Miho Ishida

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

The paper analyzes the transcriptomic differences in 45,X tissues compared to 46,XX and 46,XY controls during early human fetal and placental development, identifying gene expression changes associated with Turner syndrome.

Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo

The paper identifies hypervariable DNA methylation sites across multiple tissues and ethnicities, showing they are influenced by environmental factors and established early in human development.

Diverse Species-Specific Phenotypic Consequences of Loss of Function Sorting Nexin 14 Mutations

This study examines the phenotypic effects of SNX14 loss-of-function mutations in mice and zebrafish, revealing species-specific consequences despite conserved biochemical roles.