Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Comprehensive pharmacogenomics profiling of the Serbian population.
Jelovac M et al.
Frontiers in Pharmacology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C et al.
Genes, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A et al.
Neurology. Genetics, 2019
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC et al.
American Journal of Human Genetics, 2018
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.
Vaqué JP et al.
Plos One, 2015
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.
Nichols AC et al.
Archives of Otolaryngology--head & Neck Surgery, 2012
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A et al.
Human Mutation, 2009
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA et al.
Anesthesiology, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0