Associated Papers
Corrigendum to 'Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia' (Br J Anaesth 2026; 136: 323-32).
Schiemann AH et al.
British Journal of Anaesthesia, 2026
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2026
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.
Schiemann AH et al.
Journal of Neuromuscular Diseases, 2020
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ et al.
Journal of Neurology, 2019
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
Sato K et al.
Anesthesiology, 2013
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
Gillies RL et al.
Anaesthesia and Intensive Care, 2008
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
Tammaro A et al.
Clinical Chemistry, 2003
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
Novel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.
Perez Jimenez TE et al.
Veterinary Anaesthesia and Analgesia, 0