Associated Papers
Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.
Yang ZF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Forstner AJ et al.
Translational Psychiatry, 2020
32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30531895 (PubMed )
Supplement: 41436_2018_375_MOESM1_ESM.xlsx › Table_S13
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Select a paper to view details