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  • Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
  • A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons
  • Characterization of a strain-specific CD-1 reference genome reveals potential inter- and intra-strain functional variability
  • BEDwARS: a robust Bayesian approach to bulk gene expression deconvolution with noisy reference signatures
  • Intrathecal magnesium delivery for Mg plus plus -insensitive NMDA receptor activity due to GRIN1 mutation
  • Epigenetic associations with adolescent grey matter maturation and cognitive development
  • Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
  • Cumulative stress, PTSD, and emotion dysregulation during pregnancy and epigenetic age acceleration in Hispanic mothers and their newborn infants
  • Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
  • Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity