Publications — Radcliffe Department of Medicine

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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

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

Scott C. et al, (2022), Br J Haematol

The eha research roadmap: normal hematopoiesis

Jaffredo T. et al, (2021), HemaSphere, 5

Publisher Correction: The relationship between genome structure and function.

Oudelaar AM. and Higgs DR., (2021), Nat Rev Genet

Testing the super-enhancer concept.

Blobel GA. et al, (2021), Nat Rev Genet

Reactivation of a developmentally silenced embryonic globin gene.

King AJ. et al, (2021), Nat Commun, 12

Defining genome architecture at base-pair resolution.

Hua P. et al, (2021), Nature, 595, 125 - 129

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker.

Bozhilov YK. et al, (2021), Nat Commun, 12

A remarkable case of HbH disease illustrates the relative contributions of the alpha-globin enhancers to gene expression (vol 137, pg 572, 2021)

Badat M. et al, (2021), BLOOD, 137, 2854 - 2854

The mouse alpha-globin cluster: a paradigm for studying genome regulation and organization.

Oudelaar AM. et al, (2021), Curr Opin Genet Dev, 67, 18 - 24

Enhancers predominantly regulate gene expression during differentiation via transcription initiation.

Larke MSC. et al, (2021), Mol Cell, 81, 983 - 997.e7

Author Correction: Enhancer-promoter interactions and transcription.

Higgs DR., (2021), Nat Genet

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression.

Badat M. et al, (2021), Blood, 137, 572 - 575

The relationship between genome structure and function.

Oudelaar AM. and Higgs DR., (2020), Nat Rev Genet

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.

Long HK. et al, (2020), Cell Stem Cell, 27, 765 - 783.e14

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.

Scott C. et al, (2020), Haematologica, Online ahead of print

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells.

Miyata M. et al, (2020), Blood, 136, 269 - 278

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Olijnik A-A. et al, (2020), J Med Genet

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C. et al, (2020), J Med Genet, 57, 414 - 421

Dynamics of the 4D genome during in vivo lineage specification and differentiation.

Oudelaar AM. et al, (2020), Nat Commun, 11

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