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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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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Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Houge-Janssens综合征2型的产前特征：病例报告及与PPP2R1A突变相关的胎儿表型系统综述

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70129
Hu, Jiancheng; Pang, Jialun; Zhou, Lin; Kuang, Haiyan; Yu, Wenxian; Peng, Ying
发表日期：2025
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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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Identification of rare thalassemia variants using third-generation sequencing

利用第三代测序技术鉴定罕见地中海贫血变异体

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.1076035
Liu, Qin; Chen, Qianting; Zhang, Zonglei; Peng, Shiyi; Liu, Jing; Pang, Jialun; Jia, Zhengjun; Xi, Hui; Li, Jiaqi; Chen, Libao; Liu, Yinyin; Peng, Ying
代谢
Sequencing
贫血
发表日期：2022
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Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

病例报告：新型NIPBL变异导致中国患者患上科内莉亚·德·兰格综合征

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2021.699894
Peng, Ying; Liang, Changbiao; Xi, Hui; Yang, Shuting; Hu, Jiancheng; Pang, Jialun; Liu, Jing; Luo, Yingchun; Tang, Chengyuan; Xie, Wanqin; Wang, Hua
NIPBL
发表日期：2021
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Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

整合CNV测序、核型分析和SNP芯片分析，有效进行染色体嵌合体产前诊断

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-00899-x
Ma, Na; Xi, Hui; Chen, Jing; Peng, Ying; Jia, Zhengjun; Yang, Shuting; Hu, Jiancheng; Pang, Jialun; Zhang, Yanan; Hu, Rong; Wang, Hua; Liu, Jing
发表日期：2021
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Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

全基因组测序揭示了导致中国某家族手足分裂畸形的TP63基因易位断点。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1604
Peng, Ying; Yang, Shuting; Xi, Hui; Hu, Jiancheng; Jia, Zhengjun; Pang, Jialun; Liu, Jing; Yu, Wenxian; Tang, Chengyuan; Wang, Hua
发表日期：2021
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