Last Updated: 09/26/2026
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Found 145 publications
Functional and clinical characterisation of the variant RYR2-P2159S in unexplained cardiac arrest reveals a diagnosis of calcium release deficiency syndrome.
Journal: Heart rhythm
Published: July 26, 2026
Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.
Journal: JAMA cardiology
Published: May 27, 2026
Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.
Journal: Circulation. Genomic and precision medicine
Published: April 10, 2026
Accelerating ambient AI scribe enterprise-scale deployment: Cleveland Clinic's novel approach to health system-industry partnership.
Journal: npj health systems
Published: April 01, 2026
Unique repolarization response after spontaneous nonsustained ventricular tachycardia.
Journal: HeartRhythm case reports
Published: March 23, 2026
Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.
Journal: Journal of neurogenetics
Published: February 26, 2026
Multicenter validation of an artificial intelligence-enabled ECG model to predict 1-year risk of atrial fibrillation or flutter.
Journal: Heart rhythm
Published: January 22, 2026
Calcium release deficiency syndrome in unexplained sudden death: in vitro functional study of cardiac ryanodine receptor variants of uncertain significance.
Journal: European heart journal
Published: January 07, 2026
Potentiation of ryanodine receptor-mediated calcium release by MAPK is responsible for epidermal transformation and carcinogenesis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: December 10, 2025
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Journal: American journal of medical genetics. Part A
Published: July 29, 2025
A probabilistic approach for building disease phenotypes across electronic health records.
Journal: BioData mining
Published: February 13, 2025
Last Updated: 09/26/2026