Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders-Reference-Cited by-同舟云学术

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Published:2018-12 Issue:12 Volume:20 Page:1564-1574
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Ewans Lisa J.,Schofield Deborah,Shrestha Rupendra,Zhu Ying,Gayevskiy Velimir,Ying Kevin,Walsh Corrina,Lee Eric,Kirk Edwin P,Colley Alison,Ellaway Carolyn,Turner Anne,Mowat David,Worgan Lisa,Freckmann Mary-Louise,Lipke Michelle,Sachdev Rani,Miller David,Field Michael,Dinger Marcel E.,Buckley Michael F.,Cowley Mark J,Roscioli Tony

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201839.pdf

Reference40 articles.

1. World Health Organization. Genes and human disease. http://www.who.int/genomics/public/geneticdiseases/en/index2.html. Accessed 22 March 2015.

2. Central Intelligence Agency. The World Factbook. 2016. https://www.cia.gov/library/publications/the-world-factbook/geos/xx.html; Accessed 22 March 2018.

Cited by 128 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. Epigenomic mechanisms and episignature biomarkers in rare diseases;Epigenetics in Human Disease;2024

2. Clinical Utility and Long-Term Feasibility of Exome and Genome Reanalysis: From the Perspectives of a Clinical Laboratory;The Journal of Applied Laboratory Medicine;2024-01

3. Exome and genome sequencing for diagnosing patients with suspected rare genetic disease;Journal of Genetic Medicine;2023-12-31

4. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses;Journal of Neurology;2023-12-21

5. Classic Light Transmission Platelet Aggregometry: Do We Still Need it?;Hämostaseologie;2023-12-08