Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit-Reference-Cited by-同舟云学术

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit

Published:2021-08-15 Issue:11 Volume:42 Page:1443-1460
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Liu Juan¹,Zheng Yu²³^ORCID,Huang Jiaotian¹,Zhu Desheng¹,Zang Ping¹,Luo Zhenqing²,Yang Yongjia²^ORCID,Peng Yu²,Xiao Zhenghui¹,Zhu Yimin⁴,Lu Xiulan¹^ORCID

Affiliation:

1. Pediatric Intensive Care Unit, Hunan Childrens Hospital University of South China Changsha Hunan China

2. Pediatrics Research Institute of Hunan Province Hunan Children's Hospital Changsha Hunan China

3. Center for Medical Genetics, School of Life Sciences Central South University Changsha Hunan China

4. Emergency Medicine Institute of Hunan Province Changsha Hunan China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24266

Reference77 articles.

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2. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

3. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

4. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

5. ClinGen.https://clinicalgenome.org/

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