Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
40869992 (PubMed )
Supplement: genes-16-00944-s001.zip › genes-3772861-supplementary.xlsx › S1_RYR1_and_CACNA1S_variants
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
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
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_S2
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia.
Noda Y et al.
Journal of Anesthesia, 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
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Zullo A et al.
Biomed Research International, 2019
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
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