Gudrun E. Moore

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 analyzes genetic causes of syndromic and non-syndromic hearing loss in 5,488 individuals from the 100,000 Genomes Project, identifying 273 genes and a 27.5% diagnostic yield.

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.

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

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