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

Mendelian Randomization Uncovers Potential Repurposable Medications for Neuropsychiatric Disorders

孟德尔随机化揭示了可用于治疗神经精神疾病的潜在药物

期刊:Current Neuropharmacology
影响因子:5.3
doi:10.2174/011570159X368382250527073353
Xiao, Xiao; Li, Tingyu; Wang, Qiang; Gao, Linbo; Liu, Shanling; Zhang, Lin
发表日期：2026
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A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract

一种新的CRYBB2剪接突变与先天性白内障的晶状体细胞外基质重塑和血管改变相关

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.67.4.36
Wei, Xing; Wang, Jing; Wang, Yanyun; Zhou, Cong; Chen, Zhaoyi; Liu, Shanling; Sun, Huaqin; Zhou, Bin; Zhang, Lin
细胞生物学
白内障
发表日期：2026
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Recent advances in the detection technologies for balanced chromosomal rearrangements

平衡染色体重排检测技术的最新进展

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2026.1763846
Gao, Meng; Ren, Jun; Liu, Shanling
发表日期：2026
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PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant.

PURA 蛋白在细胞核内的错误定位：p.L148Wfs*77 PURA 变体模型中转录失调和 DNA 解旋缺陷的机制基础。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110818
Wang Yan, Wang Ping, He Jingjing, Wang He, Liu Shanling
细胞生物学
发表日期：2025
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Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene

更正：SOX5 变异导致 Lamb-Shaffer 综合征的功能表征及 SOX5 基因变异的文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04032-4
Wang, Ping; Xie, Hanbing; Xiao, Xiao; Wang, He; Wang, Yan; Liu, Shanling
SOX
发表日期：2025
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Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

对导致 Lamb-Shaffer 综合征的 SOX5 变异体进行功能表征，并对 SOX5 基因变异体进行文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03829-7
Wang Ping, Xie Hanbing, Xiao Xiao, Wang He, Wang Yan, Liu Shanling
其它
发表日期：2025
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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

染色体 1q21.1 复发性微重复的分子诊断和植入前遗传学检测

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1522406
Peng, Cuiting; Chen, Han; Zhou, Fan; Yang, Hong; Li, Yutong; Keqie, Yuezhi; Zhao, Xu; Wang, He; Hu, Ting; Liu, Shanling; Ren, Jun; Chen, Xinlian
发表日期：2025
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Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report

通过三联体全外显子组测序和影像学监测进行FBXL4基因复合杂合变异的产前诊断：病例报告

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1539288
Zhai, Yujia; Chen, Jing; Yang, Shuo; Wang, He; Xiao, Yuanyuan; Liu, Shanling
发表日期：2025
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Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China

西南地区儿童阿尔波特综合征分子诊断的靶向外显子组测序

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1580864
Zhou, Cong; Xiao, Yuanyuan; Wei, Xing; Wang, Jing; Liu, Shanling
发表日期：2025
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Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report

KAT6A基因变异引起的早发性Arboleda-Tham综合征：病例报告

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1704725
Chen, Hongbo; Yu, Dan; Liu, Shanling; Xie, Hanbing; Qiao, Lina; Liu, Hanmin; Li, Weiran
发表日期：2025
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