5 Papers
11 Citations
Ni Xin is an academic researcher from Capital Medical University. The author has contributed to research in topics: Gene & Exome. The author has an hindex of 2, co-authored 5 publications.
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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.
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[Relationship between vocal fold leukoplakia and gastropharyngeal reflux:analysis of 15 cases].
Ni Xin,Xiaoling Wang,Yu-ya Zhang +2 more
TL;DR: The patients with vocal fold leukoplakia had more pathologic intra-esophageal reflux compared to the normal individuals, and reflux may be a risk factor of mucosa leucoplakia.
4
Patent
Method and device for detecting copy number variation based on exon capture technology
Wei Li,Ni Xin,Chanjuan Hao +2 more
- 03 Jan 2020
TL;DR: In this article, a method and a device for detecting copy number variation based on exon capture technology is presented, which comprises the following steps: S1, processing sequencing data of a control sample set; S2, processing data of the corresponding to-be-detected sample; and S3, comparing average sequencing depth of each capture area of the control sample with average sequencing depths of each cover area of a corresponding cover.
1
Biological implications of genetic variations in autism spectrum disorders from genomics studies.
TL;DR: In this paper, a review of the current evidence for the known molecular genetic basis and possible pathological mechanisms as well as the risk genes and loci of ASD is presented, and functional studies for the underlying mechanisms are also implicated.
Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China.
Chanjuan Hao,Ruolan Guo,Xuyun Hu,Zhan Qi,Qi Guo,Xuanshi Liu,Yuanhu Liu,Yanhua Sun,Xiaofen Zhang,Feng Jin,Xiujie Wu,Ren Cai,Dingyuan Zeng,Xijiang Hu,Xiaohua Wang,Xiaoping Ji,Wenjie Li,Quansheng Xing,Lanfang Mu,Xiulian Jiang,Xue Yang,Weimin Yang,Zhang Yan,Qianli Yin,Ni Xin,Wei Li +25 more
TL;DR: Wang et al. as mentioned in this paper developed a panel of 465 causative genes for 596 early-onset, relatively high incidence and potentially actionable severe inherited diseases in their Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies in eight Women and Children's hospitals nationwide in China retrospectively.