Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family-Reference-Cited by-同舟云学术

Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family

Published:2018-12 Issue:12 Volume:4 Page:e01015
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Dong Jingyun,Williams Nori,Cerrone Marina,Borck Christopher,Wang Dawei,Zhou Bo,Eng Lucy S.,Subbotina Ekaterina,Um Sung Yon,Lin Ying,Ruiter Kevin,Rojas Lisa,Coetzee William A.,Sampson Barbara A.,Tang Yingying

Funder

National Institute of Justice

NIH

Seventh District Masonic Foundation

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference33 articles.

1. Infant sudden death: mutations responsible for impaired Nav1.5 channel trafficking and function;Gando;Pacing Clin. Electrophysiol.,2017

2. A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L;Chen;Pacing Clin. Electrophysiol.,2011

3. Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype;Krishnan;Pacing Clin. Electrophysiol.,2012

4. Holistic approach to determine cause of autopsy-negative sudden natural death;Sampson;J. Am. Coll. Cardiol.,2017

5. Applying high-resolution variant classification to cardiac arrhythmogenic gene testing in a demographically diverse cohort of sudden unexplained deaths;Lin;Circ. Cardiovasc. Genet.,2017

Cited by 4 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. Cardiovascular pathology: guide to practice and training;Cardiovascular Pathology;2022

2. Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance;Journal of Congenital Cardiology;2020-11-05

3. Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?;Legal Medicine;2020-07

4. Functional characterization of ABCC9 variants identified in sudden unexpected natural death;Forensic Science International;2019-05