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Elizabeth Ormondroyd
Elizabeth Ormondroyd
Verified email at cardiov.ox.ac.uk
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Year
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
3272015
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
1972020
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
1511994
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
1101990
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
1101990
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
1071995
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
1042017
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
982012
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
682021
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
682016
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
682016
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
652014
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
642013
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
572018
“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
512018
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 (1), 83-91, 1991
501991
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 (4), 527-538, 2007
462007
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
412019
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
371994
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
232017
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