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Elizabeth Ormondroyd
Elizabeth Ormondroyd
在 cardiov.ox.ac.uk 的电子邮件经过验证
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引用次数
引用次数
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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
4152015
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
4122020
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
2002021
Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110α (PIK3CA) gene
S Volinia, I Hiles, E Ormondroyd, D Nizetic, R Antonacci, M Rocchi, ...
Genomics 24 (3), 472-477, 1994
1621994
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
1492017
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
1132012
A new member of the DP family, DP-3, with distinct protein products suggests a regulatory role for alternative splicing in the cell cycle transcription factor DRTF1/E2F.
E Ormondroyd, S De La Luna, NB La Thangue
Oncogene 11 (8), 1437-1446, 1995
1101995
Physical maps of 4p16. 3, the area expected to contain the Huntington disease mutation
M Bućan, M Zimmer, WL Whaley, A Poustka, S Youngman, BA Allitto, ...
Genomics 6 (1), 1-15, 1990
1091990
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
892016
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
882018
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
842013
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
832014
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
652018
“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
632018
Mapping of cosmid clones in Huntington's disease region of chromosome 4
WL Whaley, GP Bates, A Novelletto, Z Sedlacek, S Cheng, D Romano, ...
Somatic cell and molecular genetics 17, 83-91, 1991
541991
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
532019
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
462007
Molecular characterization of Xenopus laevis DP proteins.
R Girling, LR Bandara, E Ormondroyd, EW Lam, S Kotecha, T Mohun, ...
Molecular biology of the cell 5 (10), 1081-1092, 1994
411994
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
382018
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
362018
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