41 results on '"Ramaswamy, Vijay"'
Search Results
2. 40 Proton Therapy Mediates Dose Reductions to Critical Brain Organs at Risk Which are Associated with Better Cognition in Children with Medulloblastoma
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Sienna, Julianna, primary, Kahalley, Lisa, additional, Mabbott, Donald, additional, Grosshans, David, additional, Santiago, Anna Theresa, additional, Paulino, Arnold, additional, Manzar, Gohar Shahwar, additional, Dama, Hitesh, additional, Chintagumpala, Murali, additional, Okcu, Mehmet Fatih, additional, Whitehead, William, additional, Ramaswamy, Vijay, additional, Laperriere, Normand, additional, Merchant, Thomas, additional, Craig, Tim, additional, and Tsang, Derek, additional
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- 2023
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3. Mechanosensitive brain tumor cells construct blood-tumor barrier to mask chemosensitivity
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Chen, Xin, primary, Momin, Ali, additional, Wanggou, Siyi, additional, Wang, Xian, additional, Min, Hyun-Kee, additional, Dou, Wenkun, additional, Gong, Zheyuan, additional, Chan, Jade, additional, Dong, Weifan, additional, Fan, Jerry J., additional, Xiong, Yi, additional, Talipova, Kamilia, additional, Zhao, Hongyu, additional, Chen, Yuki X., additional, Veerasammy, Kelly, additional, Fekete, Adam, additional, Kumar, Sachin A., additional, Liu, Hongwei, additional, Yang, Qi, additional, Son, Joe Eun, additional, Dou, Zhengchao, additional, Hu, Malini, additional, Pardis, Parnian, additional, Juraschka, Kyle, additional, Donovan, Laura K., additional, Zhang, Jiao, additional, Ramaswamy, Vijay, additional, Selvadurai, Hayden J., additional, Dirks, Peter B., additional, Taylor, Michael D., additional, Wang, Lu-Yang, additional, Hui, Chi-chung, additional, Abzalimov, Rinat, additional, He, Ye, additional, Sun, Yu, additional, Li, Xuejun, additional, and Huang, Xi, additional
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- 2023
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4. Insult to Short-range White Matter Connectivity in Childhood Brain Tumor Survivors
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Oyefiade, Adeoye, primary, Parthab, Nadeem, additional, Skocic, Jovanka, additional, Moxon-Emre, Iska, additional, Tabori, Uri, additional, Bouffet, Eric, additional, Ramaswamy, Vijay, additional, Laughlin, Susanne, additional, and Mabbott, Donald J., additional
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- 2023
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5. Structural connectivity and intelligence in brain-injured children
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Oyefiade, Adeoye, primary, Moxon-Emre, Iska, additional, Beera, Kiran, additional, Bouffet, Eric, additional, Taylor, Michael, additional, Ramaswamy, Vijay, additional, Laughlin, Suzanne, additional, Skocic, Jovanka, additional, and Mabbott, Donald, additional
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- 2022
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6. Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study
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Khan, Sara, primary, Solano-Paez, Palma, additional, Suwal, Tannu, additional, Lu, Mei, additional, Al-Karmi, Salma, additional, Ho, Ben, additional, Mumal, Iqra, additional, Shago, Mary, additional, Hoffman, Lindsey M, additional, Dodgshun, Andrew, additional, Nobusawa, Sumihito, additional, Tabori, Uri, additional, Bartels, Ute, additional, Ziegler, David S, additional, Hansford, Jordan R, additional, Ramaswamy, Vijay, additional, Hawkins, Cynthia, additional, Dufour, Christelle, additional, André, Nicolas, additional, Bouffet, Eric, additional, Huang, Annie, additional, Gonzalez CV, Almeida, additional, Stephens, Derek, additional, Leary, Sarah, additional, Marrano, Paula, additional, Fonseca, Adriana, additional, Thacker, Nirav, additional, Li, Bryan K., additional, Lindsay, Holly B., additional, Lassaletta, Alvaro, additional, Bendel, Anne E., additional, Moertel, Christopher, additional, Morales La Madrid, Andres, additional, Santa-Maria, Vicente, additional, Lavarino, Cinzia, additional, Rivas, Eloy, additional, Perreault, Sebastian, additional, Ellezam, Benjamin, additional, Weil, Alexander G, additional, Jabado, Nada, additional, Oviedo, Angelica, additional, Yalon-Oren, Michal, additional, Amariglio, Laura, additional, Toledano, Helen, additional, Dvir, Rina, additional, Loukides, James, additional, Van Meter, Timothy E., additional, Nakamura, Hideo, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Cheng, Chien-Jui, additional, Ra, Young-Shin, additional, La Spina, Milena, additional, Massimi, Luca, additional, Buccoliero, Anna Maria, additional, Reddy, Alyssa, additional, Li, Rong, additional, Gillespie, G. Yancey, additional, Adamek, Dariusz, additional, Fangusaro, Jason, additional, Scharnhorst, David, additional, Torkildson, Joseph, additional, Johnston, Donna, additional, Michaud, Jean, additional, LafayCousin, Lucie, additional, Chan, Jennifer, additional, Van Landeghem, Frank, additional, Wilson, Beverly, additional, Camelo-Piragua, Sandra, additional, Kabbara, Nabil, additional, Boutarbouch, Mahjouba, additional, Hanson, Derek, additional, Jacobsen, Chad, additional, Wright, Karen, additional, Vibhakar, Rajeev, additional, Levy, Jean M., additional, Wang, Yin, additional, Catchpoole, Daniel, additional, Gerber, Nicholas, additional, Grotzer, Michael A., additional, Shen, Violet, additional, Plant, Ashley, additional, Dunham, Christopher, additional, Joao Gil da Costa, Maria, additional, Ramanujachar, Ramya, additional, Raabe, Eric, additional, Rubens, Jeffery, additional, Phillips, Joanna, additional, Gupta, Nalin, additional, Demir, Haci Ahmet, additional, Dahl, Christine, additional, Jorgensen, Mette, additional, Hwang, Eugene I., additional, Packer, Roger J, additional, Smith, Amy, additional, Tan, Enrica, additional, Low, Sharon, additional, Lu, Jian-Qiang, additional, Ng, Ho- Keung, additional, Kresak, Jesse L., additional, Gururangan, Sridharan, additional, Pomeroy, Scott L., additional, Sirachainan, Nongnuch, additional, Hongeng, Suradej, additional, Magimairajan, Vanan, additional, Sinha, Roona, additional, Mushtaq, Naureen, additional, Antony, Reuben, additional, Sato, Mariko, additional, Samuel, David, additional, Zapotocky, Michal, additional, Afzal, Samina, additional, Walter, Andrew, additional, Tihan, Tarik, additional, Tsang, Derek S., additional, Gajjar, Amar, additional, Wood, Paul, additional, Cain, Jason E., additional, Downie, Peter A., additional, Gottardo, Nicolas, additional, Branson, Helen, additional, Laughlin, Suzanne, additional, Ertl-Wagner, Birgit, additional, Kulkarni, Abhaya V., additional, Taylor, Michael D., additional, Drake, James, additional, Ibrahim, George M., additional, Dirks, Peter B., additional, Rutka, James T., additional, Somers, Gino R., additional, Hazrati, Lili-Naz, additional, Bourdeaut, Franck, additional, Padovani, Laetitia, additional, Grundy, Richard G., additional, Mazewski, Claire M., additional, and Fouladi, Maryam, additional
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- 2021
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7. 41: Hearing Loss After Radiation and Chemotherapy for Central Nervous System and Head and Neck Tumours in Children
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Liu, Zhihui Amy, primary, Papaioannou, Vicky, additional, Bouffet, Eric, additional, Hodgson, David, additional, Keilty, Dana, additional, Khandwala, Mohammad, additional, Yee, Ryan, additional, Laperriere, Normand, additional, Ahmed, Sameera, additional, Mabbott, Donald, additional, Cushing, Sharon L., additional, Ramaswamy, Vijay, additional, Tabori, Uri, additional, Huang, Annie, additional, Bartels, Ute, additional, and Tsang, Derek S., additional
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- 2021
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8. 60: Re-Evaluating Surgery and Re-Irradiation for Locally Recurrent Pediatric Ependymoma – A Multi-Institutional Study
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Mak, David Y., primary, Laperriere, Normand, additional, Ramaswamy, Vijay, additional, Bouffet, Eric, additional, Murray, Jeffrey C., additional, McNall-Knapp, Rene Y., additional, Bielamowicz, Kevin, additional, Paulino, Arnold C., additional, Zaky, Wafik, additional, McGovern, Susan L., additional, Okcu, M. Fatih, additional, Tabori, Uri, additional, Dirks, Peter B., additional, Taylor, Michael D., additional, Tsang, Derek S., additional, and Bavle, Abhishek, additional
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- 2021
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9. Reirradiation for recurrent craniopharyngioma
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Foran, Sarah J., primary, Laperriere, Normand, additional, Edelstein, Kim, additional, Janzen, Laura, additional, Tadic, Tony, additional, Ramaswamy, Vijay, additional, Shultz, David, additional, Gentili, Fred, additional, Bouffet, Eric, additional, and Tsang, Derek S., additional
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- 2020
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10. 54: Re-Irradiation for Recurrent Craniopharyngioma
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Foran, Sarah, primary, Laperriere, Normand, additional, Edelstein, Kim, additional, Janzen, Laura, additional, Ramaswamy, Vijay, additional, Shultz, David, additional, Gentili, Fred, additional, Bouffet, Eric, additional, and Tsang, Derek, additional
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- 2020
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11. Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma
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Michealraj, Kulandaimanuvel Antony, primary, Kumar, Sachin A., additional, Kim, Leo J.Y., additional, Cavalli, Florence M.G., additional, Przelicki, David, additional, Wojcik, John B., additional, Delaidelli, Alberto, additional, Bajic, Andrea, additional, Saulnier, Olivier, additional, MacLeod, Graham, additional, Vellanki, Ravi N., additional, Vladoiu, Maria C., additional, Guilhamon, Paul, additional, Ong, Winnie, additional, Lee, John J.Y., additional, Jiang, Yanqing, additional, Holgado, Borja L., additional, Rasnitsyn, Alex, additional, Malik, Ahmad A., additional, Tsai, Ricky, additional, Richman, Cory M., additional, Juraschka, Kyle, additional, Haapasalo, Joonas, additional, Wang, Evan Y., additional, De Antonellis, Pasqualino, additional, Suzuki, Hiromichi, additional, Farooq, Hamza, additional, Balin, Polina, additional, Kharas, Kaitlin, additional, Van Ommeren, Randy, additional, Sirbu, Olga, additional, Rastan, Avesta, additional, Krumholtz, Stacey L., additional, Ly, Michelle, additional, Ahmadi, Moloud, additional, Deblois, Geneviève, additional, Srikanthan, Dilakshan, additional, Luu, Betty, additional, Loukides, James, additional, Wu, Xiaochong, additional, Garzia, Livia, additional, Ramaswamy, Vijay, additional, Kanshin, Evgeny, additional, Sánchez-Osuna, María, additional, El-Hamamy, Ibrahim, additional, Coutinho, Fiona J., additional, Prinos, Panagiotis, additional, Singh, Sheila, additional, Donovan, Laura K., additional, Daniels, Craig, additional, Schramek, Daniel, additional, Tyers, Mike, additional, Weiss, Samuel, additional, Stein, Lincoln D., additional, Lupien, Mathieu, additional, Wouters, Bradly G., additional, Garcia, Benjamin A., additional, Arrowsmith, Cheryl H., additional, Sorensen, Poul H., additional, Angers, Stephane, additional, Jabado, Nada, additional, Dirks, Peter B., additional, Mack, Stephen C., additional, Agnihotri, Sameer, additional, Rich, Jeremy N., additional, and Taylor, Michael D., additional
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- 2020
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12. Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma
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Nobre, Liana, primary, Zapotocky, Michal, additional, Khan, Sara, additional, Fukuoka, Kohei, additional, Fonseca, Adriana, additional, McKeown, Tara, additional, Sumerauer, David, additional, Vicha, Ales, additional, Grajkowska, Wieslawa A., additional, Trubicka, Joanna, additional, Li, Kay Ka Wai, additional, Ng, Ho-Keung, additional, Massimi, Luca, additional, Lee, Ji Yeoun, additional, Kim, Seung-Ki, additional, Zelcer, Shayna, additional, Vasiljevic, Alexandre, additional, Faure-Conter, Cécile, additional, Hauser, Peter, additional, Lach, Boleslaw, additional, van Veelen-Vincent, Marie-Lise, additional, French, Pim J., additional, Van Meir, Erwin G., additional, Weiss, William A., additional, Gupta, Nalin, additional, Pollack, Ian F., additional, Hamilton, Ronald L., additional, Nageswara Rao, Amulya A., additional, Giannini, Caterina, additional, Rubin, Joshua B., additional, Moore, Andrew S., additional, Chambless, Lola B., additional, Vibhakar, Rajeev, additional, Ra, Young Shin, additional, Massimino, Maura, additional, McLendon, Roger E., additional, Wheeler, Helen, additional, Zollo, Massimo, additional, Ferruci, Veronica, additional, Kumabe, Toshihiro, additional, Faria, Claudia C., additional, Sterba, Jaroslav, additional, Jung, Shin, additional, López-Aguilar, Enrique, additional, Mora, Jaume, additional, Carlotti, Carlos G., additional, Olson, James M., additional, Leary, Sarah, additional, Cain, Jason, additional, Krskova, Lenka, additional, Zamecnik, Josef, additional, Hawkins, Cynthia E., additional, Tabori, Uri, additional, Huang, Annie, additional, Bartels, Ute, additional, Northcott, Paul A., additional, Taylor, Michael D., additional, Yip, Stephen, additional, Hansford, Jordan R., additional, Bouffet, Eric, additional, and Ramaswamy, Vijay, additional
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- 2020
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13. Minimizing General Anesthetic Use in Pediatric Radiation Therapy
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Ntoukas, Stephanie M., primary, Ritchie, Tatiana, additional, Awrey, Susan, additional, Hodgson, David C., additional, Laperriere, Normand, additional, Yee, Ryan, additional, Ramaswamy, Vijay, additional, Millar, Barbara-Ann, additional, Becker, Nathan, additional, and Tsang, Derek S., additional
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- 2020
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14. Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas
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Ryall, Scott, primary, Zapotocky, Michal, additional, Fukuoka, Kohei, additional, Nobre, Liana, additional, Guerreiro Stucklin, Ana, additional, Bennett, Julie, additional, Siddaway, Robert, additional, Li, Christopher, additional, Pajovic, Sanja, additional, Arnoldo, Anthony, additional, Kowalski, Paul E., additional, Johnson, Monique, additional, Sheth, Javal, additional, Lassaletta, Alvaro, additional, Tatevossian, Ruth G., additional, Orisme, Wilda, additional, Qaddoumi, Ibrahim, additional, Surrey, Lea F., additional, Li, Marilyn M., additional, Waanders, Angela J., additional, Gilheeney, Stephen, additional, Rosenblum, Marc, additional, Bale, Tejus, additional, Tsang, Derek S., additional, Laperriere, Normand, additional, Kulkarni, Abhaya, additional, Ibrahim, George M., additional, Drake, James, additional, Dirks, Peter, additional, Taylor, Michael D., additional, Rutka, James T., additional, Laughlin, Suzanne, additional, Shroff, Manohar, additional, Shago, Mary, additional, Hazrati, Lili-Naz, additional, D'Arcy, Colleen, additional, Ramaswamy, Vijay, additional, Bartels, Ute, additional, Huang, Annie, additional, Bouffet, Eric, additional, Karajannis, Matthias A., additional, Santi, Mariarita, additional, Ellison, David W., additional, Tabori, Uri, additional, and Hawkins, Cynthia, additional
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- 2020
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15. 101 Re-Irradiation for Children with Recurrent Supratentorial High-Grade Glioma
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Oliveira, Carol, primary, Laperriere, Normand J., additional, Bouffet, Eric, additional, Hawkins, Cynthia, additional, Ramaswamy, Vijay, additional, Yee, Ryan, additional, Tabori, Uri, additional, Bartels, Ute, additional, Huang, Annie, additional, Millar, Barbara-Ann, additional, Crooks, Bruce, additional, Bowes, Lynette, additional, Zelcer, Shayna, additional, and Tsang, Derek S., additional
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- 2019
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16. 140 Re-Defining Ventricular Target Volume in Germinoma: Is Inclusion of Temporal Horns Necessary?
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Yan, Michael, primary, Laperriere, Normand, additional, Bartels, Ute, additional, Velec, Michael, additional, Ramaswamy, Vijay, additional, Bouffet, Eric, additional, and Tsang, Derek, additional
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- 2019
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17. Redefining Ventricular Target Volume in Germinoma: Is Inclusion of Temporal Horns Necessary?
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Yan, Michael, primary, Laperriere, Normand, additional, Velec, Michael, additional, Bartels, Ute, additional, Ramaswamy, Vijay, additional, Bouffet, Eric, additional, and Tsang, Derek S., additional
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- 2019
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18. 6. Expansion of the validation of Illumina MethylationEPIC BeadChip for medulloblastoma (MB) subgrouping and copy number analysis across institutions and results from the initial 47 clinical cases
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Smolarek, Teresa, primary, Hott, Brenna, additional, Salloum, Ralph, additional, Fuller, Christine, additional, Ramaswamy, Vijay, additional, Taylor, Michael, additional, Fouladi, Maryam, additional, Dyer, Lisa, additional, and Drissi, Rachid, additional
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- 2019
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19. Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma
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Nobre, Liana, primary, Zapotocky, Michal, additional, Khan, Sara, additional, Fukuoka, Kohei, additional, Fonseca, Adriana, additional, Sumerauer, David, additional, Vicha, Ales, additional, Grajkowska, Wieslawa, additional, Trubicka, Joanna, additional, Li, Kay Ka Wai, additional, Ng, Ho-Keung, additional, Massimi, Luca, additional, Lee, Ji Yeoun, additional, Kim, Seung-Ki, additional, Zelcer, Shayna, additional, VASILJEVIC, Alexandre, additional, Faure-Contre, Cecile, additional, Hauser, Peter, additional, Lach, Boleslaw, additional, van vincent veelen, Marie-Lise, additional, French, Pim J., additional, Van Meir, Erwin G., additional, Weiss, William A., additional, Gupta, Nalin, additional, Pollack, Ian F., additional, Hamilton, Ronald L., additional, Nageswara Rao, Amulya, additional, Giannini, Caterina, additional, Rubin, Joshua B., additional, Moore, Andrew S., additional, Chambless, Lola B., additional, Vibhakar, Rajeev, additional, Ra, Young Shin, additional, Massimino, Maura, additional, MacLendon, Roger E., additional, Wheeler, Helen, additional, Zollo, Massimo, additional, Ferruci, Veronica, additional, Kumabe, Toshihiro, additional, Faria, Claudia C., additional, Sterba, Jaroslav, additional, Jung, Shin, additional, López-Aguilar, Enrique, additional, Mora, Jaume, additional, Carlotti, Carlos, additional, Olson, James M., additional, Leary, Sarah, additional, Cain, Jason, additional, Krskova, Lenka, additional, Zamecnik, Josef, additional, Hawkins, Cynthia E., additional, Tabori, Uri, additional, Huang, Annie, additional, Bartels, Ute, additional, Northcott, Paul, additional, Taylor, Michael D., additional, Hansford, Jordan, additional, Bouffet, Eric, additional, and ramaswamy, vijay, additional
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- 2019
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20. Aberrant ERBB4-SRC Signaling as a Hallmark of Group 4 Medulloblastoma Revealed by Integrative Phosphoproteomic Profiling
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Forget, Antoine, primary, Martignetti, Loredana, additional, Puget, Stéphanie, additional, Calzone, Laurence, additional, Brabetz, Sebastian, additional, Picard, Daniel, additional, Montagud, Arnau, additional, Liva, Stéphane, additional, Sta, Alexandre, additional, Dingli, Florent, additional, Arras, Guillaume, additional, Rivera, Jaime, additional, Loew, Damarys, additional, Besnard, Aurore, additional, Lacombe, Joëlle, additional, Pagès, Mélanie, additional, Varlet, Pascale, additional, Dufour, Christelle, additional, Yu, Hua, additional, Mercier, Audrey L., additional, Indersie, Emilie, additional, Chivet, Anaïs, additional, Leboucher, Sophie, additional, Sieber, Laura, additional, Beccaria, Kevin, additional, Gombert, Michael, additional, Meyer, Frauke D., additional, Qin, Nan, additional, Bartl, Jasmin, additional, Chavez, Lukas, additional, Okonechnikov, Konstantin, additional, Sharma, Tanvi, additional, Thatikonda, Venu, additional, Bourdeaut, Franck, additional, Pouponnot, Celio, additional, Ramaswamy, Vijay, additional, Korshunov, Andrey, additional, Borkhardt, Arndt, additional, Reifenberger, Guido, additional, Poullet, Patrick, additional, Taylor, Michael D., additional, Kool, Marcel, additional, Pfister, Stefan M., additional, Kawauchi, Daisuke, additional, Barillot, Emmanuel, additional, Remke, Marc, additional, and Ayrault, Olivier, additional
- Published
- 2018
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21. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
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Waszak, Sebastian M, primary, Northcott, Paul A, additional, Buchhalter, Ivo, additional, Robinson, Giles W, additional, Sutter, Christian, additional, Groebner, Susanne, additional, Grund, Kerstin B, additional, Brugières, Laurence, additional, Jones, David T W, additional, Pajtler, Kristian W, additional, Morrissy, A Sorana, additional, Kool, Marcel, additional, Sturm, Dominik, additional, Chavez, Lukas, additional, Ernst, Aurelie, additional, Brabetz, Sebastian, additional, Hain, Michael, additional, Zichner, Thomas, additional, Segura-Wang, Maia, additional, Weischenfeldt, Joachim, additional, Rausch, Tobias, additional, Mardin, Balca R, additional, Zhou, Xin, additional, Baciu, Cristina, additional, Lawerenz, Christian, additional, Chan, Jennifer A, additional, Varlet, Pascale, additional, Guerrini-Rousseau, Lea, additional, Fults, Daniel W, additional, Grajkowska, Wiesława, additional, Hauser, Peter, additional, Jabado, Nada, additional, Ra, Young-Shin, additional, Zitterbart, Karel, additional, Shringarpure, Suyash S, additional, De La Vega, Francisco M, additional, Bustamante, Carlos D, additional, Ng, Ho-Keung, additional, Perry, Arie, additional, MacDonald, Tobey J, additional, Hernáiz Driever, Pablo, additional, Bendel, Anne E, additional, Bowers, Daniel C, additional, McCowage, Geoffrey, additional, Chintagumpala, Murali M, additional, Cohn, Richard, additional, Hassall, Timothy, additional, Fleischhack, Gudrun, additional, Eggen, Tone, additional, Wesenberg, Finn, additional, Feychting, Maria, additional, Lannering, Birgitta, additional, Schüz, Joachim, additional, Johansen, Christoffer, additional, Andersen, Tina V, additional, Röösli, Martin, additional, Kuehni, Claudia E, additional, Grotzer, Michael, additional, Kjaerheim, Kristina, additional, Monoranu, Camelia M, additional, Archer, Tenley C, additional, Duke, Elizabeth, additional, Pomeroy, Scott L, additional, Shelagh, Redmond, additional, Frank, Stephan, additional, Sumerauer, David, additional, Scheurlen, Wolfram, additional, Ryzhova, Marina V, additional, Milde, Till, additional, Kratz, Christian P, additional, Samuel, David, additional, Zhang, Jinghui, additional, Solomon, David A, additional, Marra, Marco, additional, Eils, Roland, additional, Bartram, Claus R, additional, von Hoff, Katja, additional, Rutkowski, Stefan, additional, Ramaswamy, Vijay, additional, Gilbertson, Richard J, additional, Korshunov, Andrey, additional, Taylor, Michael D, additional, Lichter, Peter, additional, Malkin, David, additional, Gajjar, Amar, additional, Korbel, Jan O, additional, and Pfister, Stefan M, additional
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- 2018
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22. A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases
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Garzia, Livia, primary, Kijima, Noriyuki, additional, Morrissy, A. Sorana, additional, De Antonellis, Pasqualino, additional, Guerreiro-Stucklin, Ana, additional, Holgado, Borja L., additional, Wu, Xiaochong, additional, Wang, Xin, additional, Parsons, Michael, additional, Zayne, Kory, additional, Manno, Alex, additional, Kuzan-Fischer, Claudia, additional, Nor, Carolina, additional, Donovan, Laura K., additional, Liu, Jessica, additional, Qin, Lei, additional, Garancher, Alexandra, additional, Liu, Kun-Wei, additional, Mansouri, Sheila, additional, Luu, Betty, additional, Thompson, Yuan Yao, additional, Ramaswamy, Vijay, additional, Peacock, John, additional, Farooq, Hamza, additional, Skowron, Patryk, additional, Shih, David J.H., additional, Li, Angela, additional, Ensan, Sherine, additional, Robbins, Clinton S., additional, Cybulsky, Myron, additional, Mitra, Siddhartha, additional, Ma, Yussanne, additional, Moore, Richard, additional, Mungall, Andy, additional, Cho, Yoon-Jae, additional, Weiss, William A., additional, Chan, Jennifer A., additional, Hawkins, Cynthia E., additional, Massimino, Maura, additional, Jabado, Nada, additional, Zapotocky, Michal, additional, Sumerauer, David, additional, Bouffet, Eric, additional, Dirks, Peter, additional, Tabori, Uri, additional, Sorensen, Poul H.B., additional, Brastianos, Priscilla K., additional, Aldape, Kenneth, additional, Jones, Steven J.M., additional, Marra, Marco A., additional, Woodgett, James R., additional, Wechsler-Reya, Robert J., additional, Fults, Daniel W., additional, and Taylor, Michael D., additional
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- 2018
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23. Integrating RNA sequencing into neuro-oncology practice
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Rogawski, David S., primary, Vitanza, Nicholas A., additional, Gauthier, Angela C., additional, Ramaswamy, Vijay, additional, and Koschmann, Carl, additional
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- 2017
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24. Pontine Infantile Glioma Simplified
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Ramaswamy, Vijay, primary and Taylor, Michael D., additional
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- 2017
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25. Comprehensive Analysis of Hypermutation in Human Cancer
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Campbell, Brittany B., primary, Light, Nicholas, additional, Fabrizio, David, additional, Zatzman, Matthew, additional, Fuligni, Fabio, additional, de Borja, Richard, additional, Davidson, Scott, additional, Edwards, Melissa, additional, Elvin, Julia A., additional, Hodel, Karl P., additional, Zahurancik, Walter J., additional, Suo, Zucai, additional, Lipman, Tatiana, additional, Wimmer, Katharina, additional, Kratz, Christian P., additional, Bowers, Daniel C., additional, Laetsch, Theodore W., additional, Dunn, Gavin P., additional, Johanns, Tanner M., additional, Grimmer, Matthew R., additional, Smirnov, Ivan V., additional, Larouche, Valérie, additional, Samuel, David, additional, Bronsema, Annika, additional, Osborn, Michael, additional, Stearns, Duncan, additional, Raman, Pichai, additional, Cole, Kristina A., additional, Storm, Phillip B., additional, Yalon, Michal, additional, Opocher, Enrico, additional, Mason, Gary, additional, Thomas, Gregory A., additional, Sabel, Magnus, additional, George, Ben, additional, Ziegler, David S., additional, Lindhorst, Scott, additional, Issai, Vanan Magimairajan, additional, Constantini, Shlomi, additional, Toledano, Helen, additional, Elhasid, Ronit, additional, Farah, Roula, additional, Dvir, Rina, additional, Dirks, Peter, additional, Huang, Annie, additional, Galati, Melissa A., additional, Chung, Jiil, additional, Ramaswamy, Vijay, additional, Irwin, Meredith S., additional, Aronson, Melyssa, additional, Durno, Carol, additional, Taylor, Michael D., additional, Rechavi, Gideon, additional, Maris, John M., additional, Bouffet, Eric, additional, Hawkins, Cynthia, additional, Costello, Joseph F., additional, Meyn, M. Stephen, additional, Pursell, Zachary F., additional, Malkin, David, additional, Tabori, Uri, additional, and Shlien, Adam, additional
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- 2017
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26. Intertumoral Heterogeneity within Medulloblastoma Subgroups
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Cavalli, Florence M.G., primary, Remke, Marc, additional, Rampasek, Ladislav, additional, Peacock, John, additional, Shih, David J.H., additional, Luu, Betty, additional, Garzia, Livia, additional, Torchia, Jonathon, additional, Nor, Carolina, additional, Morrissy, A. Sorana, additional, Agnihotri, Sameer, additional, Thompson, Yuan Yao, additional, Kuzan-Fischer, Claudia M., additional, Farooq, Hamza, additional, Isaev, Keren, additional, Daniels, Craig, additional, Cho, Byung-Kyu, additional, Kim, Seung-Ki, additional, Wang, Kyu-Chang, additional, Lee, Ji Yeoun, additional, Grajkowska, Wieslawa A., additional, Perek-Polnik, Marta, additional, Vasiljevic, Alexandre, additional, Faure-Conter, Cecile, additional, Jouvet, Anne, additional, Giannini, Caterina, additional, Nageswara Rao, Amulya A., additional, Li, Kay Ka Wai, additional, Ng, Ho-Keung, additional, Eberhart, Charles G., additional, Pollack, Ian F., additional, Hamilton, Ronald L., additional, Gillespie, G. Yancey, additional, Olson, James M., additional, Leary, Sarah, additional, Weiss, William A., additional, Lach, Boleslaw, additional, Chambless, Lola B., additional, Thompson, Reid C., additional, Cooper, Michael K., additional, Vibhakar, Rajeev, additional, Hauser, Peter, additional, van Veelen, Marie-Lise C., additional, Kros, Johan M., additional, French, Pim J., additional, Ra, Young Shin, additional, Kumabe, Toshihiro, additional, López-Aguilar, Enrique, additional, Zitterbart, Karel, additional, Sterba, Jaroslav, additional, Finocchiaro, Gaetano, additional, Massimino, Maura, additional, Van Meir, Erwin G., additional, Osuka, Satoru, additional, Shofuda, Tomoko, additional, Klekner, Almos, additional, Zollo, Massimo, additional, Leonard, Jeffrey R., additional, Rubin, Joshua B., additional, Jabado, Nada, additional, Albrecht, Steffen, additional, Mora, Jaume, additional, Van Meter, Timothy E., additional, Jung, Shin, additional, Moore, Andrew S., additional, Hallahan, Andrew R., additional, Chan, Jennifer A., additional, Tirapelli, Daniela P.C., additional, Carlotti, Carlos G., additional, Fouladi, Maryam, additional, Pimentel, José, additional, Faria, Claudia C., additional, Saad, Ali G., additional, Massimi, Luca, additional, Liau, Linda M., additional, Wheeler, Helen, additional, Nakamura, Hideo, additional, Elbabaa, Samer K., additional, Perezpeña-Diazconti, Mario, additional, Chico Ponce de León, Fernando, additional, Robinson, Shenandoah, additional, Zapotocky, Michal, additional, Lassaletta, Alvaro, additional, Huang, Annie, additional, Hawkins, Cynthia E., additional, Tabori, Uri, additional, Bouffet, Eric, additional, Bartels, Ute, additional, Dirks, Peter B., additional, Rutka, James T., additional, Bader, Gary D., additional, Reimand, Jüri, additional, Goldenberg, Anna, additional, Ramaswamy, Vijay, additional, and Taylor, Michael D., additional
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- 2017
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27. Current therapy and the evolving molecular landscape of paediatric ependymoma
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Khatua, Soumen, primary, Ramaswamy, Vijay, additional, and Bouffet, Eric, additional
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- 2017
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28. Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors
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Torchia, Jonathon, primary, Golbourn, Brian, additional, Feng, Shengrui, additional, Ho, King Ching, additional, Sin-Chan, Patrick, additional, Vasiljevic, Alexandre, additional, Norman, Joseph D., additional, Guilhamon, Paul, additional, Garzia, Livia, additional, Agamez, Natalia R., additional, Lu, Mei, additional, Chan, Tiffany S., additional, Picard, Daniel, additional, de Antonellis, Pasqualino, additional, Khuong-Quang, Dong-Anh, additional, Planello, Aline C., additional, Zeller, Constanze, additional, Barsyte-Lovejoy, Dalia, additional, Lafay-Cousin, Lucie, additional, Letourneau, Louis, additional, Bourgey, Mathieu, additional, Yu, Man, additional, Gendoo, Deena M.A., additional, Dzamba, Misko, additional, Barszczyk, Mark, additional, Medina, Tiago, additional, Riemenschneider, Alexandra N., additional, Morrissy, A. Sorana, additional, Ra, Young-Shin, additional, Ramaswamy, Vijay, additional, Remke, Marc, additional, Dunham, Christopher P., additional, Yip, Stephen, additional, Ng, Ho-keung, additional, Lu, Jian-Qiang, additional, Mehta, Vivek, additional, Albrecht, Steffen, additional, Pimentel, Jose, additional, Chan, Jennifer A., additional, Somers, Gino R., additional, Faria, Claudia C., additional, Roque, Lucia, additional, Fouladi, Maryam, additional, Hoffman, Lindsey M., additional, Moore, Andrew S., additional, Wang, Yin, additional, Choi, Seung Ah, additional, Hansford, Jordan R., additional, Catchpoole, Daniel, additional, Birks, Diane K., additional, Foreman, Nicholas K., additional, Strother, Doug, additional, Klekner, Almos, additional, Bognár, Laszló, additional, Garami, Miklós, additional, Hauser, Péter, additional, Hortobágyi, Tibor, additional, Wilson, Beverly, additional, Hukin, Juliette, additional, Carret, Anne-Sophie, additional, Van Meter, Timothy E., additional, Hwang, Eugene I., additional, Gajjar, Amar, additional, Chiou, Shih-Hwa, additional, Nakamura, Hideo, additional, Toledano, Helen, additional, Fried, Iris, additional, Fults, Daniel, additional, Wataya, Takafumi, additional, Fryer, Chris, additional, Eisenstat, David D., additional, Scheinemann, Katrin, additional, Fleming, Adam J., additional, Johnston, Donna L., additional, Michaud, Jean, additional, Zelcer, Shayna, additional, Hammond, Robert, additional, Afzal, Samina, additional, Ramsay, David A., additional, Sirachainan, Nongnuch, additional, Hongeng, Suradej, additional, Larbcharoensub, Noppadol, additional, Grundy, Richard G., additional, Lulla, Rishi R., additional, Fangusaro, Jason R., additional, Druker, Harriet, additional, Bartels, Ute, additional, Grant, Ronald, additional, Malkin, David, additional, McGlade, C. Jane, additional, Nicolaides, Theodore, additional, Tihan, Tarik, additional, Phillips, Joanna, additional, Majewski, Jacek, additional, Montpetit, Alexandre, additional, Bourque, Guillaume, additional, Bader, Gary D., additional, Reddy, Alyssa T., additional, Gillespie, G. Yancey, additional, Warmuth-Metz, Monika, additional, Rutkowski, Stefan, additional, Tabori, Uri, additional, Lupien, Mathieu, additional, Brudno, Michael, additional, Schüller, Ulrich, additional, Pietsch, Torsten, additional, Judkins, Alexander R., additional, Hawkins, Cynthia E., additional, Bouffet, Eric, additional, Kim, Seung-Ki, additional, Dirks, Peter B., additional, Taylor, Michael D., additional, Erdreich-Epstein, Anat, additional, Arrowsmith, Cheryl H., additional, De Carvalho, Daniel D., additional, Rutka, James T., additional, Jabado, Nada, additional, and Huang, Annie, additional
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- 2016
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29. Proton beam therapy for medulloblastoma
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Ramaswamy, Vijay, primary and Bouffet, Eric, additional
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- 2016
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30. Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis
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Thompson, Eric M, primary, Hielscher, Thomas, additional, Bouffet, Eric, additional, Remke, Marc, additional, Luu, Betty, additional, Gururangan, Sridharan, additional, McLendon, Roger E, additional, Bigner, Darell D, additional, Lipp, Eric S, additional, Perreault, Sebastien, additional, Cho, Yoon-Jae, additional, Grant, Gerald, additional, Kim, Seung-Ki, additional, Lee, Ji Yeoun, additional, Rao, Amulya A Nageswara, additional, Giannini, Caterina, additional, Li, Kay Ka Wai, additional, Ng, Ho-Keung, additional, Yao, Yu, additional, Kumabe, Toshihiro, additional, Tominaga, Teiji, additional, Grajkowska, Wieslawa A, additional, Perek-Polnik, Marta, additional, Low, David C Y, additional, Seow, Wan Tew, additional, Chang, Kenneth T E, additional, Mora, Jaume, additional, Pollack, Ian F, additional, Hamilton, Ronald L, additional, Leary, Sarah, additional, Moore, Andrew S, additional, Ingram, Wendy J, additional, Hallahan, Andrew R, additional, Jouvet, Anne, additional, Fèvre-Montange, Michelle, additional, Vasiljevic, Alexandre, additional, Faure-Conter, Cecile, additional, Shofuda, Tomoko, additional, Kagawa, Naoki, additional, Hashimoto, Naoya, additional, Jabado, Nada, additional, Weil, Alexander G, additional, Gayden, Tenzin, additional, Wataya, Takafumi, additional, Shalaby, Tarek, additional, Grotzer, Michael, additional, Zitterbart, Karel, additional, Sterba, Jaroslav, additional, Kren, Leos, additional, Hortobágyi, Tibor, additional, Klekner, Almos, additional, László, Bognár, additional, Pócza, Tímea, additional, Hauser, Peter, additional, Schüller, Ulrich, additional, Jung, Shin, additional, Jang, Woo-Youl, additional, French, Pim J, additional, Kros, Johan M, additional, van Veelen, Marie-Lise C, additional, Massimi, Luca, additional, Leonard, Jeffrey R, additional, Rubin, Joshua B, additional, Vibhakar, Rajeev, additional, Chambless, Lola B, additional, Cooper, Michael K, additional, Thompson, Reid C, additional, Faria, Claudia C, additional, Carvalho, Alice, additional, Nunes, Sofia, additional, Pimentel, José, additional, Fan, Xing, additional, Muraszko, Karin M, additional, López-Aguilar, Enrique, additional, Lyden, David, additional, Garzia, Livia, additional, Shih, David J H, additional, Kijima, Noriyuki, additional, Schneider, Christian, additional, Adamski, Jennifer, additional, Northcott, Paul A, additional, Kool, Marcel, additional, Jones, David T W, additional, Chan, Jennifer A, additional, Nikolic, Ana, additional, Garre, Maria Luisa, additional, Van Meir, Erwin G, additional, Osuka, Satoru, additional, Olson, Jeffrey J, additional, Jahangiri, Arman, additional, Castro, Brandyn A, additional, Gupta, Nalin, additional, Weiss, William A, additional, Moxon-Emre, Iska, additional, Mabbott, Donald J, additional, Lassaletta, Alvaro, additional, Hawkins, Cynthia E, additional, Tabori, Uri, additional, Drake, James, additional, Kulkarni, Abhaya, additional, Dirks, Peter, additional, Rutka, James T, additional, Korshunov, Andrey, additional, Pfister, Stefan M, additional, Packer, Roger J, additional, Ramaswamy, Vijay, additional, and Taylor, Michael D, additional
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- 2016
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31. Fall of the Optical Wall: Freedom from the Tyranny of the Microscope Improves Glioma Risk Stratification
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Ramaswamy, Vijay, primary and Taylor, Michael D., additional
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- 2016
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32. Fingering the Correct Culprit: NonRANdom Target Selection for Therapy of Neuroblastoma
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Ramaswamy, Vijay, primary and Taylor, Michael D., additional
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- 2015
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33. The Amazing and Deadly Glioma Race
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Ramaswamy, Vijay, primary and Taylor, Michael D., additional
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- 2015
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34. Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups
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Pajtler, Kristian W., primary, Witt, Hendrik, additional, Sill, Martin, additional, Jones, David T.W., additional, Hovestadt, Volker, additional, Kratochwil, Fabian, additional, Wani, Khalida, additional, Tatevossian, Ruth, additional, Punchihewa, Chandanamali, additional, Johann, Pascal, additional, Reimand, Jüri, additional, Warnatz, Hans-Jörg, additional, Ryzhova, Marina, additional, Mack, Steve, additional, Ramaswamy, Vijay, additional, Capper, David, additional, Schweizer, Leonille, additional, Sieber, Laura, additional, Wittmann, Andrea, additional, Huang, Zhiqin, additional, van Sluis, Peter, additional, Volckmann, Richard, additional, Koster, Jan, additional, Versteeg, Rogier, additional, Fults, Daniel, additional, Toledano, Helen, additional, Avigad, Smadar, additional, Hoffman, Lindsey M., additional, Donson, Andrew M., additional, Foreman, Nicholas, additional, Hewer, Ekkehard, additional, Zitterbart, Karel, additional, Gilbert, Mark, additional, Armstrong, Terri S., additional, Gupta, Nalin, additional, Allen, Jeffrey C., additional, Karajannis, Matthias A., additional, Zagzag, David, additional, Hasselblatt, Martin, additional, Kulozik, Andreas E., additional, Witt, Olaf, additional, Collins, V. Peter, additional, von Hoff, Katja, additional, Rutkowski, Stefan, additional, Pietsch, Torsten, additional, Bader, Gary, additional, Yaspo, Marie-Laure, additional, von Deimling, Andreas, additional, Lichter, Peter, additional, Taylor, Michael D., additional, Gilbertson, Richard, additional, Ellison, David W., additional, Aldape, Kenneth, additional, Korshunov, Andrey, additional, Kool, Marcel, additional, and Pfister, Stefan M., additional
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- 2015
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35. Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis
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Ramaswamy, Vijay, primary, Remke, Marc, additional, Bouffet, Eric, additional, Faria, Claudia C, additional, Perreault, Sebastien, additional, Cho, Yoon-Jae, additional, Shih, David J, additional, Luu, Betty, additional, Dubuc, Adrian M, additional, Northcott, Paul A, additional, Schüller, Ulrich, additional, Gururangan, Sridharan, additional, McLendon, Roger, additional, Bigner, Darell, additional, Fouladi, Maryam, additional, Ligon, Keith L, additional, Pomeroy, Scott L, additional, Dunn, Sandra, additional, Triscott, Joanna, additional, Jabado, Nada, additional, Fontebasso, Adam, additional, Jones, David T W, additional, Kool, Marcel, additional, Karajannis, Matthias A, additional, Gardner, Sharon L, additional, Zagzag, David, additional, Nunes, Sofia, additional, Pimentel, José, additional, Mora, Jaume, additional, Lipp, Eric, additional, Walter, Andrew W, additional, Ryzhova, Marina, additional, Zheludkova, Olga, additional, Kumirova, Ella, additional, Alshami, Jad, additional, Croul, Sidney E, additional, Rutka, James T, additional, Hawkins, Cynthia, additional, Tabori, Uri, additional, Codispoti, Kari-Elise T, additional, Packer, Roger J, additional, Pfister, Stefan M, additional, Korshunov, Andrey, additional, and Taylor, Michael D, additional
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- 2013
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36. Rearrangement of Chromosome 14q with Associated White Matter Disease
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Ramaswamy, Vijay, primary, Jacob, François Dominique, additional, and Bolduc, François V., additional
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- 2011
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37. Developmental Disability: Duplication of Zinc Finger Transcription Factors 673 and 674
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Ramaswamy, Vijay, primary, Castillo, Mauricio, additional, and Bolduc, Francois V., additional
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- 2010
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38. Systematic Review of Biomarkers of Brain Injury in Term Neonatal Encephalopathy
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Ramaswamy, Vijay, primary, Horton, Jennifer, additional, Vandermeer, Ben, additional, Buscemi, Nina, additional, Miller, Steven, additional, and Yager, Jerome, additional
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- 2009
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39. Epilepsia Partialis Continua: Acute Disseminated Encephalomyelitis or Rasmussen’s Encephalitis?
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Ramaswamy, Vijay, primary, Sinclair, D. Barry, additional, Wheatley, B. Matt, additional, Richer, Lawrence, additional, and Snyder, Thomas, additional
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- 2005
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40. Trends in severe brain injury and neurodevelopmental outcome in premature newborn infants: The role of cystic periventricular leukomalacia
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Hamrick, Shannon E.G., primary, Miller, Steven P., additional, Leonard, Carol, additional, Glidden, David V., additional, Goldstein, Ruth, additional, Ramaswamy, Vijay, additional, Piecuch, Robert, additional, and Ferriero, Donna M., additional
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- 2004
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41. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
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Waszak, Sebastian M, Northcott, Paul A, Buchhalter, Ivo, Robinson, Giles W, Sutter, Christian, Groebner, Susanne, Grund, Kerstin B, Brugières, Laurence, Jones, David TW, Pajtler, Kristian W, Morrissy, A Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R, Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A, Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W, Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young-Shin, Zitterbart, Karel, Shringarpure, Suyash S, De La Vega, Francisco M, Bustamante, Carlos D, Ng, Ho-Keung, Perry, Arie, MacDonald, Tobey J, Hernáiz Driever, Pablo, Bendel, Anne E, Bowers, Daniel C, McCowage, Geoffrey, Chintagumpala, Murali M, Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V, Röösli, Martin, Kuehni, Claudia E, Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M, Archer, Tenley C, Duke, Elizabeth, Pomeroy, Scott L, Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V, Milde, Till, Kratz, Christian P, Samuel, David, Zhang, Jinghui, Solomon, David A, Marra, Marco, Eils, Roland, Bartram, Claus R, Von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J, Korshunov, Andrey, Taylor, Michael D, Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O, and Pfister, Stefan M
- Subjects
Adult ,Male ,Heredity ,Adolescent ,DNA Mutational Analysis ,Young Adult ,Predictive Value of Tests ,Risk Factors ,Exome Sequencing ,Biomarkers, Tumor ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Prospective Studies ,Cerebellar Neoplasms ,Child ,Germ-Line Mutation ,Retrospective Studies ,Models, Genetic ,Gene Expression Profiling ,Infant ,Reproducibility of Results ,DNA Methylation ,Progression-Free Survival ,3. Good health ,Pedigree ,Phenotype ,Child, Preschool ,Female ,Transcriptome ,Medulloblastoma - Abstract
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. FINDINGS: We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. INTERPRETATION: Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. FUNDING: German Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario.
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