Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency-Reference-Cited by-同舟云学术

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

Published:2022-01 Issue:1 Volume:61 Page:153-156
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Tran Van Khanh,Diep Quang Minh,Qiu Zilong,Le Thi Phuong,Do Long Duy,Tran Hai Anh,Bui The-Hung,Ta Thanh Van,Tran Thinh Huy

Funder

Ministry of Science and Technology

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference14 articles.

1. An exome sequencing strategy to diagnose lethal autosomal recessive disorders;Ellard;Eur J Hum Genet,2015

2. Whole-exome sequencing and whole-genome sequencing in critically Ill neonates suspected to have single-gene disorders;Smith;Cold Spring Harb Perspect Med,2015

3. Newborn testing and screening by whole-genome sequencing;Kingsmore;Genet Med,2016

4. Advantages of expanded universal carrier screening: what is at stake?;van der;Eur J Hum Genet,2016

5. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions;Tan;JAMA Pediatr,2017

Cited by 2 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. Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report;Asian Biomedicine;2022-12-01

2. Organ- or function-preservation surgery is recommended, but who is a candidate?;Journal of the Chinese Medical Association;2022-11-28