Associated Papers
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Ying EZ et al.
Human Molecular Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.
Marczyk M et al.
Npj Breast Cancer, 2022
35869114 (PubMed )
Supplement: 41523_2022_449_MOESM2_ESM.xlsx › Table2-Mutation_Details
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
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
34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
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
33767344 (PubMed )
Supplement: NIHMS1689967-supplement-Large_Excel_File.xls › Table_S4
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM7_ESM.zip › Manuscript_Source_Data › Others › Supplemental_Table_Patients.xlsx › Patient_Database
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Isackson PJ et al.
Pharmacogenomics, 2018
Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test.
Roux-Buisson N et al.
British Journal of Anaesthesia, 2016
Select a paper to view details