Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

por Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
Publicado 2017

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

por Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Publicado 2016

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

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

por Newbury, Dianne F, Mari, Francesca, Sadighi Akha, Elham, MacDermot, Kay D, Canitano, Roberto, Monaco, Anthony P, Taylor, Jenny C, Renieri, Alessandra, Fisher, Simon E, Knight, Samantha J L
Publicado 2013

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

por Pagnamenta, Alistair T., Howard, Malcolm F., Wisniewski, Eva, Popitsch, Niko, Knight, Samantha J.L., Keays, David A., Quaghebeur, Gerardine, Cox, Helen, Cox, Phillip, Balla, Tamas, Taylor, Jenny C., Kini, Usha
Publicado 2015

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

por Winter, Helen, Kaisaki, Pamela J., Harvey, Joe, Giacopuzzi, Edoardo, Ferla, Matteo P., Pentony, Melissa M., Knight, Samantha J.L., Sharma, Ricky A., Taylor, Jenny C., McCullagh, James S.O.
Publicado 2019

Genomic Imbalances Are Confined to Non-Proliferating Cells in Paediatric Patients with Acute Myeloid Leukaemia and a Normal or Incomplete Karyotype

por Ballabio, Erica, Regan, Regina, Garimberti, Elisa, Harbott, Jochen, Bradtke, Jutta, Teigler-Schlegel, Andrea, Biondi, Andrea, Cazzaniga, Giovanni, Giudici, Giovanni, Wainscoat, James S., Boultwood, Jacqueline, Bridger, Joanna M., Knight, Samantha J. L., Tosi, Sabrina
Publicado 2011

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

por 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
Publicado 2021

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

por Price, Thomas S., Regan, Regina, Mott, Richard, Hedman, Åsa, Honey, Ben, Daniels, Rachael J., Smith, Lee, Greenfield, Andy, Tiganescu, Ana, Buckle, Veronica, Ventress, Nicki, Ayyub, Helena, Salhan, Anita, Pedraza-Diaz, Susana, Broxholme, John, Ragoussis, Jiannis, Higgs, Douglas R., Flint, Jonathan, Knight, Samantha J. L.
Publicado 2005

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

por Babbs, Christian, Lloyd, Deborah, Pagnamenta, Alistair T, Twigg, Stephen R F, Green, Joanne, McGowan, Simon J, Mirza, Ghazala, Naples, Rebecca, Sharma, Vikram P, Volpi, Emanuela V, Buckle, Veronica J, Wall, Steven A, Knight, Samantha J L, Parr, Jeremy R, Wilkie, Andrew O M
Publicado 2014

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

por Schwarze, Katharina, Buchanan, James, Fermont, Jilles M., Dreau, Helene, Tilley, Mark W., Taylor, John M., Antoniou, Pavlos, Knight, Samantha J. L., Camps, Carme, Pentony, Melissa M., Kvikstad, Erika M., Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T., Schuh, Anna, Taylor, Jenny C., Wordsworth, Sarah
Publicado 2019

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

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

por Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Publicado 2015

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado 2016

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing

por Schuh, Anna, Dreau, Helene, Knight, Samantha J.L., Ridout, Kate, Mizani, Tuba, Vavoulis, Dimitris, Colling, Richard, Antoniou, Pavlos, Kvikstad, Erika M., Pentony, Melissa M., Hamblin, Angela, Protheroe, Andrew, Parton, Marina, Shah, Ketan A., Orosz, Zsolt, Athanasou, Nick, Hassan, Bass, Flanagan, Adrienne M., Ahmed, Ahmed, Winter, Stuart, Harris, Adrian, Tomlinson, Ian, Popitsch, Niko, Church, David, Taylor, Jenny C.
Publicado 2018

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

por 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.
Publicado 2013

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

por Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Publicado 2012

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

por Robbe, Pauline, Popitsch, Niko, Knight, Samantha J.L., Antoniou, Pavlos, Becq, Jennifer, He, Miao, Kanapin, Alexander, Samsonova, Anastasia, Vavoulis, Dimitrios V, Ross, Mark T., Kingsbury, Zoya, Cabes, Maite, Ramos, Sara D.C., Page, Suzanne, Dreau, Helene, Ridout, Kate, Jones, Louise J, Tuff-Lacey, Alice, Henderson, Shirley, Mason, Joanne, Buffa, Francesca M, Verrill, Clare, Maldonado-Perez, David, Roxanis, Ioannis, Collantes, Elena, Browning, Lisa, Dhar, Sunanda, Damato, Stephen, Davies, Susan, Caulfield, Mark, Bentley, David R., Taylor, Jenny C., Turnbull, Clare, Schuh, Anna
Publicado 2018

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

por Robbe, Pauline, Ridout, Kate E., Vavoulis, Dimitrios V., Dréau, Helene, Kinnersley, Ben, Denny, Nicholas, Chubb, Daniel, Appleby, Niamh, Cutts, Anthony, Cornish, Alex J., Lopez-Pascua, Laura, Clifford, Ruth, Burns, Adam, Stamatopoulos, Basile, Cabes, Maite, Alsolami, Reem, Antoniou, Pavlos, Oates, Melanie, Cavalieri, Doriane, Gibson, Jane, Prabhu, Anika V., Schwessinger, Ron, Jennings, Daisy, James, Terena, Maheswari, Uma, Duran-Ferrer, Martí, Carninci, Piero, Knight, Samantha J. L., Månsson, Robert, Hughes, Jim, Davies, James, Ross, Mark, Bentley, David, Strefford, Jonathan C., Devereux, Stephen, Pettitt, Andrew R., Hillmen, Peter, Caulfield, Mark J., Houlston, Richard S., Martín-Subero, José I., Schuh, Anna
Publicado 2022

Clinical spectrum of STX1B-related epileptic disorders

por Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Publicado 2019