Xuyun Hu
Capital Medical University
6 Papers
4 Citations
Xuyun Hu is an academic researcher from Capital Medical University. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 1, co-authored 6 publications.
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Papers
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Yingchao Liu,Yingchao Liu,Chanjuan Hao,Kechun Li,Kechun Li,Xuyun Hu,Heng-Miao Gao,Heng-Miao Gao,Jiansheng Zeng,Jiansheng Zeng,Ruolan Guo,Jun Liu,Jun Guo,Zheng Li,Zheng Li,Zhan Qi,Xin-Lei Jia,Xin-Lei Jia,Wei Li,Suyun Qian,Suyun Qian +20 more
TL;DR: Wang et al. as discussed by the authors investigated the spectrum of monogenic disorders, the diagnostic yield and clinical utility of WES from a PICU in a large children's hospital of China.
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.
TL;DR: The combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders and a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome is proposed.
Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.
Gang Liu,Haijuan Xiao,Linlin Liu,Lingyun Guo,Ruolan Guo,Xuyun Hu,Chanjuan Hao,Jingang Gui,Weiwei Jiao,Fang Xu,Adong Shen,Wei Li +11 more
1
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].
TL;DR: The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation, and a de novo variant was identified in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines.
1
Whole exome sequencing for non-selective pediatric patients with hyperlipidemia
Xuyun Hu,Lamei Chen,Chunxiu Gong,Jun Guo,Yuanying Chen,Quan Wang,Ruolan Guo,Wei Li,Chanjuan Hao,Chanjuan Hao +9 more
TL;DR: The study demonstrated the effectiveness of genome-first approach for evaluation pediatric hyperlipidemia patients and showed that WES can be used as the first-tier test for patients with suspected Mendelian hyperlipIDemia disorder.