Advances in the prenatal diagnosis of monogenic disorders
Author:
Affiliation:
1. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, North East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Foundation Trust; London UK
Funder
NIHR Biomedical Research Centre at Great Ormond Street Hospital
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.5208/fullpdf
Reference15 articles.
1. Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?;Westgren;Prenat Diagn,2015
2. Roadmap for an early gene therapy for cystic fibrosis airway disease;Carlon;Prenat Diagn,2017
3. Promises, pitfalls and practicalities of prenatal whole exome sequencing;Best;Prenat Diagn,2018
4. Prenatal DNA sequencing: clinical, counseling, and diagnostic laboratory considerations;Abou Tayoun;Prenat Diagn,2018
5. Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing;Horn;Prenat Diagn,2018
Cited by 10 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. Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing;New England Journal of Medicine;2023-11-23
2. Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?;Prenatal Diagnosis;2023-08-21
3. Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives;Critical Reviews in Clinical Laboratory Sciences;2023-01-16
4. Clinical experience with non‐invasive prenatal screening for single‐gene disorders;Ultrasound in Obstetrics & Gynecology;2022-01
5. Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review;Diagnostics;2021-02-02
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