Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.
Foo CTY et al.
Scientific Reports, 2022
Secondary findings in 622 Turkish clinical exome sequencing data.
Arslan Ateş E et al.
Journal of Human Genetics, 2021
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L et al.
Acta Neuropathologica Communications, 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
Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.
Schiemann AH et al.
Journal of Neuromuscular Diseases, 2020
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M et al.
Acta Neuropathologica Communications, 2019
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Congenital myopathy with focal loss of cross-striations revisited.
Voermans NC et al.
Neuromuscular Disorders : Nmd, 2013
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
Hwang JH et al.
Trends in Molecular Medicine, 2012
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N et al.
Human Mutation, 2008
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
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
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2004
Congenital myopathy with focal loss of cross striations: a case report with morphologic and immunohistochemical study.
Yun Y et al.
General & Diagnostic Pathology, 1995