Publications — Radcliffe Department of Medicine

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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

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

The incredible ULK improves β-thalassemia.

Babbs C., (2023), Blood, 142, 862 - 863

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

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

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Tillotson R. et al, (2023), Hum Mol Genet, 32, 2485 - 2501

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

Tillotson R. 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

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.

Dixon PH. 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

Scalable in vitro production of defined mouse erythroblasts.

Francis HS. et al, (2022), PLoS One, 17

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

Jeziorska DM. et al, (2021)

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

Scott C. et al, (2021), Haematologica, 106, 2960 - 2970

Reactivation of a developmentally silenced embryonic globin gene.

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

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

Olijnik A-A. et al, (2021), J Med Genet, 58, 185 - 195

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED. et al, (2020), Nature, 584

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED. et al, (2020), Nature, 583, 90 - 95

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E. et al, (2020), Nature, 583, 96 - 102

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

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

Variable cells with identical genetic codes.

Babbs C. and Higgs DR., (2020), Blood, 135, 1921 - 1922

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