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Molecular Basis and Genetic Modifiers of Thalassemia.

Mettananda S, Higgs DR.

Hematol Oncol Clin North Am. 2018 Apr;32(2):177-191. doi: 10.1016/j.hoc.2017.11.003. Review.


Phenotypic and molecular characterization of a serum-free miniature erythroid differentiation system suitable for high-throughput screening and single-cell assays.

Mettananda S, Clark K, Fisher CA, Sloane-Stanley JA, Gibbons RJ, Higgs DR.

Exp Hematol. 2018 Apr;60:10-20. doi: 10.1016/j.exphem.2018.01.001. Epub 2018 Jan 9.


Robust detection of chromosomal interactions from small numbers of cells using low-input Capture-C.

Oudelaar AM, Davies JOJ, Downes DJ, Higgs DR, Hughes JR.

Nucleic Acids Res. 2017 Dec 15;45(22):e184. doi: 10.1093/nar/gkx1194.


Between form and function: the complexity of genome folding.

Oudelaar AM, Hanssen LLP, Hardison RC, Kassouf MT, Hughes JR, Higgs DR.

Hum Mol Genet. 2017 Oct 1;26(R2):R208-R215. doi: 10.1093/hmg/ddx306. Review.


Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Schwessinger R, Suciu MC, McGowan SJ, Telenius J, Taylor S, Higgs DR, Hughes JR.

Genome Res. 2017 Oct;27(10):1730-1742. doi: 10.1101/gr.220202.117. Epub 2017 Sep 13.


Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia.

Mettananda S, Fisher CA, Hay D, Badat M, Quek L, Clark K, Hublitz P, Downes D, Kerry J, Gosden M, Telenius J, Sloane-Stanley JA, Faustino P, Coelho A, Doondeea J, Usukhbayar B, Sopp P, Sharpe JA, Hughes JR, Vyas P, Gibbons RJ, Higgs DR.

Nat Commun. 2017 Sep 4;8(1):424. doi: 10.1038/s41467-017-00479-7.


DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease.

Jeziorska DM, Murray RJS, De Gobbi M, Gaentzsch R, Garrick D, Ayyub H, Chen T, Li E, Telenius J, Lynch M, Graham B, Smith AJH, Lund JN, Hughes JR, Higgs DR, Tufarelli C.

Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):E7526-E7535. doi: 10.1073/pnas.1703087114. Epub 2017 Aug 21.


Tissue-specific CTCF-cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo.

Hanssen LLP, Kassouf MT, Oudelaar AM, Biggs D, Preece C, Downes DJ, Gosden M, Sharpe JA, Sloane-Stanley JA, Hughes JR, Davies B, Higgs DR.

Nat Cell Biol. 2017 Aug;19(8):952-961. doi: 10.1038/ncb3573. Epub 2017 Jul 24.


The chromatin remodelling factor ATRX suppresses R-loops in transcribed telomeric repeats.

Nguyen DT, Voon HPJ, Xella B, Scott C, Clynes D, Babbs C, Ayyub H, Kerry J, Sharpe JA, Sloane-Stanley JA, Butler S, Fisher CA, Gray NE, Jenuwein T, Higgs DR, Gibbons RJ.

EMBO Rep. 2017 Jun;18(6):914-928. doi: 10.15252/embr.201643078. Epub 2017 May 9.


Functional characterisation of cis-regulatory elements governing dynamic Eomes expression in the early mouse embryo.

Simon CS, Downes DJ, Gosden ME, Telenius J, Higgs DR, Hughes JR, Costello I, Bikoff EK, Robertson EJ.

Development. 2017 Apr 1;144(7):1249-1260. doi: 10.1242/dev.147322. Epub 2017 Feb 7.


How best to identify chromosomal interactions: a comparison of approaches.

Davies JO, Oudelaar AM, Higgs DR, Hughes JR.

Nat Methods. 2017 Jan 31;14(2):125-134. doi: 10.1038/nmeth.4146. Review.


An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Songdej D, Babbs C, Higgs DR; BHFS International Consortium.

Blood. 2017 Mar 9;129(10):1251-1259. doi: 10.1182/blood-2016-08-697110. Epub 2017 Jan 5. Review.


Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia.

Mettananda S, Fisher CA, Sloane-Stanley JA, Taylor S, Oppermann U, Gibbons RJ, Higgs DR.

Haematologica. 2017 Mar;102(3):e80-e84. doi: 10.3324/haematol.2016.155655. Epub 2016 Nov 3. No abstract available.


Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL.

Br J Haematol. 2018 Jan;180(1):160-164. doi: 10.1111/bjh.14294. Epub 2016 Jul 29. No abstract available.


Genetic dissection of the α-globin super-enhancer in vivo.

Hay D, Hughes JR, Babbs C, Davies JOJ, Graham BJ, Hanssen L, Kassouf MT, Marieke Oudelaar AM, Sharpe JA, Suciu MC, Telenius J, Williams R, Rode C, Li PS, Pennacchio LA, Sloane-Stanley JA, Ayyub H, Butler S, Sauka-Spengler T, Gibbons RJ, Smith AJH, Wood WG, Higgs DR.

Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4.


MicroRNAs of the miR-290-295 Family Maintain Bivalency in Mouse Embryonic Stem Cells.

Graham B, Marcais A, Dharmalingam G, Carroll T, Kanellopoulou C, Graumann J, Nesterova TB, Bermange A, Brazauskas P, Xella B, Kriaucionis S, Higgs DR, Brockdorff N, Mann M, Fisher AG, Merkenschlager M.

Stem Cell Reports. 2016 May 10;6(5):635-642. doi: 10.1016/j.stemcr.2016.03.005. Epub 2016 Apr 14.


Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Perkins A, Xu X, Higgs DR, Patrinos GP, Arnaud L, Bieker JJ, Philipsen S; KLF1 Consensus Workgroup.

Blood. 2016 Apr 14;127(15):1856-62. doi: 10.1182/blood-2016-01-694331. Epub 2016 Feb 22. Review.


Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin.

Masuda T, Wang X, Maeda M, Canver MC, Sher F, Funnell AP, Fisher C, Suciu M, Martyn GE, Norton LJ, Zhu C, Kurita R, Nakamura Y, Xu J, Higgs DR, Crossley M, Bauer DE, Orkin SH, Kharchenko PV, Maeda T.

Science. 2016 Jan 15;351(6270):285-9. doi: 10.1126/science.aad3312.


Understanding α-globin gene regulation and implications for the treatment of β-thalassemia.

Mettananda S, Gibbons RJ, Higgs DR.

Ann N Y Acad Sci. 2016 Mar;1368(1):16-24. doi: 10.1111/nyas.12988. Epub 2015 Dec 22. Review.


Studying epigenomics in single cells: what is feasible and what can we learn?

Wills QF, Higgs DR, Mead AJ.

Epigenomics. 2015;7(8):1231-4. doi: 10.2217/epi.15.93. Epub 2015 Dec 8. No abstract available.

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