Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

Published:2024-09-09 Issue:1 Volume:24 Page:
ISSN:1471-2393
Container-title:BMC Pregnancy and Childbirth
language:en
Short-container-title:BMC Pregnancy Childbirth

Author:

Jin Pengzhen,Hong Jiawei,Xu Yuqing,Qian Yeqing,Han Shuning,Dong Minyue

Funder

Zhejiang Provincial Natural Science Foundation of China

the National Natural Science Foundation of China

the Key Projects Jointly Constructed by the Ministry and the Province of Zhejiang Medical and Health Science and Technology Project

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s12884-024-06782-8.pdf

Reference24 articles.

1. Chen X, Jiang Y, Chen R, Qi Q, Zhang X, Zhao S, Liu C, Wang W, Li Y, Sun G, et al. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies. J TRANSL MED. 2022;20(1):10.

2. Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, et al. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. GENET MED. 2019;21(5):1065–73.

3. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393(10173):747–57.

4. Fu F, Li R, Li Y, Nie ZQ, Lei T, Wang D, Yang X, Han J, Pan M, Zhen L, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol. 2018;51(4):493–502.

5. Banka S, Metcalfe K, Clayton-Smith J. Trisomy 18 mosaicism: report of two cases. WORLD J PEDIATR. 2013;9(2):179–81.

同舟云学术

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