Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Top stories on calcium release deficiency syndrome.
Sanatani S et al.
Heart Rhythm, 2024
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
Current management of inherited arrhythmia syndromes associated with the cardiac ryanodine receptor.
Przybylski R et al.
Current Opinion in Cardiology, 2023
How does flecainide impact RyR2 channel function?
Salvage SC et al.
The Journal of General Physiology, 2022
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Ormerod JOM et al.
Circulation. Genomic and Precision Medicine, 2022
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