Noemi B. A. Roy

This study identifies Nprl3 as a key regulator of erythroid metabolism, showing its role in coupling metabolic and developmental processes during erythropoiesis.

This study shows that SUPT5H mutations disrupt RNA polymerase II pausing, delaying erythroid differentiation and cell cycle progression in human cells.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

This study models erythropoiesis in CDA-I by analyzing patient-derived erythroblasts, identifying abnormalities in DNA accessibility, proliferation, and enucleation, with genotype-phenotype correlations.