Higgs DR - Search Results

1

Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.

White JM, Christie BS, Nam D, Daar S, Higgs DR. White JM, et al. Among authors: higgs dr. J Med Genet. 1993 May;30(5):396-400. doi: 10.1136/jmg.30.5.396. J Med Genet. 1993. PMID: 8320702 Free PMC article.

2

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ. Babbs C, et al. Among authors: higgs dr. J Med Genet. 2020 Jun;57(6):414-421. doi: 10.1136/jmedgenet-2019-106528. Epub 2020 Jan 31. J Med Genet. 2020. PMID: 32005695 Free PMC article.

3

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

Olijnik AA, Roy NBA, Scott C, Marsh JA, Brown J, Lauschke K, Ask K, Roberts N, Downes DJ, Brolih S, Johnson E, Xella B, Proven M, Hipkiss R, Ryan K, Frisk P, Mäkk J, Stattin EM, Sadasivam N, McIlwaine L, Hill QA, Renella R, Hughes JR, Gibbons RJ, Groth A, McHugh PJ, Higgs DR, Buckle VJ, Babbs C. Olijnik AA, et al. Among authors: higgs dr. J Med Genet. 2021 Mar;58(3):185-195. doi: 10.1136/jmedgenet-2020-106880. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518175 Free PMC article.

4

The red cell distribution width in sickle cell disease--is it of clinical value?

Thame M, Grandison Y, Mason K, Thompson M, Higgs D, Morris J, Serjeant B, Serjeant G. Thame M, et al. Clin Lab Haematol. 1991;13(3):229-37. doi: 10.1111/j.1365-2257.1991.tb00277.x. Clin Lab Haematol. 1991. PMID: 1794225

5

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease.

Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR. Tufarelli C, et al. Among authors: higgs dr. Nat Genet. 2003 Jun;34(2):157-65. doi: 10.1038/ng1157. Nat Genet. 2003. PMID: 12730694

6

Functional significance of mutations in the Snf2 domain of ATRX.

Mitson M, Kelley LA, Sternberg MJ, Higgs DR, Gibbons RJ. Mitson M, et al. Among authors: higgs dr. Hum Mol Genet. 2011 Jul 1;20(13):2603-10. doi: 10.1093/hmg/ddr163. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505078

7

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR. Gibbons RJ, et al. Among authors: higgs dr. Nat Genet. 2003 Aug;34(4):446-9. doi: 10.1038/ng1213. Nat Genet. 2003. PMID: 12858175

8

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: higgs dr. 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.

9

Alpha-thalassaemia.

Harteveld CL, Higgs DR. Harteveld CL, et al. Among authors: higgs dr. Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. Orphanet J Rare Dis. 2010. PMID: 20507641 Free PMC article. Review.

10

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.

Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR. Viprakasit V, et al. Among authors: higgs dr. Br J Haematol. 2003 Mar;120(5):867-75. doi: 10.1046/j.1365-2141.2003.04197.x. Br J Haematol. 2003. PMID: 12614224 Free article.

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