Seave: a comprehensive web platform for storing and interrogating human genomic variation

por Gayevskiy, Velimir, Roscioli, Tony, Dinger, Marcel E, Cowley, Mark J
Publicado 2019

Evaluation of the NOD/SCID xenograft model for glucocorticoid-regulated gene expression in childhood B-cell precursor acute lymphoblastic leukemia

por Bhadri, Vivek A, Cowley, Mark J, Kaplan, Warren, Trahair, Toby N, Lock, Richard B
Publicado 2011

Unscrambling cancer genomes via integrated analysis of structural variation and copy number

por Shale, Charles, Cameron, Daniel L., Baber, Jonathan, Wong, Marie, Cowley, Mark J., Papenfuss, Anthony T., Cuppen, Edwin, Priestley, Peter
Publicado 2022

A Sustained Dietary Change Increases Epigenetic Variation in Isogenic Mice

por Li, Cheryl C. Y., Cropley, Jennifer E., Cowley, Mark J., Preiss, Thomas, Martin, David I. K., Suter, Catherine M.
Publicado 2011

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound...

por Rudaks, Laura I., Watson, Eloise, Oboudiyat, Carly, Kumar, Kishore R., Sullivan, Patricia, Cowley, Mark J., Davis, Ryan L., Sue, Carolyn M.
Publicado 2022

PINA v2.0: mining interactome modules

por Cowley, Mark J., Pinese, Mark, Kassahn, Karin S., Waddell, Nic, Pearson, John V., Grimmond, Sean M., Biankin, Andrew V., Hautaniemi, Sampsa, Wu, Jianmin
Publicado 2012

Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression

por Zeraati, Mahdi, Moye, Aaron L., Wong, Jason W. H., Perera, Dilmi, Cowley, Mark J., Christ, Daniel U., Bryan, Tracy M., Dinger, Marcel E.
Publicado 2017

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)

por 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
Publicado 2022

Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

por Hort, Yvonne, Sullivan, Patricia, Wedd, Laura, Fowles, Lindsay, Stevanovski, Igor, Deveson, Ira, Simons, Cas, Mallett, Andrew, Patel, Chirag, Furlong, Timothy, Cowley, Mark J., Shine, John, Mallawaarachchi, Amali
Publicado 2023

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

por Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Publicado 2021

Intra- and inter-individual genetic differences in gene expression

por Cowley, Mark J., Cotsapas, Chris J., Williams, Rohan B. H., Chan, Eva K. F., Pulvers, Jeremy N., Liu, Michael Y., Luo, Oscar J., Nott, David J., Little, Peter F. R.
Publicado 2009

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

por Kumar, Kishore R, Wali, G.M., Kamate, Mahesh, Wali, Gautam, Minoche, André E, Puttick, Clare, Pinese, Mark, Gayevskiy, Velimir, Dinger, Marcel E, Roscioli, Tony, Sue, Carolyn M., Cowley, Mark J
Publicado 2016

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

por 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.
Publicado 2021

RON is not a prognostic marker for resectable pancreatic cancer

por Tactacan, Carole M, Chang, David K, Cowley, Mark J, Humphrey, Emily S, Wu, Jianmin, Gill, Anthony J, Chou, Angela, Nones, Katia, Grimmond, Sean M, Sutherland, Robert L, Biankin, Andrew V, Daly, Roger J
Publicado 2012

Glutamine addiction promotes glucose oxidation in triple-negative breast cancer

por Quek, Lake-Ee, van Geldermalsen, Michelle, Guan, Yi Fang, Wahi, Kanu, Mayoh, Chelsea, Balaban, Seher, Pang, Angel, Wang, Qian, Cowley, Mark J., Brown, Kristin K., Turner, Nigel, Hoy, Andrew J., Holst, Jeff
Publicado 2022

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

por Kumar, Kishore R., Wali, Gautam, Davis, Ryan L., Mallawaarachchi, Amali C., Palmer, Elizabeth E., Gayevskiy, Velimir, Minoche, Andre E., Veivers, David, Dinger, Marcel E., Mackay-Sim, Alan, Cowley, Mark J., Sue, Carolyn M.
Publicado 2018

Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor

por Nagabushan, Sumanth, Lau, Loretta M. S., Barahona, Paulette, Wong, Marie, Sherstyuk, Alexandra, Marshall, Glenn M., Tyrrell, Vanessa, Wegner, Eva A., Ekert, Paul G., Cowley, Mark J., Mayoh, Chelsea, Trahair, Toby N., Crowe, Philip, Anazodo, Antoinette, Ziegler, David S.
Publicado 2021

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

por Cowley, Mark J, Liu, Yu‐Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo, Melanie, Scheffer, Ingrid E., Dinger, Marcel E., Roscioli, Tony
Publicado 2019

Maternal obesity and diabetes induces latent metabolic defects and widespread epigenetic changes in isogenic mice

por Li, Cheryl C.Y., Young, Paul E., Maloney, Christopher A., Eaton, Sally A., Cowley, Mark J., Buckland, Michael E, Preiss, Thomas, Henstridge, Darren C., Cooney, Gregory J., Febbraio, Mark A., Martin, David I.K., Cropley, Jennifer E., Suter, Catherine M.
Publicado 2013

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

por Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Publicado 2022