Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

by Møller, Pål, Seppälä, Toni T, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H, Jeffries, Jacqueline, Vasen, Hans F.A, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul T, Jenkins, Mark A, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Dominguez-Valentin, Mev, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Möslein, Gabriela, Sampson, Julian R, Capella, Gabriel
Published in Gut

Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 Trial

by DAVIES, D. Mark, DE VRIES, Petrus J, CROSS, Justin J, TATTERSFIELD, Anne E, KINGSWOOD, J. Chris, SAMPSON, Julian R, JOHNSON, Simon R, MCCARTNEY, Deborah L, COX, Jane A, SERRA, Andreas L, WATSON, Peter C, HOWE, Christopher J, DOYLE, Tim, POINTON, Kate
Published in Clinical cancer research

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

by Sherwood, Kitty, Ward, Joseph C, Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R, Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Published in Nature communications

Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2+/− Mice

by Jones, Ashley T., Narov, Kalin, Yang, Jian, Sampson, Julian R., Shen, Ming Hong
Published in Neoplasia (New York, N.Y.)

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

by Sherwood, Kitty, Ward, Joseph C, Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R, Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Published in Nature communications

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD)

by Kingswood, Christopher, Bolton, Patrick, Crawford, Pamela, Harland, Christopher, Johnson, Simon R, Sampson, Julian R, Shepherd, Charles, Spink, Jayne, Demuth, Dirk, Lucchese, Lara, Nasuti, Paola, Gray, Elizabeth, Pinnegar, Alun, Magestro, Matthew
Published in European journal of paediatric neurology

MUTYH-associated polyposis—From defect in base excision repair to clinical genetic testing

by Cheadle, Jeremy P., Sampson, Julian R.
Published in DNA repair

Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2+/− Mice Is Superior to Everolimus Alone

by Yang, Jian, Samsel, Paulina A, Narov, Kalin, Jones, Ashley, Gallacher, Daniel, Gallacher, John, Sampson, Julian R, Shen, Ming Hong
Published in Neoplasia (New York, N.Y.)

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

by Northrup, Hope, Aronow, Mary E., Bebin, E. Martina, Bissler, John, Darling, Thomas N., de Vries, Petrus J., Frost, Michael D., Gosnell, Elizabeth S., Gupta, Nishant, Jansen, Anna C., Jóźwiak, Sergiusz, Kingswood, J. Chris, Knilans, Timothy K., McCormack, Francis X., Pounders, Ashley, Roberds, Steven L., Rodriguez-Buritica, David F., Roth, Jonathan, Sampson, Julian R., Sparagana, Steven, Thiele, Elizabeth Anne, Weiner, Howard L., Wheless, James W., Towbin, Alexander J., Krueger, Darcy A., Annear, Nicholas M.P., Aronow, Mary E., Bebin, E. Martina, 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, Gosnell, Elizabeth, Guay-Woodford, Lisa, Gupta, Nishant, Haddad, Luciana, Halbert, Anne, Hebert, Adelaide A., Henske, Elizabeth P., Hook, Dena, Hulbert, John, Jansen, Anna, Johnson, Simon R., Jóźwiak, Sergiusz, King, Bryan, Knilans, Timothy K., Koenig, Mary Kay, Korf, Bruce, Krueger, Darcy A., 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., Young, Lisa
Published in Pediatric neurology

Endoplasmic reticulum stress and cell death in mTORC1-overactive cells is induced by nelfinavir and enhanced by chloroquine

by Johnson, Charlotte E., Hunt, David K., Wiltshire, Marie, Herbert, Terry P., Sampson, Julian R., Errington, Rachel J., Davies, D. Mark, Tee, Andrew R.
Published in Molecular oncology

MUTYH -associated polyposis

by Sampson, Julian R., DM, FRCP, FMedSci, Jones, Natalie, BSc, PhD
Published in Baillière's best practice & research. Clinical gastroenterology

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

by 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 R., Dawson, Brian D., Harris, Peter C., for the CRISP Consortium
Published in Kidney international

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

by Dominguez-Valentin, Mev, Seppälä, Toni T, Sampson, Julian R, Macrae, Finlay, Winship, Ingrid, Evans, D Gareth, Scott, Rodney J, Burn, John, Möslein, Gabriela, Bernstein, Inge, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Lindblom, Annika, Plazzer, John-Paul, Tjandra, Douglas, Thomas, Huw, Green, Kate, Lalloo, Fiona, Crosbie, Emma J, Hill, James, Capella, Gabriel, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Rønlund, Karina, Nielsen, Randi Thyregaard, Yilmaz, Mette, Elvang, Louise Laurberg, Katz, Lior, Nielsen, Maartje, Ten Broeke, Sanne W, Nakken, Sigve, Hovig, Eivind, Sunde, Lone, Kloor, Matthias, Knebel Doeberitz, Magnus V, Ahadova, Aysel, Lindor, Noralane, Steinke-Lange, Verena, Holinski-Feder, Elke, Mecklin, Jukka-Pekka, Møller, Pål
Published in Hereditary cancer in clinical practice

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

by Annear, Nicholas M. P., Appleton, Richard E., Bassi, Zahabiyah, Bhatt, Rupesh, Bolton, Patrick F., Crawford, Pamela, Crowe, Alex, Tossi, Maureen, Elmslie, Frances, Finlay, Eric, Gale, Daniel P., Henderson, Alex, Jones, Elizabeth A., Johnson, Simon R., Joss, Shelagh, Kerecuk, Larissa, Lipkin, Graham, Morrison, Patrick J., O'Callaghan, Finbar J., Cadwgan, Jill, Ong, Albert C. M., Sampson, Julian R., Shepherd, Charles, Kingswood, J. Chris
Published in Frontiers in neurology

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

by Seppälä, Toni, Pylvänäinen, Kirsi, Evans, Dafydd Gareth, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, 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, Jenkins, Mark, Genuardi, Maurizio, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Frayling, Ian M, Plazzer, John-Paul, Sampson, Julian R, Capella, Gabriel, Möslein, Gabriela, Mecklin, Jukka-Pekka, Møller, Pål
Published in Hereditary cancer in clinical practice

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

by Dominguez-Valentin, Mev, Sampson, Julian R, Seppälä, Toni T, Ten Broeke, Sanne W, Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A, Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos Tot Nederveen Cappel, Wouter H, Sijmons, Rolf H, Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H, Heinimann, Karl, Vaccaro, Carlos A, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L, Win, Aung Ko, Haile, Robert W, Lindor, Noralane M, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Figueiredo, Jane C, Thibodeau, Stephen N, Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J, Hill, James, Denton, Oliver G, Frayling, Ian M, Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M, Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, Møller, Pål
Published in Genetics in medicine

Assessment of Response of Kidney Tumors to Rapamycin and Atorvastatin in Tsc1 +/- Mice

by Shen, Ming Hong, Samsel, Paulina, Shen, Louise L, Narov, Kalin, Yang, Jian, Sampson, Julian R
Published in Translational oncology

Peter S. Harper: obituary

by Clarke, Angus J., Sampson, Julian R.
Published in Human genetics

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

by Dominguez-Valentin, Mev, Seppälä, Toni T, 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 Grazia, Cavestro, Giulia Martina, 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, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Sampson, Julian R, Ryan, Neil A J, Evans, D Gareth, Møller, Pål, Crosbie, Emma J
Published in Journal of clinical medicine

The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex

by Tee, Andrew R., Sampson, Julian R., Pal, Deb K., Bateman, Joseph M.
Published in Seminars in cell & developmental biology