Associated Papers
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
40875405 (PubMed )
Supplement: hae-18-e013757-s002.xlsx › publications_used
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
Sumida T et al.
Human Genome Variation, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
37653714 (PubMed )
Supplement: kcj-53-693-s007.xls › kcj-53-693-s007
Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage.
Wang X et al.
Human Reproduction (oxford, England), 2023
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › list_of_307_variants_
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Paludan-Müller C et al.
Clinical Genetics, 2017
Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation.
Kron J et al.
International Journal of Cardiology, 2015
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
Akilzhanova A et al.
Plos One, 2014
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf
Catecholaminergic polymorphic ventricular tachycardia in a patient with recurrent exertional syncope.
Kim NY et al.
Korean Circulation Journal, 2012
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