Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Autor Roberts, Hannah E., Lopopolo, Maria, Pagnamenta, Alistair T., Sharma, Eshita, Parkes, Duncan, Lonie, Lorne, Freeman, Colin, Knight, Samantha J. L., Lunter, Gerton, Dreau, Helene, Lockstone, Helen, Taylor, Jenny C., Schuh, Anna, Bowden, Rory, Buck, David
Vydáno v Sci Rep (2021)

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Autor Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Vydáno 2013

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Autor Petousi, Nayia, Copley, Richard R., Lappin, Terence R.J., Haggan, Sally E., Bento, Celeste M., Cario, Holger, Percy, Melanie J., Ratcliffe, Peter J., Robbins, Peter A., McMullin, Mary Frances, Donnelly, Peter, Bell, John, Bentley, David, McVean, Gil, Ratcliffe, Peter, Taylor, Jenny, Wilkie, Andrew, Donelly, Peter, Broxholme, John, Buck, David, Cazier, Jean-Baptiste, Cornall, Richard, Gregory, Lorna, Knight, Julian, Lunter, Gerton, McVean, Gil, Tomlinson, Ian, Wilkie, Andrew, Buck, David, Allan, Christopher, Attar, Moustafa, Green, Angie, Gregory, Lorna, Humphray, Sean, Kingsbury, Zoya, Lamble, Sarah, Lonie, Lorne, Pagnamenta, Alistair, Piazza, Paolo, Polanco, Guadelupe, Trebes, Amy, McVean, Gil, Donnelly, Peter, Cazier, Jean-Baptiste, Broxholme, John, Copley, Richard, Fiddy, Simon, Grocock, Russell, Hatton, Edouard, Holmes, Chris, Hughes, Linda, Humburg, Peter, Kanapin, Alexander, Lise, Stefano, Lunter, Gerton, Martin, Hilary, Murray, Lisa, McCarthy, Davis, Rimmer, Andy, Sahgal, Natasha, Wright, Ben, Yau, Chris
Vydáno 2014

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

Autor 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
Vydáno v Nat Genet (2015)