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

TRPA5 encodes a thermosensitive ankyrin ion channel receptor in a triatomine insect

TRPA5 编码锥蝽昆虫中的热敏锚蛋白离子通道受体

Marjorie A Liénard, David Baez-Nieto, Cheng-Chia Tsai, Wendy A Valencia-Montoya, Balder Werin, Urban Johanson, Jean-Marc Lassance, Jen Q Pan, Nanfang Yu, Naomi E Pierce

Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders

与精神分裂症和神经发育障碍相关的 GRIN2A 突变的不同功能后果

Nate Shepard, David Baez-Nieto, Sumaiya Iqbal, Erkin Kurganov, Nikita Budnik, Arthur J Campbell, Jen Q Pan, Morgan Sheng, Zohreh Farsi

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

Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice

Grin2a 突变小鼠的神经元和神经胶质细胞的脑区特异性变化以及多巴胺信号失调

Zohreh Farsi, Ally Nicolella, Sean K Simmons, Sameer Aryal, Nate Shepard, Kira Brenner, Sherry Lin, Linnea Herzog, Sean P Moran, Katherine J Stalnaker, Wangyong Shin, Vahid Gazestani, Bryan J Song, Kevin Bonanno, Hasmik Keshishian, Steven A Carr, Jen Q Pan, Evan Z Macosko, Sandeep Robert Datta, Bori

Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction

自闭症相关基因 CHD8 的杂合缺失通过基因表达和染色质压缩的广泛变化损害了突触功能

Xi Shi, Congyi Lu, Alba Corman, Alexandra Nikish, Yang Zhou, Randy J Platt, Ivan Iossifov, Feng Zhang, Jen Q Pan, Neville E Sanjana

Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing

利用碱基编辑技术对电压门控钠通道NaV1.2进行扫描诱变

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

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