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

Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders.

对不同人群的人类基因组以及患有精神疾病的捐赠者大脑中的复杂结构变异进行检测和分析

Zhou Bo, Arthur Joseph G, Guo Hanmin, Kim Taeyoung, Huang Yiling, Pattni Reenal, Wang Tao, Kundu Soumya, Luo Jay X J, Lee HoJoon, Nachun Daniel C, Purmann Carolin, Monte Emma M, Weimer Annika K, Qu Ping-Ping, Shi Minyi, Jiang Lixia, Yang Xinqiong, Fullard John F, Bendl Jaroslav, Girdhar Kiran, Kim Minsu, Chen Xi, Greenleaf William J, Duncan Laramie, Ji Hanlee P, Zhu Xiang, Song Giltae, Montgomery Stephen B, Palejev Dean, Zu Dohna Heinrich, Roussos Panos, Kundaje Anshul, Hallmayer Joachim F, Snyder Michael P, Wong Wing H, Urban Alexander E

Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons

精神分裂症患者来源的NRXN1突变神经元中神经递质释放障碍的跨平台验证

Pak, ChangHui; Danko, Tamas; Mirabella, Vincent R; Wang, Jinzhao; Liu, Yingfei; Vangipuram, Madhuri; Grieder, Sarah; Zhang, Xianglong; Ward, Thomas; Huang, Yu-Wen Alvin; Jin, Kang; Dexheimer, Philip; Bardes, Eric; Mitelpunkt, Alexis; Ma, Junyi; McLachlan, Michael; Moore, Jennifer C; Qu, Pingping; Purmann, Carolin; Dage, Jeffrey L; Swanson, Bradley J; Urban, Alexander E; Aronow, Bruce J; Pang, Zhiping P; Levinson, Douglas F; Wernig, Marius; Südhof, Thomas C

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

费兰-麦克德米德综合征(22q13缺失综合征)的退行性特征

Reierson, Gillian; Bernstein, Jon; Froehlich-Santino, Wendy; Urban, Alexander; Purmann, Carolin; Berquist, Sean; Jordan, Josh; O'Hara, Ruth; Hallmayer, Joachim

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

HBII-85类小核仁RNA(snoRNA)的缺失与过度摄食、肥胖和性腺功能减退有关。

de Smith, Adam J; Purmann, Carolin; Walters, Robin G; Ellis, Richard J; Holder, Susan E; Van Haelst, Mieke M; Brady, Angela F; Fairbrother, Una L; Dattani, Mehul; Keogh, Julia M; Henning, Elana; Yeo, Giles S H; O'Rahilly, Stephen; Froguel, Philippe; Farooqi, I Sadaf; Blakemore, Alexandra I F

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

DLX5 和 DLX6 的表达是双等位基因的,并且不受 MeCP2 缺陷的调节。

Schüle, Birgitt; Li, Hong Hua; Fisch-Kohl, Claudia; Purmann, Carolin; Francke, Uta