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 | 415 | 2015 |
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 | 412 | 2020 |
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 | 200 | 2021 |
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 | 162 | 1994 |
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 | 149 | 2017 |
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 | 113 | 2012 |
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 | 110 | 1995 |
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 | 109 | 1990 |
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 | 89 | 2016 |
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 | 88 | 2018 |
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 | 84 | 2013 |
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 | 83 | 2014 |
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 | 65 | 2018 |
“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 | 63 | 2018 |
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 | 54 | 1991 |
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 | 53 | 2019 |
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 | 46 | 2007 |
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 | 41 | 1994 |
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 | 38 | 2018 |
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 | 36 | 2018 |