1. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
    Elsayed Abdelkreem et al, 2019, Human Mutation CrossRef
  2. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
    Toshiyuki Fukao et al, 2019, Journal of Human Genetics CrossRef
  3. RNA splicing analysis in genomic medicine
    Htoo Wai et al, 2019, The International Journal of Biochemistry & Cell Biology CrossRef
  4. Splicing mutations in human genetic disorders: examples, detection, and confirmation
    Abramowicz Anna et al, 2018, Journal of Applied Genetics CrossRef
  5. Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
    Charlie F Rowlands et al, 2019, Cells CrossRef
  6. CRISPR/Cas9-generated mouse model with humanizing single-base substitution in the Gnao1 for safety studies of RNA therapeutics
    Anna V. Polikarpova et al, 2023, Frontiers in Genome Editing CrossRef