Efficient extraction of small and large RNAs in bacteria for excellent total RNA sequencing and comprehensive transcriptome analysis

por Heera, Rajandas, Sivachandran, Parimannan, Chinni, Suresh V., Mason, Joanne, Croft, Larry, Ravichandran, Manickam, Su Yin, Lee
Publicado 2015

PB1809: COMPARISON OF OPTICAL GENOME MAPPING WITH STANDARD OF CARE TESTING TO INVESTIGATE GENOMIC ABNORMALITIES IN HAEMATOLOGICAL MALIGNANCIES: THE EXPERIENCE OF CENTRAL AND SOUTH...

por Muraru, Mariela, Skowronska, Anna, Wilding, Tyler, Dyer, Sara, Cross, Nick, Salmon, Matthew, Chiecchio, Laura, Beggs, Andrew, Mason, Joanne
Publicado 2023

PB2000: A COMPREHENSIVE NGS PANEL APPROACH FOR CLINICAL GENOMIC ANALYSIS IN HAEMATOLOGICAL MALIGNANCY

por Mason, Joanne, Skowronska, Anna, Barrows, Natalie, Hill, David, Page, Paula, Hamblin, Angela, Clokie, Sam, Feber, Andrew, Hastings, Robert, Cross, Nicholas
Publicado 2023

Consensus on BCR‐ABL1 reporting in chronic myeloid leukaemia in the UK

por Cross, Nicholas C. P., White, Helen E., Evans, Paul A. S., Hancock, Jeremy, Copland, Mhairi, Milojkovic, Dragana, Mason, Joanne, Craine, Sandra, Mead, Adam J.
Publicado 2018

Whole-genome sequencing investigation of animal-skin-drum-associated UK anthrax cases reveals evidence of mixed populations and relatedness to a US case

por Pullan, Steven T., Pearson, Talima R., Latham, Jennie, Mason, Joanne, Atkinson, Barry, Silman, Nigel J., Marston, Chung K., Sahl, Jason W., Birdsell, Dawn, Hoffmaster, Alex R., Keim, Paul, Vipond, Richard
Publicado 2015

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

por Deans, Zandra C, Costa, Jose Luis, Cree, Ian, Dequeker, Els, Edsjö, Anders, Henderson, Shirley, Hummel, Michael, Ligtenberg, Marjolijn JL, Loddo, Marco, Machado, Jose Carlos, Marchetti, Antonio, Marquis, Katherine, Mason, Joanne, Normanno, Nicola, Rouleau, Etienne, Schuuring, Ed, Snelson, Keeda-Marie, Thunnissen, Erik, Tops, Bastiaan, Williams, Gareth, van Krieken, Han, Hall, Jacqueline A
Publicado 2016

Molecular Epidemiologic Investigation of an Anthrax Outbreak among Heroin Users, Europe

por Price, Erin P., Seymour, Meagan L., Sarovich, Derek S., Latham, Jennie, Wolken, Spenser R., Mason, Joanne, Vincent, Gemma, Drees, Kevin P., Beckstrom-Sternberg, Stephen M., Phillippy, Adam M., Koren, Sergey, Okinaka, Richard T., Chung, Wai-Kwan, Schupp, James M., Wagner, David M., Vipond, Richard, Foster, Jeffrey T., Bergman, Nicholas H., Burans, James, Pearson, Talima, Brooks, Tim, Keim, Paul
Publicado 2012

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado 2016

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

Simultaneous sequencing of genetic and epigenetic bases in DNA

por Füllgrabe, Jens, Gosal, Walraj S., Creed, Páidí, Liu, Sidong, Lumby, Casper K., Morley, David J., Ost, Tobias W. B., Vilella, Albert J., Yu, Shirong, Bignell, Helen, Burns, Philippa, Charlesworth, Tom, Fu, Beiyuan, Fordham, Howerd, Harding, Nicolas J., Gandelman, Olga, Golder, Paula, Hodson, Christopher, Li, Mengjie, Lila, Marjana, Liu, Yang, Mason, Joanne, Mellad, Jason, Monahan, Jack M., Nentwich, Oliver, Palmer, Alexandra, Steward, Michael, Taipale, Minna, Vandomme, Audrey, San-Bento, Rita Santo, Singhal, Ankita, Vivian, Julia, Wójtowicz, Natalia, Williams, Nathan, Walker, Nicolas J., Wong, Nicola C. H., Yalloway, Gary N., Holbrook, Joanna D., Balasubramanian, Shankar
Publicado 2023

Hydroxymethylation profile of cell-free DNA is a biomarker for early colorectal cancer

por Walker, Nicolas J., Rashid, Mamunur, Yu, Shirong, Bignell, Helen, Lumby, Casper K., Livi, Carmen M., Howell, Kate, Morley, David J., Morganella, Sandro, Barrell, Daniel, Caim, Shabhonam, Gosal, Walraj, Füllgrabe, Jens, Charlesworth, Thomas J., Vasquez, Louella, Ahdesmäki, Miika, Eizenga, Jordan, Prabhat, Parul, Proutski, Vitali, Murat-Onana, Marie Laurie, Greenwood, Catherine J., Kirkwood, Lisa, Maisuria-Armer, Meeta, Li, Mengjie, Coats, Emma, Winfield, Victoria, MacBean, Lachlan, Stock, Toby, Tomé-Fernandez, Alice, Chan, Yat, Sheikh, Nasir, Golder, Paula, Steward, Michael, Ost, Tobias W. B., Stewart, Douglas, Vilella, Albert, Noursalehi, Mojtaba, Paten, Benedict, Lucarelli, Debora, Mason, Joanne, Ridge, Gareth, Mellad, Jason, Shirodkar, Suman, Balasubaramanian, Shankar, Holbrook, Joanna D.
Publicado 2022

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

por Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet
Publicado 2020

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023