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

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis.

对一种新型 TNFRSF9 变体进行临床和功能表征，该变体导致免疫失调，并易导致 EBV 驱动的淋巴瘤发生

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2025.1605221
Zhao Peiwei, Chen Kailan, Yang Li, Wan Chunhui, Zhang Lei, Luo Sukun, He Xuelian
免疫/内分泌
发表日期：2025
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Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients

20例中国患者先天性糖基化障碍的临床和遗传特征分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04075-7
Zhao, Peiwei; Tan, Li; Meng, Qingjie; Zhang, Lei; Huang, Yufeng; Zhang, Xiankai; Hu, Yanqiu; Zhou, Shiqiong; He, Xuelian
发表日期：2025
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A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

中国一名反复发热患者体内发现 CARD11 基因中一种新的致病性显性负性变异

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-71673-z
Zhao Peiwei, Meng Qingjie, Wu Yali, Zhang Lei, Zhang Xiankai, Tan Li, Ding Yan, Lu XiaoXia, He Xuelian
发表日期：2024
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Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations

HCN3基因中与癫痫相关的变异分析——功能意义和临床观察

期刊:Epilepsia Open
影响因子:2.9
doi:10.1002/epi4.13049
Zhao, Peiwei; Xiong, Hongbo; Kuang, Gunagtao; Sun, Chen; Zhang, Xiankai; Huang, Yufeng; Luo, Sukun; Zhang, Lei; Jiang, Jun; He, Xuelian
癫痫
神经科学
发表日期：2024
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Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

由PIK3CD基因突变引起的活化磷脂酰肌醇3-激酶δ综合征：表型扩展

期刊:Pediatric Rheumatology
影响因子:2.3
doi:10.1186/s12969-024-00955-7
Zhao, Peiwei; Huang, Juan; Fu, Huicong; Xu, Jiali; Li, Tianhong; Zhang, Xiankai; Meng, Qingjie; Zhang, Lei; Tan, Li; Zhang, Wen; Chen, Hebin; Lu, Xiaoxia; Ding, Yan; He, Xuelian
信号转导
发表日期：2024
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Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

鉴定出首例由17号染色体混合单亲二体性导致ALOX12B基因纯合缺失引起的先天性鱼鳞病病例

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.931833
Zhang, Lei; Hu, Yanqiu; Lu, Jingjing; Zhao, Peiwei; Zhang, Xiankai; Tan, Li; Li, Jun; Xiao, Cuiping; Zeng, Linkong; He, Xuelian
LOX
发表日期：2022
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Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

更正：鉴定出首例由17号染色体混合单亲二体导致的ALOX12B基因纯合缺失引起的先天性鱼鳞病病例

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.1036144
Zhang, Lei; Hu, Yanqiu; Lu, Jingjing; Zhao, Peiwei; Zhang, Xiankai; Tan, Li; Li, Jun; Xiao, Cuiping; Zeng, Linkong; He, Xuelian
LOX
发表日期：2022
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A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

中国CHEDDA综合征患者ATN1基因HX重复序列基序的新变异及其文献综述

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2068
Luo, Sukun; Hu, Yanqiu; Xiong, Ping; Tan, Li; Zhao, Peiwei; Huang, Yufeng; Xiao, Cuiping; Zhu, Hongmin; He, Xuelian
发表日期：2022
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A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

一名 9 个月大的中国患者，因 YY1 基因的新型种系突变而患有 Gabriele-de Vries 综合征

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1582
Tan Li, Li Ying, Liu Fan, Huang Yufeng, Luo Sukun, Zhao Peiwei, Gu Weiyue, Lin Jun, Zhou Aifen, He Xuelian
其它
发表日期：2021
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Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

一例伴有16p13.11微缺失和NDE1基因突变的严重先天性小头畸形病例报告及文献综述

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-017-0501-9
Tan, Li; Bi, Bo; Zhao, Peiwei; Cai, Xiaonan; Wan, Chunhui; Shao, Jianbo; He, Xuelian
发表日期：2017
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