Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study-Reference-Cited by-同舟云学术

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

Published:2021-05-16 Issue:7 Volume:42 Page:891-900
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hao Chanjuan¹²,Guo Ruolan¹²^ORCID,Liu Jun³,Hu Xuyun¹²,Guo Jun¹²^ORCID,Yao Yao³,Zhao Zhipeng³,Qi Zhan¹²,Yin Jun³,Chen Lanqin³,Wang Hao³,Xu Baoping³,Li Wei¹²

Affiliation:

1. Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital, National Center for Children's Health Capital Medical University Beijing China

2. Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital Zhengzhou Hospital of Beijing Children's Hospital Zhengzhou China

3. Respiratory Department of Beijing Children's Hospital, China National Clinical Research Center of Respiratory Diseases, National Center for Children's Health Capital Medical University Beijing China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24216

Reference34 articles.

1. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

2. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

3. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

4. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

5. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

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