Kyoko E. Yuki

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

The paper analyzes hypothalamic gene expression in mice across puberty, identifying age- and sex-specific changes and their association with pubertal regulation.

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

The paper investigates how mRNA half-life buffers transcription rate changes in Rett syndrome models, identifying post-transcriptional mechanisms in human and mouse neurons.

The paper measures transcription rate and mRNA half-life changes during human neuronal development and identifies transcriptional buffering as the most prevalent mode of gene regulation.

This study profiles gene and miRNA expression in mouse pituitaries across postnatal ages to identify sex-biased gene regulation and cell-type proportion differences during development.

The paper identifies TIA1 mRNA targets during human neuronal development and shows that TIA1 binding is associated with translation repression and neurodevelopmental gene regulation.