受强制性开放获取政策约束的文章 - Elizabeth Ormondroyd了解详情
可在其他位置公开访问的文章：47 篇
查看
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
强制性开放获取政策： European Molecular Biology Laboratory, British Heart Foundation, Cancer …
查看
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
强制性开放获取政策： Swiss National Science Foundation, National Fund for Scientific Research …
查看
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
AR Harper, A Goel, C Grace, KL Thomson, SE Petersen, X Xu, A Waring, ...
Nature genetics 53 (2), 135-142, 2021
强制性开放获取政策： US National Institutes of Health, British Heart Foundation, Cancer Research …
查看
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
MP Mackley, B Fletcher, M Parker, H Watkins, E Ormondroyd
Genetics in Medicine 19 (3), 283-293, 2017
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
查看
Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis
E Ormondroyd, L Donnelly, C Moynihan, C Savona, E Bancroft, DG Evans, ...
European Journal of Human Genetics 20 (1), 4-10, 2012
强制性开放获取政策： Cancer Research UK
查看
Distinct ECG phenotypes identified in hypertrophic cardiomyopathy using machine learning associate with arrhythmic risk markers
A Lyon, R Ariga, A Mincholé, M Mahmod, E Ormondroyd, P Laguna, ...
Frontiers in physiology 9, 213, 2018
强制性开放获取政策： British Heart Foundation, National Centre for the Replacement, Refinement …
查看
Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of …
R Hastings, CP De Villiers, C Hooper, L Ormondroyd, A Pagnamenta, ...
Circulation: Cardiovascular Genetics 9 (5), 426-435, 2016
强制性开放获取政策： British Heart Foundation, UK Medical Research Council, National Institute …
查看
Reproductive decision-making in young female carriers of a BRCA mutation
LS Donnelly, M Watson, C Moynihan, E Bancroft, DGR Evans, R Eeles, ...
Human Reproduction 28 (4), 1006-1012, 2013
强制性开放获取政策： Cancer Research UK
查看
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications
E Ormondroyd, S Oates, M Parker, E Blair, H Watkins
European Journal of Human Genetics 22 (1), 88-93, 2014
强制性开放获取政策： Wellcome Trust
查看
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch
Scientific reports 8 (1), 1300, 2018
强制性开放获取政策： British Heart Foundation, Cancer Research UK, UK Medical Research Council …
查看
“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team …
E Ormondroyd, MP Mackley, E Blair, J Craft, JC Knight, JC Taylor, J Taylor, ...
Genetics in Medicine 20 (3), 320-328, 2018
强制性开放获取政策： Versus Arthritis, UK, National Institute for Health Research, UK, Wellcome Trust
查看
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
KL Thomson, E Ormondroyd, AR Harper, T Dent, K McGuire, J Baksi, ...
Genetics in Medicine 21 (7), 1576-1584, 2019
强制性开放获取政策： British Heart Foundation, UK Medical Research Council, National Institute …
查看
Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives
E Ormondroyd, C Moynihan, M Watson, C Foster, S Davolls, ...
Journal of genetic counseling 16, 527-538, 2007
强制性开放获取政策： Cancer Research UK
查看
De novo truncating mutations in WASF1 cause intellectual disability with seizures
Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ...
The American Journal of Human Genetics 103 (1), 144-153, 2018
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada, British Heart …
查看
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study
MP Mackley, E Blair, M Parker, JC Taylor, H Watkins, E Ormondroyd
European Journal of Human Genetics 26 (5), 652-659, 2018
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
查看
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
E Ormondroyd, MP Mackley, E Blair, J Craft, JC Knight, J Taylor, JC Taylor, ...
European Journal of Human Genetics 25 (6), 680-686, 2017
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust, European Commission
查看
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy
AR Harper, M Bowman, JBG Hayesmoore, H Sage, S Salatino, E Blair, ...
Circulation: Genomic and Precision Medicine 13 (3), e002783, 2020
强制性开放获取政策： US National Institutes of Health, British Heart Foundation, UK Medical …
查看
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
RM Baxley, W Leung, MM Schmit, JP Matson, L Yin, MK Oram, L Wang, ...
Nature communications 12 (1), 1626, 2021
强制性开放获取政策： US National Science Foundation, US National Institutes of Health, Cancer …
查看
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
J Taylor, J Craft, E Blair, S Wordsworth, D Beeson, S Chandratre, ...
Genome medicine 11, 1-12, 2019
强制性开放获取政策： Versus Arthritis, UK, UK Medical Research Council, National Institute for …
查看
Exploring the potential duty of care in clinical genomics under UK law
C Mitchell, C Ploem, V Chico, E Ormondroyd, A Hall, S Wallace, M Fay, ...
Medical law international 17 (3), 158-182, 2017
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
出版信息和资助信息由计算机程序自动确定