Kenneth M. Kaufman

This study identifies HIF-2 as a critical factor for the survival of cytokine-activated human NK cells, showing it is induced by IL-2/IL-15 and not hypoxia, and its inhibition reduces NK cell viability.

This study shows that EBNA2 activity is increased in MS patients, altering gene expression and chromatin accessibility in EBV-transformed B cells.

The paper presents a genetic resource of 15,684 individuals of African ancestry, demonstrating its utility in replicating and discovering disease associations.

This study shows HCMV infection disrupts chromatin organization and reduces TEAD1 activity through multiple mechanisms, linking it to genetic risk loci for eye and ear development.

This study identifies epigenetic and transcriptional dysregulation in CD4+ T cells of atopic dermatitis patients, linking genetic risk variants to altered chromatin accessibility and NFKB1 binding.

The paper identifies a dysfunctional enhancer linked to IRF8 expression through CRISPRa screening and shows its regulation by a lncRNA and DNA methylation.

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.