Associated Papers
One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.
Parker LE et al.
Trends in Cardiovascular Medicine, 2023
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
35626289 (PubMed )
Supplement: diagnostics-12-01132-s001.zip › diagnostics-1699952-supplementary.pdf
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.
Tarnovskaya S et al.
Amino Acids, 2017
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.
Ramirez AH et al.
The Pharmacogenomics Journal, 2013
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