Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf
AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.
Huynh MT et al.
Genes, 2022
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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
Maltese PE et al.
International Heart Journal, 2017
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR et al.
Plos Genetics, 2016
27058611 (PubMed )
Supplement: pgen.1005963.s011.pdf
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Peeters U et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
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