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

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

肿瘤抑制因子 FBXW7 的种系变异导致泛素化受损和神经发育综合征

Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E Alhuzaimi, James J Dowling, Susan Walker, Kimberly Amburgey, Robin Z Hayeems, Lance H Rodan, Marc A Schwartz, Jonathan Picker, Sally A Lynch, Aditi Gupta, Kristen J Rasmussen, Lisa A Schimm

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

导致洛佩斯-马西尔-罗丹综合征的突变是亨廷顿基因次等位基因

Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob Loupe, Ryan L Collins, Diane Lucente, Jayla Ruliera, Tammy Gillis, Jayalakshmi S Mysore, Lance Rodan, Jonathan Picker, Jong-Min Lee, David Howland, Ramee Lee, Seung Kwak, Marcy E MacDonald, James F Gusella, Ihn Sik Seong

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort

确认婴儿痉挛症中新生突变的贡献和遗传谱:来自中国队列的证据

Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yangyang Wang, Mengna Zhang, Yu Zhang, Jonathan Picker, Xiaodai Cui, Liping Zou, Xiaoli Chen

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

复发性 SLC1A2 变异通过显性负性机制引起癫痫

Andrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, Daniel Fuster, Giusppe Albano, Marina Troxler, Jonathan Picker, Paul A Rosenberg, Ann Bergin, Jurriaan Peters, Christelle Moufawad El Achkar, Chellamani Harini, Shannon Manzi, Alexander Rotenberg, Matthias A Hediger, Lance H Rodan

Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice

Mecp2R168X 突变小鼠中的 Ube3a mRNA 和蛋白质表达没有降低

Amy Lawson-Yuen, Daniel Liu, Liqun Han, Zhichun I Jiang, Guochuan E Tsai, Alo C Basu, Jonathan Picker, Jiamin Feng, Joseph T Coyle