Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Author:
Funder
Rosetree Trust
NIHR Bioresource
NIHR Biomedical Research Centre
Publisher
Springer Science and Business Media LLC
Subject
Critical Care and Intensive Care Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00134-019-05552-x.pdf
Reference31 articles.
1. NHS Maternity Statistics, England 2016–17. https://digital.nhs.uk/data-and-information/publications/statistical/nhs-maternity-statistics/2016-17 . Accessed 1 Aug 2018
2. Neonatal Data Analysis Unit, Imperial College London. https://www.imperial.ac.uk/neonatal-data-analysis-unit . Accessed 1 Aug 2018
3. Meng L, Pammi M, Saronwala A et al (2017) Use of exome sequencing for infants in intensive care units. JAMA Pediatr 171:e173438. https://doi.org/10.1001/jamapediatrics.2017.3438
4. Thiffault I, Farrow E, Zellmer L et al (2018) Clinical genome sequencing in an unbiased pediatric cohort. Genet Med. https://doi.org/10.1038/s41436-018-0075-8
5. Tan TY, Dillon OJ, Stark Z et al (2017) Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr 171:855. https://doi.org/10.1001/jamapediatrics.2017.1755
Cited by 196 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Impact of prenatal genomics on clinical genetics practice;Best Practice & Research Clinical Obstetrics & Gynaecology;2024-12
2. Rapid Whole-Genome Sequencing in Acutely Ill Children: A Single Pediatric Center Experience;Journal of Pediatric Intensive Care;2024-09-11
3. Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing;World Journal of Pediatrics;2024-09-09
4. Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia;Pediatric Pulmonology;2024-08-08
5. Inborn errors of metabolism: Historical perspectives to contemporary management;Clinica Chimica Acta;2024-08
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3