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

CRISPR activation for SCN2A-related neurodevelopmental disorders

CRISPR激活治疗SCN2A相关神经发育障碍

Tamura, Serena; Nelson, Andrew D; Spratt, Perry W E; Hamada, Elizabeth C; Zhou, Xujia; Kyoung, Henry; Li, Zizheng; Arnould, Coline; Barskyi, Vladyslav; Krupkin, Beniamin; Young, Kiana; Zhao, Jingjing; Holden, Stephanie S; Sahagun, Atehsa; Keeshen, Caroline M; Lu, Congyi; Ben-Shalom, Roy; Taloma, Sunrae E; Schamiloglu, Selin; Li, Ying C; Min, Lia; Jenkins, Paul M; Pan, Jen Q; Paz, Jeanne T; Sanders, Stephan J; Matharu, Navneet; Ahituv, Nadav; Bender, Kevin J

A spectrum of altered non-rapid eye movement sleep in schizophrenia

精神分裂症患者非快速眼动睡眠改变谱

Kozhemiako, Nataliia; Jiang, Chenguang; Sun, Yifan; Guo, Zhenglin; Chapman, Sinéad; Gai, Guanchen; Wang, Zhe; Zhou, Lin; Li, Shen; Law, Robert G; Wang, Lei A; Mylonas, Dimitrios; Shen, Lu; Murphy, Michael; Qin, Shengying; Zhu, Wei; Zhou, Zhenhe; Stickgold, Robert; Huang, Hailiang; Tan, Shuping; Manoach, Dara S; Wang, Jun; Hall, Mei-Hua; Pan, Jen Q; Purcell, Shaun M

Scanning mutagenesis of the voltage-gated sodium channel Na(V)1.2 using base editing

利用碱基编辑技术对电压门控钠通道Na(V)1.2进行扫描诱变

Pablo, Juan Lorenzo B; Cornett, Savannah L; Wang, Lei A; Jo, Sooyeon; Brünger, Tobias; Budnik, Nikita; Hegde, Mudra; DeKeyser, Jean-Marc; Thompson, Christopher H; Doench, John G; Lal, Dennis; George, Alfred L Jr; Pan, Jen Q

Electroencephalographic Microstates During Sleep and Wake in Schizophrenia.

精神分裂症患者睡眠和清醒状态下的脑电图微状态

Murphy Michael, Jiang Chenguang, Wang Lei A, Kozhemiako Nataliia, Wang Yining, Wang Jun, Pan Jen Q, Purcell Shaun M

Study Protocol: Global Research Initiative on the Neurophysiology of Schizophrenia (GRINS) project

研究方案:精神分裂症神经生理学全球研究计划(GRINS)项目

Wang, Jun; Jiang, Chenguang; Guo, Zhenglin; Chapman, Sinéad; Kozhemiako, Nataliia; Mylonas, Dimitrios; Su, Yi; Zhou, Lin; Shen, Lu; Qin, Shengying; Murphy, Michael; Tan, Shuping; Manoach, Dara S; Stickgold, Robert; Huang, Hailiang; Zhou, Zhenhe; Purcell, Shaun M; Hall, Meihua; Hyman, Steven E; Pan, Jen Q

A Potential Source of Bias in Group-Level EEG Microstate Analysis

群体水平脑电微状态分析中潜在的偏差来源

Murphy, Michael; Wang, Jun; Jiang, Chenguang; Wang, Lei A; Kozhemiako, Nataliia; Wang, Yining; Pan, Jen Q; Purcell, Shaun M

Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients

携带精神分裂症风险基因GRIN2A和AKAP11突变的小鼠表现出与精神分裂症患者相似的脑电图异常。

Herzog, Linnea E; Wang, Lei; Yu, Eunah; Choi, Soonwook; Farsi, Zohreh; Song, Bryan J; Pan, Jen Q; Sheng, Morgan

Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort

分析瑞典精神分裂症患者队列中 CACNA1I 罕见错义变异的等位基因系列

Baez-Nieto, David; Allen, Andrew; Akers-Campbell, Seth; Yang, Lingling; Budnik, Nikita; Pupo, Amaury; Shin, Young-Cheul; Genovese, Giulio; Liao, Maofu; Pérez-Palma, Eduardo; Heyne, Henrike; Lal, Dennis; Lipscombe, Diane; Pan, Jen Q

AKT inhibition in the central nervous system induces signaling defects resulting in psychiatric symptomatology

中枢神经系统中AKT的抑制会导致信号传导缺陷,从而引起精神症状。

Tsimberidou, Apostolia-Maria; Skliris, Antonis; Valentine, Alan; Shaw, Jamie; Hering, Ursula; Vo, Henry Hiep; Chan, Tung On; Armen, Roger S; Cottrell, Jeffrey R; Pan, Jen Q; Tsichlis, Philip N