Ormondroyd E - Search Results

1

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.

Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, Broadgate S, Butler S, Cazeaux A, Craft J, Cranston T, Crawford G, Forrest J, Gabriel J, George E, Gillen D, Haeger A, Hastings Ward J, Hawkes L, Hodgkiss C, Hoffman J, Jones A, Karpe F, Kasperaviciute D, Kovacs E, Leigh S, Limb E, Lloyd-Jani A, Lopez J, Lucassen A, McFarlane C, O'Rourke AW, Pond E, Sherman C, Stewart H, Thomas E, Thomas S, Thomas T, Thomson K, Wakelin H, Walker S, Watson M, Williams E, Ormondroyd E. Nolan J, et al. Among authors: ormondroyd e. Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131308 Free article.

2

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.

Ormondroyd E, Oates S, Parker M, Blair E, Watkins H. Ormondroyd E, et al. Eur J Hum Genet. 2014 Jan;22(1):88-93. doi: 10.1038/ejhg.2013.81. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632793 Free PMC article.

3

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.

Mackley MP, Fletcher B, Parker M, Watkins H, Ormondroyd E. Mackley MP, et al. Among authors: ormondroyd e. Genet Med. 2017 Mar;19(3):283-293. doi: 10.1038/gim.2016.109. Epub 2016 Sep 1. Genet Med. 2017. PMID: 27584911 Free PMC article. Review.

4

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor J, Taylor JC, Wilkie AO, Watkins H. Ormondroyd E, et al. Eur J Hum Genet. 2017 Jun;25(6):680-686. doi: 10.1038/ejhg.2017.37. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327571 Free PMC article.

5

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor JC, Taylor J, Watkins H. Ormondroyd E, et al. Genet Med. 2018 Mar;20(3):320-328. doi: 10.1038/gim.2017.157. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261176 Free PMC article.

6

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Mackley MP, Blair E, Parker M, Taylor JC, Watkins H, Ormondroyd E. Mackley MP, et al. Among authors: ormondroyd e. Eur J Hum Genet. 2018 May;26(5):652-659. doi: 10.1038/s41431-018-0106-6. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440777 Free PMC article.

7

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium. Thomson KL, et al. Among authors: ormondroyd e. Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11. Genet Med. 2019. PMID: 30531895 Free PMC article.

8

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.

Buchanan J, Blair E, Thomson KL, Ormondroyd E, Watkins H, Taylor JC, Wordsworth S. Buchanan J, et al. Among authors: ormondroyd e. Eur J Hum Genet. 2019 Nov;27(11):1639-1648. doi: 10.1038/s41431-019-0452-z. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186546 Free PMC article.

9

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM, Knight JC. Taylor J, et al. Among authors: ormondroyd e. Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9. Genome Med. 2019. PMID: 31345272 Free PMC article.

10

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.

Ormondroyd E, Harper AR, Thomson KL, Mackley MP, Martin J, Penkett CJ, Salatino S, Stark H, Stephens J, Watkins H. Ormondroyd E, et al. Eur J Hum Genet. 2020 Nov;28(11):1486-1496. doi: 10.1038/s41431-020-0694-9. Epub 2020 Jul 20. Eur J Hum Genet. 2020. PMID: 32686758 Free PMC article.

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