Works matching AU Zhang, Victor Wei

Results: 49

Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.

Published in:

2017

By:

Ping Yuan;
Zuyong He;
Lingyan Zheng;
Wenjun Wang;
Yu Li;
Haijing Zhao;
Victor Wei Zhang;
Qingxue Zhang;
Dongzi Yang;
Yuan, Ping;
He, Zuyong;
Zheng, Lingyan;
Wang, Wenjun;
Li, Yu;
Zhao, Haijing;
Zhang, Victor Wei;
Zhang, Qingxue;
Yang, Dongzi

Publication type:

journal article

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

Published in:

2018

By:

Wenxia Zheng;
Zhenxing Yan;
Rongni He;
Yaowei Huang;
Aiqun Lin;
Wei Huang;
Yuying Su;
Shaoyuan Li;
Victor Wei Zhang;
Huifang Xie;
Zheng, Wenxia;
Yan, Zhenxing;
He, Rongni;
Huang, Yaowei;
Lin, Aiqun;
Huang, Wei;
Su, Yuying;
Li, Shaoyuan;
Zhang, Victor Wei;
Xie, Huifang

Publication type:

journal article

A non-invasive method for screening mitochondrial diabetes.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1536331

By:

Fang, Hangyu;
Li, Xiaoe;
Wang, Shuping;
Zhang, Mei;
Zhang, Victor Wei;
Xu, Chao

Publication type:

Article

Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1335, doi. 10.1002/pd.6635

By:

Liu, Sha;
Huang, Shuang;
Zhang, Victor Wei;
Cao, Liyuan;
Liu, Haipeng;
Wei, Xiang;
Luo, Yuan;
Li, Yue;
Zhou, Lin;
Li, Fuping;
Zhu, Qian;
Liu, Hongqian

Publication type:

Article

Exome‐based preconception carrier testing for consanguineous couples in China.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 11, p. 1425, doi. 10.1002/pd.6018

By:

He, Yi;
Xie, Run‐Gui;
Lou, Ji‐Wu;
Li, Yan‐Wei;
Wang, Chun‐Li;
Zhang, Victor Wei;
Li, Dong‐Zhi

Publication type:

Article

Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 2, p. 207, doi. 10.1002/pd.5850

By:

Zhen, Li;
Guo, Jie;
Jiang, Fan;
Xu, Li‐Li;
Zhang, Victor Wei;
Li, Dong‐Zhi

Publication type:

Article

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Published in:

2020

By:

Han, Jin;
Yang, Yan‐Dong;
He, Yi;
Liu, Wen‐Jie;
Zhen, Li;
Pan, Min;
Yang, Xin;
Zhang, Victor Wei;
Liao, Can;
Li, Dong‐Zhi;
Yang, Yan-Dong;
Liu, Wen-Jie;
Li, Dong-Zhi

Publication type:

journal article

Mutation Update for UBE3 A Variants in Angelman Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1407, doi. 10.1002/humu.22687

By:

Sadikovic, Bekim;
Fernandes, Priscilla;
Zhang, Victor Wei;
Ward, Patricia A.;
Miloslavskaya, Irene;
Rhead, William;
Rosenbaum, Richard;
Gin, Robert;
Roa, Benjamin;
Fang, Ping

Publication type:

Article

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307

By:

Tang, Sha;
Wang, Jing;
Zhang, Victor Wei;
Li, Fang‐Yuan;
Landsverk, Megan;
Cui, Hong;
Truong, Cavatina K.;
Wang, Guoli;
Chen, Li Chieh;
Graham, Brett;
Scaglia, Fernando;
Schmitt, Eric S.;
Craigen, William J.;
Wong, Lee‐Jun C.

Publication type:

Article

Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.

Published in:

Genes, 2020, v. 11, n. 12, p. 1397, doi. 10.3390/genes11121397

By:

Qi, Qingwei;
Jiang, Yulin;
Zhou, Xiya;
Meng, Hua;
Hao, Na;
Chang, Jiazhen;
Bai, Junjie;
Wang, Chunli;
Wang, Mingming;
Guo, Jiangshan;
Ouyang, Yunshu;
Xu, Zhonghui;
Xiao, Mengsu;
Zhang, Victor Wei;
Liu, Juntao

Publication type:

Article

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Published in:

2018

By:

Wang, Liang;
Zhang, Victor Wei;
Li, Shaoyuan;
Li, Huan;
Sun, Yiming;
Li, Jing;
Zhu, Yuling;
He, Ruojie;
Lin, Jinfu;
Zhang, Cheng

Publication type:

journal article

Clinical predictors of pulmonary embolism for inpatients: are computed tomography pulmonary angiograms being requested appropriately?

Published in:

Internal Medicine Journal, 2023, v. 53, n. 7, p. 1224, doi. 10.1111/imj.15696

By:

Ling, Lisa Luo‐Lan;
Zhang, Victor Jia Wei;
Lim, Hui Yin;
Lim, Ming Joe;
Ho, Prahlad

Publication type:

Article

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/745043

By:

Yu, Hui;
Zhang, Victor Wei

Publication type:

Article

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1371282

By:

Fengji Cui;
Tuoya Wulan;
Qian Zhang;
Victor Wei Zhang;
Yuhua Jiang

Publication type:

Article

Prevalence estimation of ATTRv in China based on genetic databases.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1126836

By:

Zheng Yongsheng;
Sun Chong;
Liu Bingyou;
Hu Jianian;
Chen Haofeng;
Zhao Chongbo;
Wei Zhang, Victor;
Lin Jie

Publication type:

Article

Prevalence estimation of ATTRv in China based on genetic databases.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1126836

By:

Zheng Yongsheng;
Sun Chong;
Liu Bingyou;
Hu Jianian;
Chen Haofeng;
Zhao Chongbo;
Victor Wei Zhang;
Lin Jie

Publication type:

Article

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00319

By:

You, Chunlin;
Zeng, Weike;
Deng, Lingna;
Lei, Zhihao;
Gao, Xinyi;
Zhang, Victor Wei;
Wang, Yidong

Publication type:

Article

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

Published in:

International Journal of Neuroscience, 2015, v. 125, n. 1, p. 43, doi. 10.3109/00207454.2014.904858

By:

Shaibani, Aziz;
Wong, Lee-Jun;
Wei Zhang, Victor;
Lewis, Richard Alan;
Shinawi, Marwan

Publication type:

Article

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1642, doi. 10.1002/ajmg.a.36508

By:

Barboza‐Cerda, María C.;
Wong, Lee‐Jun;
Martínez‐de‐Villarreal, Laura E.;
Zhang, Victor Wei;
Déctor, Miguel A.

Publication type:

Article

Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.943058

By:

Keya Tong;
Wenbin He;
Yao He;
Xiurong Li;
Liang Hu;
Hao Hu;
Guangxiu Lu;
Ge Lin;
Chang Dong;
Wei Zhang, Victor;
Juan Du;
Dongyun Liu

Publication type:

Article

Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.943058

By:

Keya Tong;
Wenbin He;
Yao He;
Xiurong Li;
Liang Hu;
Hao Hu;
Guangxiu Lu;
Ge Lin;
Chang Dong;
Wei Zhang, Victor;
Juan Du;
Dongyun Liu

Publication type:

Article

Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.852429

By:

Xiangtao Wu;
Liang Chen;
Weihong Lu;
Shaoru He;
Xiaowen Li;
Lingling Sun;
Longjiang Zhang;
Dejuan Wang;
Ruigui Zhang;
Yumei Liu;
Yunxia Sun;
Zhichun Feng;
Wei Zhang, Victor

Publication type:

Article

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.875015

By:

Chen, Fang;
Xie, Zhiwei;
Zhang, Victor Wei;
Chen, Chen;
Fan, Huifeng;
Zhang, Dongwei;
Jiang, Wenhui;
Wang, Chunli;
Wu, Peiqiong

Publication type:

Article

Case Report: Be Aware of "New" Features of Niemann–Pick Disease: Insights From Two Pediatric Cases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.845246

By:

Chen, Fan;
Guo, Shan;
Li, Xuesong;
Liu, Shengxuan;
Wang, Li;
Zhang, Victor Wei;
Xu, Hui;
Huang, Zhihua;
Ying, Yanqin;
Shu, Sainan

Publication type:

Article

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2328

By:

Zhao, Yang;
Hou, Yue;
Zhao, Xutong;
Liufu, Tongling;
Yu, Meng;
Zhang, Wei;
Xie, Zhiying;
Zhang, Victor Wei;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2188

By:

Tang, Shuo;
You, Jieyu;
Liu, Li;
Ouyang, Hongjuan;
Jiang, Na;
Duan, Jiaqi;
Li, Canlin;
Luo, Yanhong;
Zhang, Wenting;
Zhan, Meizheng;
Liu, Chenxi;
Lyu, Gui‐Zhen;
Zhang, Victor Wei;
Zhao, Hongmei

Publication type:

Article

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1825

By:

Zhao, Jianbo;
Lyu, Guizhen;
Ding, Changhong;
Wang, Xiaohui;
Li, Jiuwei;
Zhang, Weihua;
Yang, Xinying;
Zhang, Victor Wei

Publication type:

Article

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79331-w

By:

Gong, Kunjing;
Xia, Min;
Wang, Yaqin;
Wang, Na;
Liu, Ying;
Zhang, Victor Wei;
Cheng, Hong;
Chen, Yuqing

Publication type:

Article

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.765503

By:

Yuan, Dejian;
Yan, Tizhen;
Luo, Shiqiang;
Huang, Jun;
Tan, Jianqiang;
Zhang, Jianping;
Zhang, Victor Wei;
Lan, Yueyuan;
Hu, Taobo;
Guo, Jing;
Huang, Mingwei;
Zeng, Dingyuan

Publication type:

Article

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.725259

By:

Ouyang, Xuejun;
Zhang, Yu;
Zhang, Lijuan;
Luo, Jixuan;
Zhang, Ting;
Hu, Hui;
Liu, Lin;
Zhong, Lieqiang;
Zeng, Shaoying;
Xu, Pingyi;
Bai, Zhenjiang;
Wong, Lee-Jun;
Wang, Jing;
Wang, Chunli;
Wang, Bin;
Zhang, Victor Wei

Publication type:

Article

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.611226

By:

Yan, Hui-ming;
Liu, Zhi-mei;
Cao, Bei;
Zhang, Victor Wei;
He, Yi-duo;
Jia, Zheng-jun;
Xi, Hui;
Liu, Jing;
Fang, Fang;
Wang, Hua

Publication type:

Article

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Published in:

Molecular Neurobiology, 2025, v. 62, n. 6, p. 6764, doi. 10.1007/s12035-024-04472-2

By:

Yang, Haiyan;
Zhang, Victor Wei;
Ai, Liang;
Wu, Liwen

Publication type:

Article

The Study of Genetic Susceptibility and Mitochondrial Dysfunction in Mesial Temporal Lobe Epilepsy.

Published in:

Molecular Neurobiology, 2020, v. 57, n. 9, p. 3920, doi. 10.1007/s12035-020-01993-4

By:

Yang, Haiyan;
Yin, Fei;
Gan, Siyi;
Pan, Zou;
Xiao, Ting;
Kessi, Miriam;
Yang, Zhuangyi;
Zhang, Victor Wei;
Wu, Liwen

Publication type:

Article

Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 7, p. 386, doi. 10.1159/000528604

By:

Chen, Juan;
Lyu, Gui-Zhen;
Jiang, Fan;
Zhang, Victor Wei;
Li, Dong-Zhi

Publication type:

Article

Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA<sup> Gly </sup> (MT-TG) Variant.

Published in:

2022

By:

Yang, Haiyan;
Zhang, Victor Wei;
Ai, Liang;
Gan, Siyi;
Wu, Liwen

Publication type:

Case Study

Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

2025

By:

Ouyang, Xuejun;
Chi, Dazhi;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Correction Notice

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

2025

By:

Ouyang, Xuejun;
Chi, Dazhi;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Correction Notice

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1526077

By:

Ouyang, Xuejun;
Chi, Dazhi;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Article

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

2025

By:

Ouyang, Xuejun;
Chi, Dazhi;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Correction Notice

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1526077

By:

Ouyang, Xuejun;
Chi, Dazhi;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Article

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1526077

By:

Ouyang, Xuejun;
Zhang, Yu;
Yu, Tian;
Zhang, Qian;
Xu, Lei;
Zhang, Victor Wei;
Wang, Bin

Publication type:

Article

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1496411

By:

Zou, Huafang;
Zhang, Qian;
Liao, Jianxiang;
Zou, Dongfang;
Hu, Zhanqi;
Li, Bing;
Chen, Li;
Wen, Jialun;
Zhao, Xia;
Zhang, Victor Wei;
Cao, Dezhi

Publication type:

Article

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Published in:

2024

By:

Jiang, Yan;
Xiao, Yang Xue;
Xiong, Jiao Jiao;
Zhang, Victor Wei;
Dong, Chang;
Xu, Lei;
Liu, Fang

Publication type:

Case Study

Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia‐induced bronchopulmonary dysplasia in rats.

Published in:

Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 17, p. 8558, doi. 10.1111/jcmm.16817

By:

Xie, Yingjun;
Chen, Fei;
Jia, Lei;
Chen, Rui;
Zhang, Victor Wei;
Zhong, Xinqi;
Wang, Ding

Publication type:

Article

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -<sup>SEA</sup> Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Published in:

Hemoglobin, 2018, v. 42, n. 4, p. 278, doi. 10.1080/03630269.2018.1536665

By:

Li, Qiang;
Li, Yihong;
Zhong, Mei;
Zhang, Victor Wei;
Jin, Wangjie;
Li, Shaoyuan;
Li, Liyan

Publication type:

Article

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31134-5

By:

Wu, Teng-Hui;
Peng, Jing;
Yang, Li;
Chen, Yan-Hui;
Lu, Xiu-Lan;
Huang, Jiao-Tian;
You, Jie-Yu;
Ou-Yang, Wen-Xian;
Sun, Yue-Yu;
Xue, Yi-Nan;
Mao, Xiao;
Yan, Hui-Ming;
Ren, Rong-Na;
Xie, Jing;
Chen, Zhi-Heng;
Zhang, Victor-Wei;
Lyu, Gui-Zhen;
He, Fang

Publication type:

Article

Identification of thalassemia gene cluster deletion by long‐read whole‐genome sequencing (LR‐WGS).

Published in:

International Journal of Laboratory Hematology, 2021, v. 43, n. 4, p. 859, doi. 10.1111/ijlh.13452

By:

Jiang, Fan;
Lyu, Gui‐Zhen;
Zhang, Victor Wei;
Li, Dong‐Zhi

Publication type:

Article

Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.

Published in:

Reproductive Sciences, 2023, v. 30, n. 4, p. 1376, doi. 10.1007/s43032-022-01079-7

By:

Yu, Wenzhu;
Zhang, Shaodi;
Yin, Baoli;
Dong, Chang;
Zhang, Victor Wei;
Zhang, Cuilian

Publication type:

Article

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.

Published in:

2019

By:

Zhang, Yan;
Zhang, Yi;
Zhang, Victor Wei;
Zhang, Chunyi;
Ding, Hongke;
Yin, Aihua

Publication type:

journal article