Associated Papers
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
Sevinç S et al.
Molecular Syndromology, 2022
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G et al.
Epilepsia Open, 2022
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.
Singer ES et al.
Circulation. Genomic and Precision Medicine, 2019
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.
Zhang J et al.
Experimental and Therapeutic Medicine, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Nishri D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Lax NZ et al.
Journal of Neuropathology and Experimental Neurology, 2015
A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
Qian Y et al.
Molecular Medicine Reports, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Glamuzina E et al.
Journal of Inherited Metabolic Disease, 2012
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y et al.
Brain : a Journal of Neurology, 2011
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
Edvardson S et al.
American Journal of Human Genetics, 2007