Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
The molecular transition that confers voltage dependence to muscle contraction.
Angelini M et al.
Nature Communications, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.
Piriyapongsa J et al.
Scientific Reports, 2024
Somatic mutations in tumor-infiltrating lymphocytes impact on antitumor immunity.
Mukohara F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 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
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.
Li B et al.
American Journal of Human Genetics, 2023
Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance.
Feng W et al.
The Journal of Biological Chemistry, 2023
A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.
Murayama T et al.
The Journal of General Physiology, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
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
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
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
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Voltage sensing mechanism in skeletal muscle excitation-contraction coupling: coming of age or midlife crisis?
Hernández-Ochoa EO et al.
Skeletal Muscle, 2018
A skeletal muscle L-type Ca2+ channel with a mutation in the selectivity filter (CaV1.1 E1014K) conducts K<sup/>.
Beqollari D et al.
The Journal of Biological Chemistry, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S et al.
Neuromuscular Disorders : Nmd, 2017
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Treves S et al.
Seminars in Cell & Developmental Biology, 2017
How and why are calcium currents curtailed in the skeletal muscle voltage-gated calcium channels?
Flucher BE et al.
The Journal of Physiology, 2017
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Impaired gating of an L-Type Ca(2+) channel carrying a mutation linked to malignant hyperthermia.
Bannister RA et al.
Biophysical Journal, 2013
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.
Li FF et al.
Journal of Molecular Neuroscience : Mn, 2012
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I et al.
Biochimie, 2011
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.
Pirone A et al.
American Journal of Physiology. Cell Physiology, 2010
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D et al.
Bmc Medical Genetics, 2009
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0