Publications — Radcliffe Department of Medicine

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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Harteveld CL. et al, (2024), Int J Mol Sci, 25

The characteristics of CTCF binding sequences contribute to enhancer blocking activity.

Tsang FH. et al, (2024), Nucleic Acids Res

Developing a pill to treat sickle cell disease.

Higgs D. and Kassouf M., (2024), Science, 385, 27 - 28

Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomes.

Xiang G. et al, (2024), Genome Res

Beginnings: The molecular pathology of hemoglobin

Higgs D. and Badat M., (2024), Molecular Hematology, 1 - 16

Haemoglobin Bart's Hydrops Fetalis: Charting the Past and Envisioning the Future.

Amid A. et al, (2024), Blood

Super-enhancers include classical enhancers and facilitators to fully activate gene expression.

Blayney JW. et al, (2023), Cell, 186, 5826 - 5839.e18

Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomes.

Xiang G. et al, (2023), bioRxiv

Understanding fundamental principles of enhancer biology at a model locus: Analysing the structure and function of an enhancer cluster at the α-globin locus.

Kassouf M. et al, (2023), Bioessays, 45

Ancient genomic linkage couples metabolism with erythroid development.

Preston AE. et al, (2023), bioRxiv

Loop extrusion by cohesin plays a key role in enhancer-activated gene expression during differentiation

Stolper RJ. et al, (2023)

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell DJ. et al, (2023), Dev Cell

Direct correction of haemoglobin E β-thalassaemia using base editors.

Badat M. et al, (2023), Nat Commun, 14

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell DJ. et al, (2023), medRxiv

Active regulatory elements recruit cohesin to establish cell-specific chromatin domains

Georgiades E. et al, (2023)

The characteristics of CTCF binding sequences contribute to enhancer blocking activity

Tsang F. et al, (2023)

On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation.

Jeziorska DM. et al, (2022), Nat Commun, 13

Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.

Scott C. et al, (2022), Br J Haematol, 198, e10 - e14

Super-enhancers require a combination of classical enhancers and novel facilitator elements to drive high levels of gene expression

Blayney J. et al, (2022)

The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.

Truch J. et al, (2022), Nat Commun, 13

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