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295 results

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Page 1
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Scott C, Downes DJ, Brown JM, Beagrie R, Olijnik AA, Gosden M, Schwessinger R, Fisher CA, Rose A, Ferguson DJP, Johnson E, Hill QA, Okoli S, Renella R, Ryan K, Brand M, Hughes J, Roy NBA, Higgs DR, Babbs C, Buckle VJ. Scott C, et al. Among authors: babbs c. Haematologica. 2021 Nov 1;106(11):2960-2970. doi: 10.3324/haematol.2020.260158. Haematologica. 2021. PMID: 33121234 Free PMC article.
Nprl3 is required for normal development of the cardiovascular system.
Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Kowalczyk MS, et al. Among authors: babbs c. Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27. Mamm Genome. 2012. PMID: 22538705
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC); Parr JR, Wilkie AO. Babbs C, et al. J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16. J Med Genet. 2014. PMID: 25228304 Free PMC article.
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. Hay D, et al. Among authors: babbs c. Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4. Nat Genet. 2016. PMID: 27376235 Free PMC article.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedgård U, Higgs D, Roberts D, Roberts I, Schuh A. Roy NB, et al. Among authors: babbs c. Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27432187 Free PMC article.
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. Nguyen DT, et al. Among authors: babbs c. EMBO Rep. 2017 Jun;18(6):914-928. doi: 10.15252/embr.201643078. Epub 2017 May 9. EMBO Rep. 2017. PMID: 28487353 Free PMC article.
295 results