Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases

by Hui Yu, Victor Wei Zhang
Published 2015-01-01

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

by Chunlin You, Chunlin You, Weike Zeng, Lingna Deng, Zhihao Lei, Xinyi Gao, Victor Wei Zhang, Victor Wei Zhang, Yidong Wang, Yidong Wang, Yidong Wang
Published 2020-05-01

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

by Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin
Published 2019-10-01

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

by Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson
Published 2014-01-01

Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

by Benzhen Wang, Benzhen Wang, Zhanhui Du, Guangsong Shan, Chuanzhu Yan, Victor Wei Zhang, Zipu Li
Published 2021-06-01

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

by Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen
Published 2021-02-01

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

by Xuejun Ouyang, Yu Zhang, Lijuan Zhang, Jixuan Luo, Ting Zhang, Hui Hu, Lin Liu, Lieqiang Zhong, Shaoying Zeng, Pingyi Xu, Zhenjiang Bai, Lee-Jun Wong, Jing Wang, Jing Wang, Chunli Wang, Bin Wang, Victor Wei Zhang, Victor Wei Zhang
Published 2021-08-01

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

by Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie
Published 2018-10-01

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

by Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang
Published 2018-08-01

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

by Hui-ming Yan, Hui-ming Yan, Hui-ming Yan, Zhi-mei Liu, Bei Cao, Victor Wei Zhang, Victor Wei Zhang, Yi-duo He, Zheng-jun Jia, Zheng-jun Jia, Zheng-jun Jia, Hui Xi, Hui Xi, Hui Xi, Jing Liu, Jing Liu, Jing Liu, Fang Fang, Hua Wang, Hua Wang, Hua Wang
Published 2021-07-01

Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia

by Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu, Jun Jiang
Published 2018-10-01

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

by Qingwei Qi, Yulin Jiang, Xiya Zhou, Hua Meng, Na Hao, Jiazhen Chang, Junjie Bai, Chunli Wang, Mingming Wang, Jiangshan Guo, Yunshu Ouyang, Zhonghui Xu, Mengsu Xiao, Victor Wei Zhang, Juntao Liu
Published 2020-11-01