Mosaic mutations in early-onset genetic diseases-Reference-Cited by-同舟云学术

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Mosaic mutations in early-onset genetic diseases

Published:2016-07 Issue:7 Volume:18 Page:746-749
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Halvorsen Matt,Petrovski Slavé,Shellhaas Renée,Tang Yingying,Crandall Laura,Goldstein David,Devinsky Orrin

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2015155.pdf

Reference19 articles.

Cited by 57 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. Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling;2024-08-13

2. Brainstem depolarization–induced lethal apnea associated with gain-of-function SCN1A ^L263V is prevented by sodium channel blockade;Proceedings of the National Academy of Sciences;2024-03-28

3. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism;European Journal of Human Genetics;2024-03-25

4. Video Analyses of Sudden Unexplained Deaths in Toddlers;Neurology;2024-02-13

5. Seizures and Sudden Death Beyond SUDEP;Neurology;2024-02-13

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