Associated Papers
Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.
Rahimzadeh M et al.
Heart Failure Reviews, 2024
The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.
Yuan W et al.
European Journal of Pediatrics, 2024
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A et al.
Circulation. Genomic and Precision Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
Monogenic basis of young-onset cryptogenic stroke: a multicenter study.
Yuan WZ et al.
Annals of Translational Medicine, 2022
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus.
Peng Y et al.
Frontiers in Cardiovascular Medicine, 2022
A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?
Marinelli A et al.
Heartrhythm Case Reports, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.
Quan J et al.
Journal of Biomedical Science, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Wang Y et al.
Plos One, 2013
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
Wang H et al.
American Journal of Human Genetics, 2010