Shiping Chen
Beijing Genomics Institute
10 Papers
16 Citations
Shiping Chen is an academic researcher from Beijing Genomics Institute. The author has contributed to research in topics: Thalassemia & Genetic testing. The author has an hindex of 3, co-authored 10 publications.
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Papers
Primer-introduced restriction analysis polymerase chain reaction method for non-invasive prenatal testing of β-thalassemia.
Saijun Liu,Liyuan Chen,Xiandong Zhang,Jian Li,Haiying Lin,Louhui Liu,Jiansheng Xie,Huijuan Ge,Minglan Ye,Caifen Chen,Xingwen Ji,Caifen Zhang,Fengping Xu,Hui Jiang,Hefu Zhen,Shiping Chen,Wei Wang +16 more
TL;DR: A new method for non-invasive prenatal testing (NIPT) of paternally inherited fetal mutants for β-thalassemia (β-thal) using specially designed primer-introduced restriction analysis-polymerase chain reaction (PIRA-PCR).
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Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
Qiong Su,Shiping Chen,Liu-Song Wu,Run-Mei Tian,Xiaoqin Yang,Xiaoyan Huang,Yan Chen,Zhiyu Peng,Jindong Chen +8 more
TL;DR: The identification of the novel β variant, Hb Zunyi, has been added to the human globin database and will shed light on future diagnosis of hemoglobinopathy/thalassemia and genetic counseling.
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Development of a genomic DNA reference material panel for thalassemia genetic testing.
Zhenzhen Yin,Shoufang Qu,Chuanfeng Huang,Fang Chen,Jianbiao Li,Shiping Chen,Jingyu Ye,Ying Yang,Yu Zheng,Xi Zhang,Xue-Xi Yang,Long-Xu Xie,Ji-Tao Wei,Feng-Xiang Wei,Jian Guo,Jie Huang +15 more
TL;DR: There are no publicly available RMs for thalassemia genetic testing as yet, and characterized genomic DNA reference materials (RMs) are necessary for assay development, validation, proficiency testing, and quality assurance.
Development of a Genomic DNA Reference Material Panel for Thalassemia Genetic Testing
Zhenzhen Yin,Shoufang Qu,Chuanfeng Huang,Fang Chen,Jianbiao Li,Shiping Chen,Yu Zheng,Xi Zhang,Xue-Xi Yang,Long-Xu Xie,Ji-Tao Wei,Feng-Xiang Wei,Jian Guo,Jie Huang +13 more
TL;DR: The first national panel of 31 genomic DNA reference materials which are renewable and publicly available for the quality assurance of various genetic testing methods and will facilitate research and development in thalassemia genetic testing are developed.
A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family
Zhenzhen Yin,Yuqi Hao,Xiaoyan Huang,Xiaohang Chen,Shiping Chen,Gaochi Li,Chuyan Chen,Fengxiang Wei +7 more
TL;DR: In this article, a novel mutation (HBA1: c.349G>T) in a newborn (proband) was first found by next-generation sequencing (NGS), and the results showed that both the proband and her mother were heterozygotes for this novel mutation and presented abnormal hematological indices.
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