Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.
Grech L et al.
Molecular Genetics & Genomic Medicine, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD et al.
Anesthesiology, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
A population study of clinically actionable genetic variation affecting drug response from the Middle East.
Jithesh PV et al.
Npj Genomic Medicine, 2022
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
Noorian S et al.
Journal of Pediatric Genetics, 2021
Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene.
Wang JW et al.
Legal Medicine (tokyo, Japan), 2021
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.
Gonzalez A et al.
European Journal of Anaesthesiology, 2021
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
Myopathic Cardiac Genotypes Increase Risk for Myocarditis.
Kontorovich AR et al.
Jacc. Basic to Translational Science, 2021
Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report.
Tsutsumi YM et al.
Journal of Anesthesia, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A et al.
Acta Neuropathologica, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.
Hoppe K et al.
Scientific Reports, 2016
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2016
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S et al.
Human Mutation, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A et al.
Human Mutation, 2009
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
Gillies RL et al.
Anaesthesia and Intensive Care, 2008
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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