Daniel L. Kastner

This study identifies a bidirectional crosstalk between ALPK1 and STING that amplifies innate immune responses and contributes to inflammatory disease.

The paper identifies sex-chromosomal and autosomal gene responses to Xi and Y dosage in four human cell types, showing robustness in sex-chromosomal effects and cell-type-specific autosomal responses.

This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.