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

Case Report: Prenatal imaging and genetic integrated diagnosis of SCN2A encephalopathy-a case of cryptical cortical dysplasia caused by a loss-of-function frameshift genetic variant

病例报告：SCN2A脑病的产前影像学和基因整合诊断——一例由功能缺失性移码基因变异引起的隐匿性皮质发育不良病例

期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2026.1698102
Zhu, Linyan; Chen, Mei; Ding, Huiqing; Dong, Minyue
发育与干细胞
神经科学
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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Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence

全基因组序列鉴定出第二个等位基因：RYR1基因内含子变异导致早发性胎儿运动不能畸形序列

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000550111
Wang, Miaomiao; Hong, Jiawei; Han, Shuning; Jin, Pengzhen; Xu, Chunfei; Qian, Yeqing; Dong, Minyue
RYR
RYR1
发表日期：2026
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Case Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene

病例报告：产前诊断由TTC7A基因复合杂合突变引起的胃肠道缺陷和免疫缺陷综合征

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2025.1611155
Han, Shuning; Wang, Miaomiao; Jin, Pengzhen; Hong, Jiawei; Xu, Chunfei; Dong, Minyue
免疫/内分泌
发表日期：2025
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Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection

低通全基因组测序（WGS）检测小拷贝数变异（CNV）的灵敏度和分辨率性能测试

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02263-9
Huang, Shuhui; Li, Juan; Liu, Danping; Zou, Yongyi; Hang, Tingting; Yuan, Huizhen; Yang, Yun; Li, Hao; Dong, Minyue; Qian, Yeqing; Sun, Yan; Huang, Chuan; Bai, Guiqin
发表日期：2025
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Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases

验证和深入评估基于循环神经网络的超低深度基因组测序在检测杂合性缺失方面的应用：一项包含409例病例的多中心研究

期刊:Clinical and Translational Medicine
影响因子:6.8
doi:10.1002/ctm2.1752
Qian, Yeqing; Zhu, Jianjun; Tang, Zhiguo; Sun, Yan; Wang, Zhonghua; Tang, Fei; Yang, Yun; Fan, Linlin; Sun, Yixi; Liu, Bei; Chen, Min; Luo, Yuqin; Hu, Junjie; Yan, Kai; Man, Jianfen; Wang, Lina; Jia, Cangcang; Tang, Ping; Zhu, Xinyi; Wang, Chaohong; Tang, Junxiang; Xia, Yuanyuan; Guo, Xueqin; Zhang, Kang; Wang, Xiaoli; Li, Suping; Song, Lijie; Zhu, Jiansheng; Dong, Minyue
发表日期：2024
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Identification of four TTN variants in three families with fetal akinesia deformation sequence

在三个患有胎儿运动不能畸形序列的家族中鉴定出四种 TTN 变异体

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-024-01946-z
Fan, Lihong; Li, Haibo; Xu, Ying; Huang, Yingzhi; Qian, Yeqing; Jin, Pengzhen; Shen, Xueping; Li, Zhi; Liu, Mingsong; Liang, Yufei; Shen, Guosong; Dong, Minyue
发表日期：2024
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

F7基因第3外显子末端核苷酸的同义变异导致异常剪接：病例报告

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2492
Wang, Liya; Zeng, Wenshan; Qian, Yeqing; Sun, Yixi; Chen, Min; Liu, Bei; Hu, Junjie; Yu, Ping; Dong, Minyue
发表日期：2024
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Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation

对两例因不平衡易位导致17q25重复的同胞病例进行临床和分子细胞遗传学特征分析。

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000538979
Chen, Na; Zeng, Wenshan; Luo, Yuqin; Dong, Minyue
细胞生物学
发表日期：2024
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Integrated Bioinformatics Analysis to Screen Hub Gene Signatures for Fetal Growth Restriction

整合生物信息学分析筛选胎儿生长受限的关键基因特征

期刊:Genetics Research
影响因子:2.1
doi:10.1155/2023/3367406
Yang, Jingjin; Liu, Yuxin; Dong, Minyue
发表日期：2023
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