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

Gene-sized DNA insertion at genomic safe harbors in human cells using a site-directed transposase

利用定点转座酶在人类细胞基因组安全港位点插入基因大小的DNA

Short, James E; Sharek, Lisa; Meckler, Joshua F; Stoytchev, Ilko; Tran, Christopher T; Errard, Clara; Hew, Brian E; Johnson, Brandon E; Waller, David F; Xie, Shanfu; Higgins, Joseph J; Tabibiazar, Raymond; Owens, Jesse B

Characterization of large transgene integrations in Chinese hamster ovary cells using a bioengineered mammalian transposase.

利用生物工程哺乳动物转座酶对中国仓鼠卵巢细胞中的大转基因整合进行表征

Marx Nicolas, Otte Anna-Maria, Leitner Klaus, Sitepu Rehmadanta, Berger Thomas, Schäpertöns Veronika, Huber Christian G, Zhu Quan, Nema Sandeep, Higgins Joseph J, Borth Nicole

Stargardt macular dystrophy and therapeutic approaches

Stargardt黄斑营养不良症及其治疗方法

Fujinami, Kaoru; Waheed, Nadia; Laich, Yannik; Yang, Paul; Fujinami-Yokokawa, Yu; Higgins, Joseph J; Lu, Jonathan T; Curtiss, Darin; Clary, Cathryn; Michaelides, Michel

VLDL receptor gene therapy for reducing atherogenic lipoproteins

VLDL受体基因疗法用于减少致动脉粥样硬化脂蛋白

Krauss, Ronald M; Lu, Jonathan T; Higgins, Joseph J; Clary, Cathryn M; Tabibiazar, Ray

Dementia assessment and management in primary care settings: a survey of current provider practices in the United States

美国基层医疗机构中痴呆症的评估和管理:一项关于当前医疗服务提供者实践的调查

Bernstein, Alissa; Rogers, Kirsten M; Possin, Katherine L; Steele, Natasha Z R; Ritchie, Christine S; Kramer, Joel H; Geschwind, Michael; Higgins, Joseph J; Wohlgemuth, Jay; Pesano, Rick; Miller, Bruce L; Rankin, Katherine P

The Brain Health Assessment for Detecting and Diagnosing Neurocognitive Disorders

用于检测和诊断神经认知障碍的脑健康评估

Possin, Katherine L; Moskowitz, Tacie; Erlhoff, Sabrina J; Rogers, Kirsten M; Johnson, Erica T; Steele, Natasha Z R; Higgins, Joseph J; Stiver, Jordan; Alioto, Andrea G; Farias, Sarah T; Miller, Bruce L; Rankin, Katherine P

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

用于孟德尔遗传病致病性评估的标准化DNA变异评分系统

Karbassi, Izabela; Maston, Glenn A; Love, Angela; DiVincenzo, Christina; Braastad, Corey D; Elzinga, Christopher D; Bright, Alison R; Previte, Domenic; Zhang, Ke; Rowland, Charles M; McCarthy, Michele; Lapierre, Jennifer L; Dubois, Felicita; Medeiros, Katelyn A; Batish, Sat Dev; Jones, Jeffrey; Liaquat, Khalida; Hoffman, Carol A; Jaremko, Malgorzata; Wang, Zhenyuan; Sun, Weimin; Buller-Burckle, Arlene; Strom, Charles M; Keiles, Steven B; Higgins, Joseph J

A brief review of recent Charcot-Marie-Tooth research and priorities

简要回顾夏科-马里-图斯病的最新研究进展和研究重点

Ekins, Sean; Litterman, Nadia K; Arnold, Renée J G; Burgess, Robert W; Freundlich, Joel S; Gray, Steven J; Higgins, Joseph J; Langley, Brett; Willis, Dianna E; Notterpek, Lucia; Pleasure, David; Sereda, Michael W; Moore, Allison

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

α1β1可溶性鸟苷酸环化酶(主要一氧化氮受体)的缺失会导致烟雾病和贲门失弛症。

Liu, Pengfei; Gelowani, Violet; Zhang, Feng; Drory, Vivian E; Ben-Shachar, Shay; Roney, Erin; Medeiros, Adam C; Moore, Rebecca J; DiVincenzo, Christina; Burnette, William B; Higgins, Joseph J; Li, Jun; Orr-Urtreger, Avi; Lupski, James R; Kazazian, Haig H Jr; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Hirschhorn, Joel N; Eichler, Evan E; Hervé, Dominique; Philippi, Anne; Belbouab, Reda; Zerah, Michel; Chabrier, Stéphane; Collardeau-Frachon, Sophie; Bergametti, Francoise; Essongue, Aurore; Berrou, Eliane; Krivosic, Valérie; Sainte-Rose, Christian; Houdart, Emmanuel; Adam, Frédéric; Billiemaz, Kareen; Lebret, Marilyne; Roman, Sabine; Passemard, Sandrine; Boulday, Gwenola; Delaforge, Audrey; Guey, Stéphanie; Dray, Xavier; Chabriat, Hugues; Brouckaert, Peter; Bryckaert, Maryjke; Tournier-Lasserve, Elisabeth

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

超过17000名患有神经病变的夏科-马里-图斯病患者的等位基因谱

DiVincenzo, Christina; Elzinga, Christopher D; Medeiros, Adam C; Karbassi, Izabela; Jones, Jeremiah R; Evans, Matthew C; Braastad, Corey D; Bishop, Crystal M; Jaremko, Malgorzata; Wang, Zhenyuan; Liaquat, Khalida; Hoffman, Carol A; York, Michelle D; Batish, Sat D; Lupski, James R; Higgins, Joseph J