Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies-Reference-Cited by-同舟云学术

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies

Published:2022-04 Issue:7 Volume:188 Page:2048-2060
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Hieu Nguyen Le Trung¹²,Thu Nguyen Thuy Minh¹,Ngan Le Tran Anh¹,Van Le Thi Khanh¹,Huy Do Phuoc³,Linh Pham Thi Truc⁴,Mai Nguyen Thi Quynh⁵,Hien Huynh Thi Dieu⁵,Hang Do Thi Thu⁵^ORCID

Affiliation:

1. Neurology Department Children Hospital 2 Ho Chi Minh City Vietnam

2. University of Medicine and Pharmacy Ho Chi Minh City Vietnam

3. Medical Genetics Institute Ho Chi Minh City Vietnam

4. Functional Genomic Unit DNA Medical Technology Company Ho Chi Minh City Vietnam

5. Research Center for Genetics and Reproductive Health, School of Medicine Vietnam National University Ho Chi Minh City Vietnam

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62741

Reference46 articles.

1. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application

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3. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

4. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

5. Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

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