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

Comparative analysis of clearing methods for 3D imaging of the vasculature in mineralized mouse tissues

矿化小鼠组织血管三维成像透明化方法的比较分析

Ishola, Azeez O; Pillai, Athira; Ahn, Taeyong; Hsu, Chih-Wei; Lee, Brendan; Haelterman, Nele; Wythe, Joshua D

Two commonly reported incidental variants in OTC are associated with late-onset disease

OTC基因中两种常见的偶然变异与晚发性疾病相关。

Lang, Steven H; Lo, Russell S; Cromie, Gareth A; Dudley, Aimée M; Mew, Nicholas Ah; Simpson, Kara; Sutton, Vernon Reid; Darilek, Sandra; Ali, Saima; Snyder, Matthew T; Lee, Brendan; Marom, Ronit; Nagamani, Sandesh C S; Burrage, Lindsay C

Mechanical characterization of Col1a1 (+/-) osteogenesis imperfecta bone revealed altered mechanical stiffness heterogeneity across scales

对Col1a1(+/-)成骨不全症骨骼的力学表征揭示了不同尺度下力学刚度异质性的改变

Fan, Hanwen; Busschers, Ellen; Tanoto, Hutomo; Prabhu, Anoushka; Bui, Dinh Sang; Nguyen, Preston; Kehl, Julia; Berrospe-Rodriguez, Carla; Chen, Yuqing; Leynes, Carolina; Aguilar, Guillermo; Bae, Yangjin; Lee, Brendan; Zhou, Yuxiao

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

整合外显子组测序和机器学习技术发现,MICB 和干扰素通路基因是系统性硬化症风险的促成因素。

Ketkar, Shamika; Dai, Hongzheng; Burrage, Lindsay; Murdock, David; Dawson, Brian; Acosta-Herrera, Marialbert; Kerick, Martin; Martin, Javier; Wilhelm, Kevin; Asmussen, Jennifer Kay; Lichtarge, Olivier; Center, Regeneron Genetics; Assassi, Shervin; Mayes, Maureen D; Lee, Brendan H

A 39-year-old man with a rectal pumpkin seed bezoar

一名39岁男子患有直肠南瓜籽结石

Hussey, Alisha; Lee, Brendan; Douglas-Vail, Matthew

Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench

在“我们所有人”研究人员工作台中实施大规模基因组数据分析的培训资源

Baker, Jasmine; Stricker, Erik; Coleman, Julie; Ketkar, Shamika; Tan, Taotao; Butler, Ashley M; Williams, LaTerrica; Hammonds-Odie, Latanya; Murray, Debra; Lee, Brendan; Worley, Kim C; Atkinson, Elizabeth G

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

RNA测序在孟德尔遗传病诊断中的临床验证

Zhao, Sen; Macakova, Kristina; Sinson, Jefferson C; Dai, Hongzheng; Rosenfeld, Jill; Zapata, Gladys E; Li, Shenglan; Ward, Patricia A; Wang, Christiana; Qu, Chunjing; Maywald, Becky; Lee, Brendan; Eng, Christine; Liu, Pengfei

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay C; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren