Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Wong, Marie, Mayoh, Chelsea, Lau, Loretta M S, Khuong-Quang, Dong-Anh, Pinese, Mark, Kumar, Amit, Barahona, Paulette, Wilkie, Emilie E, Sullivan, Patricia, Bowen-James, Rachel, Syed, Mustafa, Martincorena, Iñigo, Abascal, Federico, Sherstyuk, Alexandra, Bolanos, Noemi A, Baber, Jonathan, Priestley, Peter, Dolman, M Emmy M, Fleuren, Emmy D G, Gauthier, Marie-Emilie, Mould, Emily V A, Gayevskiy, Velimir, Gifford, Andrew J, Grebert-Wade, Dylan, Strong, Patrick A, Manouvrier, Elodie, Warby, Meera, Thomas, David M, Kirk, Judy, Tucker, Katherine, O'Brien, Tracey, Alvaro, Frank, McCowage, Geoffry B, Dalla-Pozza, Luciano, Gottardo, Nicholas G, Tapp, Heather, Wood, Paul, Khaw, Seong-Lin, Hansford, Jordan R, Moore, Andrew S, Norris, Murray D, Trahair, Toby N, Lock, Richard B, Tyrrell, Vanessa, Haber, Michelle, Marshall, Glenn M, Ziegler, David S, Ekert, Paul G, Cowley, Mark J
Published in Nature medicine (01.11.2020)
Published in Nature medicine (01.11.2020)
Get full text
Journal Article
Seave: a comprehensive web platform for storing and interrogating human genomic variation
Gayevskiy, Velimir, Roscioli, Tony, Dinger, Marcel E, Cowley, Mark J
Published in Bioinformatics (01.01.2019)
Published in Bioinformatics (01.01.2019)
Get full text
Journal Article
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Ewans, Lisa J., Schofield, Deborah, Shrestha, Rupendra, Zhu, Ying, Gayevskiy, Velimir, Ying, Kevin, Walsh, Corrina, Lee, Eric, Kirk, Edwin P, Colley, Alison, Ellaway, Carolyn, Turner, Anne, Mowat, David, Worgan, Lisa, Freckmann, Mary-Louise, Lipke, Michelle, Sachdev, Rani, Miller, David, Field, Michael, Dinger, Marcel E., Buckley, Michael F., Cowley, Mark J, Roscioli, Tony
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
Get full text
Journal Article
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Merlevede, Jane, Droin, Nathalie, Qin, Tingting, Meldi, Kristen, Yoshida, Kenichi, Morabito, Margot, Chautard, Emilie, Auboeuf, Didier, Fenaux, Pierre, Braun, Thorsten, Itzykson, Raphael, de Botton, Stéphane, Quesnel, Bruno, Commes, Thérèse, Jourdan, Eric, Vainchenker, William, Bernard, Olivier, Pata-Merci, Noemie, Solier, Stéphanie, Gayevskiy, Velimir, Dinger, Marcel E, Cowley, Mark J, Selimoglu-Buet, Dorothée, Meyer, Vincent, Artiguenave, François, Deleuze, Jean-François, Preudhomme, Claude, Stratton, Michael R, Alexandrov, Ludmil B, Padron, Eric, Ogawa, Seishi, Koscielny, Serge, Figueroa, Maria, Solary, Eric
Published in Nature communications (24.02.2016)
Published in Nature communications (24.02.2016)
Get full text
Journal Article
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma
Ziegler, David S, Wong, Marie, Mayoh, Chelsea, Kumar, Amit, Tsoli, Maria, Mould, Emily, Tyrrell, Vanessa, Khuong-Quang, Dong-Anh, Pinese, Mark, Gayevskiy, Velimir, Cohn, Richard J, Lau, Loretta M S, Reynolds, Mark, Cox, Michael C, Gifford, Andrew, Rodriguez, Michael, Cowley, Mark J, Ekert, Paul G, Marshall, Glenn M, Haber, Michelle
Published in British journal of cancer (01.09.2018)
Published in British journal of cancer (01.09.2018)
Get full text
Journal Article
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Thorburn, David R., Prelog, Kristina, Bahlo, Melanie, Sue, Carolyn M., Balasubramaniam, Shanti, Christodoulou, John
Published in Journal of inherited metabolic disease (01.03.2017)
Published in Journal of inherited metabolic disease (01.03.2017)
Get full text
Journal Article
Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer
Chou, Angela, Froio, Danielle, Nagrial, Adnan M, Parkin, Ashleigh, Murphy, Kendelle J, Chin, Venessa T, Wohl, Dalia, Steinmann, Angela, Stark, Rhys, Drury, Alison, Walters, Stacey N, Vennin, Claire, Burgess, Andrew, Pinese, Mark, Chantrill, Lorraine A, Cowley, Mark J, Molloy, Timothy J, Waddell, Nicola, Johns, Amber, Grimmond, Sean M, Chang, David K, Biankin, Andrew V, Sansom, Owen J, Morton, Jennifer P, Grey, Shane T, Cox, Thomas R, Turchini, John, Samra, Jaswinder, Clarke, Stephen J, Timpson, Paul, Gill, Anthony J, Pajic, Marina
Published in Gut (01.12.2018)
Published in Gut (01.12.2018)
Get full text
Journal Article
RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)
Rehn, Jacqueline, Mayoh, Chelsea, Heatley, Susan L, McClure, Barbara J, Eadie, Laura N, Schutz, Caitlin, Yeung, David T, Cowley, Mark J, Breen, James, White, Deborah L
Published in PLoS genetics (01.10.2022)
Published in PLoS genetics (01.10.2022)
Get full text
Journal Article
Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma
Mueller, Simon A., Gauthier, Marie-Emilie A., Ashford, Bruce, Gupta, Ruta, Gayevskiy, Velimir, Ch’ng, Sydney, Palme, Carsten E., Shannon, Kerwin, Clark, Jonathan R., Ranson, Marie, Cowley, Mark J.
Published in Journal of investigative dermatology (01.07.2019)
Published in Journal of investigative dermatology (01.07.2019)
Get full text
Journal Article
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Minoche, Andre E, Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U, Drew, Alexander P, Woo, Kerhan, Statham, Aaron L, Lundie, Ben, Bagnall, Richard D, Ingles, Jodie, Semsarian, Christopher, Seidman, J G, Seidman, Christine E, Dinger, Marcel E, Cowley, Mark J, Fatkin, Diane
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
Get full text
Journal Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Minoche, Andre E, Lundie, Ben, Peters, Greg B, Ohnesorg, Thomas, Pinese, Mark, Thomas, David M, Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E, Cowley, Mark J
Published in Genome medicine (25.02.2021)
Published in Genome medicine (25.02.2021)
Get full text
Journal Article
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
Pinese, Mark, Lacaze, Paul, Rath, Emma M, Stone, Andrew, Brion, Marie-Jo, Ameur, Adam, Nagpal, Sini, Puttick, Clare, Husson, Shane, Degrave, Dmitry, Cristina, Tina Navin, Kahl, Vivian F S, Statham, Aaron L, Woods, Robyn L, McNeil, John J, Riaz, Moeen, Barr, Margo, Nelson, Mark R, Reid, Christopher M, Murray, Anne M, Shah, Raj C, Wolfe, Rory, Atkins, Joshua R, Fitzsimmons, Chantel, Cairns, Heath M, Green, Melissa J, Carr, Vaughan J, Cowley, Mark J, Pickett, Hilda A, James, Paul A, Powell, Joseph E, Kaplan, Warren, Gibson, Greg, Gyllensten, Ulf, Cairns, Murray J, McNamara, Martin, Dinger, Marcel E, Thomas, David M
Published in Nature communications (23.01.2020)
Published in Nature communications (23.01.2020)
Get full text
Journal Article
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, Patricia J, Gayevskiy, Velimir, Davis, Ryan L, Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J, Beecroft, Sarah, Jackson, Matilda R, Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E, Scott, Hamish S, Oates, Emily, Pinese, Mark, Cowley, Mark J
Published in Genome Biology (17.05.2023)
Published in Genome Biology (17.05.2023)
Get full text
Journal Article
qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles
Song, Sarah, Nones, Katia, Miller, David, Harliwong, Ivon, Kassahn, Karin S, Pinese, Mark, Pajic, Marina, Gill, Anthony J, Johns, Amber L, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Qinying, Newell, Felicity, Cowley, Mark J, Wu, Jianmin, Wilson, Peter, Fink, Lynn, Biankin, Andrew V, Waddell, Nic, Grimmond, Sean M, Pearson, John V
Published in PloS one (25.09.2012)
Published in PloS one (25.09.2012)
Get full text
Journal Article
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome
Charchar, Fadi J, PhD, Bloomer, Lisa DS, MSc, Barnes, Timothy A, PhD, Cowley, Mark J, PhD, Nelson, Christopher P, PhD, Wang, Yanzhong, PhD, Denniff, Matthew, BSc, Debiec, Radoslaw, MD, Christofidou, Paraskevi, MSc, Nankervis, Scott, PhD, Dominiczak, Anna F, MD, Bani-Mustafa, Ahmed, PhD, Balmforth, Anthony J, MD, Hall, Alistair S, MD, Erdmann, Jeanette, PhD, Cambien, Francois, PhD, Deloukas, Panos, PhD, Hengstenberg, Christian, MD, Packard, Chris, MD, Schunkert, Heribert, MD, Ouwehand, Willem H, MD, Ford, Ian, PhD, Goodall, Alison H, PhD, Jobling, Mark A, PhD, Samani, Nilesh J, MD, Tomaszewski, Maciej, Dr
Published in The Lancet (British edition) (10.03.2012)
Published in The Lancet (British edition) (10.03.2012)
Get full text
Journal Article
Unusual PDGFRB fusion reveals novel mechanism of kinase activation in Ph-like B-ALL
Sadras, Teresa, Jalud, Fatimah B, Kosasih, Hansen J, Horne, Christopher R, Brown, Lauren M, El-Kamand, Sam, de Bock, Charles E, McAloney, Lachlan, Ng, Ashley P, Davidson, Nadia M, Ludlow, Louise E A, Oshlack, Alicia, Cowley, Mark J, Khaw, Seong L, Murphy, James M, Ekert, Paul G
Published in Leukemia (01.04.2023)
Published in Leukemia (01.04.2023)
Get full text
Journal Article
Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance
Fazakerley, Daniel J, Chaudhuri, Rima, Yang, Pengyi, Maghzal, Ghassan J, Thomas, Kristen C, Krycer, James R, Humphrey, Sean J, Parker, Benjamin L, Fisher-Wellman, Kelsey H, Meoli, Christopher C, Hoffman, Nolan J, Diskin, Ciana, Burchfield, James G, Cowley, Mark J, Kaplan, Warren, Modrusan, Zora, Kolumam, Ganesh, Yang, Jean Yh, Chen, Daniel L, Samocha-Bonet, Dorit, Greenfield, Jerry R, Hoehn, Kyle L, Stocker, Roland, James, David E
Published in eLife (06.02.2018)
Published in eLife (06.02.2018)
Get full text
Journal Article
Histomolecular Phenotypes and Outcome in Adenocarcinoma of the Ampulla of Vater
CHANG, David K, JAMIESON, Nigel B, NAGRIAL, Adnan M, CHANTRILL, Lorraine A, CHIN, Venessa T, PINHO, Andreia V, ROOMAN, Ilse, COWLEY, Mark J, JIANMIN WU, MEAD, R. Scott, COLVIN, Emily K, SAMRA, Jaswinder S, JOHNS, Amber L, CORBO, Vincenzo, BASSI, Claudio, FALCONI, Massimo, LAWLOR, Rita T, CRIPPA, Stefano, SPERANDIO, Nicola, BERSANI, Samantha, DICKSON, Euan J, MOHAMED, Mohamed A. A, OIEN, Karin A, SCARLETT, Christopher J, FOULIS, Alan K, MUSGROVE, Elizabeth A, SUTHERLAND, Robert L, KENCH, James G, CARTER, C. Ross, GILL, Anthony J, SCARPA, Aldo, MCKAY, Colin J, BIANKIN, Andrew V, PAJIC, Marina, CHOU, Angela, PINESE, Mark, HUMPHRIS, Jeremy L, JONES, Marc D, TOON, Christopher
Published in Journal of clinical oncology (01.04.2013)
Published in Journal of clinical oncology (01.04.2013)
Get full text
Journal Article
Somatic point mutation calling in low cellularity tumors
Kassahn, Karin S, Holmes, Oliver, Nones, Katia, Patch, Ann-Marie, Miller, David K, Christ, Angelika N, Harliwong, Ivon, Bruxner, Timothy J, Xu, Qinying, Anderson, Matthew, Wood, Scott, Leonard, Conrad, Taylor, Darrin, Newell, Felicity, Song, Sarah, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Steptoe, Anita, Pajic, Marina, Cowley, Mark J, Pinese, Mark, Chang, David K, Gill, Anthony J, Johns, Amber L, Wu, Jianmin, Wilson, Peter J, Fink, Lynn, Biankin, Andrew V, Waddell, Nicola, Grimmond, Sean M, Pearson, John V
Published in PloS one (08.11.2013)
Published in PloS one (08.11.2013)
Get full text
Journal Article
Molecular patterns in salivary duct carcinoma identify prognostic subgroups
Mueller, Simon A, Gauthier, Marie-Emilie A, Blackburn, James, Grady, John P, Kraitsek, Spiridoula, Hajdu, Elektra, Dettmer, Matthias S, Dahlstrom, Jane E, Lee, C Soon, Luk, Peter P, Yu, Bing, Giger, Roland, Kummerfeld, Sarah, Clark, Jonathan R, Gupta, Ruta, Cowley, Mark J
Published in Modern pathology (01.10.2020)
Published in Modern pathology (01.10.2020)
Get full text
Journal Article