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

Whole exome sequencing: a new era in prenatal diagnostics

全外显子组测序：产前诊断的新时代

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-026-07899-4
Shi, Panlai; Wang, Conghui; Xia, Yanjie; Li, Zili; Gao, Zhi; Kong, Xiangdong
发表日期：2026
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The hidden causes of pregnancy loss: a closer look

妊娠丢失的隐性原因：深入探究

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-025-06678-x
Shi, Panlai; Wang, Conghui; Liang, Hongbin; Zhu, XiaoFan; Wang, Xinyan; Ning, Yanting; Leigh, Don; Cram, David S; Kong, Xiangdong
发表日期：2025
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Correction: The hidden causes of pregnancy loss: a closer look

更正：妊娠丢失的隐性原因：深入探究

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-025-06780-0
Shi, Panlai; Wang, Conghui; Liang, Hongbin; Zhu, XiaoFan; Wang, Xinyan; Ning, Yanting; Leigh, Don; Cram, David S; Kong, Xiangdong
发表日期：2025
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Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study

靶向扩增子测序技术在单亲二体相关印记障碍胎儿中的临床应用价值：一项多中心研究

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-025-07329-x
Liu, Ning; Huang, Shengwen; Zhang, Bin; Zhou, Yi; Jin, Chunyan; Sun, Ping; Yang, Lan; Wang, Xueyan; Hu, Yueyue; Jin, Hua; Wang, Bing; Chen, Shuangfeng; Yang, Xue; Li, Jie; Sun, Xuejing; Liu, Weiqiang; Wei, Youhua; Mu, Kai; Liu, Lina; Feng, Yin; Shi, Panlai; Kong, Xiangdong
Sequencing
发表日期：2025
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Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.

用于 21-羟化酶缺乏症全面基因分析的新型快速分子诊断方法

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03414-4
Xia Yanjie, Yu Feng, Bai Ying, Jiang Lili, Shi Panlai, Jiang Zhengwen, Kong Xiangdong
其它
发表日期：2024
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Next-generation variant exon screening: Moving forward in routine genetic disease investigations

新一代变异外显子筛查：推进常规遗传疾病检测

期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2024.101816
Wang, Conghui; Shi, Panlai; Liang, Hongbin; Cram, David S; Leigh, Donald A; Kong, Xiangdong
发表日期：2024
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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

中国485例A型血友病家庭的F8基因突变分析及产前诊断

期刊:Haemophilia
影响因子:3
doi:10.1111/hae.14206
Feng, Yin; Li, Qianqian; Shi, Panlai; Liu, Ning; Kong, Xiangdong; Guo, Ruixia
发表日期：2021
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Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

通过全外显子组测序和长读长全基因组测序，鉴定出杜氏肌营养不良基因中新的第51号外显子部分缺失

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2021.762987
Li, Qianqian; Chen, Zhanni; Xiong, Hui; Li, Ranran; Yu, Chenguang; Meng, Jingjing; Shi, Panlai; Kong, Xiangdong
发表日期：2021
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Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

一个家族中8p23.3p22重复的产前和产后诊断及表型

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-00940-z
Shi, Panlai; Wang, Conghui; Zheng, Yuting; Kong, Xiangdong
发表日期：2021
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Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

在排除单基因疾病后，拷贝数变异检测在产前诊断中的作用

期刊:Journal of Obstetrics and Gynaecology Research
影响因子:1.5
doi:10.1111/jog.14627
Shi, Panlai; Xia, Yanjie; Li, Qianqian; Kong, Xiangdong
发表日期：2021
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