Baoping Xu
Capital Medical University
3 Papers
Baoping Xu is an academic researcher from Capital Medical University. The author has contributed to research in topics: Exome sequencing & Copy-number variation. The author has an hindex of 2, co-authored 3 publications.
Chat about Author
Papers
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.
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.
Jun Liu,Xuyun Hu,Xuyun Hu,Zhipeng Zhao,Ruolan Guo,Ruolan Guo,Jun Guo,Jun Guo,Wei Li,Wei Li,Chanjuan Hao,Chanjuan Hao,Baoping Xu +12 more
TL;DR: Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants, and the patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Yue Shen,Hao Wang,Zhimin Liu,Minna Luo,Siyu Ma,Chao Lu,Cao Zongfu,Yu Yufei,Cai Ruikun,Chen Cuixia,Li Qian,Gao Huafang,Yun Peng,Baoping Xu,Xu Ma +14 more
TL;DR: This study identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the P IBF1 pathogenic variant spectrum of Joubert Syndrome.