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

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Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge by Qi Huang, Cheng Jiang, Jiazhong Sun, Junli Xue, Victor Wei Zhang

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Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review by Fengji Cui, Tuoya Wulan, Qian Zhang, Victor Wei Zhang, Yuhua Jiang

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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

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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

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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

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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

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Prevalence estimation of ATTRv in China based on genetic databases by Zheng Yongsheng, Sun Chong, Liu Bingyou, Hu Jianian, Chen Haofeng, Zhao Chongbo, Victor Wei Zhang, Lin Jie

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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review by Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu

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Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients by Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang

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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

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Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases by Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu

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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

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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

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Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient by Shuo Tang, Jieyu You, Li Liu, Hongjuan Ouyang, Na Jiang, Jiaqi Duan, Canlin Li, Yanhong Luo, Wenting Zhang, Meizheng Zhan, Chenxi Liu, Gui‐Zhen Lyu, Victor Wei Zhang, Hongmei Zhao

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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

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Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome by Xiangtao Wu, Xiangtao Wu, Xiangtao Wu, Liang Chen, Weihong Lu, Shaoru He, Shaoru He, Xiaowen Li, Lingling Sun, Longjiang Zhang, Dejuan Wang, Ruigui Zhang, Yumei Liu, Yunxia Sun, Zhichun Feng, Victor Wei Zhang

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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis by Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He

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Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China by Keya Tong, Keya Tong, Wenbin He, Wenbin He, Wenbin He, Yao He, Yao He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Guangxiu Lu, Guangxiu Lu, Ge Lin, Ge Lin, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Juan Du, Juan Du, Dongyun Liu, Dongyun Liu, Dongyun Liu

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