Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference
Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.
Clemens DJ et al.
Stem Cell Reports, 2023
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A et al.
Circulation, 2020
Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.
Sarquella-Brugada G et al.
Frontiers in Pediatrics, 2020
Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.
Frontera A et al.
Journal of the American Heart Association, 2019
International Triadin Knockout Syndrome Registry.
Clemens DJ et al.
Circulation. Genomic and Precision Medicine, 2019
A unique triadin exon deletion causing a null phenotype.
O'Callaghan BM et al.
Heartrhythm Case Reports, 2018
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
Walsh MA et al.
Pacing and Clinical Electrophysiology : Pace, 2016
The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.
Lin DJ et al.
Tzu Chi Medical Journal, 0
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