Search results (74)
« Back to PublicationsUsing Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.
Journal article
Frey K. et al, (2026), J Clin Med, 15
ncient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis.
Journal article
Preston AE. et al, (2025), Nat Commun, 16
Correction: The α-globin super-enhancer acts in an orientation-dependent manner.
Journal article
Kassouf MT. et al, (2025), Nat Commun, 16
The α-globin super-enhancer acts in an orientation-dependent manner.
Journal article
Kassouf MT. et al, (2025), Nat Commun, 16
Hemoglobin Bart's hydrops fetalis: charting the past and envisioning the future.
Journal article
Amid A. et al, (2024), Blood, 144, 822 - 833
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Journal article
Harteveld CL. et al, (2024), Int J Mol Sci, 25
Super-enhancers include classical enhancers and facilitators to fully activate gene expression.
Journal article
Blayney JW. et al, (2023), Cell, 186, 5826 - 5839.e18
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Journal article
Martell DJ. et al, (2023), Dev Cell, 58, 2112 - 2127.e4
new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Journal article
Tillotson R. et al, (2023), Hum Mol Genet, 32, 2485 - 2501
new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects
Preprint
Tillotson R. et al, (2023)
On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation.
Journal article
Jeziorska DM. et al, (2022), Nat Commun, 13
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Journal article
Dixon PH. et al, (2022), Nat Commun, 13
