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

Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion disease.

利用 CRISPR/Cas9 技术精确切除 NOTCH2NLC 中扩增的 GGC 重复序列，用于治疗神经元核内包涵体病。

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-026-68385-5
Xie Nina, Pan Yongcheng, Tong Huichun, Lin Yingqi, Jiang Ying, Wang Zhiqin, Wan Juan, Zhang Wendiao, Wang Xinhui, Sun Xiaobo, Yan Sen, Yin Peng, Sun Qiying, Qi Chengzhi, Tian Yun, Shen Lu, Jiang Hong, Liang Desheng, Tang Beisha, Li Shihua, Li Xiao-Jiang, Liu Qiong
神经科学
OTC
CAS9
NOTCH
Notch
发表日期：2026
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Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns

利用长读长测序技术对21239名新生儿进行先天性肾上腺皮质增生症的基因特征分析和筛查

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01594-7
Liang, Desheng; Zhu, Min; Liang, Qiaowei; Qiang, Rong; Yu, Lei; Xu, Shiyi; Li, Menglin; Song, Jieping; Zhou, Yulin; He, Xiaoyan; Huang, Yonglan; Jin, Hua; Tan, Jianqiang; Liu, Hui; Xia, Aihua; Liu, Yingdi; Liu, Peisen; Li, Zhuo; Wang, Ruifang; Wang, Dongjuan; Zhang, Ruixue; Pu, Qian; Zhou, Jinfu; Xu, Runhong; Wang, Xudong; Tan, Minyi; Chen, Dayu; Wu, Chaoyan; Cui, Di; Mao, Aiping; Zhou, Wenhao; Qiu, Wenjuan; Wu, Lingqian
Sequencing
免疫/内分泌
发表日期：2025
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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

寡基因效应与常染色体显性遗传性耳聋的临床异质性相关-15

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-85881-8
Pan, Jianyan; Teng, Hua; Liu, Fang; Chen, Siyi; Liu, Yaning; Teng, Yanling; Liang, Desheng; Li, Zhuo; Wu, Lingqian
发表日期：2025
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Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.

CNNM2 中的两个新变异会破坏镁离子外流，导致神经发育障碍

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1600877
Li Huijuan, Liu Jing, Liu Yingdi, Liu Yaning, Lu Kehui, Wen Juan, Zhu Huimin, Liang Desheng, Li Zhuo, Wu Lingqian
神经科学
发表日期：2025
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A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications

一名患有45,X/46,XY嵌合体且完全性性腺发育不全的女性，在接受卵子捐赠并克服多次妊娠并发症后，成功分娩，实属罕见。

期刊:Journal of Assisted Reproduction and Genetics
影响因子:2.7
doi:10.1007/s10815-025-03394-9
Luo, Yingliu; Liao, Xi; Wen, Juan; Wu, Weijuan; Tang, Guizhi; Zhu, Huimin; Jiang, Yulin; Liang, Desheng; Li, Zhuo; Wu, Lingqian
发育与干细胞
免疫/内分泌
发表日期：2025
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PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation

PIGK缺陷诱导浦肯野细胞凋亡并加速神经外胚层分化

期刊:Cell Death & Disease
影响因子:9.6
doi:10.1038/s41419-024-07201-8
Chen, Siyi; You, Jiali; Zhou, Xiaowei; Li, Yan; Liu, Fang; Teng, Yanling; Teng, Hua; Li, Yunlong; Liang, Desheng; Li, Zhuo; Wu, Lingqian
细胞生物学
凋亡
表观遗传
发表日期：2024
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Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals

对中国南方和西南地区基于NGS的扩展型携带者筛查和随访进行综合分析：来自3024名中国个体的结果

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00680-y
Huang, Qinlin; Wen, Juan; Zhang, Hongyun; Teng, Yanling; Zhang, Wen; Zhu, Huimin; Liang, Desheng; Wu, Lingqian; Li, Zhuo
发表日期：2024
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Application of whole exome sequencing in carrier screening for high-risk families without probands

全外显子组测序在无先证者高危家族携带者筛查中的应用

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1415811
Huang, Qinlin; Wang, Zhongjie; Teng, Yanling; Zhang, Wen; Wen, Juan; Zhu, Huimin; Liang, Desheng; Wu, Lingqian; Li, Zhuo
发表日期：2024
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Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies

脊髓性肌萎缩症患者的运动模式提示感觉和皮质脊髓束对运动肌协同作用的形成有贡献

期刊:Journal of Neurophysiology
影响因子:2.1
doi:10.1152/jn.00513.2022
Cheung, Vincent C K; Ha, Sophia C W; Zhang-Lea, Janet H; Chan, Zoe Y S; Teng, Yanling; Yeung, Geshi; Wu, Lingqian; Liang, Desheng; Cheung, Roy T H
神经科学
肌萎缩症
发表日期：2024
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Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing

A型血友病综合分析（CAHEA）：利用长读长测序技术全面表征F8基因变异

期刊:Thrombosis and Haemostasis
影响因子:4.3
doi:10.1055/a-2107-0702
Liu, Yingdi; Li, Dongzhi; Yu, Dongyi; Liang, Qiaowei; Chen, Guilan; Li, Fucheng; Gao, Lu; Li, Zhuo; Xie, Tiantian; Wu, Le; Mao, Aiping; Wu, Lingqian; Liang, Desheng
Sequencing
发表日期：2023
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