Danielle H.J. Kim

Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD

The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.

Genetic survey of biomarkers across pregnancy identifies pregnancy-specialized immune regulation

The paper conducts a genetic analysis of immune biomarkers across pregnancy timepoints, identifying heritable and genome-wide significant associations and highlighting timepoint-specific and pregnancy-unique findings.

Simulated ischemia in live cerebral slices is mimicked by opening the Na+/K+ pump: clues to the generation of spreading depolarization.

The paper shows that palytoxin mimics ischemia-induced spreading depolarization in brain slices by activating the Na+/K+ pump, suggesting a potential therapeutic target for ischemic brain injury.