dubocanin, Danilo; Vollger, Mitchell R; Kwon, Youngjun; Minkina, Anna; Munson, Katherine M; Hart, Samuel Fm; Ranchalis, Jane E; Parmalee, Nancy L; Sedeño-Cortés, Adriana E; Ou, Jeffrey; Au, Natalie Yt; Bohaczuk, Stephanie; Carroll, Brianne; Frazar, Christian D; Harvey, William T; Hoekzema, Kendra; Huang, Meng-Fan; Jacques, Caitlin N; Jensen, Dana M; Kolar, J Thomas; Lee, Rosa; Lin, Jiadong; Loy, Kelsey; Mack, Taralynn; Mao, Yizi; Pham, Meranda M; Ryke, Erica; Smith, Joshua D; Sutherlin, Lila; Swanson, Elliott G; Weiss, Jeffrey M; Wg, SMaHT Assembly; Carvalho, Claudia; Coorens, Tim Hh; Harris, Kelley; Wei, Chia-Lin; Eichler, Evan E; Altemose, Nicolas; Bennett, James T; Stergachis, Andrew B

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

利用短读长和长读长数据对超低等位基因频率下的体细胞单核苷酸变异和插入缺失检测进行全面基准测试

Jiny Ha, Yoo-Jin; Maziec, Dominika; Markowski, Julia; Georges, Stephanie J; Parmalee, Nancy L; Berselli, Michele; Coorens, Tim H H; Dong, Shihua; Gardiner, Stephanie; Kalra, Divya; Li, Daofeng; Miao, Benpeng; Musunuri, Rajeeva; Xue, Liying; Yu, Zhi; Walker, Kimberly; Anderson, Lisa; Au, Natalie Y T; Cibulskis, Carrie; Doddapaneni, Harsha; Grochowski, Christopher M; Jensen, Dana M; Lindsay, Tina; Loy, Kelsey; Narayan, Azeet; Narzisi, Giuseppe; Ou, Jeffrey; Pham, Meranda M; Runnels, Alexi M; Stergachis, Andrew B; Sutherlin, Lila M; Wang, Ting; Jin, Hu; Feng, William C; Zhang, Yuwei; Veit, Alexander D; TaeHee Kim, Clara; Chun, Hye-Jung E; Ardlie, Kristin; Fulton, Robert S; Germer, Soren; Gibbs, Richard; Marth, Gabor T; Bennett, James T; Park, Peter J

Mapping Protein-Protein Interactions at Birth: Single-Particle Cryo-EM Analysis of a Ribosome-Nascent Globin Complex

绘制出生时蛋白质-蛋白质相互作用图谱:核糖体-新生珠蛋白复合物的单颗粒冷冻电镜分析

Masse, Meranda M; Hutchinson, Rachel B; Morgan, Christopher E; Allaman, Heather J; Guan, Hongqing; Yu, Edward W; Cavagnero, Silvia

Nascent chains derived from a foldable protein sequence interact with specific ribosomal surface sites near the exit tunnel

源自可折叠蛋白质序列的新生链与核糖体出口通道附近的特定表面位点相互作用

Masse, Meranda M; Guzman-Luna, Valeria; Varela, Angela E; Mahfuza Shapla, Ummay; Hutchinson, Rachel B; Srivastava, Aniruddha; Wei, Wanting; Fuchs, Andrew M; Cavagnero, Silvia

Sex specific role of RNA-binding protein, AUF1, on prolonged hypersensitivity after repetitive ischemia with reperfusion injury

RNA 结合蛋白 AUF1 在反复缺血再灌注损伤后长期过敏反应中的性别特异性作用

Meranda M Quijas, Luis F Queme, Alex A Weyler, Ally Butterfield, Diya P Joshi, Irati Mitxelena-Balerdi, Michael P Jankowski

Increasing prevalence of diabetic ketoacidosis at diabetes diagnosis among children in Quebec: a population-based retrospective cohort study

魁北克省儿童糖尿病诊断时糖尿病酮症酸中毒患病率不断上升:一项基于人群的回顾性队列研究

Robinson, Marie-Eve; Li, Patricia; Rahme, Elham; Simard, Marc; Larocque, Isabelle; Nakhla, Meranda M

Temperature-dependent vitamin D signaling regulates developmental trajectory associated with diapause in an annual killifish

温度依赖性维生素 D 信号调节一年生鳉鱼休眠期相关的发育轨迹

Amie L T Romney, Erin M Davis, Meranda M Corona, Josiah T Wagner, Jason E Podrabsky