Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S13
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O et al.
Human Mutation, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.
Liu H et al.
Plos One, 2013
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
Takahata T et al.
Life Sciences, 2003
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
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