Associated Papers
Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.
Leung HT et al.
Pediatric Cardiology, 2024
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
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Luo R et al.
Signal Transduction and Targeted Therapy, 2021
34465723 (PubMed )
Supplement: 41392_2021_748_MOESM1_ESM.docx
Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.
Lin Y et al.
Molecular Genetics & Genomic Medicine, 2021
Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.
Suktitipat B et al.
Plos One, 2017
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