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

Developmental convergence and divergence in human stem cell models of autism.

自闭症人类干细胞模型的发育趋同与分化。

Gordon Aaron, Yoon Se-Jin, Bicks Lucy K, Martín Jacqueline M, Pintacuda Greta, Arteaga Stephanie, Wamsley Brie, Guo Qiuyu, Elahi Lubayna, Dolmetsch Ricardo E, Bernstein Jonathan A, O'Hara Ruth, Hallmayer Joachim F, Lage Kasper, Pasca Sergiu P, Geschwind Daniel H

Suicidal Ideation and Sleep Disturbances Among People With Huntington Disease: Evidence From the HDBOI Study

亨廷顿病患者的自杀意念和睡眠障碍:来自HDBOI研究的证据

Rodríguez Santana, Idaira; Frank, Samuel A; Mestre, Tiago A; Arnesen, Astri; Hamilton, Jamie L; Hubberstey, Hayley; Winkelmann, Michaela; Hernandez-Jimenez, Elena; Frimpter, Jeff; Dolmetsch, Ricardo; Ali, Talaha M

Evaluation of One-Stage Assays for the Monitoring of Recombinant Human Factor IX Padua Activity After Etranacogene Dezaparvovec Gene Therapy

评估用于监测 Etranacogene Dezaparvovec 基因治疗后重组人凝血因子 IX Padua 活性的单阶段检测方法

Astermark, Jan; Miesbach, Wolfgang; Coppens, Michiel; Gielen, Sander; Twisk, Jaap; Dolmetsch, Ricardo; Verweij, Stephanie; Monahan, Paul E; Ewenstein, Bruce M; Nuthalapati, Silpa; Galante, Nick; Young, Guy

Molecular evaluation and vector integration analysis of HCC complicating AAV gene therapy for hemophilia B

血友病B患者接受AAV基因治疗后并发肝细胞癌的分子评估和载体整合分析

Schmidt, Manfred; Foster, Graham R; Coppens, Michiel; Thomsen, Hauke; Dolmetsch, Ricardo; Heijink, Liesbeth; Monahan, Paul E; Pipe, Steven W

Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy

接受etranacogene dezaparvovec基因治疗3年后,B型血友病患者的凝血因子IX水平保持稳定且持久。

von Drygalski, Annette; Gomez, Esteban; Giermasz, Adam; Castaman, Giancarlo; Key, Nigel S; Lattimore, Susan U; Leebeek, Frank W G; Miesbach, Wolfgang A; Recht, Michael; Gut, Robert; Dolmetsch, Ricardo; Monahan, Paul E; Le Quellec, Sandra; Pipe, Steven W

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

患者脑类器官鉴定出 16p11.2 拷贝数变异与 RBFOX1 基因之间的联系

Milos Kostic, Joseph J Raymond, Christophe A C Freyre, Beata Henry, Tayfun Tumkaya, Jivan Khlghatyan, Jill Dvornik, Jingyao Li, Jack S Hsiao, Seon Hye Cheon, Jonathan Chung, Yishan Sun, Ricardo E Dolmetsch, Kathleen A Worringer, Robert J Ihry

Evaluating the state of the science for adeno-associated virus integration: An integrated perspective

评估腺相关病毒整合的科学现状:一个综合视角

Sabatino, Denise E; Bushman, Frederic D; Chandler, Randy J; Crystal, Ronald G; Davidson, Beverly L; Dolmetsch, Ricardo; Eggan, Kevin C; Gao, Guangping; Gil-Farina, Irene; Kay, Mark A; McCarty, Douglas M; Montini, Eugenio; Ndu, Adora; Yuan, Jing

Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study

亨廷顿病的人文负担:来自亨廷顿病疾病负担研究的证据

Rodriguez Santana, Idaira; Frank, Samuel; Doherty, Maria; Willock, Rosa; Hamilton, Jamie; Hubberstey, Hayley; Stanley, Cath; Vetter, Louise; Winkelmann, Michaela; Dolmetsch, Ricardo E; Li, Nanxin; Ratsch, Sarah; Ali, Talaha M

Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report

利用罕见变异治疗神经精神和神经发育障碍——基石研讨会报告

Cable, Jennifer; Purcell, Ryan H; Robinson, Elise; Vorstman, Jacob A S; Chung, Wendy K; Constantino, John N; Sanders, Stephan J; Sahin, Mustafa; Dolmetsch, Ricardo E; Shah, Bina Maniar; Thurm, Audrey; Martin, Christa L; Bearden, Carrie E; Mulle, Jennifer G

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

16p11.2微缺失导致人类iPSC衍生的早期神经发育模型发生转录改变

Julien G Roth # ,Kristin L Muench # ,Aditya Asokan ,Victoria M Mallett ,Hui Gai ,Yogendra Verma ,Stephen Weber ,Carol Charlton ,Jonas L Fowler ,Kyle M Loh ,Ricardo E Dolmetsch ,Theo D Palmer