文献库，生知库 | 链接生命科学的每一步

日期影响因子

Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population

基于全外显子组测序的中国普通人群高频率单基因疾病携带者遗传谱分析

期刊:Human Genomics

影响因子:4.3

doi:10.1186/s40246-026-00933-y

Hao, Na; Lü, Yan; Bian, Jiaxin; Yin, Kaili; Xiao, Rou; Hu, Ping; Peng, Ying; Huang, Mingtao; Qiao, Fengchang; Xiao, Rui; Liu, Yanbo; You, Yanqin; Jiang, Yulin

发表日期：2026

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A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis

在一名患有康拉迪-胡内曼-哈普尔综合征并伴有肾积水的女孩中发现了一种新的EBP c.452A>G突变

期刊:Application of Clinical Genetics

影响因子:2.8

doi:10.2147/TACG.S513953

Qiao, Fengchang; Zeng, Huasha; Zhang, Cuiping; Wang, Yan; Wang, Yuguo; Zhou, Ran; Meng, Lulu; Hu, Ping; Xu, Zhengfeng

发表日期：2025

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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

长读长纳米孔测序确定了中国一名患有综合征性发育迟缓的女孩的 MEIS2 基因中从头发生的臂间倒位的精确断点，该倒位破坏了该基因

期刊:BMC Pediatrics

doi:10.1186/s12887-024-05267-z

Tan Jianxin, Huang Mingtao, Ji Xiuqing, Liu An, Qiao Fengchang, Zhang Cuiping, Meng Lulu, Wang Yan, Xu Zhengfeng, Hu Ping

发育与干细胞

发表日期：2025

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Subgroup analysis of imaging scans, invasive examinations and prognosis in mild-to-moderate isolated foetal cerebral ventriculomegaly: a retrospective study in China.

中国对轻度至中度孤立性胎儿脑室扩大症的影像学检查、侵入性检查和预后进行亚组分析：一项回顾性研究

期刊:Journal of International Medical Research

影响因子:1.5

doi:10.1177/03000605241301879

Yang Chun, Chi Xia, Wang Yan, Zhang Cuiping, Zhou Ran, Jia Xuemei, Qiao Fengchang, Xu Zhengfeng

发表日期：2024

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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

光学基因组图谱技术用于产前诊断中染色体畸变的检测

期刊:Acta Obstetricia et Gynecologica Scandinavica

影响因子:3.1

doi:10.1111/aogs.14613

Zhang, Qinxin; Wang, Yan; Xu, Yiyun; Zhou, Ran; Huang, Mingtao; Qiao, Fengchang; Meng, Lulu; Liu, An; Zhou, Jing; Li, Li; Ji, Xiuqing; Xu, Zhengfeng; Hu, Ping

发表日期：2023

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Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis

胚胎染色体微阵列分析后偶发性流产夫妇的生育结局

doi:10.1080/07853890.2023.2183986

Xia, Zhengyi; Zhou, Ran; Li, Yiming; Meng, Lulu; Huang, Mingtao; Tan, Jianxin; Qiao, Fengchang; Zhu, Hui; Hu, Ping; Zhu, Qiaoying; Xu, Zhengfeng; Wang, Yan

发表日期：2023

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Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.

通过全外显子组测序对患有孤立性先天性肾脏和泌尿道畸形的胎儿进行分子诊断

期刊:Journal of Clinical Laboratory Analysis

影响因子:2.9

doi:10.1002/jcla.23480

Zhou Xiaoyan, Wang Yan, Shao Binbin, Wang Chen, Hu Ping, Qiao Fengchang, Xu Zhengfeng

发表日期：2020

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An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study

一种提高游离胎儿DNA比例并显著降低无创产前筛查假阴性和检测失败率的富集方法：可行性研究

期刊:Journal of Translational Medicine

影响因子:7.5

doi:10.1186/s12967-019-1871-x

Hu, Ping; Liang, Dong; Chen, Yangyi; Lin, Ying; Qiao, Fengchang; Li, Hang; Wang, Ting; Peng, Chunfang; Luo, Donghong; Liu, Hailiang; Xu, Zhengfeng

发表日期：2019

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Downregulation of Long Non-coding RNA FALEC Inhibits Gastric Cancer Cell Migration and Invasion Through Impairing ECM1 Expression by Exerting Its Enhancer-Like Function

长链非编码RNA FALEC的下调通过发挥其增强子样功能抑制ECM1表达，从而抑制胃癌细胞的迁移和侵袭。

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2019.00255

Wu, Huazhang; Qiao, Fengchang; Zhao, Yunli; Wu, Shouwei; Hu, Minjie; Wu, Tao; Huang, Fuxin; Chen, Wenjing; Sun, Dengzhong; Liu, Mulin; Zhao, Jinsong

细胞生物学

发表日期：2019

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Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

三例超声异常胎儿的产前诊断：复发性远端1q21.1重复

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2018.00275

Ji, Xiuqing; Pan, Qiong; Wang, Yan; Wu, Yun; Zhou, Jing; Liu, An; Qiao, Fengchang; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

发表日期：2018

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