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

A novel statistical method for interpreting the pathogenicity of rare variants

一种用于解释罕见变异致病性的新型统计方法

Wang, Jun; Liu, Hehe; Bertrand, Renae Elaine; Sarrion-Perdigones, Alejandro; Gonzalez, Yezabel; Venken, Koen J T; Chen, Rui

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

神经酰胺合成酶TLCD3B是与人类隐性视网膜营养不良相关的新基因。

Bertrand, Renae Elaine; Wang, Jun; Xiong, Kaitlyn H; Thangavel, Chinthana; Qian, Xinye; Ba-Abbad, Rola; Liang, Qingnan; Simões, Renata T; Sampaio, Shirley A M; Carss, Keren J; Lucy Raymond, F; Robson, Anthony G; Webster, Andrew R; Arno, Gavin; Porto, Fernanda Belga Ottoni; Chen, Rui

Transcript isoforms of Reep6 have distinct functions in the retina

Reep6的转录本异构体在视网膜中具有不同的功能

Liang, Qingnan; Wu, Nathaniel; Zaneveld, Smriti; Liu, Hehe; Fu, Shangyi; Wang, Keqing; Bertrand, Renae; Wang, Jun; Li, Yumei; Chen, Rui

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.

基因疗法挽救了受体表达增强蛋白 6 突变小鼠的视网膜变性

Zaneveld Smriti Agrawal, Eblimit Aiden, Liang Qingnan, Bertrand Renae, Wu Nathaniel, Liu Hehe, Nguyen Quynh, Zaneveld Jacques, Wang Keqing, Li Yumei, Chen Rui