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

بواسطة Ormondroyd, Elizabeth, Oates, Stephanie, Parker, Michael, Blair, Edward, Watkins, Hugh
منشور في 2014

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

بواسطة Mackley, Michael P., Fletcher, Benjamin, Parker, Michael, Watkins, Hugh, Ormondroyd, Elizabeth
الحاوية / القاعدة Genet Med (2017)

From Genotype to Phenotype: Clinical Assessment and Participant Perspective of a Secondary Genomic Finding Associated with Long QT Syndrome

بواسطة Mackley, Michael, McGuire, Karen, Taylor, Jenny, Watkins, Hugh, Ormondroyd, Elizabeth
الحاوية / القاعدة Circ Genom Precis Med (2018)

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

بواسطة Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth
الحاوية / القاعدة Eur J Hum Genet (2018)

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

بواسطة Buchanan, James, Blair, Edward, Thomson, Kate L., Ormondroyd, Elizabeth, Watkins, Hugh, Taylor, Jenny C., Wordsworth, Sarah
الحاوية / القاعدة Eur J Hum Genet (2019)

Genome Wide Identification of Recessive Cancer Genes by Combinatorial Mutation Analysis

بواسطة Volinia, Stefano, Mascellani, Nicoletta, Marchesini, Jlenia, Veronese, Angelo, Ormondroyd, Elizabeth, Alder, Hansjuerg, Palatini, Jeff, Negrini, Massimo, Croce, Carlo M.
منشور في 2008

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

بواسطة Ormondroyd, Elizabeth, Donnelly, Louise, Moynihan, Clare, Savona, Cornelie, Bancroft, Elizabeth, Evans, D Gareth, Eeles, Rosalind, Lavery, Stuart, Watson, Maggie
منشور في 2012

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th...

بواسطة Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Judith, Knight, Julian C, Taylor, Jenny C, Taylor, John, Watkins, Hugh
الحاوية / القاعدة Genet Med (2017)

Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers

بواسطة Lyon, Aurore, Ariga, Rina, Mincholé, Ana, Mahmod, Masliza, Ormondroyd, Elizabeth, Laguna, Pablo, de Freitas, Nando, Neubauer, Stefan, Watkins, Hugh, Rodriguez, Blanca
الحاوية / القاعدة Front Physiol (2018)

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

بواسطة Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
الحاوية / القاعدة Eur J Hum Genet (2017)

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

بواسطة Ormondroyd, Elizabeth, Harper, Andrew R., Thomson, Kate L., Mackley, Michael P., Martin, Jennifer, Penkett, Christopher J., Salatino, Silvia, Stark, Hannah, Stephens, Jonathan, Watkins, Hugh
الحاوية / القاعدة Eur J Hum Genet (2020)

Exploring the potential duty of care in clinical genomics under UK law

بواسطة Mitchell, Colin, Ploem, Corrette, Chico, Victoria, Ormondroyd, Elizabeth, Hall, Alison, Wallace, Susan, Fay, Michael, Goodwin, Deirdre, Bell, Jessica, Phillips, Simon, Taylor, Jenny C., Hennekam, Raoul, Kaye, Jane
الحاوية / القاعدة Med Law Int (2017)

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

بواسطة Harper, Andrew R., Goel, Anuj, Grace, Christopher, Thomson, Kate L., Petersen, Steffen E., Xu, Xiao, Waring, Adam, Ormondroyd, Elizabeth, Kramer, Christopher M., Ho, Carolyn Y., Neubauer, Stefan, Tadros, Rafik, Ware, James S., Bezzina, Connie R., Farrall, Martin, Watkins, Hugh
الحاوية / القاعدة Nat Genet (2021)

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

بواسطة Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H., Ormondroyd, Elizabeth, Patel, Smita Y., Pagnamenta, Alistair T., Taylor, Jenny C., Thomson, Kate L., Watkins, Hugh, Wilkie, Andrew O. M., Knight, Julian C.
الحاوية / القاعدة Genome Med (2019)

Reevaluation of the South Asian MYBPC3(Δ25bp) Intronic Deletion in Hypertrophic Cardiomyopathy

بواسطة Harper, Andrew R., Bowman, Michael, Hayesmoore, Jesse B.G., Sage, Helen, Salatino, Silvia, Blair, Edward, Campbell, Carolyn, Currie, Bethany, Goel, Anuj, McGuire, Karen, Ormondroyd, Elizabeth, Sergeant, Kate, Waring, Adam, Woodley, Jessica, Kramer, Christopher M., Neubauer, Stefan, Farrall, Martin, Watkins, Hugh, Thomson, Kate L.
الحاوية / القاعدة Circ Genom Precis Med (2020)

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

بواسطة Baxley, Ryan M., Leung, Wendy, Schmit, Megan M., Matson, Jacob Peter, Yin, Lulu, Oram, Marissa K., Wang, Liangjun, Taylor, John, Hedberg, Jack, Rogers, Colette B., Harvey, Adam J., Basu, Debashree, Taylor, Jenny C., Pagnamenta, Alistair T., Dreau, Helene, Craft, Jude, Ormondroyd, Elizabeth, Watkins, Hugh, Hendrickson, Eric A., Mace, Emily M., Orange, Jordan S., Aihara, Hideki, Stewart, Grant S., Blair, Edward, Cook, Jeanette Gowen, Bielinsky, Anja-Katrin
الحاوية / القاعدة Nat Commun (2021)

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

بواسطة Thomson, Kate L., Ormondroyd, Elizabeth, Harper, Andrew R., Dent, Tim, McGuire, Karen, Baksi, John, Blair, Edward, Brennan, Paul, Buchan, Rachel, Bueser, Teofila, Campbell, Carolyn, Carr-White, Gerald, Cook, Stuart, Daniels, Matthew, Deevi, Sri V. V., Goodship, Judith, Hayesmoore, Jesse B. G, Henderson, Alex, Lamb, Teresa, Prasad, Sanjay, Rayner-Matthews, Paula, Robert, Leema, Sneddon, Linda, Stark, Hannah, Walsh, Roddy, Ware, James S., Farrall, Martin, Watkins, Hugh C.
الحاوية / القاعدة Genet Med (2018)

Whole-genome sequencing of patients with rare diseases in a national health system

بواسطة Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B, Saleem, Moin A, Smith, Kenneth G C, Stark, Hannah, Tan, Rhea Y Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H
الحاوية / القاعدة Nature (2020)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

بواسطة Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
الحاوية / القاعدة Nat Genet (2015)