James Douglas Engel

The paper identifies a lipid metabolism defect as a contributor to variable anemia in Diamond Blackfan anemia syndrome using a murine model and transcriptomic analysis.

This paper describes a novel Rpl5 mutation in mice that models Diamond Blackfan Anemia with variable penetrance and anemia remission.

This study shows that Gata3 disruption in mouse embryos causes facial abnormalities due to impaired separation of mandibular and maxillary domains during development.

The paper investigates whether a super-enhancer and promoter pair can function in trans to activate gene expression, finding no evidence of transvection in vivo.

This study identifies GATA2's role in maintaining lymphatic endothelial cell junctions and valve morphogenesis through regulation of miR-126.

The paper identifies BAP1 as a key repressor of fetal hemoglobin biosynthesis by maintaining NCoR1 at the β-globin locus and shows its inhibition increases γ-globin synthesis.