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

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Anti-seizure gene therapy for focal cortical dysplasia

针对局灶性皮质发育不良的抗癫痫基因疗法

Almacellas Barbanoj, Amanda; Graham, Robert T; Maffei, Benito; Carpenter, Jenna C; Leite, Marco; Hoke, Justin; Hardjo, Felisia; Scott-Solache, James; Chimonides, Christos; Schorge, Stephanie; Kullmann, Dimitri M; Magloire, Vincent; Lignani, Gabriele

Results of a randomized phase II trial of paclitaxel and carboplatin versus bleomycin, etoposide and cisplatin for newly diagnosed and recurrent Chemonaive stromal ovarian tumors: An NRG oncology/gynecologic oncology group study14

一项随机II期试验的结果比较了紫杉醇联合卡铂与博来霉素、依托泊苷联合顺铂治疗新诊断和复发性化疗未治愈的卵巢间质肿瘤的疗效:NRG肿瘤/妇科肿瘤组研究14

Brown, Jubilee; Miller, Austin; Holman, Laura L; Backes, Floor; Nagel, Christa; Bender, David; Miller, David S; Powell, Matthew A; Westin, Shannon N; Bonebrake, Albert; Muller, Carolyn Y; Secord, Angeles Alvarez; Crane, Erin; Schorge, John; Tew, William P; Sood, Anil K; Bookman, Michael A; Aghajanian, Carol; Gershenson, David M

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

离子通道的保守模式与变异致病性和临床表型相关

Brünger, Tobias; Pérez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Møller, Rikke S; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R; Brunklaus, Andreas; Traynelis, Stephen F; May, Patrick; Lal, Dennis

Minimally invasive interval debulking surgery for advanced ovarian cancer after neoadjuvant chemotherapy

新辅助化疗后晚期卵巢癌的微创间隔减瘤手术

Jorgensen, Kirsten; Melamed, Alexander; Wu, Chi-Fang; Nitecki, Roni; Pareja, Rene; Fagotti, Anna; Schorge, John O; Ramirez, Pedro T; Rauh-Hain, Jose Alejandro

On-demand cell-autonomous gene therapy for brain circuit disorders

针对脑回路疾病的按需细胞自主基因疗法

Qiu, Yichen; O'Neill, Nathanael; Maffei, Benito; Zourray, Clara; Almacellas-Barbanoj, Amanda; Carpenter, Jenna C; Jones, Steffan P; Leite, Marco; Turner, Thomas J; Moreira, Francisco C; Snowball, Albert; Shekh-Ahmad, Tawfeeq; Magloire, Vincent; Barral, Serena; Kurian, Manju A; Walker, Matthew C; Schorge, Stephanie; Kullmann, Dimitri M; Lignani, Gabriele

Gene variant effects across sodium channelopathies predict function and guide precision therapy

钠通道病中基因变异的影响可预测功能并指导精准治疗

Brunklaus, Andreas; Feng, Tony; Brünger, Tobias; Perez-Palma, Eduardo; Heyne, Henrike; Matthews, Emma; Semsarian, Christopher; Symonds, Joseph D; Zuberi, Sameer M; Lal, Dennis; Schorge, Stephanie

A novel synaptopathy-defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia

CHMP2B 突变小鼠额颞叶痴呆模型中存在一种新的突触病缺陷型突触囊泡蛋白运输

Emma L Clayton, Katherine Bonnycastle, Adrian M Isaacs, Michael A Cousin, Stephanie Schorge

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

进行性肌阵挛性癫痫 KCNC1 变异导致发育性树突状病变

Jenna C Carpenter, Roope Männikkö, Catherine Heffner, Jana Heneine, Marisol Sampedro-Castañeda, Gabriele Lignani, Stephanie Schorge

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy

神经发育障碍伴癫痫的基因治疗最新进展

Turner, Thomas J; Zourray, Clara; Schorge, Stephanie; Lignani, Gabriele