Publications — Radcliffe Department of Medicine

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Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus.

Downes DJ. et al, (2021), Nat Genet, 53, 1606 - 1615

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

High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale.

Downes DJ. et al, (2021), Nat Commun, 12

Targeted high-resolution chromosome conformation capture at genome-wide scale

Downes DJ. et al, (2020)

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions.

Brown JM. et al, (2018), Nat Commun, 9

Multiplexed analysis of chromosome conformation at vastly improved sensitivity.

Davies JOJ. et al, (2016), Nat Methods, 13, 74 - 80

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

Hughes JR. et al, (2014), Nat Genet, 46, 205 - 212

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs C. et al, (2013), Haematologica, 98, 1383 - 1387

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.

Renella R. et al, (2011), Blood, 117, 6928 - 6938

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1α localization in erythroblasts

Renella R. et al, (2011), Blood, 117, 6928 - 6938

Severe intrauterine anemia: a new form of epsilongammagammadeltabeta thalassemia presenting in utero in a Norwegian family.

Brantberg A. et al, (2009), Haematologica, 94, 1157 - 1159

A Transgenic Mouse Model for Congenital Dyserythropoietic Anemia Type I

Renella R. et al, (2008), BLOOD, 112, 1185 - 1186

Globin gene expression in Hb Lepore-BAC transgenic mice.

Sloane-Stanley J. et al, (2006), Br J Haematol, 135, 735 - 737

Haemopoietic progenitor cell lines generated by the myeloproliferative leukaemia virus: a model system to analyse murine and human lineage-affiliated genes.

Thomson AM. et al, (1999), Br J Haematol, 107, 33 - 48

Bb1-3, a transgenic hybrid cell line with erythroid and megakaryocytic differentiation potential that expresses high levels of human gamma-globin and human beta-globin.

Thomson AM. et al, (1998), Br J Haematol, 102, 976 - 985

Globin gene switching in transgenic mice carrying HS2-globin gene constructs.

Roberts NA. et al, (1997), Blood, 89, 713 - 723

Gene expression in somatic cell hybrids derived from embryonic mice transgenic for human globin genes.

Stanworth SJ. et al, (1996), Br J Haematol, 94, 631 - 638

Established epigenetic modifications determine the expression of developmentally regulated globin genes in somatic cell hybrids.

Stanworth SJ. et al, (1995), Mol Cell Biol, 15, 3969 - 3978

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