Gerard S. Conway

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.

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

This study uses single-nucleus and bulk RNA sequencing to identify novel pathogenic mechanisms of ovarian insufficiency in Turner Syndrome, beyond X chromosome haploinsufficiency.

This study maps the anatomical and transcriptional changes in human fetal ovaries during development using single-nuclei RNA sequencing and other techniques, identifying novel pathways and regulators.