Aligning the Economic Value of Companion Diagnostics and Stratified Medicines

por Blair, Edward D., Stratton, Elyse K., Kaufmann, Martina
Publicado 2012

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

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

“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

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

por Pollock, Lily, Ridout, Ashley, Teh, James, Nnadi, Colin, Stavroulias, Dionisios, Pitcher, Alex, Blair, Edward, Wordsworth, Paul, Vincent, Tonia L.
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

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

por Wordsworth, Sarah, Buchanan, James, Regan, Regina, Davison, Val, Smith, Kim, Dyer, Sara, Campbell, Carolyn, Blair, Edward, Maher, Eddy, Taylor, Jenny, Knight, Samantha J. L.
Publicado 2007

Aortic dissection: visualisation of aortic blood flow and quantification of wall shear stress using time-resolved, 3D phase-contrast MRI

por Pitcher, Alex, Cassar, Tom E, Leeson, Paul, Francis, Jane M, Blair, Edward, Wordsworth, Paul B, Forfar, J Colin, Petersen, Steffen E, Markl, Michael, Neubauer, Stefan
Publicado 2011

Visualisation of aortic flow disturbance in Marfan syndrome by 4D phase-contrast CMR

por Pitcher, Alex, Cassar, Tom E, Suttie, Joseph, Francis, Jane M, Leeson, Paul, Blair, Edward, Wordsworth, B Paul, Forfar, J Colin, Myerson, Saul G, Markl, Michael, Neubauer, Stefan, Petersen, Steffen E
Publicado 2011

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

por Kienzler, Anne-Kathrin, van Schouwenburg, Pauline A., Taylor, John, Marwah, Ishita, Sharma, Richa U., Noakes, Charlotte, Thomson, Kate, Sadler, Ross, Segal, Shelley, Ferry, Berne, Taylor, Jenny C., Blair, Edward, Chapel, Helen, Patel, Smita Y.
Publicado 2016

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

por Bayley, Jean-Pierre, van Minderhout, Ivonne, Weiss, Marjan M, Jansen, Jeroen C, Oomen, Peter HN, Menko, Fred H, Pasini, Barbara, Ferrando, Barbara, Wong, Nora, Alpert, Lesley C, Williams, Rosie, Blair, Edward, Devilee, Peter, Taschner, Peter EM
Publicado 2006

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

por Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Publicado 2013

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

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

por Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh
Publicado 2017

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

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 Lef...

por Hastings, Robert, de Villiers, Carin P., Hooper, Charlotte, Ormondroyd, Liz, Pagnamenta, Alistair, Lise, Stefano, Salatino, Silvia, Knight, Samantha J.L., Taylor, Jenny C., Thomson, Kate L., Arnold, Linda, Chatziefthimiou, Spyros D., Konarev, Petr V., Wilmanns, Matthias, Ehler, Elisabeth, Ghisleni, Andrea, Gautel, Mathias, Blair, Edward, Watkins, Hugh, Gehmlich, Katja
Publicado 2016

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

por Musante, Luciana, Faletra, Flavio, Meier, Kolja, Tomoum, Hoda, Najarzadeh Torbati, Paria, Blair, Edward, North, Sally, Gärtner, Jutta, Diegmann, Susann, Beiraghi Toosi, Mehran, Ashrafzadeh, Farah, Ghayoor Karimiani, Ehsan, Murphy, David, Murru, Flora Maria, Zanus, Caterina, Magnolato, Andrea, La Bianca, Martina, Feresin, Agnese, Girotto, Giorgia, Gasparini, Paolo, Costa, Paola, Carrozzi, Marco
Publicado 2022

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

por Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Publicado 2019

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

por Morison, Lottie D, Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A, Amor, David J, Kleefstra, Tjitske, Fisher, Simon E, Zweier, Christiane, Morgan, Angela T
Publicado 2023

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado 2019