Associated Papers
Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.
Chen H et al.
Science Translational Medicine, 2025
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
38685113 (PubMed )
Supplement: 40246_2024_604_MOESM1_ESM.xlsx › Table_S1
Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.
Chen H et al.
Biorxiv : the Preprint Server for Biology, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37577678 (PubMed )
Supplement: media-1.xlsx › Table_S1
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