An integrated transcriptional analysis of the developing human retina von 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

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Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular von 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

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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 profi... von 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

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Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors von 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

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Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development von 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

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Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression von 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

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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene von 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

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A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening von 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

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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 von 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

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Circular RNA enrichment in platelets is a signature of transcriptome degradation von 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.

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Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision von 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

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Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25 von Ventura, Mario, Mudge, Jonathan M, Palumbo, Valeria, Burn, Sally, Blennow, Elisabeth, Pierluigi, Mauro, Giorda, Roberto, Zuffardi, Orsetta, Archidiacono, Nicoletta, Jackson, Michael S, Rocchi, Mariano

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Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours’ von Sowter, Peter, Santibanez‐Koref, Mauro, Jackson, Michael S., Borthwick, Gillian M., Burn, John, Rajan, Neil, Gallon, Richard

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PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events von Izuogu, Osagie G, Alhasan, Abd A, Alafghani, Hani M, Santibanez-Koref, Mauro, Elliott, David J, Elliot, David J, Jackson, Michael S

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How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies von Gallon, Richard, Gawthorpe, Peter, Phelps, Rachel L, Hayes, Christine, Borthwick, Gillian M, Santibanez-Koref, Mauro, Jackson, Michael S, Burn, John

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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency von 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

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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 von 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

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Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics von Gallon, Richard, Sheth, Harsh, Hayes, Christine, Redford, Lisa, Alhilal, Ghanim, O'Brien, Ottilia, Spiewak, Helena, Waltham, Amanda, McAnulty, Ciaron, Izuogu, Osagie G., Arends, Mark J., Oniscu, Anca, Alonso, Angel M., Laguna, Sira M., Borthwick, Gillian M., Santibanez‐Koref, Mauro, Jackson, Michael S., Burn, John

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Is HLA type a possible cancer risk modifier in Lynch syndrome? von Ahadova, Aysel, Witt, Johannes, Haupt, Saskia, Gallon, Richard, Hüneburg, Robert, Nattermann, Jacob, Broeke, Sanne, Bohaumilitzky, Lena, Hernandez‐Sanchez, Alejandro, Santibanez‐Koref, Mauro, Jackson, Michael S., Ahtiainen, Maarit, Pylvänäinen, Kirsi, Andini, Katarina, Grolmusz, Vince Kornel, Möslein, Gabriela, Dominguez‐Valentin, Mev, Møller, Pål, Fürst, Daniel, Sijmons, Rolf, Borthwick, Gillian M., Burn, John, Mecklin, Jukka‐Pekka, Heuveline, Vincent, Knebel Doeberitz, Magnus, Seppälä, Toni, Kloor, Matthias

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Comprehensive Genetic and Histopathologic Study Reveals Three Types of Neuroblastoma Tumors von 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

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