A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum

(2016) Ariana Kariminejad et al.   BMC MUSCULOSKELETAL DISORDERS

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

(2016) Jillian Casey et al.   PRENATAL DIAGNOSIS

Etiology of non-immune hydrops fetalis: An update

(2015) Carlo Bellini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

(2014) Sian Ellard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Architecture and conformational switch mechanism of the ryanodine receptor

(2014) Rouslan G. Efremov et al.   NATURE

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

(2014) Isabel Filges et al.   PRENATAL DIAGNOSIS

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

(2014) Arthur B McKie et al.   Acta Neuropathologica Communications

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

(2010) Aurelio Hernandez-Lain et al.   European Journal of Medical Genetics

Characterization of ryanodine receptors in rat colonic epithelium

(2008) G. Prinz et al.   Acta Physiologica