Jun Guo
Capital Medical University
6 Papers
9 Citations
Jun Guo 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 2, co-authored 6 publications.
Chat about Author
Papers
Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency.
Chanjuan Hao,Jun Guo,Ruolan Guo,Zhan Qi,Wei Li,Ni Xin +5 more
- 01 Jun 2018
TL;DR: The severe form of PORD is difficult to differentiate with Antley‐Bixler syndrome (ABS), and the genetic characters and clinical evaluation of Pord are still unclear in China.
9
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.
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.
TL;DR: A patient with ANKS6 variants in the East-Asian population for the first time is identified and the usefulness of whole-exome sequencing for genetic diagnosis of kidney disease is emphasized.
4
[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