An integrated transcriptional analysis of the developing human retina
Mellough, Carla B, Bauer, Roman, Collin, Joseph, Dorgau, Birthe, Zerti, Darin, Dolan, David W P, Jones, Carl M, Izuogu, Osagie G, Yu, Min, Hallam, Dean, Steyn, Jannetta S, White, Kathryn, Steel, David H, Santibanez-Koref, Mauro, Elliott, David J, Jackson, Michael S, Lindsay, Susan, Grellscheid, Sushma, Lako, Majlinda
Published in Development (Cambridge) (15.01.2019)
Published in Development (Cambridge) (15.01.2019)
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Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular
Izuogu, Osagie G, Alhasan, Abd A, Mellough, Carla, Collin, Joseph, Gallon, Richard, Hyslop, Jonathon, Mastrorosa, Francesco K, Ehrmann, Ingrid, Lako, Majlinda, Elliott, David J, Santibanez-Koref, Mauro, Jackson, Michael S
Published in BMC genomics (20.04.2018)
Published in BMC genomics (20.04.2018)
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Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors
Rasmussen, Maria, Sowter, Peter, Gallon, Richard, Durhuus, Jon Ambæk, Hayes, Christine, Andersen, Ove, Nilbert, Mef, Schejbel, Lone, Høgdall, Estrid, Santibanez-Koref, Mauro, Jackson, Michael S, Burn, John, Therkildsen, Christina
Published in Frontiers in oncology (2023)
Published in Frontiers in oncology (2023)
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A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours
Redford, Lisa, Alhilal, Ghanim, Needham, Stephanie, O'Brien, Ottie, Coaker, Julie, Tyson, John, Amorim, Leonardo Maldaner, Middleton, Iona, Izuogu, Osagi, Arends, Mark, Oniscu, Anca, Alonso, Ángel Miguel, Laguna, Sira Moreno, Gallon, Richard, Sheth, Harsh, Santibanez-Koref, Mauro, Jackson, Michael S, Burn, John
Published in PloS one (29.08.2018)
Published in PloS one (29.08.2018)
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Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development
Grellscheid, Sushma, Dalgliesh, Caroline, Storbeck, Markus, Best, Andrew, Liu, Yilei, Jakubik, Miriam, Mende, Ylva, Ehrmann, Ingrid, Curk, Tomaz, Rossbach, Kristina, Bourgeois, Cyril F, Stévenin, James, Grellscheid, David, Jackson, Michael S, Wirth, Brunhilde, Elliott, David J
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression
Whittle, Benjamin J., Izuogu, Osagie G., Lowes, Hannah, Deen, Dasha, Pyle, Angela, Coxhead, Jon, Lawson, Rachael A., Yarnall, Alison J., Jackson, Michael S., Santibanez-Koref, Mauro, Hudson, Gavin
Published in NPJ Parkinson's Disease (20.01.2024)
Published in NPJ Parkinson's Disease (20.01.2024)
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A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening
Gallon, Richard, Herrero-Belmonte, Patricia, Phelps, Rachel, Hayes, Christine, Sollars, Elizabeth, Egan, Daniel, Spiewak, Helena, Nalty, Sam, Mills, Sarah, Loo, Peh Sun, Borthwick, Gillian M, Santibanez-Koref, Mauro, Burn, John, McAnulty, Ciaron, Jackson, Michael S
Published in BJC Reports (01.01.2024)
Published in BJC Reports (01.01.2024)
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Journal Article
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
Venables, Julian P, Strain, Lisa, Routledge, Danny, Bourn, David, Powell, Helen M, Warwicker, Paul, Diaz-Torres, Martha L, Sampson, Anne, Mead, Paul, Webb, Michelle, Pirson, Yves, Jackson, Michael S, Hughes, Anne, Wood, Katrina M, Goodship, Judith A, Goodship, Timothy H J
Published in PLoS medicine (01.10.2006)
Published in PLoS medicine (01.10.2006)
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Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations
Sheth, Harsh, Northwood, Emma, Ulrich, Cornelia M, Scherer, Dominique, Elliott, Faye, Barrett, Jennifer H, Forman, David, Wolf, C Roland, Smith, Gillian, Jackson, Michael S, Santibanez-Koref, Mauro, Haile, Robert, Casey, Graham, Jenkins, Mark, Win, Aung Ko, Hopper, John L, Marchand, Loic Le, Lindor, Noralane M, Thibodeau, Stephen N, Potter, John D, Burn, John, Bishop, D Timothy
Published in PloS one (09.02.2018)
Published in PloS one (09.02.2018)
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Journal Article
Circular RNA enrichment in platelets is a signature of transcriptome degradation
Alhasan, Abd A., Izuogu, Osagie G., Al-Balool, Haya H., Steyn, Jannetta S., Evans, Amanda, Colzani, Maria, Ghevaert, Cedric, Mountford, Joanne C., Marenah, Lamin, Elliott, David J., Santibanez-Koref, Mauro, Jackson, Michael S.
Published in Blood (03.03.2016)
Published in Blood (03.03.2016)
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Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
Ventura, Mario, Mudge, Jonathan M, Palumbo, Valeria, Burn, Sally, Blennow, Elisabeth, Pierluigi, Mauro, Giorda, Roberto, Zuffardi, Orsetta, Archidiacono, Nicoletta, Jackson, Michael S, Rocchi, Mariano
Published in Genome research (01.09.2003)
Published in Genome research (01.09.2003)
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Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision
Vromman, Marieke, Anckaert, Jasper, Bortoluzzi, Stefania, Buratin, Alessia, Chen, Chia-Ying, Chu, Qinjie, Chuang, Trees-Juen, Dehghannasiri, Roozbeh, Dieterich, Christoph, Dong, Xin, Flicek, Paul, Gaffo, Enrico, Gu, Wanjun, He, Chunjiang, Hoffmann, Steve, Izuogu, Osagie, Jackson, Michael S., Jakobi, Tobias, Lai, Eric C., Nuytens, Justine, Salzman, Julia, Santibanez-Koref, Mauro, Stadler, Peter, Thas, Olivier, Vanden Eynde, Eveline, Verniers, Kimberly, Wen, Guoxia, Westholm, Jakub, Yang, Li, Ye, Chu-Yu, Yigit, Nurten, Yuan, Guo-Hua, Zhang, Jinyang, Zhao, Fangqing, Vandesompele, Jo, Volders, Pieter-Jan
Published in Nature methods (01.08.2023)
Published in Nature methods (01.08.2023)
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Journal Article
Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours’
Sowter, Peter, Santibanez‐Koref, Mauro, Jackson, Michael S., Borthwick, Gillian M., Burn, John, Rajan, Neil, Gallon, Richard
Published in British journal of dermatology (1951) (01.05.2022)
Published in British journal of dermatology (1951) (01.05.2022)
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PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events
Izuogu, Osagie G, Alhasan, Abd A, Alafghani, Hani M, Santibanez-Koref, Mauro, Elliott, David J, Elliot, David J, Jackson, Michael S
Published in BMC bioinformatics (13.01.2016)
Published in BMC bioinformatics (13.01.2016)
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Journal Article
How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies
Gallon, Richard, Gawthorpe, Peter, Phelps, Rachel L, Hayes, Christine, Borthwick, Gillian M, Santibanez-Koref, Mauro, Jackson, Michael S, Burn, John
Published in Cancers (22.01.2021)
Published in Cancers (22.01.2021)
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Journal Article
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2023)
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Comprehensive Genetic and Histopathologic Study Reveals Three Types of Neuroblastoma Tumors
TASTOWSKA, Maria, CULLINANE, Catherine, PEARSON, Andrew D. J, JACKSON, Michael S, VARIEND, Sadick, COTTERILL, Simon, BOWN, Nick, O'NEILL, Seamus, MAZZOCCO, Katia, ROBERTS, Paul, NICHOLSON, James, ELLERSHAW, Caroline
Published in Journal of clinical oncology (15.06.2001)
Published in Journal of clinical oncology (15.06.2001)
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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Perez-Valencia, Juan A., Gallon, Richard, Chen, Yunjia, Koch, Jakob, Keller, Markus, Oberhuber, Klaus, Gomes, Alicia, Zschocke, Johannes, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro, Messiaen, Ludwine, Wimmer, Katharina
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Journal Article
Evidence for Widespread Reticulate Evolution within Human Duplicons
Jackson, Michael S., Oliver, Karen, Loveland, Jane, Humphray, Sean, Dunham, Ian, Rocchi, Mariano, Viggiano, Luigi, Park, Jonathan P., Hurles, Matthew E., Santibanez-Koref, Mauro
Published in American journal of human genetics (01.11.2005)
Published in American journal of human genetics (01.11.2005)
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Journal Article
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia
Gallon, Richard, Phelps, Rachel, Betts, Leigh, Hayes, Christine, Masic, Dino, Irving, Julie A. E., McAnulty, Ciaron, Saha, Vaskar, Vora, Ajay, Wimmer, Katharina, Motwani, Jayashree, Macartney, Christine, Burn, John, Jackson, Michael S., Moorman, Anthony V., Santibanez-Koref, Mauro
Published in Leukemia & lymphoma (02.01.2023)
Published in Leukemia & lymphoma (02.01.2023)
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