Isabella M. Salamone

A pleiotropic EPAS1 enhancer mediating Tibetan adaptation to hypoxia is active in adipocytes

The paper investigates the role of the EPAS1 enhancer ENH5 in adipocytes, showing its conditional effects on thermogenesis and adipocyte differentiation under hypoxia and thermogenic stimulation.

Shared loci but distinct variants underlie genetic architecture of allergic diseases

The paper identifies disease-specific risk variants and shared effector genes in allergic diseases using functional fine-mapping and expression quantitative trait loci.

Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations.

This study integrates functional genomics and statistical fine-mapping to identify causal variants, regulatory elements, and effector genes for adult-onset and childhood-onset asthma.

Trajectory analysis of cardiovascular phenotypes from biobank data uncovers novel genetic associations

The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.

CBX2 is required during male sex determination to repress female fate at bivalent loci

This study shows that CBX2 represses female fate by maintaining bivalent female-determining genes in male gonads, enabling Sry expression and testis development.