Browse by Current Cardiff authors

Lovatt, Charlotte, Williams, Megan, Gibbs, Alex, Mukhtar, Abdullahi, Morgan, Huw J., Lanfredini, Simone ORCID: https://orcid.org/0000-0002-3160-5120, Olivero, Carlotta ORCID: https://orcid.org/0000-0002-8961-6703, Spurlock, Gill, Davies, Sally, Philpott, Charlotte, Tovell, Hannah, Turnpenny, Peter, Baban, Dilair, Knight, Sam, Brems, Hilde, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Legius, Eric, Upadhyaya, Meena and Patel, Girish K. 2024. Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules. Skin Health and Disease 4 (5) , e394. 10.1002/ski2.394

Meuser, Elena, Chang, Kyle, Walters, Angharad, Hurley, Joanna J., West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Perry, Iain, Mort, Matthew, Reyes-Uribe, Laura, Truscott, Rebekah, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Vilar, Eduardo and Thomas, Laura E. 2024. PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis. Molecular Cancer Research 22 (6) , 515–523. 10.1158/1541-7786.MCR-23-0810

Zaffaroni, Gloria, Mannucci, Alessandro, Koskenvuo, Laura, de Lacy, Borja, Maffioli, Anna, Bisseling, Tanya, Half, Elizabeth, Cavestro, Giulia Martina, Valle, Laura, Ryan, Neil, Aretz, Stefan, Brown, Karen, Buttitta, Francesco, Carneiro, Fatima, Claber, Oonagh, Blanco-Colino, Ruth, Collard, Maxime, Crosbie, Emma, Cunha, Miguel, Doulias, Triantafyllos, Fleming, Christina, Heinrich, Henriette, Hüneburg, Robert, Metras, Julie, Nagtegaal, Iris, Negoi, Ionut, Nielsen, Maartje, Pellino, Gianluca, Ricciardiello, Luigi, Sagir, Abdurrahman, Sánchez-Guillén, Luis, Seppälä, Toni T., Siersema, Peter, Striebeck, Benedikt, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Latchford, Andrew, Parc, Yann, Burn, John and Möslein, Gabriela 2024. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. British Journal of Surgery 111 (5) , znae070. 10.1093/bjs/znae070

Møller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind and Dominguez-Valentin, Mev 2024. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes. Hereditary Cancer in Clinical Practice 22 , 6. 10.1186/s13053-024-00279-3

Møller, Pal, Seppälä, Toni T., Ahadova, Aysel, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Broeke, Sanne W. Bajwa-ten, Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. Gareth, Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Monahan, Kevin, Engel, Christoph, Cavestro, Giulia Martina, Fruscio, Robert, Abu-Freha, Naim, Zohar, Levi, Laghi, Luigi, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Vaccaro, Carlos, Valle, Adriana Della, Rossi, Benedito Mauro, da Silva, Leandro Apolinário, de Oliveira Nascimento, Ivana Lucia, Rossi, Norma Teresa, Dębniak, Tadeusz, Mecklin, Jukka-Pekka, Bernstein, Inge, Lindblom, Annika, Sunde, Lone, Nakken, Sigve, Heuveline, Vincent, Burn, John, Hovig, Eivind, Kloor, Matthias, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Dominguez-Valentin, Mev 2023. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice 21 (1) , 19. 10.1186/s13053-023-00263-3

West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Nellist, Mark, Brouwer, Rutger W. W., van den Hout-van Vroonhoven, Mirjam C. G. N., de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Alfano, Rosa M., Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S., Northrup, Hope, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, van IJcken, Wilfred F. J. and Chen, Jian-Min 2023. Targeted genomic sequencing of TSC1 and TSC2 reveals causal variants in individuals for whom previous genetic testing for tuberous sclerosis complex was normal. Human Mutation: Variation, Informatics and Disease 2023 , 4899372. 10.1155/2023/4899372

Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire and Tomlinson, Ian 2023. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair. Nature Communications 14 , 3636. 10.1038/s41467-023-39248-0

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Debniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela and Moller, Pål 2023. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine 58 , 101909. 10.1016/j.eclinm.2023.101909

Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Jenkins, Mark A., European Hereditary Tumour Group and International Mismatch Repair Consortium 2022. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary Cancer in Clinical Practice 20 , 36. 10.1186/s13053-022-00241-1

Robinson, Philip S., Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura ORCID: https://orcid.org/0000-0003-2753-1883, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Stratton, Michael R. 2022. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nature Communications 13 (1) , 3949. 10.1038/s41467-022-31341-0

Palles, Claire, West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Chew, Edward, Galavotti, Sara, Flensburg, Christoffer, Grolleman, Judith E., Jansen, Erik A.M., Curley, Helen, Chegwidden, Laura, Arbe-Barnes, Edward H., Lander, Nicola, Truscott, Rebekah, Pagan, Judith, Bajel, Ashish, Sherwood, Kitty, Martin, Lynn, Thomas, Huw, Georgiou, Demetra, Fostira, Florentia, Goldberg, Yael, Adams, David J., van der Biezen, Simone A.M., Christie, Michael, Clendenning, Mark, Thomas, Laura E., Deltas, Constantinos, Dimovski, Aleksandar J., Dymerska, Dagmara, Lubinski, Jan, Mahmood, Khalid, van der Post, Rachel S., Sanders, Mathijs, Weitz, Jürgen, Taylor, Jenny C., Turnbull, Clare, Vreede, Lilian, van Wezel, Tom, Whalley, Celina, Arnedo-Pac, Claudia, Caravagna, Giulio, Cross, William, Chubb, Daniel, Frangou, Anna, Gruber, Andreas J., Kinnersley, Ben, Noyvert, Boris, Church, David, Graham, Trevor, Houlston, Richard, Lopez-Bigas, Nuria, Sottoriva, Andrea, Wedge, David, Jenkins, Mark A., Kuiper, Roland P., Roberts, Andrew W., Cheadle, Jeremy P., Ligtenberg, Marjolijn J.L., Hoogerbrugge, Nicoline, Koelzer, Viktor H., Rivas, Andres Dacal, Winship, Ingrid M., Ponte, Clara Ruiz, Buchanan, Daniel D., Power, Derek G., Green, Andrew, Tomlinson, Ian P.M., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Majewski, Ian J. and de Voer, Richarda M. 2022. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American Journal of Human Genetics 109 (5) , pp. 953-960. 10.1016/j.ajhg.2022.03.018

Dominguez-Valentin, Mev, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Seppälä, Toni T. and Møller, Pål 2022. Response to Chambuso et al. Genetics in Medicine 24 (5) , 1151. 10.1016/j.gim.2022.01.005

Ragoussis, Vassilis, Pagnamenta, Alistair T., Haines, Rebecca L., Giacopuzzi, Edoardo, McClatchey, Martin A., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Genomics England Research Consortium and Taylor, Jenny C. 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59 (4) , pp. 366-369. 10.1136/jmedgenet-2020-107528

Northrup, Hope, Aronow, Mary E., Bebin, E. Martina, Bissler, John, Darling, Thomas N., de Vries, Petrus J., Frost, Michael D., Fuchs, Zoë, Gosnell, Elizabeth S., Gupta, Nishant, Jansen, Anna C., Jówiak, Sergiusz, Kingswood, J. Chris, Knilans, Timothy K., McCormack, Francis X., Pounders, Ashley, Roberds, Steven L., Rodriguez-Buritica, David F., Roth, Jonathan, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Sparagana, Steven, Thiele, Elizabeth Anne, Weiner, Howard L., Wheless, James W., Towbin, Alexander J., Krueger, Darcy A., Annear, Nicholas M.P., Aronow, Mary E., Bartels, Ute, Bebin, E. Martina, Berhouma, Moncef, Bissler, John J., Budde, Klemens, Byars, Anna, Chugani, Harry, Cowen, Edward W., Crino, Peter B., Curatolo, Paolo, Darling, Thomas N., de Vries, Petrus, Dilling, Daniel F., Dunn, David W., Ekong, Rosmary, Ess, Kevin C., Franz, David N., Frost, Michael, Fuchs, Zoë D.B., Gosnell, Elizabeth, Guay-Woodford, Lisa, Gupta, Nishant, Haddad, Luciana, Halbert, Anne, Hebert, Adelaide A., Henske, Elizabeth P., Holmes, Gregory L., Hook, Dena, Hulbert, John, Jansen, Anna, Johnson, Simon R., Jówiak, Sergiusz, King, Bryan, Kingswood, J. Christopher, Knilans, Timothy K., Koenig, Mary Kay, Korf, Bruce, Krueger, Darcy A., Kwiatkowski, David J., McCormack, Francis X., Moss, Joel, Mowat, David, Mowrey, Kate, Nabbout, Rima, Nellist, Mark D., Northrup, Hope, O'Callaghan, Finbar, Patel, Uday, Pounders, Ashley, Roach, E. Steve, Roberds, Steven L., Rodriguez-Buritica, David, Romp, Robb, Roth, Jonathan, Rozenberg, Micaela, Ruoss, Stephen J., Sahin, Mustafa, Sampson, Julian, Samuels, Joshua A., Sauter, Matthias, Smith, Catherine A., Soltani, Keyomaurs, Sparagana, Steven, Srivastava, Shoba, Stuart, Clare, Teng, Joyce M.C., Thiele, Elizabeth A., Towbin, Alexander J., Trout, Andrew, van Eeghen, Agnies, Vanclooster, Stephanie, Wang, Henry Z., Wataya-Kaneda, Mari, Weiner, Howard L., Wheless, James W., Witman, Patricia, Wright, Tim, Wu, Joyce Y. and Young, Lisa 2021. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatric Neurology 123 , pp. 50-66. 10.1016/j.pediatrneurol.2021.07.011

Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Pavicic, Walter Hernán, Kalfayan, Pablo, Broeke, Sanne W. ten, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Marchand, Loïc Le, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T. and Møller, Pål 2021. No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: a prospective Lynch syndrome database study. Journal of Clinical Medicine 10 (13) , 2856. 10.3390/jcm10132856

Seppälä, T. T., Latchford, A., Negoi, I., Sampaio Soares, A., Jimenez-Rodriguez, R., Sánchez-Guillén, L., Evans, D. G., Ryan, N., Crosbie, E. J., Dominguez-Valentin, M., Burn, J., Kloor, M., von Knebel Doeberitz, M., van Duijnhoven, F. J. B., Quirke, P., Sampson, J. R. ORCID: https://orcid.org/0000-0002-2902-2348, Møller, P. and Möslein, G. 2021. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. British Journal of Surgery 108 (5) , pp. 484-498. 10.1002/bjs.11902

Seppälä, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Cavestro, Giulia M., Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vida, Joan B., Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter, Kalfayan, Pablo, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L., Win, Aung K., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Wadt, Karin A.W., Mourits, Marian J.E., Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar A., Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Evans, D.G. and Møller, Pål 2021. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. European Journal of Cancer 148 , pp. 124-133. 10.1016/j.ejca.2021.02.022

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Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O'Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C. and Hurles, Matthew E. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542 , pp. 433-438. 10.1038/nature21062

Møller, Pål, Seppälä, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M., Plazzer, John-Paul, Pylvanainen, Kirsi, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Capella, Gabriel, Mecklin, Jukka-Pekka and Möslein, Gabriela 2017. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66 (3) , pp. 464-472. 10.1136/gutjnl-2015-309675

Yang, Jian ORCID: https://orcid.org/0000-0003-2631-4553, Samsel, Paulina A., Narov, Kalin, Jones, Ashley, Gallacher, Daniel, Gallacher, John, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Shen, Ming Hong ORCID: https://orcid.org/0000-0002-3891-7231 2017. Combination of everolimus with sorafenib for solid renal tumours in Tsc2+/- mice is superior to everolimus alone. Neoplasia 19 (2) , pp. 112-120. 10.1016/j.neo.2016.12.008

Kingswood, Christopher, Bolton, Patrick, Crawford, Pamela, Harland, Christopher, Johnson, Simon R., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Shepherd, Charles, Spink, Jayne, Demuth, Dirk, Lucchese, Lara, Nasuti, Paola, Gray, Elizabeth, Pinnegar, Alun and Magestro, Matthew 2016. The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD). European Journal of Paediatric Neurology 20 (2) , pp. 296-308. 10.1016/j.ejpn.2015.11.011

Kingswood, J. Chris, Bissler, John J., Budde, Klemens, Hulbert, John, Guay-Woodford, Lisa, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Sauter, Matthias, Cox, Jane, Patel, Uday, Elmslie, Frances, Anderson, Chris and Zonnenberg, Bernard A. 2016. Review of the tuberous sclerosis renal guidelines from the 2012 consensus conference: current data and future study. Nephron Clinical Practice 134 (2) , pp. 51-58. 10.1159/000448293

Randell, Elizabeth ORCID: https://orcid.org/0000-0002-1606-3175, McNamara, Rachel ORCID: https://orcid.org/0000-0002-7280-1611, Davies, D. Mark, Owen-Jones, Catrin ORCID: https://orcid.org/0000-0003-0850-4724, Kirby, Nigel, Angel, Lianna, Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252, Cannings-John, Rebecca ORCID: https://orcid.org/0000-0001-5235-6517, Smalley, Michelle, Saxena, Anurag, McDermott, Emer, Stockwell, Laura, de Vries, Petrus J., Hood, Kerenza ORCID: https://orcid.org/0000-0002-5268-8631 and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 2016. The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial. Trials 17 , 398. 10.1186/s13063-016-1446-6

Kingswood, John C., Crawford, Pamela, Johnson, Simon R., Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Shepherd, Charles, Demuth, Dirk, Erhard, Clement, Nasuti, Paola, Patel, Keyur, Myland, Melissa, Pinnegar, Alun, Magestro, Matthew and Gray, Elizabeth 2016. The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink. Journal of Medical Economics 19 (11) , pp. 1087-1098. 10.1080/13696998.2016.1199432

Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roncaroli, Federico and Korbonits, Márta 2016. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathologica Communications 4 , 56. 10.1186/s40478-016-0328-1

Henske, Elizabeth P., Jóźwiak, Sergiusz, Kingswood, J. Christopher, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Thiele, Elizabeth A. 2016. Tuberous sclerosis complex. Nature Reviews Disease Primers 2 , 16035. 10.1038/nrdp.2016.35

Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Ellard, Sian and Korbonits, Márta 2016. Somatic GPR101 duplication causing X-Linked acrogigantism (XLAG)- diagnosis and management. Journal of Clinical Endocrinology & Metabolism 101 (5) , pp. 1927-1930. 10.1210/jc.2015-4366

Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Pal, Deb K. and Bateman, Joseph M. 2016. The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex. Seminars in Cell and Developmental Biology 52 , pp. 12-20. 10.1016/j.semcdb.2016.01.040

Rashid, Mamunur, Fischer, Andrej, Wilson, Cathy H., Tiffen, Jessamy, Rust, Alistair G., Stevens, Philip, Idziaszczyk, Shelley, Maynard, Julie, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Mustonen, Ville, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Adams, David J. 2016. Adenoma development in familial adenomatous polyposis andMUTYH-associated polyposis: somatic landscape and driver genes. Journal of Pathology 238 (1) , pp. 98-108. 10.1002/path.4643

Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52 , pp. 791-796. 10.1136/jmedgenet-2015-103298

Wong, Ho Tin, McCartney, DeborahL., Lewis, Julia C., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Howe, Christopher J and de Vries, Petrus J 2015. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Journal of Medical Genetics 52 (12) , pp. 815-822. 10.1136/jmedgenet-2015-103154

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Saxena, Anurag 2015. Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Seminars in Neurology 35 (03) , pp. 269-276. 10.1055/s-0035-1552616

Dodd, K. M., Yang, J. ORCID: https://orcid.org/0000-0003-2631-4553, Shen, M. H. ORCID: https://orcid.org/0000-0002-3891-7231, Sampson, J. R. ORCID: https://orcid.org/0000-0002-2902-2348 and Tee, A. R. ORCID: https://orcid.org/0000-0002-5577-4631 2015. mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3. Oncogene 34 (17) , pp. 2239-2250. 10.1038/onc.2014.164

Kwiatkowski, David J, Palmer, Michael R, Jozwiak, Sergiusz, Bissler, John, Franz, David, Segal, Scott, Chen, David and Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348 2015. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. European Journal of Human Genetics 23 (12) , pp. 1665-1672. 10.1038/ejhg.2015.47

Yang, J. ORCID: https://orcid.org/0000-0003-2631-4553, Kalogerou, M., Samsel, P. A., Zhang, Y., Griffiths, D. F. R., Gallacher, J. ORCID: https://orcid.org/0000-0002-2394-5299, Sampson, J. R. ORCID: https://orcid.org/0000-0002-2902-2348 and Shen, M. H. ORCID: https://orcid.org/0000-0002-3891-7231 2015. Renal tumours in a Tsc2+/- mouse model do not show feedback inhibition of Akt and are effectively prevented by rapamycin. Oncogene 34 , pp. 922-931. 10.1038/onc.2014.17

Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Chinnery, P., Care4Rare, Canada, Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M. and Koenekoop, R. K. 2015. Mutations in ​PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications 6 , 5614. 10.1038/ncomms6614

Saxena, Anurag and Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348 2014. Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components. Seminars in Cell and Developmental Biology 36 , pp. 140-146. 10.1016/j.semcdb.2014.09.018

Johnson, Charlotte ORCID: https://orcid.org/0000-0003-1954-5142, Hunt, David K., Wiltshire, Marie, Herbert, Terry P., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Errington, Rachel J. ORCID: https://orcid.org/0000-0002-8016-4376, Davies, David Mark and Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631 2014. Endoplasmic reticulum stress and cell death in mTORC1-overactive cells is induced by nelfinavir and enhanced by chloroquine. Molecular Oncology 9 (3) , pp. 675-688. 10.1016/j.molonc.2014.11.005

Siroky, B. J., Yin, H., Dixon, B. P., Reichert, R. J., Hellmann, A. R., Ramkumar, T., Tsuchihashi, Z., Bunni, M., Dillon, J., Bell, P. D., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Bissler, J. J. 2014. Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. American Journal of Physiology-Renal Physiology 307 (5) , F560-F570. 10.1152/ajprenal.00569.2013

Maughan, T.S., Meade, A.M., Adams, R. A. ORCID: https://orcid.org/0000-0003-3915-7243, Richman, S.D., Butler, R., Fisher, D., Wilson, R.H., Jasani, B., Taylor, G.R., Williams, G. ORCID: https://orcid.org/0000-0003-3768-9940, Sampson, J. ORCID: https://orcid.org/0000-0002-2902-2348, Seymour, M.T., Nichols, L.L., Kenny, S.L., Nelson, A. ORCID: https://orcid.org/0000-0002-6075-8425, Sampson, C. ORCID: https://orcid.org/0000-0002-5626-9936, Hodgkinson, E., Bridgewater, J.A., Furniss, D.L., Roy, R., Pope, M.J., Pope, J.K., Parmar, M., Quirke, P. and Kaplan, R. 2014. A feasibility study testing four hypotheses with phase II outcomes in advanced colorectal cancer (MRC FOCUS3): A model for randomised controlled trials in the era of personalised medicine? British Journal of Cancer 110 , pp. 2178-2186. 10.1038/bjc.2014.182

Roger, Laureline, Jones, Rhiannon E., Heppel, Nicole, Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Baird, Duncan Martin ORCID: https://orcid.org/0000-0001-8408-5467 2013. Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability. Journal of the National Cancer Institute 105 (16) , pp. 1202-1211. 10.1093/jnci/djt191

Vasen, Hans F. A., Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P., Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian Martin, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J., Hodgson, Shirley V., Karagiannis, John A., Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Moller, Pal, Myrhoj, Torben, Nagengast, Fokko M., Parc, Yann, de Leon, Maurizio Ponz, Renkonen-Sinisalo, Laura, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, Astrid, Sijmons, Rolf H., Tejpar, Sabine, Thomas, Huw J. W., Rahner, Nils, Wijnen, Juul T., Jaervinen, Heikki Juhani and Moeslein, Gabriela 2013. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62 (6) , pp. 812-823. 10.1136/gutjnl-2012-304356

Yang, Jian ORCID: https://orcid.org/0000-0003-2631-4553, Kalogerou, M., Gallacher, John ORCID: https://orcid.org/0000-0002-2394-5299, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348 and Shen, Ming ORCID: https://orcid.org/0000-0002-3891-7231 2013. Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin. European Journal of Cancer 49 (6) , pp. 1479-1490. 10.1016/j.ejca.2012.10.027

Kalogerou, Maria, Zhang, Yadan, Yang, Jian ORCID: https://orcid.org/0000-0003-2631-4553, Garrahan, Nigel John, Paisey, Stephen James ORCID: https://orcid.org/0000-0002-2274-3708, Tokarczuk, Pawel, Stewart, Andrew, Gallacher, John Edward ORCID: https://orcid.org/0000-0002-2394-5299, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Shen, Ming Hong ORCID: https://orcid.org/0000-0002-3891-7231 2012. T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. European Journal of Radiology 81 (9) , pp. 2069-2074. 10.1016/j.ejrad.2011.06.054

Gribouval, Olivier, Morinière, Vincent, Pawtowski, Audrey, Arrondel, Christelle, Sallinen, Satu-Leena, Saloranta, Carola, Clericuzio, Carol, Viot, Géraldine, Tantau, Julia, Blesson, Sophie, Cloarec, Sylvie, Machet, Marie Christine, Chitayat, David, Thauvin, Christelle, Laurent, Nicole, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Bernstein, Jonathan A, Clemenson, Alix, Prieur, Fabienne, Daniel, Laurent, Levy-Mozziconacci, Annie, Lachlan, Katherine, Alessandri, Jean Luc, Cartault, François, Rivière, Jean Pierre, Picard, Nicole, Baumann, Clarisse, Delezoide, Anne Lise, Belar Ortega, Maria, Chassaing, Nicolas, Labrune, Philippe, Yu, Sui, Firth, Helen, Wellesley, Diana, Bitzan, Martin, Alfares, Ahmed, Braverman, Nancy, Krogh, Lotte, Tolmie, John, Gaspar, Harald, Doray, Bérénice, Majore, Silvia, Bonneau, Dominique, Triau, Stéphane, Loirat, Chantal, David, Albert, Bartholdi, Deborah, Peleg, Amir, Brackman, Damien, Stone, Rosario, DeBerardinis, Ralph, Corvol, Pierre, Michaud, Annie, Antignac, Corinne and Gubler, Marie Claire 2012. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation 33 (2) , pp. 316-326. 10.1002/humu.21661

Wong, H. T., McCartney, Deborah L., Lewis, Julia, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Howe, C. J. and De Vries, P. J. 2011. Individuals with TSC1 and TSC2 mutations show distinct patterns of intellectual abilities [Oral presentation abstract]. Journal of Intellectual Disability Research 55 (10) , p. 955. 10.1111/j.1365-2788.2011.01474_2.x

Nieuwenhuis, M. H., Vogt, S., Jones, N., Nielsen, M., Hes, F. J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Aretz, S. and Vasen, H. F. A. 2011. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 61 (5) , pp. 734-738. 10.1136/gut.2010.229104

Davies, David Mark, de Vries, P. J., Johnson, S. R., McCartney, Deborah L., Cox, J. A., Serra, A. L., Watson, P. C., Howe, C. J., Doyle, T., Pointon, K., Cross, J. J., Tattersfield, A. E., Kingswood, J. C. and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2011. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clinical Cancer Research 17 (12) , pp. 4071-4081. 10.1158/1078-0432.CCR-11-0445

Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, van den Heuvel, Diana, Mozaffari, Melika, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T., Metcalfe, Kay, Vallee, Stephanie, Krueger, Stefan, Bergoffen, JoAnn, Shashi, Vandana, Elmslie, Frances, Kwiatkowski, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Vidales, Concha, Dzarir, Jacinta, Garcia-Planells, Javier, Dies, Kira, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky and Nellist, Mark 2011. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human Mutation 32 (4) , pp. 424-435. 10.1002/humu.21451

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2011. Genomics, individuals and public health: a view from clinical genetics: Comment on Dr R.L. Zimmern's Genomics and individuals in public health practice: are we luddites or can we meet the challenge? Journal of Public Health 33 (4) , pp. 485-286. 10.1093/pubmed/fdr083

Yates, John R. W., MacLean, Cathy, Higgins, J. Nicholas P., Humphrey, Ayla, le Marechal, Kate, Clifford, Michelle, Carcani-Rathwell, Iris, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Bolton, Patrick F. 2011. The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Archives of Disease in Childhood 96 (11) , pp. 1020-1025. 10.1136/adc.2011.211995

Dunlop, Elaine A. ORCID: https://orcid.org/0000-0002-9209-7561, Dodd, Kayleigh M., Land, Stephen C, Davies, Peter A., Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel, Medeira, Ana Maria Duarte, Kingston, Helen, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Davies, David Mark and Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631 2011. Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. European Journal of Human Genetics 19 (7) , pp. 789-795. 10.1038/ejhg.2011.38

Winney, Bruce, Boumertit, Abdelhamid, Day, Tammy, Davison, Dan, Echeta, Chikodi, Evseeva, Irina, Hutnik, Katarzyna, Leslie, Stephen, Nicodemus, Kristin, Royrvik, Ellen C., Tonks, Susan, Yang, Xiaofeng, Cheshire, James, Longley, Paul, Mateos, Pablo, Groom, Alexandra, Relton, Caroline, Bishop, D. Tim, Black, Kathryn, Northwood, Emma, Parkinson, Louise, Frayling, Timothy M., Steele, Anna, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, King, Turi, Dixon, Ron, Middleton, Derek, Jennings, Barbara, Bowden, Rory, Donnelly, Peter and Bodmer, Walter 2011. People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. European Journal of Human Genetics 20 (2) , pp. 203-210. 10.1038/ejhg.2011.127

Out, Astrid A., Tops, Carli M. J., Nielsen, Maartje, Weiss, Marjan M., van Minderhout, Ivonne J.H.M., Fokkema, Ivo F. A. C., Buisine, Marie-Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo, Fostira, Florentia, Franken, Patrick F., Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V., Hogervorst, Frans B. L., Holinski-Feder, Elke, Lagerstedt-Robinson, Kristina, Olschwang, Sylviane, Ans M.W., van den Ouweland, Redeker, Egbert J. W., Scott, Rodney J., Vankeirsbilck, Bruno, Grønlund, Rikke Veggerby, Wijnen, Juul T., Wikman, Friedrik P., Aretz, Stefan, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Devilee, Peter, den Dunnen, Johan T. and Hes, Frederik J. 2010. Leiden open variation database of the MUTYH gene. Human Mutation 31 (11) , pp. 1205-1215. 10.1002/humu.21343

Nielsen, Maartje, van Steenbergen, Liza N., Jones, Natalie, Vogt, Stefanie, Vasen, Hans F. A., Morreau, Hans, Aretz, Stefan, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Dekkers, Olaf M., Janssen-Heijnen, Maryska L. G. and Hes, Frederik J. 2010. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. Journal of the National Cancer Institute 102 (22) , pp. 1724-1730. 10.1093/jnci/djq370

Beggs, A. D., Latchford, A. R., Vasen, H. F. A., Moslein, G., Alonso, A., Aretz, S., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Friedl, W., Moller, P., Hes, F. J., Jarvinen, H., Mecklin, J.-P., Nagengast, F. M., Parc, Y., Phillips, R. K. S., Hyer, W., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J. T., Clark, S. K. and Hodgson, S. V. 2010. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59 (7) , pp. 975-986. 10.1136/gut.2009.198499

Davies, David Mark and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2010. Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders. Journal of Medical Genetics 47 (3) , pp. 145-149. 10.1136/jmg.2008.064113

Grindedal, Eli Marie, Renkonen-Sinisalo, Laura, Vasen, Hans, Evans, Gareth, Sala, Paola, Blanco, Ignacio, Gronwald, Jacek, Apold, Jaran, Eccles, Diana M., Sanchez, Ángel Alonso, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Jarvinen, Heikki J., Bertario, Lucio, Crawford, Gillian C., Stormorken, Astrid Tenden, Maehle, Lovise and Moller, Pal 2010. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. Journal of Medical Genetics 47 (2) , pp. 99-102. 10.1136/jmg.2009.068130

Dallosso, Anthony Richard, Jones, Siân, Azzopardi, Duncan Lee, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Al-Tassan, Nada A., Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, Idziaszczyk, Shelley Alexis, Davies, D. Rhodri, Milewski, Peter, Williams, Sally, Beynon, John, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30 (10) , pp. 1412-1418. 10.1002/humu.21089

Jones, Natalie, Vogt, Stefanie, Nielsen, Maartje, Christian, Daria, Wark, Petra A., Eccles, Diana, Edwards, Emma, Evans, D. Gareth, Maher, Eamonn R., Vasen, Hans F., Hes, Frederik J., Aretz, Stefan and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2009. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137 (2) , pp. 489-494. 10.1053/j.gastro.2009.04.047

Nielsen, Maartje, Joerink - van de Beld, Mirjam C., Jones, Natalie, Vogt, Stefanie, Tops, Carli M., Vasen, Hans F.A., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Aretz, Stefan and Hes, Frederik J. 2009. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 136 (2) , pp. 471-476. 10.1053/j.gastro.2008.10.056

Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, Ian Martin, Rahner, N., Hes, F. J., Hodgson, S., Mecklin, J.-P., Møller, P., Myrhøj, T., Nagengast, F. M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J., Lubinski, J., Järvinen, H., Claes, E., Heinimann, K., Karagiannis, J. A., Lindblom, A., Dove-Edwin, I. and Müller, H. 2009. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9 (2) , pp. 109-115. 10.1007/s10689-009-9291-3

Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2009. Tuberous sclerosis complex. Schwab, Manfred, ed. Encyclopedia of Cancer. 2nd ed, Springer,

Vogt, Stefanie, Jones, Natalie, Christian, Daria, Engel, Christoph, Nielsen, Maartje, Kaufmann, Astrid, Steinke, Verena, Vasen, Hans F., Propping, Peter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Hes, Frederik J. and Aretz, Stefan 2009. Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis. Gastroenterology 137 (6) , pp. 1976-1985. 10.1053/j.gastro.2009.08.052

Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T., van den Ouweland, Ans, Halley, Dicky and Nellist, Mark 2009. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Medical Genetics 10 , pp. 1-12. 10.1186/1471-2350-10-88

University of Wales 2008. Screening methods and sequences relating thereto. US7393940B2. [Patent].

Gaspar, Claudia, Cardoso, Joana, Franken, Patrick, Molenaar, Lia, Morreau, Hans, Möslein, Gabriela, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Boer, Judith M., de Menezes, Renée X. and Fodde, Riccardo 2008. Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis. American Journal of Pathology 172 (5) , pp. 1363-1380. 10.2353/ajpath.2008.070851

Azzopardi, Duncan Lee, Dallosso, Anthony Richard, Eliason, Kristilyn, Hendrickson, Brant C., Jones, Natalie, Rawstorne, Edward Charles, Colley, James, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Frye, Cynthia, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Wenstrup, Richard, Scholl, Thomas and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68 (2) , pp. 358-363. 10.1158/0008-5472.CAN-07-5733

Davies, David Mark, Johnson, Simon R., Tattersfield, Anne E., Kingswood, J. Chris, Cox, Jane A., McCartney, Deborah L., Doyle, Tim, Elmslie, Frances, Saggar, Anand, de Vries, Petrus J. and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2008. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis [Letter]. New England Journal of Medicine 358 (2) , pp. 200-203. 10.1056/NEJMc072500

Vasen, H. F. A, Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, Ian Martin, Friedl, W., Hes, F. J., Hodgson, S., Jarvinen, H., Mecklin, J. P., Moller, P., Myrhoi, T., Nagengast, F. M., Parc, Y., Phillips, R., Clark, S. K., de Leon, M. P., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W. and Wijnen, J. 2008. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57 (5) , pp. 704-713. 10.1136/gut.2007.136127

Dallosso, Anthony Richard, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Jones, N., Jones, Sian, Colley, James, Maynard, Julie Helen, Idziaszczyk, Shelley Alexis, Humphreys, Vikki, Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D. G., Frayling, Ian, Hes, F. J., Houlston, R S, Maher, E R, Nielsen, M, Parry, S, Tyler, E, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57 (9) , pp. 1252-1255. 10.1136/gut.2007.145748

Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Dawson, Brian D. and Harris, Peter C. 2008. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney International 74 (11) , pp. 1468-1479. 10.1038/ki.2008.485

Vasen, H. F. A., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., Burn, J., Capella, G., Engel, C., Frayling, Ian Martin, Friedl, W., Hes, F. J., Hodgson, S., Mecklin, J-P, Moller, P., Nagengast, F., Parc, Y., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A. and Wijnen, J. 2007. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics 44 (6) , pp. 353-362. 10.1136/jmg.2007.048991

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6 (3) , pp. 274-279. 10.1016/j.dnarep.2006.11.001

Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, West, K.P., Newman, J., Stock, D., Williams, A.P., Best, J., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56 (4) , p. 593. 10.1136/gut.2006.094532

Wilson, Catherine Helen, Bonnet, Cleo, Guy, Carol, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Maynard, Julie Helen, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66 (16) , pp. 7934-8. 10.1158/0008-5472.CAN-06-1740

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Guy, Carol, Maynard, Julie Helen, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65 (22) , pp. 10179-10182. 10.1158/0008-5472.CAN-05-2688

Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Sivell, Stephanie ORCID: https://orcid.org/0000-0003-0253-1860, Bennert, Kristina, Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, France, L., Jordan, S., Rogers, Mark, Gray, Jonathon and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2005. An exploratory comparison of genetic counselling protocols for HNPCC predictive testing. Clinical Genetics 68 (3) , pp. 255-261. 10.1111/j.1399-0004.2005.00491.x

Colley, James, Jones, Sian, Dallosso, Anthony R., Maynard, Julie Helen, Humphreys, Vikki, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26 (2) , p. 165. 10.1002/humu.9354

Evans, Julie C., Archer, Hayley Louise, Colley, James, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E., Wright, Michael J., Pilz, Daniela, Lazarou, Lazarus, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Butler, Rachel, Whatley, Sharon D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10) , pp. 1113-1120. 10.1038/sj.ejhg.5201451

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Guy, Carol, Griffiths, David Francis Rees, Lazda, Edgar Janis, Bayne, Rosemary A. L., Smith, Andrew J. H., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14 (13) , pp. 1839-1850. 10.1093/hmg/ddi190

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Jones, Sian, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33 (4) , pp. 679-683. 10.1042/BST0330679

Bai, Haibo, Jones, Sian, Guan, Xin, Wilson, Teresa M., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Lu, A-Lien 2005. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Research 33 (2) , pp. 597-604. 10.1093/nar/gki209

Archer, Hayley Louise, Whatley, Sharon D., Evans, Julie C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lazarou, L., Butler, R., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Pilz, Daniela, Laccone, F. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Fleischmann, Christina, Peto, Julian, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Shah, Bindiya, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Houlston, Richard S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109 (4) , pp. 554-558. 10.1002/ijc.20020

Jones, Sian, Lambert, S., Williams, Geraint Trevor ORCID: https://orcid.org/0000-0003-3768-9940, Best, J. M., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90 (8) , pp. 1591-1593. 10.1038/sj.bjc.6601747

Al-Tassan, Nada, Eisen, Tim, Maynard, Julie Helen, Bridle, Helen, Shah, Bindiya, Fleischmann, Christina, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Houlston, Richard S. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114 (2) , pp. 207-210. 10.1007/s00439-003-1033-2

Kwiatkowski, D.J., Reeve, M. P., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Molecular genetics. Curatolo, Paolo, ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes, International Review of Child Neurology (Mac Keith Press), Cambridge: Cambridge University Press, pp. 228-263.

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12 (s2) , R159-R165. 10.1093/hmg/ddg259

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Jones, Sian, Eccles, Diana, Ellis, Anthony, Evans, D. Gareth, Frayling, Ian Martin, Jordan, Sheila, Maher, Eamonn R., Mak, Tony, Maynard, Julie Helen, Pigatto, Francesca, Shaw, Joan and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362 (9377) , pp. 39-41. 10.1016/S0140-6736(03)13805-6

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24 (7) , pp. 1281-1282. 10.1093/carcin/bgg068

Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Soldan, J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Gray, Jonathon 2003. Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres. Clinical Genetics 63 (3) , pp. 198-204. 10.1034/j.1399-0004.2003.00039.x

Emmerson, Paul, Maynard, Julie Helen, Jones, Sian, Butler, Rachel, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21 (2) , pp. 112-115. 10.1002/humu.10159

Jones, Sian, Emmerson, Paul, Maynard, Julie Helen, Best, Jacqueline M., Jordan, Sheila, Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11 (23) , pp. 2961-2967. 10.1093/hmg/11.23.2961

Al-Tassan, Nada ORCID: https://orcid.org/0000-0001-9453-8458, Chmiel, Nikolas H., Maynard, Julie Helen, Fleming, Nick, Livingston, Alison L., Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, Hodges, Angela Kaye, Davies, D.Rhodri, David, Sheila S., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30 (2) , pp. 227-32. 10.1038/ng828

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Krawczak, Michael, Thomas, Meinir W, Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 , pp. 363-366.

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Krawczak, Michael, Thomas, Meinir W., Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 (2) , pp. 363-366.

Antonarakis, Emmanuel S., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51 (2) , pp. 161-164. 10.1016/S0165-022X(02)00011-8

Hodges, Angela K., Li, Shaowei, Maynard, Julie Helen, Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Braverman, Richard, DeClue, Jeffrey E., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10 (25) , pp. 2899-9205. 10.1093/hmg/10.25.2899

Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Maynard, Julie Helen, Patel, A., Clifford, S. C., Morrissey, C., Maher, E. R., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85 , pp. 1226-1230. 10.1054/bjoc.2001.2072

Soucek, Thomas, Rosner, Margit, Miloloza, Angelina, Kubista, Marion, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Hengstschläger, Markus 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20 (35) , pp. 4904-4909.

Jones, Alistair C., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17 (3) , pp. 233-234. 10.1002/humu.8

Fleming, Nick, Maynard, Julie H., Tzitzis, Loukas, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47 (1-2) , pp. 131-136. 10.1016/S0165-022X(00)00159-7

Benvenuto, Giovanna, Li, Shaowei, Brown, Samantha J., Braverman, Richard, Vass, William C., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Halley, Dicky J. J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Wienecke, Ralf and DeClue, Jeffrey E. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19 (54) , pp. 6306-6316. 10.1038/sj.onc.1204009

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Dobbie, Lorraine, Idziaszczyk, Shelley, Hodges, Angela Kaye, Smith, Andrew J.H., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Young, Janet 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11 (12) , pp. 1135-1138. 10.1007/s003350010203

Lamlum, Hanan, Al-Tassan, Nada A., Jaeger, Emma, Frayling, Ian Martin, Sieber, Oliver, Bin Reza, Faisal, Eckert, Maria, Rowan, Andrew, Barclay, Ella, Atkin, Wendy, Williams, Christopher, Gilbert, John, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Bell, Jennie, Houlston, Richard, Bodmer, Walter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Tomlinson, Ian 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9 (15) , pp. 2215-2221.

Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Gray, Jonathon, Norman, Paul, France, Elizabeth, Anglim, Cathy, Barton, Garry, Parsons, Evelyn Patricia, Clarke, Alan Richard ORCID: https://orcid.org/0000-0002-4281-426X, Sweetland, Helen Margaret, Tischkowitz, Marc, Myring, Jenny, Stansfield, Kate, Webster, David, Gower-Thomas, Kate, Daoud, Raouf, Gateley, Chris, Montpenny, Ian, Singhal, Hemant, Branston, Lucy, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roberts, Elizabeth, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Cohen, David, Rogers, Cerilan, Mansel, Robert Edward ORCID: https://orcid.org/0000-0002-8051-0726 and Harper, Peter Stanley 2000. Randomized trial of a specialist genetic assessment service for familial breast cancer. Journal of the National Cancer Institute 92 (16) , pp. 1345-1351. 10.1093/jnci/92.16.1345

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Reeve, Mary Pat, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Kwiatkowski, David J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2) , pp. 97-114. 10.1007/s004390000348

Jones, Alistair C., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Cohen, David and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106 (6) , pp. 663-668. 10.1007/s004390000316

Gray, Jonathon, Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Norman, Paul, Anglim, Cathy, France, Liz, Barton, Garry, Branston, Lucy, Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roberts, Elizabeth, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Cohen, David, Rogers, Cerilan, Mansel, Robert Edward ORCID: https://orcid.org/0000-0002-8051-0726 and Harper, Peter 2000. A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer. Journal of Medical Genetics 37 (3) , pp. 192-196. 10.1136/jmg.37.3.192

Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Maynard, Julie Helen, Patel, Amit, Hodges, Angela, von Deimling, Andreas, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107 (4) , pp. 350-356. 10.1007/s004390000390

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Jones, Alistair C., Shyamsundar, Magitha M., Thomas, Meinir W., Maynard, Julie Helen, Idziaszczyk, Shelley, Tomkins, Susan, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64 (5) , pp. 1305-1315. 10.1086/302381

van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Snell, Russell, van den Ouweland, Ans, Reuser, Arnold, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Halley, D. and van der Sluijs, Peter 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7 (6) , pp. 1053-1057. 10.1093/hmg/7.6.1053

Jones, Alistair C., Daniells, Claire E., Snell, Russell G., Tachataki, Maria, Idziaszczyk, Shelley Alexis, Krawczak, Michael, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6 (12) , pp. 2155-2161. 10.1093/hmg/6.12.2155

Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Maheshwar, Magitha M., Aspinwall, Richard, Thompson, Peter, Cheadle, Jeremy P ORCID: https://orcid.org/0000-0001-9453-8458, Ravine, David, Roy, Sushmita, Haan, Eric, Bernstein, Jay and Harris, Peter C. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61 (4) , pp. 843-851. 10.1086/514888

Maheshwar, Magitha M., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Jones, Alistair C., Myring, Jenny, Fryer, Alan E., Harris, Peter C. and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6 (11) , pp. 1991-1996. 10.1093/hmg/6.11.1991

Kobayashi, Toshiyuki, Urakami, Shinji, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Aspinwall, Richard, Harris, Peter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Hino, Okio 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8 (8) , pp. 554-558. 10.1007/s003359900502

van Slegtenhorst, Marjon, de Hoogt, Ronald, Hermans, Caroline, Nellist, Mark, Janssen, Bart, Verhoef, Senno, Lindhout, Dick, van den Ouwenland, Ans, Halley, Dicky, Young, Janet, Burley, Mariwyn, Jeremiah, Steve, Woodward, Karen, Nahmias, Joseph, Fox, Margaret, Ekong, Rosemary, Osborne, John, Wolfe, Jonathan, Povey, Sue, Snell, Russell G., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Jones, Alistair C., Tachataki, Maria, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Reeve, Mary Pat, Richardson, Paul, Wilmer, Friederike, Munro, Cheryl, Hawkins, Trevor L., Sepp, Tiina, Ali, Johari B. M., Ward, Susannah, Green, Andrew J., Yates, John R. W., Kwiatkowska, Jolanta, Henske, Elizabeth P., Short, M. Priscilla, Haines, Jonathan H., Jowziak, Sergiusz and Kwiatkowski, David J. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 (5327) , pp. 805-808. 10.1126/science.277.5327.805

Aspinwall, Richard, Rothwell, Dominic G., Roldan- Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Lindahl, Thomas, Harris, Peter C. and Hickson, Ian D. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease  III. Proceedings of the National Academy of Sciences of the United States of America 94 (1) , pp. 109-114.

Maheshwar, Magitha M., Sandford, Richard, Nellist, Mark, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sgotto, Barbara, Vaudin, Mark and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5 (1) , pp. 131-137. 10.1093/hmg/5.1.131

Nellist, Mark, Janssen, Bart, Brook-Carter, Phillip T., Hesseling-Janssen, Arjenne L. W., Maheshwar, Magitha M., Verhoef, Senno, Van den Ouweland, Ans M. W., Lindhout, Dick, Eussen, Bert, Cordeiro, Isabel, Santos, Heloisa, Halley, Dicky J. J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Ward, Christopher J., Peral, Belen, Thomas, Sandra, Hughes, Jim, Harris, Peter C., Roelfsema, Jeroen H., Saris, Jasper J., Spruit, Lia, Peters, Dorien J. M., Dauwerse, Johannes G. and Bruening, Martijn H. 1993. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 (7) , pp. 1305-1315. 10.1016/0092-8674(93)90618-Z