Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis

Using MR, we tested the causal relationship between l-glutamine levels and painful crises in SCD patients.

A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients.

We tested the association of a common *PIEZO1* variants with red blood cell density, hemolytic parameters, estimated glomerular filtration rate (eGFR), and SCD clinical complications.

Genome-wide association study of erythrocyte density in sickle cell disease patients.

We performed the first genome-wide association study for red cell density (DRBC) identify new genes involved in RBC hydration in SCD in 374 sickle cell anemia patients.

Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci.

Designing a variant-aware library we investigated the role DNA regulatory elements.