Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.
Nandana J et al.
Cerebellum (london, England), 2025
A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Bannister M et al.
Biorxiv : the Preprint Server for Biology, 2024
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
Lindskov FO et al.
Cerebellum (london, England), 2024
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report.
Ma J et al.
Frontiers in Genetics, 2021
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
Aryan H et al.
Bmc Neurology, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
Hanzlikova H et al.
Nature Communications, 2020
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Ghosh SG et al.
American Journal of Human Genetics, 2018
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