Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 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
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Ibarra Moreno CA et al.
Anesthesia and Analgesia, 2023
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR et al.
Journal of Neuromuscular Diseases, 2023
Perioperative management of malignant hyperthermia during general anesthesia: A report of two cases.
Chi X et al.
Clinical Case Reports, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Clinical Features of Suspected Malignant Hyperthermia in China from 2015 to 2020: A Retrospective Study from China Malignant Hyperthermia Emergency Assistance Group.
Tan L et al.
Journal of Multidisciplinary Healthcare, 2022
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR et al.
Brain Communications, 2022
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene.
Wang JW et al.
Legal Medicine (tokyo, Japan), 2021
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
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 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
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.
Graham B et al.
Frontiers in Genetics, 2020
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.
Ibarra Moreno CA et al.
Anesthesiology, 2019
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ et al.
Journal of Neurology, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Chen W et al.
The Biochemical Journal, 2017
Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.
Nicoll Baines K et al.
G3 (bethesda, Md.), 2017
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S et al.
Neuromuscular Disorders : Nmd, 2017
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
Murayama T et al.
Human Mutation, 2016
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.
Bamaga AK et al.
Neuromuscular Disorders : Nmd, 2016
[Telephone enquiries on the topic of malignant hyperthermia: Evaluation of the content and subsequent diagnostic results at the MH Center Leipzig].
Petersen B et al.
Der Anaesthesist, 2016
[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].
Wolak S et al.
Der Anaesthesist, 2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Special article: Future directions in malignant hyperthermia research and patient care.
Hirshey Dirksen SJ et al.
Anesthesia and Analgesia, 2011
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Carpenter D et al.
British Journal of Anaesthesia, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007