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

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family

中国某家族中发现一种新的韦尔-马尔凯萨尼综合征纯合ADAMTS10移码变异

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-026-02308-7
Li, Mengyang; Bai, Rong; Lian, Yuanyuan; Shu, Can; Li, Huiping; Sheng, Xunlun
ADA
发表日期：2026
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Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families

对47个中国家族进行全外显子组测序，以寻找与早发性高度近视相关的候选基因和潜在致病变异。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-95574-x
Rui, Xue; Li, Huiping; Ma, Runqing; Yang, Shangying; Lian, Yuanyuan; Cheng, Wanyu; Ma, Meijiao; Rong, Weining; Sheng, Xunlun
发表日期：2025
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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants

17个中国家族因纯合变异而患有遗传性视网膜营养不良的基因型-表型相关性分析

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-87844-5
Fan, Xue; Li, Zhen; Sha, Lingzhi; Sheng, Xunlun; Rong, Weining
发表日期：2025
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Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up

PNPLA6基因新变异导致中国某家族罹患奥利弗-麦克法兰综合征：13年随访

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1693876
Xiao, Panpan; Gu, Yonghua; Qi, Xiaolong; Li, Ting; Zuo, Tingting; Xie, Yule; Zhang, Shuang; Sheng, Xunlun
发表日期：2025
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Clinical characteristics and risk factors for readmission after deep anterior lamellar keratoplasty: a nationwide, cross-sectional, multicenter study

深层前板层角膜移植术后再入院的临床特征和危险因素：一项全国性、横断面、多中心研究

期刊:BMC Ophthalmology
影响因子:1.7
doi:10.1186/s12886-025-04010-1
Wang, Chenxi; Xie, He; Sun, Binjia; Tang, Kexin; Wang, Haiou; Zhao, Zelin; Zheng, Qinxiang; Wu, Jie; Zhang, Qi; Chen, Baihua; Dong, He; Yang, Jizhong; Liu, Hai; Wen, Feng; Sun, Tao; Xue, Jinsong; Zhao, Shaozhen; Chen, Limin; Liu, Zhirong; Yang, Yanning; Sheng, Xunlun; Wu, Pengcheng; Han, Yuping; Qiang, Wei; Xie, Qi; Xu, Yingnan; Liu, Hui; Yu, Man; Huang, Linying; Li, Huiping; Wei, Ruifen; Wang, Minye; Chen, Gang; Cheng, Yan; Chen, Wei
发表日期：2025
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A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

中国某家族中一种新型ABHD12基因复合杂合变异导致PHARC综合征：先证者表现出新的基因型和表型

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70055
Ma, Meijiao; Ma, Jinhai; Lian, Yuanyuan; Wu, Xueli; Wang, Wenming; Rong, Weining; Sheng, Xunlun
ARC
发表日期：2025
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Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype

对六个中国常染色体显性遗传性圆锥角膜家族的致病变异进行鉴定：致病性分析和表型变异

期刊:International Ophthalmology
影响因子:1.4
doi:10.1007/s10792-025-03740-x
Huang, Xiaoyu; Ma, Meijiao; Chen, Xiaofei; Lian, Yuanyuan; Li, Huiping; Sheng, Xunlun
发表日期：2025
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MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

MFRP基因变异导致五个中国家族出现小眼畸形，且表型各异。

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1407361
Li, Zhen; Ma, Runqing; Ma, Meijiao; Xiao, Xue; Qi, Xiaolong; Ma, Hongjuan; Sheng, Xunlun; Rong, Weining
发表日期：2024
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Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

外显子组测序证实了汉族家族中同时患有Joubert综合征和Klinefelter综合征伴圆锥角膜的临床诊断。

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1417584
Fang, Xinhe; Ma, Meijiao; Rong, Weining; Lian, Yuan-Yuan; Wu, Xueli; Gao, Yongying; Li, Hui-Ping; Sheng, Xunlun
发表日期：2024
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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

中国一个家族中，ARID1B基因的新生突变导致Coffin-Siris综合征1型，并伴有早发性高度近视。

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-024-01904-9
Huang, Xiaoyu; Li, Huiping; Yang, Shangying; Ma, Meijiao; Lian, Yuanyuan; Wu, Xueli; Qi, Xiaolong; Wang, Xuhui; Rong, Weining; Sheng, Xunlun
ID1
发表日期：2024
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