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Muscle & Nerve|June 29, 2004
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermiaClare L Marchant, F Richard Ellis, P Jane Halsall, et al.BMC Medical Genetics|October 15, 2009
The role of CACNA1S in predisposition to malignant hyperthermiaDanielle Carpenter, Christopher Ringrose, Vincenzo Leo, et al.Human Mutation|July 19, 2002
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypesRachel L Robinson, Collin Brooks, Sarah L Brown, et al.Muscle & Nerve|August 1, 2009
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian familiesDanielle Carpenter, Azzam Ismail, Rachel L Robinson, et al.Molecular Diagnosis & Therapy|October 8, 2017
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence ReadsChristopher M Watson, Nick Camm, Laura A Crinnion, et al.European Journal of Human Genetics : EJHG|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disordersRachel L Robinson, Thatjana Gardeitchik, Meyke I Schouten, et al.Human Molecular Genetics|July 18, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibilityJennifer J Johnston, Robert T Dirksen, Thierry Girard, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.Pageof 1