What's New

Last Posted: Oct 19, 2023

• Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosedthrough a population genomic screening program.
  Kristen D Yu et al. Anesthesiology 2023
• Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
  Luciano Frassanito et al. J Clin Med 2023 12(12)
• Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
  Thomas May et al. Family practice 2023
• Impact of a digital manual for guidance on malignant hyperthermia: patient education.
  Rodrigues Gislene et al. Orphanet journal of rare diseases 2022 17(1) 265
• Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing.
  van den Bersselaar Luuk R et al. Anesthesiology 2022
• Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  Haverfield Eden V et al. BMC medicine 2021 19(1) 199
• Secondary findings in 622 Turkish clinical exome sequencing data.
  Arslan Ates Esra et al. Journal of human genetics 2021
• Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
  Hoppe Kerstin et al. Scientific reports 2021 Feb 11(1) 3445
• Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.
  Hopkins P M et al. Anaesthesia 2021 Jan
• Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety.
  Baye Jordan F et al. Pharmacogenomics 2020 Oct
• Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.
  Yeh Huei-Ming et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2020 Sep
• Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records.
  Douville Nicholas J et al. British journal of anaesthesia 2020 Sep
• A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
  Ibarra Moreno Carlos A et al. British journal of anaesthesia 2020 Aug
• The current status of malignant hyperthermia.
  Yang Lukun et al. Journal of biomedical research 2019 May 34(2) 75-85
• [Malignant Hyperthermia - Diagnosis in Practice].
  Girard Thierry et al. Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS 2019 Sep 54(9) 538-548
• Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
  Mungunsukh Ognoon et al. British journal of anaesthesia 2019 Sep 123(3) e461-e463
• Pharmacogenomic considerations for medications in the perioperative setting.
  Jhun Ellie H et al. Pharmacogenomics 2019 Jul 20(11) 813-827
• Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes.
  Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov
• CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1
  ClinGen Actionability Working Group
• CLINGEN Actionability Report for Glycogen Storage Disease V - PYGM
  ClinGen Actionability Working Group
• CLINGEN Actionability Report for Malignant Hyperthermia Susceptibility - RYR1, CACNA1S
  ClinGen Actionability Working Group
• Routine DNA Screening Moves Into Primary Care
  M Andrews, NPR, May 22, 2018
• Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.
  Jain Abhinav et al. Molecular genetics and genomics : MGG 2018 Mar
• Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
  Levano Soledad et al. Neuromuscular disorders : NMD 2017 May 27(5) 492-499
• Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
  Riazi Sheila et al. Anesthesiology 2018 128(1) 168-180
• Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
  Crosslin David R et al. Genome Med 2015 7(1) 67
• Malignant hyperthermia
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia arthrogryposis torticollis
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 1
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 2
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 3
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 4
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 5
  From NCATS Genetic and Rare Diseases Information Center
• Malignant hyperthermia susceptibility type 6
  From NCATS Genetic and Rare Diseases Information Center