Ramsden S - Search Results

1

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. Rowlands C, et al. Among authors: ramsden s. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.

2

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J. Ramsden S, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-61. doi: 10.1017/s0001566000001410. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872042

3

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. Among authors: ramsden s. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

4

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Among authors: ramsden s. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.

5

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.

Saihan Z, Li Z, Rice J, Rana NA, Ramsden S, Schlottmann PG, Jenkins SA, Blyth C, Black GC, McKie N, Webster AR. Saihan Z, et al. Among authors: ramsden s. Mol Vis. 2009 Jun 15;15:1218-30. Mol Vis. 2009. PMID: 19536307 Free PMC article.

6

Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories.

Higgs J, Gambhir N, Ramsden SC, Poulton K, Newman WG. Higgs J, et al. Genet Test Mol Biomarkers. 2010 Feb;14(1):121-5. doi: 10.1089/gtmb.2009.0156. Genet Test Mol Biomarkers. 2010. PMID: 20039783

7

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Burkitt Wright EM, Perveen R, Bowers N, Ramsden S, McCann E, O'Driscoll M, Lloyd IC, Clayton-Smith J, Black GC. Burkitt Wright EM, et al. Among authors: ramsden s. Br J Ophthalmol. 2010 Mar;94(3):386-8. doi: 10.1136/bjo.2009.159996. Br J Ophthalmol. 2010. PMID: 20215382 No abstract available.

8

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Ramsden SC, et al. BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70. BMC Med Genet. 2010. PMID: 20459762 Free PMC article.

9

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Ramsden SC, et al. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234150 Free PMC article. No abstract available.

10

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady A, Webster A, Ramsden SC, Black GC. O'Sullivan J, et al. Among authors: ramsden sc. J Med Genet. 2012 May;49(5):322-6. doi: 10.1136/jmedgenet-2012-100847. J Med Genet. 2012. PMID: 22581970

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