Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients

2019 ◽  
Vol 40 (5) ◽  
pp. 950-957
Author(s):  
Genyin Dai ◽  
Zhening Pu ◽  
Xueying Cheng ◽  
Jie Yin ◽  
Jun Chen ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patients ◽  
Whole Exome

scholarly journals Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy

Medicine ◽  
2017 ◽  
Vol 96 (33) ◽  
pp. e7727 ◽  
Author(s):  
Hai-Xin Yuan ◽  
Kai Yan ◽  
Dong-Yan Hou ◽  
Zhi-Yong Zhang ◽  
Hua Wang ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson’s disease by whole-exome sequencing

2020 ◽  
Vol 733 ◽  
pp. 135075 ◽  
Author(s):  
Hui Chen ◽  
Yu-Hua Jin ◽  
Yan-Yan Xue ◽  
Yu-Lan Chen ◽  
Yi-Jun Chen ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patients ◽  
Whole Exome

A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy

2018 ◽  
Vol 83 (2) ◽  
pp. 95-99 ◽  
Author(s):  
Shu‐Bing Zhang ◽  
Yu‐Xing Liu ◽  
Liang‐Liang Fan ◽  
Hao Huang ◽  
Jing‐Jing Li ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Family ◽  
Whole Exome ◽  
Heterozygous Variant

scholarly journals Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy

2013 ◽  
Vol 6 (4) ◽  
pp. 317-326 ◽  
Author(s):  
Quinn S. Wells ◽  
Jason R. Becker ◽  
Yan R. Su ◽  
Jonathan D. Mosley ◽  
Peter Weeke ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Large Pedigree ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome

Novel Mutations in Familial Dilated Cardiomyopathy Identified by Whole Exome Sequencing

2013 ◽  
Vol 29 (10) ◽  
pp. S364
Author(s):  
R. Tadros ◽  
N. Chami ◽  
M. Beaudoin ◽  
K. Lo ◽  
L. Robb ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutations ◽  
Familial Dilated Cardiomyopathy ◽  
Whole Exome
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