Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study
Zhuang, Jianlong, Zhang, Na, Wang, Yuanbai, Zhang, Hegan, Zheng, Yu, Jiang, Yuying, Xie, Yingjun, Chen, Dongmei
Published in Frontiers in genetics (30.09.2021)
Published in Frontiers in genetics (30.09.2021)
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A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
Zhuang, Jianlong, Xie, Meihua, Yao, Jianfeng, Fu, Wanyu, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Published in BMC medical genomics (09.01.2023)
Published in BMC medical genomics (09.01.2023)
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Journal Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
Zhuang, Jianlong, Chen, Chunnuan, Wang, Yuanbai, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong
Published in Frontiers in genetics (05.07.2022)
Published in Frontiers in genetics (05.07.2022)
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Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
Zhuang, Jianlong, Chen, Chunnuan, Jiang, Yuying, Luo, Qi, Zeng, Shuhong, Lv, Chunling, Wang, Yuanbai, Fu, Wanyu
Published in BMC pregnancy and childbirth (28.01.2021)
Published in BMC pregnancy and childbirth (28.01.2021)
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A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant
Zhuang, Jianlong, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Lin, Shuxia, Wang, Yuanbai, Jiang, Yuying
Published in Indian journal of hematology & blood transfusion (01.01.2023)
Published in Indian journal of hematology & blood transfusion (01.01.2023)
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Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Chen, Xinying, Xie, Yingjun, Wang, Gaoxiong
Published in Frontiers in genetics (25.03.2022)
Published in Frontiers in genetics (25.03.2022)
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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
Zhuang, Jianlong, Zhang, Na, Fu, Wanyu, Yao, Jianfeng, Li, Yanqing, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Jiang, Yuying
Published in Molecular cytogenetics (29.09.2021)
Published in Molecular cytogenetics (29.09.2021)
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Journal Article
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
Zhuang, Jianlong, Wang, Junyu, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Chen, Xinying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Published in Frontiers in genetics (26.08.2022)
Published in Frontiers in genetics (26.08.2022)
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Journal Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
Zhuang, Jianlong, Chen, Chunnuan, Huang, Rongfu, Luo, Qi, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun
Published in Molecular cytogenetics (07.06.2022)
Published in Molecular cytogenetics (07.06.2022)
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Journal Article
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review
Zhuang, Jianlong, Luo, Qi, Xie, Meihua, Chen, Yu’e, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Chen, Chunnuan
Published in Molecular genetics & genomic medicine (01.03.2023)
Published in Molecular genetics & genomic medicine (01.03.2023)
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Journal Article
Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing
Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Luo, Qi, Wang, Yuanbai, Jiang, Yuying, Zeng, Shuhong, Xie, Yingjun, Chen, Dongmei
Published in Frontiers in pediatrics (08.04.2022)
Published in Frontiers in pediatrics (08.04.2022)
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Journal Article
The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
Zhuang, Jianlong, Chen, Chunnuan, Li, Jia, Jiang, Yuying, Wang, Junyu, Wang, Yuanbai, Zeng, Shuhong, Lin, Yiming, Xie, Yingjun
Published in Frontiers in pediatrics (11.06.2021)
Published in Frontiers in pediatrics (11.06.2021)
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Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China
Shi, Lijing, Huang, Hui, Jiang, Qiuxia, Huang, Rongsen, Fu, Wanyu, Mao, Liangwei, Wei, Xiaoming, Cui, Huanhuan, Lin, Keke, Cai, Licheng, Yang, You, Wang, Yuanbai, Wu, Jing
Published in Frontiers in genetics (28.02.2020)
Published in Frontiers in genetics (28.02.2020)
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Journal Article
Molecular analysis of a large novel deletion causing α + -thalassemia
Zhuang, Jianlong, Tian, Jie, Wei, Jitao, Zheng, Yu, Zhuang, Qianmei, Wang, Yuanbai, Xie, Qingyue, Zeng, Shuhong, Wang, Geng, Pan, Yanchao, Jiang, Yuying
Published in BMC medical genetics (06.05.2019)
Published in BMC medical genetics (06.05.2019)
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Journal Article
Analysis a family with partial Xq deletion
Jiang, Yuying, Zhuang, Jianlong, Wang, Yuanbai, Zhuang, Qianmei, Zeng, Shuhong
Published in Zhonghua yi xue yi chuan xue za zhi (10.10.2017)
Published in Zhonghua yi xue yi chuan xue za zhi (10.10.2017)
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Journal Article
Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China
Zhuang, Jianlong, Jiang, Yuying, Wang, Yuanbai, Zheng, Yu, Zhuang, Qianmei, Wang, Junyu, Zeng, Shuhong
Published in Journal of clinical pathology (01.05.2020)
Published in Journal of clinical pathology (01.05.2020)
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Journal Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare a- and b-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
Zhuang, Jianlong, Chen, Chunnuan, Fu, Wanyu, Wang, Yuanbai, Zhuang, Qianmei, Lu, Yulin, Xie, Tiantian, Xu, Ruofan, Zeng, Shuhong, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong
Published in Archives of pathology & laboratory medicine (1976) (01.02.2023)
Published in Archives of pathology & laboratory medicine (1976) (01.02.2023)
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Journal Article
Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
Zhuang, Jianlong, Zheng, Yu, Wang, Yuanbai, Zhuang, Qianmei, Jiang, Yuying, Xie, Qingyue, Zeng, Shuhong, Zeng, Jianxing
Published in Journal of clinical pathology (01.09.2020)
Published in Journal of clinical pathology (01.09.2020)
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Journal Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
Zhuang, Jianlong, Chen, Chunnuan, Fu, Wanyu, Wang, Yuanbai, Zhuang, Qianmei, Lu, Yulin, Xie, Tiantian, Xu, Ruofan, Zeng, Shuhong, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong
Published in Archives of pathology & laboratory medicine (1976) (01.02.2023)
Published in Archives of pathology & laboratory medicine (1976) (01.02.2023)
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