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

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study

评估光学基因组图谱在产前诊断中的有效性：一项回顾性队列研究

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-025-06901-9
Yin, Kaili; Lü, Yan; Zhang, Hanzhe; Li, Mengmeng; Chang, Jiazhen; Yang, Xueting; Qi, Qingwei; Zhou, Xiya; Guo, Jiangshan; Wang, Yaru; Wang, Cuixia; Li, Wei; Hao, Na; Jiang, Yulin
发表日期：2026
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Addressing the diagnostic gap through deep phenotyping

通过深度表型分析解决诊断差距

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00925-y
Li, John Guozhuang; Xu, Kexin; Xiao, Bin; Li, Jingnan; Zhu, Yi-Cheng; Jin, Hongzhong; Qi, Qingwei; Wang, Lianlei; Zhao, Lina; Wu, Zhihong; Zhao, Sen; Zhang, Terry Jianguo; Wu, Nan
发表日期：2026
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Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis

Xq28重复而非F8倒位：综合基因重新分析重新定义了产前携带者诊断

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-026-43654-x
Yang, Xueting; Maimaiti, Subinuer; Qi, Qingwei; Zhou, Xiya; Hao, Na; Chang, Jiazhen; Li, Mengmeng; Yin, Kaili; Lü, Yan; Jiang, Yulin
发表日期：2026
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Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

对存在结构异常的胎儿进行产前外显子组测序分析：一项具有实际意义的多中心前瞻性队列研究

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.70006
Jiang, Yulin; Li, Haibo; Zhu, Xiangyu; Xu, Liangpu; Chang, Ying; Dong, Fengqun; Xiao, Jianping; Gao, Jian; Dong, Minyue; Peng, Ying; Jin, Hua; Wang, Ting; Xie, Xiaoxiao; Zhang, Lin; Zhuang, Hongmei; Hao, Na; Zhou, Xiya; Wang, Hongna; You, Ying; Ma, Kun; Xiao, Rui; Qi, Qingwei
发表日期：2026
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Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

生化检测有助于解读四种有机酸尿症产前遗传疾病检测中意义未明的变异。

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.70086
Yin, Kaili; Qi, Qingwei
发表日期：2026
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A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control

一项关于产前光学基因组图谱绘制过程的方法学研究：重点关注细胞培养和质量控制

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-026-00746-7
Yang, Xueting; Yin, Kaili; Li, Mengmeng; Zhou, Jing; Zhang, Hanzhe; Qi, Qingwei; Zhou, Xiya; Jiang, Yulin; Wang, Yaru; Hao, Na
Cell Culture
细胞生物学
发表日期：2026
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Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling

利用光学基因组图谱技术解读寻求孕前遗传咨询家庭的染色体畸变

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-86828-9
Yin, Kaili; Li, Mengmeng; Zhang, Hanzhe; Chang, Jiazhen; Qi, Qingwei; Zhou, Xiya; Guo, Jiangshan; Wang, Yaru; Mao, Xuequn; Hao, Na; Jiang, Yulin
发表日期：2025
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Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy

在孕前或孕早期通过扩大携带者筛查偶然发现潜在受影响个体

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.6859
Lü, Yan; Chang, Jiazhen; Jiang, Yulin; Zhou, Xiya; Hao, Na; Yu, Yiqing; Li, Mengmeng; Yin, Kaili; Yang, Xueting; Qi, Qingwei
发表日期：2025
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Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq

CMA-seq检测到的嵌合体在产前诊断和妊娠结局中的应用

期刊:BMC Pregnancy and Childbirth
影响因子:2.7
doi:10.1186/s12884-025-08018-9
Chang, Jiazhen; Li, Mengmeng; Jiang, Yulin; Zhou, Xiya; Hao, Na; Yu, Yiqing; Lü, Yan; Qi, Qingwei
发表日期：2025
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Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

先天性膈疝胎儿的基因诊断和临床特征

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.6727
Lü, Yan; Yu, Yi; Chang, Jiazhen; Li, Mengmeng; Yang, Xueting; Zhou, Xiya; Hao, Na; Meng, Hua; Li, Zhenghong; Ma, Lishuang; You, Hui; Jian, Shan; Wang, Ying; Li, Shengjie; Yu, Yiqing; Yin, Kaili; Wang, Mingming; Jiang, Yulin; Qi, Qingwei
发表日期：2025
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