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

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing

评估和管理通过产前SNP芯片检测发现的DMD基因拷贝数变异

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-026-02333-6
Hu, Jiancheng; Pang, Jialun; Hu, Rong; Zhou, Lin; Yu, Wenxian; Xi, Hui; Luo, Yingchun; Yang, Shuting; Tang, Wanglan; Hu, Ai; Chen, Jing; Peng, Ying
DMD
发表日期：2026
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Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases

超声检查发现胎儿心脏横纹肌瘤的全外显子组测序：12例病例分析

期刊:BMC Pregnancy and Childbirth
影响因子:2.7
doi:10.1186/s12884-025-08365-7
Liu, Jing; He, Jun; Tang, Wanglan; Chen, Jing; Luo, Yingchun; Li, Haoxian; Li, Zhuo; Wu, Lingqian
发表日期：2025
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Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.

一系列胎儿椎体缺陷病例的超声和基因检测结果

期刊:BMC Pregnancy and Childbirth
影响因子:2.7
doi:10.1186/s12884-025-07920-6
Xie Wanqin, Zhou Lin, Hu Ai, Chen Jing, Pang Jialun, Xi Hui, Luo Yingchun, Hu Jiancheng, Yang Shuting, Gao Xiaoyang, Kuang Hanzhe, Tang Wanglan, Liu Rui, Wang Silong, Peng Ying
其它
发表日期：2025
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A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases

一种与X连锁隐性点状软骨发育不良1型相关的ARSL基因移码缺失变异：病例报告及产前确诊病例的文献综述

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-024-02029-9
Zhou, Lin; Peng, Ying; Chen, Jing; Xi, Hui; Wang, Si; Kang, Gehua; Tang, Wanglan; Xie, Wanqin
发育与干细胞
发表日期：2024
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Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report

中国一个反复流产家族中发现两种新的TMEM67变异：病例报告

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-024-01902-x
Pang, Jialun; Kong, Fanjuan; Tang, Wanglan; Xi, Hui; Ma, Na; Sheng, Xiaoqi; Peng, Ying; Liu, Zhiyu
流产
发表日期：2024
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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

病例报告：多种基因检测方法检测胎儿9号染色体三体嵌合体：两例报告

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1121121
Ma, Na; Zhu, Zhenhua; Hu, Jiancheng; Pang, Jialun; Yang, Shuting; Liu, Jing; Chen, Jing; Tang, Wanglan; Kuang, Haiyan; Hu, Rong; Li, Zhuo; Wang, Hua; Peng, Ying; Xi, Hui
发表日期：2023
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Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

产前骨骼纤毛病病例系列的临床特征和基因分析

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-023-01753-y
Peng, Ying; Zhou, Lin; Chen, Jing; Huang, Xiaoliang; Pang, Jialun; Liu, Jing; Tang, Wanglan; Yang, Shuting; Liang, Changbiao; Xie, Wanqin
发表日期：2023
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