Ramsden SC - Search Results

1

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. Jiman OA, et al. Among authors: ramsden sc. Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. Eur J Hum Genet. 2020. PMID: 31836858 Free PMC article.

2

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. 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.

3

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. Kennedy J, et al. Eur J Hum Genet. 2005 May;13(5):547-55. doi: 10.1038/sj.ejhg.5201374. Eur J Hum Genet. 2005. PMID: 15756302 Free PMC article. Review.

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. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.

5

RPGR mutation analysis and disease: an update.

Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. Shu X, et al. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

6

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR. Hawkins M, et al. Among authors: ramsden sc. Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736975 Free PMC article.

7

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Boyle J, Hawkins M, Barton DE, Meaney K, Guitart M, O'Grady A, Tobi S, Ramsden SC, Elles R, Gray E, Metcalfe P, Hawkins JR. Boyle J, et al. Among authors: ramsden sc. Eur J Hum Genet. 2011 Aug;19(8):857-64. doi: 10.1038/ejhg.2011.59. Epub 2011 May 18. Eur J Hum Genet. 2011. PMID: 21587322 Free PMC article.

8

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.

9

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

10

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH. Davies WI, et al. Among authors: ramsden sc. Genet Med. 2012 Nov;14(11):891-9. doi: 10.1038/gim.2012.73. Epub 2012 Jul 12. Genet Med. 2012. PMID: 22791210 Free article.

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