Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.
Yu Y et al.
Anesthesia and Analgesia, 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
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
Effects of Remimazolam on Intracellular Calcium Dynamics in Myotubes Derived from Patients with Malignant Hyperthermia and Functional Analysis of Type 1 Ryanodine Receptor Gene Variants.
Miyoshi H et al.
Genes, 2023
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
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
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Witting N et al.
Neurology. Genetics, 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
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
Miyoshi H et al.
Anesthesia and Analgesia, 2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M et al.
European Journal of Neurology, 2015
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
Migita T et al.
Journal of Anesthesia, 2009
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA et al.
Anesthesiology, 2006