Publications — Radcliffe Department of Medicine

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Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors

Williams R. et al, (2022)

LanceOtron: a deep learning peak caller for genome sequencing experiments.

Hentges LD. et al, (2022), Bioinformatics

Chromatin interaction maps identify Wnt responsive cis-regulatory elements coordinating Paupar-Pax6 expression in neuronal cells.

Pavlaki I. et al, (2022), PLoS genetics, 18

Capture-C: a modular and flexible approach for high-resolution chromosome conformation capture.

Downes DJ. et al, (2022), Nat Protoc

Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells

Torres J. et al, (2022)

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

DOWNES D. et al, (2021), Nature Genetics

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

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

Making connections: enhancers in cellular differentiation

Herrmann JC. et al, (2021), Trends in Genetics

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

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

Multi Locus View: an extensible web-based tool for the analysis of genomic data.

Sergeant MJ. et al, (2021), Commun Biol, 4

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.

Potter JE. et al, (2021), Orphanet J Rare Dis, 16

Chromatin interaction maps identify Wnt responsive cis-regulatory elements coordinating Paupar-Pax6 expression in neuronal cells

Pavlaki I. et al, (2021)

Fra-1 regulates its target genes via binding to remote enhancers without exerting major control on chromatin architecture in triple negative breast cancers.

Bejjani F. et al, (2021), Nucleic Acids Res, 49, 2488 - 2508

Enhancers predominantly regulate gene expression during differentiation via transcription initiation.

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

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

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

Chromosome Conformation Capture with Nuclear Titrated Capture-C (NuTi Capture-C)

Downes DJ. and Hughes JR., (2021)

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

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

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