Genomic health data generation in the UK: a 360 view

por Ormondroyd, Elizabeth, Border, Peter, Hayward, Judith, Papanikitas, Andrew
Publicado 2021

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

por Mackley, Michael P., Fletcher, Benjamin, Parker, Michael, Watkins, Hugh, Ormondroyd, Elizabeth
Publicado 2017

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

por Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth
Publicado 2018

Genomic sequencing in oncology: Considerations for integration in routine cancer care

por Rahman, Belinda, Lamb, Alastair, Protheroe, Andrew, Shah, Ketan, Solomons, Joyce, Williams, Jonathan, Ormondroyd, Elizabeth
Publicado 2022

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

por Buchanan, James, Blair, Edward, Thomson, Kate L., Ormondroyd, Elizabeth, Watkins, Hugh, Taylor, Jenny C., Wordsworth, Sarah
Publicado 2019

Genome Wide Identification of Recessive Cancer Genes by Combinatorial Mutation Analysis

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

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

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Judith, Knight, Julian C, Taylor, Jenny C, Taylor, John, Watkins, Hugh
Publicado 2017

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

por Lyon, Aurore, Ariga, Rina, Mincholé, Ana, Mahmod, Masliza, Ormondroyd, Elizabeth, Laguna, Pablo, de Freitas, Nando, Neubauer, Stefan, Watkins, Hugh, Rodriguez, Blanca
Publicado 2018

Taking it to the bank: the ethical management of individual findings arising in secondary research

por Graham, Mackenzie, Hallowell, Nina, Solberg, Berge, Haukkala, Ari, Holliday, Joanne, Kerasidou, Angeliki, Littlejohns, Thomas, Ormondroyd, Elizabeth, Skolbekken, John-Arne, Vornanen, Marleena
Publicado 2021

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

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Publicado 2017

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

por Ormondroyd, Elizabeth, Harper, Andrew R., Thomson, Kate L., Mackley, Michael P., Martin, Jennifer, Penkett, Christopher J., Salatino, Silvia, Stark, Hannah, Stephens, Jonathan, Watkins, Hugh
Publicado 2020

Right ventricular function declines prior to left ventricular ejection fraction in hypertrophic cardiomyopathy

por Mahmod, Masliza, Raman, Betty, Chan, Kenneth, Sivalokanathan, Sanjay, Smillie, Robert W., Samat, Azlan H. Abd, Ariga, Rina, Dass, Sairia, Ormondroyd, Elizabeth, Watkins, Hugh, Neubauer, Stefan
Publicado 2022

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

por 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
Publicado 2017

A practical checklist for return of results from genomic research in the European context

por Vears, Danya F., Hallowell, Nina, Bentzen, Heidi Beate, Ellul, Bridget, Nøst, Therese Haugdahl, Kerasidou, Angeliki, Kerr, Shona M., Th. Mayrhofer, Michaela, Mežinska, Signe, Ormondroyd, Elizabeth, Solberg, Berge, Sand, Birgitte Wirum, Budin-Ljøsne, Isabelle
Publicado 2023

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance st...

por Raman, Betty, Smillie, Robert W., Mahmod, Masliza, Chan, Kenneth, Ariga, Rina, Nikolaidou, Chrysovalantou, Ormondroyd, Elizabeth, Thomson, Kate, Harper, Andrew R., Tan, Gifford, Lewandowski, Adam J., Rodriguez Bajo, Fernando, Wicks, Eleanor C., Casadei, Barbara, Watkins, Hugh, Neubauer, Stefan
Publicado 2021

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

por 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.
Publicado 2019

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

por 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.
Publicado 2020

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

por McGurk, Kathryn A., Zhang, Xiaolei, Theotokis, Pantazis, Thomson, Kate, Harper, Andrew, Buchan, Rachel J., Mazaika, Erica, Ormondroyd, Elizabeth, Wright, William T., Macaya, Daniela, Pua, Chee Jian, Funke, Birgit, MacArthur, Daniel G., Prasad, Sanjay K., Cook, Stuart A., Allouba, Mona, Aguib, Yasmine, Yacoub, Magdi H., O'Regan, Declan P., Barton, Paul J.R., Watkins, Hugh, Bottolo, Leonardo, Ware, James S.
Publicado 2023

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

por 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
Publicado 2021

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

por 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.
Publicado 2018