Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Challenges in genetic counseling for RYR1-related myopathies.
Shimomura R et al.
Brain & Development, 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
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
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
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
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Jokela M et al.
Neurology, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M et al.
Acta Neuropathologica Communications, 2019
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Isackson PJ et al.
Pharmacogenomics, 2018
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.
Merritt A et al.
British Journal of Anaesthesia, 2017
[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
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.
Broman M et al.
Clinical Genetics, 2015
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie AB et al.
Acta Neuropathologica Communications, 2014
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.
Schiemann AH et al.
Anesthesia and Analgesia, 2014
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
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A et al.
Human Mutation, 2012
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D et al.
Bmc Medical Genetics, 2009
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Carpenter D et al.
British Journal of Anaesthesia, 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
Wehner M et al.
Neuromuscular Disorders : Nmd, 2004
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