De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling
Liu, Xiaomin, Hu, Guorui, Ye, Jun, Ye, Bin, Shen, Nan, Tao, Yue, Zhang, Xia, Fan, Yanjie, Liu, Huili, Zhang, Zhigang, Fang, Danfeng, Gu, Xuefan, Mo, Xi, Yu, Yongguo
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools
Fan, Yanjie, Zhou, Ying, Liu, Huili, Luo, Xiaomei, Xu, Ting, Sun, Yu, Yang, Tingting, Chen, Linlin, Gu, Xuefan, Yu, Yongguo
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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Journal Article
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
Luo, Xiaomei, Wang, Ruifang, Sun, Yu, Qiu, Wenjuan, Lu, Deyun, Wang, Yu, Gong, Zhuwen, Zhang, Huiwen, Han, Lianshu, Liang, Lili, Gu, Xuefan, Yu, Yongguo, Xiao, Bing
Published in The Journal of molecular diagnostics : JMD (01.05.2023)
Published in The Journal of molecular diagnostics : JMD (01.05.2023)
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Journal Article
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency
Zhang, Yan, Qiu, Wenjuan, Zhang, Huiwen, Chen, Ting, Xu, Feng, Gu, Xuefan, Han, Lianshu
Published in Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban (25.04.2024)
Published in Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban (25.04.2024)
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Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
Yi, Mengni, Wang, Yu, Gao, Xiaolan, Han, Lianshu, Qiu, Wenjuan, Gu, Xuefan, Maegawa, Gustavo H. B., Zhang, Huiwen
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
Sun, Yu, Ye, Xiantao, Fan, Yanjie, Wang, Lili, Luo, Xiaomei, Liu, Huili, Gao, Xueren, Gong, Zhuwen, Wang, Yu, Qiu, Wenjuan, Zhang, Huiwen, Han, Lianshu, Liang, Lili, Ye, Hui, Xiao, Bing, Gu, Xuefan, Yu, Yongguo
Published in Clinical chemistry (Baltimore, Md.) (01.03.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2020)
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Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development
Fan, Yanjie, Zhang, Xia, Wang, Lili, Wang, Ruifang, Huang, Zhuo, Sun, Yu, Yao, Ruen, Huang, Xiaodong, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Yu, Yongguo
Published in Scientific reports (15.03.2017)
Published in Scientific reports (15.03.2017)
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Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
Liang, Lili, Ling, Shiying, Yu, Yue, Shuai, Ruixue, Qiu, Wenjuan, Zhang, Huiwen, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Gong, Zhuwen, Chen, Ting, Zhan, Xia, Gu, Xuefan, Han, Lianshu
Published in Journal of medical genetics (01.01.2024)
Published in Journal of medical genetics (01.01.2024)
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Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots
Dai, Weiqian, Yang, Tingting, Wang, Yu, Zhao, Qianfeng, Zhan, Yongkun, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Yu, Yongguo
Published in Clinical biochemistry (01.08.2021)
Published in Clinical biochemistry (01.08.2021)
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Journal Article
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome
Sun, Yu, Hu, Guorui, Liu, Huili, Zhang, Xia, Huang, Zhuo, Yan, Hui, Wang, Lili, Fan, Yanjie, Gu, Xuefan, Yu, Yongguo
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
Preparation and Application of New Polyhydroxy Ammonium Shale Hydration Inhibitor
Chang, Xiaofeng, Wang, Quande, Hu, Jiale, Sun, Yan, Chen, Shijun, Gu, Xuefan, Chen, Gang
Published in Processes (01.11.2023)
Published in Processes (01.11.2023)
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Journal Article
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
Wang, Ruifang, Shen, Nan, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Sun, Yu, Fan, Yanjie, Wang, Lili, Wang, Yu, Gong, Zhuwen, Liu, Huili, Wang, Jianguo, Yan, Hui, Blau, Nenad, Gu, Xuefan, Yu, Yongguo
Published in Clinica chimica acta (01.06.2018)
Published in Clinica chimica acta (01.06.2018)
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Journal Article
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
Zhang, Huiwen, Wang, Yu, Lin, Na, Yang, Rui, Qiu, Wenjuan, Han, Lianshu, Ye, Jun, Gu, Xuefan
Published in Orphanet journal of rare diseases (10.06.2014)
Published in Orphanet journal of rare diseases (10.06.2014)
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Research and Evaluation of Foam-Drainage Corrosion-Inhibition Hydrate Anti-Aggregation Integrated Agent
Ni, Weijun, Yang, Guohao, Dong, Jie, Pan, Yansong, Chen, Gang, Gu, Xuefan
Published in Processes (01.09.2023)
Published in Processes (01.09.2023)
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A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns
Luo, Xiaomei, Sun, Yu, Xu, Feng, Guo, Jun, Li, Lin, Lin, Zhiwei, Ye, Jun, Gu, Xuefan, Yu, Yongguo
Published in Annals of translational medicine (01.09.2020)
Published in Annals of translational medicine (01.09.2020)
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Journal Article
SIDT2 is involved in the NAADP-mediated release of calcium from insulin secretory granules
Chang, Guoying, Yang, Rui, Cao, Yanan, Nie, Aifang, Gu, Xuefan, Zhang, Huiwen
Published in Journal of molecular endocrinology (01.04.2016)
Published in Journal of molecular endocrinology (01.04.2016)
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