Kathryn M. Stowell
Tennent Drive
Palmerston North, MWT 4410, New Zealand
Palmerston North, MWT 4410, New Zealand
Last Updated: 09/26/2026
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Found 35 publications
Corrigendum to 'European Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility' (Br J Anaesth 2026; 136: 653-661).
Journal: British journal of anaesthesia
Published: June 08, 2026
Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.
Journal: European journal of human genetics : EJHG
Published: June 03, 2026
Corrigendum to 'Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia' (Br J Anaesth 2026; 136: 323-32).
Journal: British journal of anaesthesia
Published: February 28, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.
Journal: European journal of human genetics : EJHG
Published: November 28, 2025
European Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility.
Journal: British journal of anaesthesia
Published: October 01, 2025
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
Journal: British journal of anaesthesia
Published: July 13, 2025
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Journal: Human molecular genetics
Published: March 05, 2025
Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
Journal: British journal of anaesthesia
Published: June 15, 2024
The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant.
Journal: Neuromuscular disorders : NMD
Published: September 17, 2023
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
Journal: British journal of anaesthesia
Published: May 09, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Journal: Human molecular genetics
Published: April 27, 2022
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia.
Journal: British journal of anaesthesia
Published: April 05, 2021
Last Updated: 09/26/2026