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2. Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

Author

Ryl, Tatsiana, Afanasyeva, Elena, Hartmann, Till, Schwermer, Melanie, Schneider, Markus, Schröder, Christopher, Wagemanns, Maren, Bister, Arthur, Kanber, Deniz, Steenpass, Laura, Schramm, Kathrin, Jones, Barbara, Jones, David T. W., Biewald, Eva, Astrahantseff, Kathy, Hanenberg, Helmut, Rahmann, Sven, Lohmann, Dietmar R., Schramm, Alexander, and Ketteler, Petra

Published
2024
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3. A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

Author

Ryl, Tatsiana, Afanasyeva, Elena, Hartmann, Till, Schwermer, Melanie, Schneider, Markus, Schröder, Christopher, Wagemanns, Maren, Bister, Arthur, Kanber, Deniz, Steenpass, Laura, Schramm, Kathrin, Jones, Barbara, Jones, David T. W., Biewald, Eva, Astrahantseff, Kathy, Hanenberg, Helmut, Rahmann, Sven, Lohmann, Dietmar R., Schramm, Alexander, and Ketteler, Petra

Published
2024
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4. Retrospective comparative analysis of two medical evacuation systems for Ukrainian patients affected by war

Author

Adyrov, Mykhaylo V, Alanbousi, Inna, Alexander, Sarah Weeks, Apel, Anna, Avula, Meghana, Bal, Wioletta Anna, Balwierz, Walentyna Aniela, Basset-Salom, Luisa, Bastardo Blanco, Daniel, Bauer, Karolina Jadwiga, Bayazitov, Ildar T, Berlanga, Pablo, Bhakta, Nickhill Hitesh, Bieniek, Katarzyna Anna, Bien, Ewa Iwona, Blackwood, Christopher Andrew, Blair, Sally Jane, Bodak, Khrystyna Ihorivna, Bordeianu, Irina, Bouffet, Eric Eric, Braganca, Joao Maria, Bucurenci, Mihaela Silvia, Budny, Elżbieta Beata, Budzyn, Andrii, Bumgardner, Christopher Carl, Burditt, Raina Nichole, Burnside Clapp, Victoria, Bykov, Viacheslav Valeriyovych, Cañete, Adela, Carnelli, Monica, Cela, Elena, Cepowska, Zuzanna, Chaber, Radoslaw, Cherner-Drieux, Anna, Chubata, Mariya, Clough, Heidi M, Czauderna, Piotr Stefan, Czernicka - Siwecka, Jolanta, Czyzewski, Krzysztof, Dalle, Jean-Hugues, Dashchakovska, Olha, de Koning, Linda A, Dembowska-Baginska, Bozenna Malgorzata, Derwich, Katarzyna, Dirksen, Uta, Dommett, Rachel, Dorosh, Olha Ihorivna, dos Reis Farinha, Nuno Jorge, Drabko, Katarzyna Anna, Dragomir, Monica Desiree, Dutkiewicz, Malgorzata, Dworzak, Michael, Dyma, Sergii Vitaliiovych, Earl, Julian, Eggert, Angelika, English, Martin William, Farren, Becky S, Fedyk, Nataliia Yuriina, Fernández-Teijeiro, Ana, Ferneza, Severyn Romanovych, Foster, Whitney Baer, Fox Irwin, Leeanna Elizabeth, Gałązkowski, Robert Maciej, Ganieva, Galyna, Garanzha, Vasylyna Andriivna, Gelman, Marina S, Godzinski, Jan Krzysztof, Goeres, Anne Françoise, Golban, Rodica, Graetz, Dylan Elizabeth, Greiner, Jeanette, Griksaitis, Michael J, Gupta, Sumit, Hampel, Michal Andrzej, Hastings, Sara Grace, Heenen, Delphine Liliane, Hill, Marcela C, Holiuk, Ihor, Holter, Wolfgang, Hough, Rachael Emma, Hutnik, Lukasz Marek, Irga-Jaworska, Ninela, Istomin, Oleksandr Andriyovych, Ignatova, Anna, Janczar, Szymon Lech, Kacharian, Arman, Kalwak, Krzysztof, Karolczyk, Grażyna Małgorzata, Karpenko, Nataliia Mikolaivna, Katsubo, Halyna Oleksandrivna, Kattamis, Antonis, Kazanowska, Bernarda Jadwiga, Kentsis, Alex, Ketteler, Petra, Kienesberger, Anita, Kiselev, Roman, Kizyma, Zoryana Petrivna, Kliuchkivska, Khrystyna, Klymniuk, Hryhorii Ivanovych, Kolenova, Alexandra, Kolodrubiec, Julia, Kostiuk, Yuliia, Kowalik, Tomasz, Kozlova, Olena Igorivna, Kozubenko, Vladyslav, Kraal, Kathelijne, Kramar, Tetyana Oleksandrivna, Krawczuk-Rybak, Maryna Maryna, Kulemzina, Irina, Kurkowska, Paulina, Kuzyk, Andriy S., Ladenstein, Ruth Lydia, Laguna, Pawel Jozef, Lassaletta, Alvaro, Lehmberg, Kai, Leontieva, Oksana, Liashenko, Serhii, Loizou, Loizos G., Lucchetta, Sonia Anna, Lupo, Matthew William, Lysytsia, Lesya, Lysytsia, Oleksandr, Machnik, Katarzyna Anna, Massimino, Maura, Mainland, Jeff A, Matczak, Katarzyna, Matysiak, Michal Jacek, Mayeur, Pierre, Miller, Beth Anne, Minervina, Anastasia A, Mishkova, Volha, Mizia-Malarz, Agnieszka Joanna, Morales La Madrid, Andres, Moreira, Daniel C, Moreno, Lucas, Moskvin, Vadim P, Mukkada, Sheena Teresa, Muszyńska-Rosłan, Katarzyna Maria, Mykychak, Iryna Volodymyrivna, Niemeyer, Charlotte, Nelson, Akoya Janae', Nogovitsyna, Yuliya, Ociepa, Tomasz, Oltolini, Stefano, Onipko, Nataliia, Pappas, Andrew, Patel, Amit B, Patrahau, Alina Alina, Pauley, Jennifer L., Pavlenko, Yehor Mikhailovich, Pavlovych, Andrij Oleksandrovych, Peregud-Pogorzelski, Jarosław Władyslaw, Perek-Polnik, Marta, Pérez, Vanesa, Pérez-Martínez, Antonio, Pikman, Yana, Pitozzi, Graziano Pitozzi, Portugal, Rui Gentil, Posternak, Victoria Vita, Pleshkan, Viktoriya, Prete, Arcangelo, Pritchard-Jones, Kathy, Raciborska, Anna, Radaelli, Alessandra, Reeves, Tegan Jemma, Reinhardt, Dirk, Reshetnyak, Andrey V, Rider, Andrew Jacob, Rizzari, Carmelo, Rizzi, Damiano Damiano, Rodriguez Hermosillo, Karen Gabriela, Ronenko, Olena Volodymyrivna, Rostkowska, Aneta Olga, Rudko, Liudmyla Yaroslavivna, Sakaan, Firas Mohamed, Sakhar, Nadezhda Aleksandrovna, Salman, Zeena S, Savva, Natallia N., Scaccaglia, Davide, Schaeffer, Elizabeth Hawthorne, Schneider, Carina Ursula, Scobie, Nicole, Semeniuk, Olena Volodymyrivna, Shevchyk, Roksoliana, Shuler, Ana I., Shvets, Stanislav, Sniderman, Liz, Skoczen, Szymon Pawel, Smeal, William John, Sokolowski, Igor, Sonkin, Anna Alexandra, Spolinyak, Andriy, Spota, Andrea, Sramkova, Lucie, Stepanjuk, Alla Ivanivna, Sterba, Jaroslav, Strahm, Brigitte, Styczynski, Jan, Svintsova, Olha, Synyuta, Andriy V, Szczepanski, Tomasz, Szczucinski, Pawel Kukiz, Szmyd, Bartosz Miroslaw, Tasso Cereceda, Maria, Teliuk, Alina, Tomanek, Iwona, Topping, Phoebe, Torrent, Montserrat, Trelińska, Joanna, Troyanovska, Olha Orestivna, Tsurkan, Lyudmila G., Tsymbalyuk-Voloshyn, Iryna, Tyupa, Sergiy Ihorovych, Urasinski, Tomasz Franciszek, Urbanek Dądela, Agnieszka, Vasilieva, Nataliia Jroslavivna, Vasilyeva, Aksana, Verdú-Amorós, Jaime, Vilcu-Bajurean, Natalia, Vinitsky, Leo, Vivtcharenko, Victoria, Vovk, Nelia, Volpe, Giovanni, Vorobel, Oksana Ivanivna, Wachowiak, Jacek Tadeusz, Wasiak, Marcin Slawomir, Wiedower, Lance Allan, Wobst, Natalia, Wuenschel, Lena Isolde, Wysocki, Mariusz Stanislaw, Yurieva, Marina, Zagurska, Anastasiia, Zakharenko, Stanislav S, Zakharenko, Aelita V, Zapotochna, Khrystyna, Zawitkowska, Joanna Emilia, Zecca, Marco, Mueller, Alexandra, Salek, Marta, Oszer, Aleksandra, Evseev, Dmitry, Yakimkova, Taisiya, Wlodarski, Marcin, Vinitsky, Anna, Kizyma, Roman, Pogorelyy, Mikhail, Zuber, Maria, Escalante, Juan, Lipska, Elzbieta, Fendler, Wojciech, Nowicka, Zuzanna, Szyszka, Adam, Rodriguez-Galindo, Carlos, Wise, Paul H., Agulnik, Asya, and Mlynarski, Wojciech

Published
2024
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7. Targeted therapies in retinoblastoma: GD2-directed immunotherapy following autologous stem cell transplantation and evaluation of alternative target B7-H3

Author

Eichholz, Thomas, Heubach, Florian, Arendt, Anne-Marie, Seitz, Christian, Brecht, Ines B., Ebinger, Martin, Flaadt, Tim, Süsskind, Daniela, Richter, Lisa, Hülsenbeck, Isabel, Zerweck, Leonie, Göricke, Sophia, Paulsen, Frank, Dombrowski, Frank, Flotho, Christian, Schönberger, Stefan, Ketteler, Petra, Schulte, Johannes, and Lang, Peter

Published
2024
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9. Adjuvant therapy for children treated by enucleation at diagnosis of retinoblastoma

Author

Diarra, Yelena, Brockmeyer, Christina, Fischhuber, Karen, Hülsenbeck, Isabel, Ting, Saskia, Reschke, Madlen, Kiefer, Tobias, Hannbücken, Anna, Wagemanns, Maren, Jabbarli, Leyla, Sirin, Selma, Wieland, Regina, Fleischhack, Gudrun, Schulte, Johannes H., Ebinger, Martin, Lohmann, Dietmar, Müller, Bert, Süsskind, Daniela, Schwab, Christoph, Brecht, Ines, Eggert, Angelika, Schönberger, Stefan, Ritter-Sovinz, Petra, Bechrakis, Nikolaos, Göricke, Sophia, Timmermann, Beate, Biewald, Eva, and Ketteler, Petra

Published
2023
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10. The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries

Author

Fabian, Ido Didi, Abdallah, Elhassan, Abdullahi, Shehu U, Abdulqader, Rula A, Abdulrahaman, Aminatu A, Abouelnaga, Sherif, Ademola-Popoola, Dupe S, Adio, Adedayo, Afifi, Mahmoud A, Afshar, Armin R, Aggarwal, Priyanka, Aghaji, Ada E, Ahmad, Alia, Akib, Marliyanti NR, Akinsete, Adeseye, Al Harby, Lamis, Al Mesfer, Saleh, Al Ani, Mouroge H, Alarcón Portabella, Silvia, Al-Badri, Safaa AF, Alcasabas, Ana Patricia A, Al-Dahmash, Saad A, Alejos, Amanda, Alemany-Rubio, Ernesto, Alfa Bio, Amadou I, Alfonso Carreras, Yvania, Al-Haddad, Christiane E, Al-Hussaini, Hamoud HY, Ali, Amany M, Alia, Donjeta B, Al-Jadiry, Mazin F, Al-Jumaily, Usama, Alkatan, Hind M, All-Eriksson, Charlotta, Al-Mafrachi, Ali ARM, Almeida, Argentino A, Alsawidi, Khalifa M, Al-Shaheen, Athar ASM, Al-Shammary, Entissar H, Amankwaa-Frempong, Doreen, Amiruddin, Primawita O, Armytasari, Inggar, Astbury, Nicholas J, Atalay, Hatice T, Ataseven, Eda, Atchaneeyasakul, La-ongsri, Atsiaya, Rose, Autrata, Rudolf, Balaguer, Julia, Balayeva, Ruhengiz, Barranco, Honorio, Bartoszek, Paulina, Bartuma, Katarina, Bascaran, Covadonga, Bechrakis, Nikolaos E, Beck Popovic, Maja, Begimkulova, Ainura S, Benmiloud, Sarra, Berete, Rokia C, Berry, Jesse L, Bhaduri, Anirban, Bhat, Sunil, Bhattacharyya, Arpita, Biewald, Eva M, Binkley, Elaine, Blum, Sharon, Bobrova, Nadia, Boldt, H.C., Bonanomi, Maria Teresa BC, Bouda, Gabrielle C, Bouguila, Hédi, Brennan, Rachel C, Brichard, Bénédicte G, Buaboonnam, Jassada, Budiongo, Aléine, Burton, Matthew J, Calderón-Sotelo, Patricia, Calle Jara, Doris A, Camuglia, Jayne E, Cano, Miriam R, Capra, Michael, Caspi, Shani, Cassoux, Nathalie, Castela, Guilherme, Castillo, Luis, Català-Mora, Jaume, Cavieres, Isabel, Chandramohan, Arthika, Chantada, Guillermo L, Chaudhry, Shabana, Chawla, Bhavna, Chen, Wensi, Chiwanga, Faraja S, Chuluunbat, Tsengelmaa, Cieslik, Krzysztof, Clark, Antony, Cockcroft, Ruellyn L, Comsa, Codruta, Correa Llano, Maria G, Corson, Timothy W, Couitchere, Line, Cowan-Lyn, Kristin E, Csóka, Monika, Dangboon, Wantanee, Das, Anirban, Das, Pranab, Das, Sima, Davanzo, Jacquelyn M, Davidson, Alan, De Francesco, Sonia, De Potter, Patrick, Quintero D, Karina, Demirci, Hakan, Desjardins, Laurence, Díaz Coronado, Rosdali Y, Dimaras, Helen, Dodgshun, Andrew J, Donato Macedo, Carla R, Dragomir, Monica D, Du, Yi, Du Bruyn, Magritha, Du Plessis, Johannes, Dudeja, Gagan, Eerme, Katrin, Eka Sutyawan, I Wayan, El Kettani, Asmaa, Elbahi, Amal M, Elder, James E, Elhaddad, Alaa M, Elhassan, Moawia MA, Elzembely, Mahmoud M, Ericksen, Connor, Essuman, Vera A, Evina, Ted Grimbert A, Ezegwui, Ifeoma R, Fadoo, Zehra, Fandiño, Adriana C, Faranoush, Mohammad, Fasina, Oluyemi, Fernández, Delia DPG, Fernández-Teijeiro, Ana, Foster, Allen, Frenkel, Shahar, Fu, Ligia D, Fuentes-Alabi, Soad L, Garcia, Juan L, García Aldana, David, Garcia Pacheco, Henry N, Geel, Jennifer A, Ghassemi, Fariba, Girón, Ana V, Goenz, Marco A, Gold, Aaron S, Goldberg, Hila, Gole, Glen A, Gomel, Nir, Gonzalez, Efren, Gonzalez Perez, Graciela, González-Rodríguez, Liudmira, Gorfine, Malka, Graells, Jaime, Gregersen, Pernille A, Grigorovski, Nathalia DAK, Guedenon, Koffi M, Gunasekera, D Sanjeeva, Gündüz, Ahmet K, Gupta, Himika, Gupta, Sanjiv, Gupta, Vineeta, Hadjistilianou, Theodora, Hamel, Patrick, Hamid, Syed A, Hamzah, Norhafizah, Hansen, Eric D, Harbour, J William, Hartnett, M. Elizabeth, Hasanreisoglu, Murat, Muhammad, Hassan, Hassan, Sadiq, Hassan, Shadab, Hautz, Wojciech, Haydar, Huda, Hederova, Stanislava, Hessissen, Laila, Hongeng, Suradej, Hordofa, Diriba F, Hubbard, G. Baker, Hummelen, Marlies, Husakova, Kristina, Hussein Al-Janabi, Allawi N, Ibanga, Affiong, Ida, Russo, Ilic, Vesna R, Islamov, Ziyavuddin, Jairaj, Vivekaraj, Janjua, Teyyeb, Jeeva, Irfan, Ji, Xunda, Jo, Dong Hyun, Jones, Michael M, Kabesha Amani, Theophile B, Kabore, Rolande L, Kaliki, Swathi, Kalinaki, Abubakar, Kamsang, Pius, Kantar, Mehmet, Kapelushnik, Noa, Kardava, Tamar, Kebudi, Rejin, Keomisy, Jonny, Kepak, Tomas, Ketteler, Petra, Khan, Zohora J, Khaqan, Hussain A, Khetan, Vikas, Khodabande, Alireza, Khotenashvili, Zaza, Kim, Jonathan W, Kim, Jeong Hun, Kiratli, Hayyam, Kivela, Tero T., Klett, Artur, Koç, Irem, Kosh Komba Palet, Jess Elio, Krivaitiene, Dalia, Kruger, Mariana, Kulvichit, Kittisak, Kuntorini, Mayasari W, Kyara, Alice, Lam, Geoffrey C, Larson, Scott A, Latinović, Slobodanka, Laurenti, Kelly D, Lavy, Yotam, Lavric Groznik, Alenka, Leverant, Amy A, Li, Cairui, Li, Kaijun, Limbu, Ben, Liu, Chun-Hsiu, Quah, BoonLong, López, Juan P, Lukamba, Robert M, Luna-Fineman, Sandra, Lutfi, Delfitri, Lysytsia, Lesia, Madgar, Shiran, Magrath, George N, Mahajan, Amita, Maitra, Puja, Maka, Erika, Makimbetov, Emil K, Maktabi, Azza, Maldonado, Carlos, Mallipatna, Ashwin, Manudhane, Rebecca, Manzhuova, Lyazat, Martín-Begue, Nieves, Masud, Sidra, Matende, Ibrahim O, Mattosinho, Clarissa CDS, Matua, Marchelo, Mayet, Ismail, Mbumba, Freddy B, McKenzie, John D, Mehrvar, Azim, Mengesha, Aemero A, Menon, Vikas, Mercado, Gary John V, Mets, Marilyn B, Midena, Edoardo, Miller, Audra, Mishra, Divyansh KC, Mndeme, Furahini G, Mohamedani, Ahmed A, Mohammad, Mona T, Moll, Annette C, Montero, Margarita M, Moreira, Claude, Mruthyunjaya, Prithvi, Msina, Mchikirwa S, Msukwa, Gerald, Mudaliar, Sangeeta S, Muma, Kangwa I M, Munier, Francis L, Murray, Timothy G, Musa, Kareem O, Mushtaq, Asma, Musika, Anne A, Mustak, Hamzah, Mustapha, Tajudeen, Muyen, Okwen M, Myezo, Khumo H, Naidu, Gita, Naidu, Natasha, Nair, Akshay Gopinathan, Natarajan, Sundaram, Naumenko, Larisa, Ndoye Roth, Paule Aïda, Nency, Yetty M, Neroev, Vladimir, Ng, Yvonne, Nikitovic, Marina, Nkanga, Elizabeth D, Nkumbe, Henry E, Numbi, Marcel N, Nummi, Kalle, Nuruddin, Murtuza, Nyaywa, Mutale, Nyirenda, Chinsisi, Obono-Obiang, Ghislaine, Oliver, Scott CN, Oporto, Joaquin, Ortega-Hernández, Miriam, Oscar, Alexander H, Ossandon, Diego, Pagarra, Halimah, Paintsil, Vivian, Paiva, Luisa, Palanivelu, Mahesh Shanmugam, Papyan, Ruzanna, Parrozzani, Raffaele, Pascual Morales, Claudia R, Paton, Katherine E, Pe'er, Jacob, Peralta Calvo, Jesús, Perić, Sanja, Pham, Chau TM, Philbert, Remezo, Plager, David A, Pochop, Pavel, Polania, Rodrigo A., Polyakov, Vladimir, Ponce, Jimena, Qadir, Ali O, Qayyum, Seema, Qian, Jiang, Refaeli, David, Rahman, Ardizal, Rajkarnikar, Purnima, Ramanjulu, Rajesh, Ramasubramanian, Aparna, Ramirez-Ortiz, Marco A, Randhawa, Jasmeen K, Randrianarisoa, Hoby Lalaina, Raobela, Léa, Rashid, Riffat, Reddy, M.A., Renner, Lorna A, Reynders, David, Ribadu, Dahiru, Ritter-Sovinz, Petra, Rogowska, Anna, Rojanaporn, Duangnate, Romero, Livia, Roy, Soma R, Saab, Raya H, Saakyan, Svetlana, Sabhan, Ahmed H, Sagoo, Mandeep S, Said, Azza MA, Saiju, Rohit, Salas, Beatriz, San Román Pacheco, Sonsoles, Sánchez, Gissela L, Sanchez Orozco, Alma Janeth, Sayalith, Phayvanh, Scanlan, Trish A, Schlüter, Sabrina, Schwab, Christoph, Sedaghat, Ahad, Seth, Rachna, Sgroi, Mariana, Shah, Ankoor S, Shakoor, Shawkat A, Sharma, Manoj K, Sherief, Sadik T, Shields, Carol L, Sia, David, Siddiqui, Sorath Noorani, Sidi cheikh, Sidi, Silva, Sónia, Singh, Arun D, Singh, Usha, Singha, Penny, Sitorus, Rita S, Skalet, Alison H, Soebagjo, Hendrian D, Sorochynska, Tetyana, Ssali, Grace, Stacey, Andrew W, Staffieri, Sandra E, Stahl, Erin D, Steinberg, David M, Stones, David K, Strahlendorf, Caron, Suarez, Maria Estela Coleoni, Sultana, Sadia, Sun, Xiantao, Superstein, Rosanne, Supriyadi, Eddy, Surukrattanaskul, Supawan, Suzuki, Shigenobu, Svojgr, Karel, Sylla, Fatoumata, Tamamyan, Gevorg, Tan, Deborah, Tandili, Alketa, Tang, Jing, Tarrillo Leiva, Fanny F, Tashvighi, Maryam, Tateshi, Bekim, Teh, Kok Hoi, Tehuteru, Edi S, Teixeira, Luiz F, Tekavcic Pompe, Manca, Thawaba, Abdullah Dahan M, Theophile, Tuyisabe, Toledano, Helen, Trang, Doan L, Traoré, Fousseyni, Tripathy, Devjyoti, Tuncer, Samuray, Tyau-Tyau, Harba, Umar, Ali B, Unal, Emel, Uner, Ogul E, Urbak, Steen F, Ushakova, Tatiana L, Usmanov, Rustam H, Valeina, Sandra, Valente, Paola, van Hoefen Wijsard, Milo, Vasquez Anchaya, Jacqueline Karina, Vaughan, Leon O, Veleva-Krasteva, Nevyana V, Verma, Nishant, Victor, Andi A, Viksnins, Maris, Villacís Chafla, Edwin G, Villegas, Victor M, Vishnevskia-Dai, Victoria, Waddell, Keith, Wali, Amina H, Wang, Yi-Zhuo, Wangtiraumnuay, Nutsuchar, Wetter, Julie, Widiarti, Widiarti, Wilson, Matthew W, Wime, Amelia DC, Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Wolley Dod, Charlotte, Wong, Emily S, Wongwai, Phanthipha, Wu, Si-qi, Xiang, Daoman, Xiao, Yishuang, Xu, Bing, Xue, Kang, Yaghy, Antonio, Yam, Jason C, Yang, Huasheng, Yanga, Jenny M, Yaqub, Muhammad A, Yarovaya, Vera A, Yarovoy, Andrey A, Ye, Huijing, Yee, Roberto I, Yousef, Yacoub A, Yuliawati, Putu, Zapata López, Arturo M, Zein, Ekhtelbenina, Zhang, Yi, Zhilyaeva, Katsiaryna, Zia, Nida, Ziko, Othman AO, Zondervan, Marcia, and Bowman, Richard

Published
2022
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11. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, Jr, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Published
2022
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13. Estimation of radiation exposure of children undergoing superselective intra-arterial chemotherapy for retinoblastoma treatment: assessment of local diagnostic reference levels as a function of age, sex, and interventional success

Author

Opitz, Marcel, Bos, Denise, Deuschl, Cornelius, Radbruch, Alexander, Zensen, Sebastian, Sirin, Selma, Forsting, Michael, Bechrakis, Nikolaos, Biewald, Eva, Bornfeld, Norbert, Ketteler, Petra, Timmermann, Beate, Stuschke, Martin, Guberina, Maja, Wetter, Axel, Göricke, Sophia, and Guberina, Nika

Published
2021
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14. Präoperativer Nachweis der lokalen Tumorausdehnung bei Patienten mit fortgeschrittenem Retinoblastom: prädiktiver Wert MR-tomografischer und klinischer Befunde

Author

Jabbarli, Leyla, additional, Göricke, Sophia, additional, Stumbaum, Paulina, additional, Rating, Philipp, additional, Lever, Mael, additional, Kiefer, Tobias, additional, Ting, Saskia, additional, Junker, Andreas, additional, Bornfeld, Norbert, additional, Schoenberger, Stefan, additional, Bechrakis, Nikolaos E., additional, Ketteler, Petra, additional, and Biewald, Eva, additional

Published
2023
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15. Development of a centralised triage centre for children with cancer and blood disorders in response to the humanitarian crisis in Ukraine

Author

Salek, Marta, primary, Mueller, Alexandra, additional, Alanbousi, Inna, additional, Cepowska, Zuzanna, additional, Dutkiewicz, Malgorzata, additional, Earl, Julian, additional, Evseev, Dmitry, additional, Kizyma, Roman, additional, Kliuchkivska, Khrystyna, additional, Kolodrubiec, Julia, additional, Matczak, Katarzyna, additional, Nogovitsyna, Yuliya, additional, Oszer, Aleksandra, additional, Pogorelyy, Mikhail, additional, Raciborska, Anna, additional, Rasul, Suheir, additional, Sokolowski, Igor, additional, Sopilnyak, Andriy, additional, Vinitsky, Anna, additional, Wlodarski, Marcin W, additional, Wobst, Natalia, additional, Yakimkova, Taisiya, additional, Rodriguez-Galindo, Carlos, additional, Wise, Paul H, additional, Mlynarski, Wojciech, additional, Agulnik, Asya, additional, Alexander, Sarah Weeks, additional, Apel, Anna, additional, Adyrov, Mykhaylo V, additional, Avula, Meghana, additional, Bal, Wioletta Anna, additional, Balwierz, Walentyna Aniela, additional, Basset-Salom, Luisa, additional, Bastardo Blanco, Daniel, additional, Bauer, Karolina Jadwiga, additional, Bayazitov, Ildar T, additional, Berlanga, Pablo, additional, Bhakta, Nickhill Hitesh, additional, Bieniek, Katarzyna Anna, additional, Bien, Ewa Iwona, additional, Blackwood, Christopher Andrew, additional, Blair, Sally Jane, additional, Bodak, Khrystyna Ihorivna, additional, Bordeianu, Irina, additional, Bouffet, Eric, additional, Braganca, Joao Maria, additional, Bucurenci, Mihaela Silvia, additional, Budny, Elżbieta Beata, additional, Budzyn, Andrii, additional, Bumgardner, Christopher Carl, additional, Burditt, Raina Nichole, additional, Burnside Clapp, Victoria, additional, Bykov, Viacheslav Valeriyovych, additional, Cañete, Adela, additional, Carnelli, Monica, additional, Cela, Elena, additional, Chaber, Radoslaw, additional, Cherner-Drieux, Anna, additional, Chubata, Mariya, additional, Clough, Heidi M, additional, Czauderna, Piotr Stefan, additional, Czernicka - Siwecka, Jolanta, additional, Czyzewski, Krzysztof, additional, Dalle, Jean-Hugues, additional, Dashchakovska, Olha, additional, de Koning, Linda A, additional, Dembowska-Baginska, Bozenna Malgorzata, additional, Derwich, Katarzyna, additional, Dirksen, Uta, additional, Dommett, Rachel, additional, Dorosh, Olha Ihorivna, additional, dos Reis Farinha, Nuno Jorge, additional, Drabko, Katarzyna Anna, additional, Dragomir, Monica Desiree, additional, Dworzak, Michael, additional, Dyma, Sergii Vitaliiovych, additional, Eggert, Angelika, additional, English, Martin William, additional, Farren, Becky S, additional, Fedyk, Nataliia Yuriina, additional, Fernández-Teijeiro, Ana, additional, Ferneza, Severyn Romanovych, additional, Foster, Whitney Baer, additional, Fox Irwin, Leeanna Elizabeth, additional, Gałązkowski, Robert Maciej, additional, Ganieva, Galyna, additional, Garanzha, Vasylyna Andriivna, additional, Gelman, Marina S, additional, Godzinski, Jan Krzysztof, additional, Goeres, Anne Françoise, additional, Golban, Rodica, additional, Graetz, Dylan Elizabeth, additional, Greiner, Jeanette, additional, Griksaitis, Michael J, additional, Gupta, Sumit, additional, Hampel, Michal Andrzej, additional, Hastings, Sara Grace, additional, Heenen, Delphine Liliane, additional, Hill, Marcela C, additional, Holiuk, Ihor, additional, Holter, Wolfgang, additional, Hough, Rachael Emma, additional, Hutnik, Lukasz Marek, additional, Irga-Jaworska, Ninela, additional, Istomin, Oleksandr Andriyovych, additional, Ignatova, Anna, additional, Janczar, Szymon Lech, additional, Kacharian, Arman, additional, Kalwak, Krzysztof, additional, Karolczyk, Grażyna Małgorzata, additional, Karpenko, Nataliia Mikolaivna, additional, Katsubo, Halyna Oleksandrivna, additional, Kattamis, Antonis, additional, Kazanowska, Bernarda Jadwiga, additional, Kentsis, Alex, additional, Ketteler, Petra, additional, Kienesberger, Anita, additional, Kiselev, Roman, additional, Kizyma, Zoryana Petrivna, additional, Klymniuk, Hryhorii Ivanovych, additional, Kolenova, Alexandra, additional, Kostiuk, Yuliia, additional, Kowalik, Tomasz, additional, Kozlova, Olena Igorivna, additional, Kozubenko, Vladyslav, additional, Kraal, Kathelijne, additional, Kramar, Tetyana Oleksandrivna, additional, Krawczuk-Rybak, Maryna Maryna, additional, Kulemzina, Irina, additional, Kurkowska, Paulina, additional, Kuzyk, Andriy S., additional, Ladenstein, Ruth Lydia, additional, Laguna, Pawel Jozef, additional, Lassaletta, Alvaro, additional, Lehmberg, Kai, additional, Leontieva, Oksana, additional, Liashenko, Serhii, additional, Loizou, Loizos G., additional, Lucchetta, Sonia Anna, additional, Lupo, Matthew William, additional, Lysytsia, Lesya, additional, Lysytsia, Oleksandr, additional, Machnik, Katarzyna Anna, additional, Massimino, Maura, additional, Mainland, Jeff A, additional, Matysiak, Michal Jacek, additional, Mayeur, Pierre, additional, Miller, Beth Anne, additional, Minervina, Anastasia A, additional, Mishkova, Volha, additional, Mizia-Malarz, Agnieszka Joanna, additional, Morales La Madrid, Andres, additional, Moreira, Daniel C, additional, Moreno, Lucas, additional, Moskvin, Vadim P, additional, Mukkada, Sheena Teresa, additional, Muszyńska-Rosłan, Katarzyna Maria, additional, Mykychak, Iryna Volodymyrivna, additional, Niemeyer, Charlotte, additional, Nelson, Akoya Janae', additional, Ociepa, Tomasz, additional, Oltolini, Stefano, additional, Onipko, Nataliia, additional, Pappas, Andrew, additional, Patel, Amit B, additional, Patrahau, Alina Alina, additional, Pauley, Jennifer L., additional, Pavlenko, Yehor Mikhailovich, additional, Pavlovych, Andrij Oleksandrovych, additional, Peregud-Pogorzelski, Jarosław Władysław, additional, Perek-Polnik, Marta, additional, Pérez, Vanesa, additional, Pérez-Martínez, Antonio, additional, Pikman, Yana, additional, Pitozzi, Graziano Pitozzi, additional, Portugal, Rui Gentil, additional, Posternak, Victoria Vita, additional, Pleshkan, Viktoriya, additional, Prete, Arcangelo, additional, Pritchard-Jones, Kathy, additional, Radaelli, Alessandra, additional, Reeves, Tegan Jemma, additional, Reinhardt, Dirk, additional, Reshetnyak, Andrey V, additional, Rider, Andrew Jacob, additional, Rizzari, Carmelo, additional, Rizzi, Damiano Damiano, additional, Rodriguez Hermosillo, Karen Gabriela, additional, Ronenko, Olena Volodymyrivna, additional, Rostkowska, Aneta Olga, additional, Rudko, Liudmyla Yaroslavivna, additional, Sakaan, Firas Mohamed, additional, Sakhar, Nadezhda Aleksandrovna, additional, Salman, Zeena S, additional, Savva, Natallia N, additional, Scaccaglia, Davide, additional, Schaeffer, Elizabeth Hawthorne, additional, Schneider, Carina Ursula, additional, Scobie, Nicole, additional, Semeniuk, Olena Volodymyrivna, additional, Shevchyk, Roksoliana, additional, Shuler, Ana, additional, Shvets, Stanislav, additional, Sniderman, Liz, additional, Skoczen, Szymon Pawel, additional, Smeal, William John, additional, Sonkin, Anna Alexandra, additional, Spota, Andrea, additional, Sramkova, Lucie, additional, Stepanjuk, Alla Ivanivna, additional, Sterba, Jaroslav, additional, Strahm, Brigitte, additional, Styczynski, Jan, additional, Svintsova, Olha, additional, Synyuta, Andriy V, additional, Szczepanski, Tomasz, additional, Szczucinski, Paweł Kukiz, additional, Szmyd, Bartosz Miroslaw, additional, Tasso Cereceda, Maria, additional, Teliuk, Alina, additional, Tomanek, Iwona, additional, Topping, Phoebe, additional, Torrent, Montserrat, additional, Trelińska, Joanna, additional, Troyanovska, Olha Orestivna, additional, Tsurkan, Lyudmila G., additional, Tsymbalyuk-Voloshyn, Iryna, additional, Tyupa, Sergiy Ihorovych, additional, Urasinski, Tomasz Franciszek, additional, Urbanek Dądela, Agnieszka, additional, Vasilieva, Nataliia Jroslavivna, additional, Vasilyeva, Aksana, additional, Verdú-Amorós, Jaime, additional, Vilcu-Bajurean, Natalia, additional, Vinitsky, Leo, additional, Vivtcharenko, Victoria, additional, Vovk, Nelia, additional, Volpe, Giovanni, additional, Vorobel, Oksana Ivanivna, additional, Wachowiak, Jacek Tadeusz, additional, Wasiak, Marcin Sławomir, additional, Wiedower, Lance Allan, additional, Wuenschel, Lena Isolde, additional, Wysocki, Mariusz Stanislaw, additional, Yurieva, Marina, additional, Zagurska, Anastasiia, additional, Zakharenko, Stanislav S, additional, Zakharenko, Aelita V, additional, Zapotochna, Khrystyna, additional, Zawitkowska, Joanna Emilia, additional, and Zecca, Marco, additional

Published
2023
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16. Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations

Author

Pfaff, Elke, Aichmüller, Christian, Sill, Martin, Stichel, Damian, Snuderl, Matija, Karajannis, Matthias A., Schuhmann, Martin U., Schittenhelm, Jens, Hasselblatt, Martin, Thomas, Christian, Korshunov, Andrey, Rhizova, Marina, Wittmann, Andrea, Kaufhold, Anna, Iskar, Murat, Ketteler, Petra, Lohmann, Dietmar, Orr, Brent A., Ellison, David W., von Hoff, Katja, Mynarek, Martin, Rutkowski, Stefan, Sahm, Felix, von Deimling, Andreas, Lichter, Peter, Kool, Marcel, Zapatka, Marc, Pfister, Stefan M., and Jones, David T. W.

Published
2020
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19. Evidence in Focus: The Sparse Landscape of Randomized Trials on Retinoblastoma Treatment

Author

Lavasidis, Georgios, Papaioannou, Kyriaki, Anagnostou, Nikolaos, Ketteler, Petra, Bechrakis, Nikolaos E., and Ntzani, Evangelia

Abstract

Background:Retinoblastoma, although rare, is one of the most common intraocular malignancies worldwide. Its prognosis has improved significantly in the past few decades, thanks to modern treatments, like systemic, intra-arterial, and intravitreal chemotherapy. However, regarding survival, there are significant differences between high- and low-income countries, eye salvage is still a challenge worldwide, and treatment-related toxicity needs to be carefully and sufficiently managed. Summary:To appraise the strength of supporting evidence, we performed a systematic review of randomized controlled trials investigating any therapeutic protocol for retinoblastoma. Four trials with 174 participants (188 eyes) were eligible, all pertaining to different intravenous chemotherapy regimens. Vincristine, etoposide, and carboplatin (VEC) appear superior to a 5-drug combination for stage III retinoblastoma. Moreover, etoposide and carboplatin as neoadjuvant chemotherapy followed by thermochemotherapy seem to offer better local control than vincristine and carboplatin. However, increasing carboplatin dose in the VEC protocol failed to improve treatment efficacy. Key Messages:Retinoblastoma is a success story of modern medicine. However, only intravenous chemotherapy has been studied through randomized trials, while evidence for the most novel retinoblastoma treatments has mainly stemmed from observational studies. International collaborations for multicenter randomized trials could overcome difficulties and increase certainty and precision in the field.

Published
2024
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22. Development of a centralised triage centre for children with cancer and blood disorders in response to the humanitarian crisis in Ukraine

Author

Alexander, Sarah Weeks, Apel, Anna, Adyrov, Mykhaylo V, Avula, Meghana, Bal, Wioletta Anna, Balwierz, Walentyna Aniela, Basset-Salom, Luisa, Bastardo Blanco, Daniel, Bauer, Karolina Jadwiga, Bayazitov, Ildar T, Berlanga, Pablo, Bhakta, Nickhill Hitesh, Bieniek, Katarzyna Anna, Bien, Ewa Iwona, Blackwood, Christopher Andrew, Blair, Sally Jane, Bodak, Khrystyna Ihorivna, Bordeianu, Irina, Bouffet, Eric, Braganca, Joao Maria, Bucurenci, Mihaela Silvia, Budny, Elżbieta Beata, Budzyn, Andrii, Bumgardner, Christopher Carl, Burditt, Raina Nichole, Burnside Clapp, Victoria, Bykov, Viacheslav Valeriyovych, Cañete, Adela, Carnelli, Monica, Cela, Elena, Chaber, Radoslaw, Cherner-Drieux, Anna, Chubata, Mariya, Clough, Heidi M, Czauderna, Piotr Stefan, Czernicka - Siwecka, Jolanta, Czyzewski, Krzysztof, Dalle, Jean-Hugues, Dashchakovska, Olha, de Koning, Linda A, Dembowska-Baginska, Bozenna Malgorzata, Derwich, Katarzyna, Dirksen, Uta, Dommett, Rachel, Dorosh, Olha Ihorivna, dos Reis Farinha, Nuno Jorge, Drabko, Katarzyna Anna, Dragomir, Monica Desiree, Dworzak, Michael, Dyma, Sergii Vitaliiovych, Eggert, Angelika, English, Martin William, Farren, Becky S, Fedyk, Nataliia Yuriina, Fernández-Teijeiro, Ana, Ferneza, Severyn Romanovych, Foster, Whitney Baer, Fox Irwin, Leeanna Elizabeth, Gałązkowski, Robert Maciej, Ganieva, Galyna, Garanzha, Vasylyna Andriivna, Gelman, Marina S, Godzinski, Jan Krzysztof, Goeres, Anne Françoise, Golban, Rodica, Graetz, Dylan Elizabeth, Greiner, Jeanette, Griksaitis, Michael J, Gupta, Sumit, Hampel, Michal Andrzej, Hastings, Sara Grace, Heenen, Delphine Liliane, Hill, Marcela C, Holiuk, Ihor, Holter, Wolfgang, Hough, Rachael Emma, Hutnik, Lukasz Marek, Irga-Jaworska, Ninela, Istomin, Oleksandr Andriyovych, Ignatova, Anna, Janczar, Szymon Lech, Kacharian, Arman, Kalwak, Krzysztof, Karolczyk, Grażyna Małgorzata, Karpenko, Nataliia Mikolaivna, Katsubo, Halyna Oleksandrivna, Kattamis, Antonis, Kazanowska, Bernarda Jadwiga, Kentsis, Alex, Ketteler, Petra, Kienesberger, Anita, Kiselev, Roman, Kizyma, Zoryana Petrivna, Klymniuk, Hryhorii Ivanovych, Kolenova, Alexandra, Kostiuk, Yuliia, Kowalik, Tomasz, Kozlova, Olena Igorivna, Kozubenko, Vladyslav, Kraal, Kathelijne, Kramar, Tetyana Oleksandrivna, Krawczuk-Rybak, Maryna Maryna, Kulemzina, Irina, Kurkowska, Paulina, Kuzyk, Andriy S., Ladenstein, Ruth Lydia, Laguna, Pawel Jozef, Lassaletta, Alvaro, Lehmberg, Kai, Leontieva, Oksana, Liashenko, Serhii, Loizou, Loizos G., Lucchetta, Sonia Anna, Lupo, Matthew William, Lysytsia, Lesya, Lysytsia, Oleksandr, Machnik, Katarzyna Anna, Massimino, Maura, Mainland, Jeff A, Matysiak, Michal Jacek, Mayeur, Pierre, Miller, Beth Anne, Minervina, Anastasia A, Mishkova, Volha, Mizia-Malarz, Agnieszka Joanna, Morales La Madrid, Andres, Moreira, Daniel C, Moreno, Lucas, Moskvin, Vadim P, Mukkada, Sheena Teresa, Muszyńska-Rosłan, Katarzyna Maria, Mykychak, Iryna Volodymyrivna, Niemeyer, Charlotte, Nelson, Akoya Janae', Ociepa, Tomasz, Oltolini, Stefano, Onipko, Nataliia, Pappas, Andrew, Patel, Amit B, Patrahau, Alina Alina, Pauley, Jennifer L., Pavlenko, Yehor Mikhailovich, Pavlovych, Andrij Oleksandrovych, Peregud-Pogorzelski, Jarosław Władysław, Perek-Polnik, Marta, Pérez, Vanesa, Pérez-Martínez, Antonio, Pikman, Yana, Pitozzi, Graziano Pitozzi, Portugal, Rui Gentil, Posternak, Victoria Vita, Pleshkan, Viktoriya, Prete, Arcangelo, Pritchard-Jones, Kathy, Radaelli, Alessandra, Reeves, Tegan Jemma, Reinhardt, Dirk, Reshetnyak, Andrey V, Rider, Andrew Jacob, Rizzari, Carmelo, Rizzi, Damiano Damiano, Rodriguez Hermosillo, Karen Gabriela, Ronenko, Olena Volodymyrivna, Rostkowska, Aneta Olga, Rudko, Liudmyla Yaroslavivna, Sakaan, Firas Mohamed, Sakhar, Nadezhda Aleksandrovna, Salman, Zeena S, Savva, Natallia N, Scaccaglia, Davide, Schaeffer, Elizabeth Hawthorne, Schneider, Carina Ursula, Scobie, Nicole, Semeniuk, Olena Volodymyrivna, Shevchyk, Roksoliana, Shuler, Ana, Shvets, Stanislav, Sniderman, Liz, Skoczen, Szymon Pawel, Smeal, William John, Sonkin, Anna Alexandra, Spota, Andrea, Sramkova, Lucie, Stepanjuk, Alla Ivanivna, Sterba, Jaroslav, Strahm, Brigitte, Styczynski, Jan, Svintsova, Olha, Synyuta, Andriy V, Szczepanski, Tomasz, Szczucinski, Paweł Kukiz, Szmyd, Bartosz Miroslaw, Tasso Cereceda, Maria, Teliuk, Alina, Tomanek, Iwona, Topping, Phoebe, Torrent, Montserrat, Trelińska, Joanna, Troyanovska, Olha Orestivna, Tsurkan, Lyudmila G., Tsymbalyuk-Voloshyn, Iryna, Tyupa, Sergiy Ihorovych, Urasinski, Tomasz Franciszek, Urbanek Dądela, Agnieszka, Vasilieva, Nataliia Jroslavivna, Vasilyeva, Aksana, Verdú-Amorós, Jaime, Vilcu-Bajurean, Natalia, Vinitsky, Leo, Vivtcharenko, Victoria, Vovk, Nelia, Volpe, Giovanni, Vorobel, Oksana Ivanivna, Wachowiak, Jacek Tadeusz, Wasiak, Marcin Sławomir, Wiedower, Lance Allan, Wuenschel, Lena Isolde, Wysocki, Mariusz Stanislaw, Yurieva, Marina, Zagurska, Anastasiia, Zakharenko, Stanislav S, Zakharenko, Aelita V, Zapotochna, Khrystyna, Zawitkowska, Joanna Emilia, Zecca, Marco, Salek, Marta, Mueller, Alexandra, Alanbousi, Inna, Cepowska, Zuzanna, Dutkiewicz, Malgorzata, Earl, Julian, Evseev, Dmitry, Kizyma, Roman, Kliuchkivska, Khrystyna, Kolodrubiec, Julia, Matczak, Katarzyna, Nogovitsyna, Yuliya, Oszer, Aleksandra, Pogorelyy, Mikhail, Raciborska, Anna, Rasul, Suheir, Sokolowski, Igor, Sopilnyak, Andriy, Vinitsky, Anna, Wlodarski, Marcin W, Wobst, Natalia, Yakimkova, Taisiya, Rodriguez-Galindo, Carlos, Wise, Paul H, Mlynarski, Wojciech, and Agulnik, Asya

Published
2023
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23. Supplementary Table from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Author

van Tilburg, Cornelis M., primary, Pfaff, Elke, primary, Pajtler, Kristian W., primary, Langenberg, Karin P.S., primary, Fiesel, Petra, primary, Jones, Barbara C., primary, Balasubramanian, Gnana Prakash, primary, Stark, Sebastian, primary, Johann, Pascal D., primary, Blattner-Johnson, Mirjam, primary, Schramm, Kathrin, primary, Dikow, Nicola, primary, Hirsch, Steffen, primary, Sutter, Christian, primary, Grund, Kerstin, primary, von Stackelberg, Arend, primary, Kulozik, Andreas E., primary, Lissat, Andrej, primary, Borkhardt, Arndt, primary, Meisel, Roland, primary, Reinhardt, Dirk, primary, Klusmann, Jan-Henning, primary, Fleischhack, Gudrun, primary, Tippelt, Stephan, primary, von Schweinitz, Dietrich, primary, Schmid, Irene, primary, Kramm, Christof M., primary, von Bueren, André O., primary, Calaminus, Gabriele, primary, Vorwerk, Peter, primary, Graf, Norbert, primary, Westermann, Frank, primary, Fischer, Matthias, primary, Eggert, Angelika, primary, Burkhardt, Birgit, primary, Wößmann, Wilhelm, primary, Nathrath, Michaela, primary, Hecker-Nolting, Stefanie, primary, Frühwald, Michael C., primary, Schneider, Dominik T., primary, Brecht, Ines B., primary, Ketteler, Petra, primary, Fulda, Simone, primary, Koscielniak, Ewa, primary, Meister, Michael T., primary, Scheer, Monika, primary, Hettmer, Simone, primary, Schwab, Matthias, primary, Tremmel, Roman, primary, Øra, Ingrid, primary, Hutter, Caroline, primary, Gerber, Nicolas U., primary, Lohi, Olli, primary, Kazanowska, Bernarda, primary, Kattamis, Antonis, primary, Filippidou, Maria, primary, Goemans, Bianca, primary, Zwaan, C. Michel, primary, Milde, Till, primary, Jäger, Natalie, primary, Wolf, Stephan, primary, Reuss, David, primary, Sahm, Felix, primary, von Deimling, Andreas, primary, Dirksen, Uta, primary, Freitag, Angelika, primary, Witt, Ruth, primary, Lichter, Peter, primary, Kopp-Schneider, Annette, primary, Jones, David T.W., primary, Molenaar, Jan J., primary, Capper, David, primary, Pfister, Stefan M., primary, and Witt, Olaf, primary

Published
2023
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24. Data from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Author

van Tilburg, Cornelis M., primary, Pfaff, Elke, primary, Pajtler, Kristian W., primary, Langenberg, Karin P.S., primary, Fiesel, Petra, primary, Jones, Barbara C., primary, Balasubramanian, Gnana Prakash, primary, Stark, Sebastian, primary, Johann, Pascal D., primary, Blattner-Johnson, Mirjam, primary, Schramm, Kathrin, primary, Dikow, Nicola, primary, Hirsch, Steffen, primary, Sutter, Christian, primary, Grund, Kerstin, primary, von Stackelberg, Arend, primary, Kulozik, Andreas E., primary, Lissat, Andrej, primary, Borkhardt, Arndt, primary, Meisel, Roland, primary, Reinhardt, Dirk, primary, Klusmann, Jan-Henning, primary, Fleischhack, Gudrun, primary, Tippelt, Stephan, primary, von Schweinitz, Dietrich, primary, Schmid, Irene, primary, Kramm, Christof M., primary, von Bueren, André O., primary, Calaminus, Gabriele, primary, Vorwerk, Peter, primary, Graf, Norbert, primary, Westermann, Frank, primary, Fischer, Matthias, primary, Eggert, Angelika, primary, Burkhardt, Birgit, primary, Wößmann, Wilhelm, primary, Nathrath, Michaela, primary, Hecker-Nolting, Stefanie, primary, Frühwald, Michael C., primary, Schneider, Dominik T., primary, Brecht, Ines B., primary, Ketteler, Petra, primary, Fulda, Simone, primary, Koscielniak, Ewa, primary, Meister, Michael T., primary, Scheer, Monika, primary, Hettmer, Simone, primary, Schwab, Matthias, primary, Tremmel, Roman, primary, Øra, Ingrid, primary, Hutter, Caroline, primary, Gerber, Nicolas U., primary, Lohi, Olli, primary, Kazanowska, Bernarda, primary, Kattamis, Antonis, primary, Filippidou, Maria, primary, Goemans, Bianca, primary, Zwaan, C. Michel, primary, Milde, Till, primary, Jäger, Natalie, primary, Wolf, Stephan, primary, Reuss, David, primary, Sahm, Felix, primary, von Deimling, Andreas, primary, Dirksen, Uta, primary, Freitag, Angelika, primary, Witt, Ruth, primary, Lichter, Peter, primary, Kopp-Schneider, Annette, primary, Jones, David T.W., primary, Molenaar, Jan J., primary, Capper, David, primary, Pfister, Stefan M., primary, and Witt, Olaf, primary

Published
2023
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25. Supplementary Figure from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Author

van Tilburg, Cornelis M., primary, Pfaff, Elke, primary, Pajtler, Kristian W., primary, Langenberg, Karin P.S., primary, Fiesel, Petra, primary, Jones, Barbara C., primary, Balasubramanian, Gnana Prakash, primary, Stark, Sebastian, primary, Johann, Pascal D., primary, Blattner-Johnson, Mirjam, primary, Schramm, Kathrin, primary, Dikow, Nicola, primary, Hirsch, Steffen, primary, Sutter, Christian, primary, Grund, Kerstin, primary, von Stackelberg, Arend, primary, Kulozik, Andreas E., primary, Lissat, Andrej, primary, Borkhardt, Arndt, primary, Meisel, Roland, primary, Reinhardt, Dirk, primary, Klusmann, Jan-Henning, primary, Fleischhack, Gudrun, primary, Tippelt, Stephan, primary, von Schweinitz, Dietrich, primary, Schmid, Irene, primary, Kramm, Christof M., primary, von Bueren, André O., primary, Calaminus, Gabriele, primary, Vorwerk, Peter, primary, Graf, Norbert, primary, Westermann, Frank, primary, Fischer, Matthias, primary, Eggert, Angelika, primary, Burkhardt, Birgit, primary, Wößmann, Wilhelm, primary, Nathrath, Michaela, primary, Hecker-Nolting, Stefanie, primary, Frühwald, Michael C., primary, Schneider, Dominik T., primary, Brecht, Ines B., primary, Ketteler, Petra, primary, Fulda, Simone, primary, Koscielniak, Ewa, primary, Meister, Michael T., primary, Scheer, Monika, primary, Hettmer, Simone, primary, Schwab, Matthias, primary, Tremmel, Roman, primary, Øra, Ingrid, primary, Hutter, Caroline, primary, Gerber, Nicolas U., primary, Lohi, Olli, primary, Kazanowska, Bernarda, primary, Kattamis, Antonis, primary, Filippidou, Maria, primary, Goemans, Bianca, primary, Zwaan, C. Michel, primary, Milde, Till, primary, Jäger, Natalie, primary, Wolf, Stephan, primary, Reuss, David, primary, Sahm, Felix, primary, von Deimling, Andreas, primary, Dirksen, Uta, primary, Freitag, Angelika, primary, Witt, Ruth, primary, Lichter, Peter, primary, Kopp-Schneider, Annette, primary, Jones, David T.W., primary, Molenaar, Jan J., primary, Capper, David, primary, Pfister, Stefan M., primary, and Witt, Olaf, primary

Published
2023
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27. Global effort to evacuate Ukrainian children with cancer and blood disorders who have been affected by war

Author

Agulnik, Asya, primary, Kizyma, Roman, additional, Salek, Marta, additional, Wlodarski, Marcin W, additional, Pogorelyy, Mikhail, additional, Oszer, Aleksandra, additional, Yakimkova, Taisiya, additional, Nogovitsyna, Yuliya, additional, Dutkiewicz, Malgorzata, additional, Dalle, Jean-Hugues, additional, Dirksen, Uta, additional, Eggert, Angelika, additional, Fernández-Teijeiro, Ana, additional, Greiner, Jeanette, additional, Kraal, Kathelijne, additional, Mueller, Alexandra, additional, Sramkova, Lucie, additional, Zecca, Marco, additional, Wise, Paul H, additional, Mlynarski, Wojciech, additional, Avula, Meghana, additional, Adyrov, Mykhaylo V, additional, Berlanga, Pablo, additional, Blackwood, Christopher Andrew, additional, Bouffet, Eric, additional, Czauderna, Piotr Stefan, additional, de Koning, Linda A, additional, dos Reis Farinha, Nuno Jorge, additional, Foster, Whitney Baer, additional, Graetz, Dylan Elizabeth, additional, Gupta, Sumit, additional, Holter, Wolfgang, additional, Hough, Rachael Emma, additional, Kliuchkivska, Khrystyna, additional, Kolenova, Alexandra, additional, Kołodrubiec, Julia, additional, Moreira, Daniel C, additional, Mukkada, Sheena Teresa, additional, Mykychak, Iryna, additional, Raciborska, Anna, additional, Salman, Zeena S, additional, Sopilnyak, Andriy, additional, Tyupa, Sergiy, additional, Vinitsky, Anna, additional, Wobst, Natalia Margarete, additional, Miller, Beth Anne, additional, Rasul, Suheir Subhi, additional, Rodriguez-Galindo, Carlos, additional, Alanbousi, Inna, additional, Alexander, Sarah Weeks, additional, Apel, Anna, additional, Bal, Wioletta Anna, additional, Balwierz, Walentyna Aniela, additional, Basset-Salom, Luisa, additional, Bastardo Blanco, Daniel, additional, Bauer, Karolina Jadwiga, additional, Bayazitov, Ildar T, additional, Bhakta, Nickhill Hitesh, additional, Bien, Ewa Iwona, additional, Bieniek, Katarzyna Anna, additional, Blair, Sally Jane, additional, Bodak, Khrystyna Ihorivna, additional, Bordeianu, Irina Michael, additional, Braganca, Joao Maria, additional, Bucurenci, Mihaela Silvia, additional, Budny, Elżbieta Beata, additional, Budzyn, Andrii, additional, Bumgardner, Christopher Carl, additional, Burditt, Raina Nichole, additional, Burnside Clapp, Victoria Grace, additional, Bykov, Viacheslav, additional, Cañete, Adela, additional, Carnelli, Monica, additional, Cela, Elena, additional, Cepowska, Zuzanna Paulina, additional, Chaber, Radoslaw, additional, Cherner-Drieux, Anna, additional, Chubata, Mariya, additional, Clough, Heidi M, additional, Czernicka - Siwecka, Jolanta, additional, Czyzewski, Krzysztof, additional, Dashchakovska, Olha, additional, Dembowska-Baginska, Bozenna Malgorzata, additional, Derwich, Katarzyna, additional, Dommett, Rachel, additional, Dorosh, Olha, additional, Drabko, Katarzyna Anna, additional, Dragomir, Monica Desiree, additional, Dworzak, Michael, additional, Dyma, Sergii, additional, Earl, Julian Darocus, additional, English, Martin William, additional, Evseev, Dmitry A, additional, Farren, Becky S, additional, Fedyk, Nataliia, additional, Ferneza, Severyn, additional, Fox Irwin, Leeanna Elizabeth, additional, Gałązkowski, Robert Maciej, additional, Ganieva, Galyna, additional, Garanzha, Vasylyna, additional, Gelman, Marina S, additional, Godzinski, Jan Krzysztof, additional, Goeres, Anne Francoise, additional, Golban, Rodica, additional, Griksaitis, Michael J, additional, Hampel, Michal Andrzej, additional, Hastings, Sara Grace, additional, Heenen, Delphine Liliane, additional, Hill, Marcela C, additional, Holiuk, Igor, additional, Hutnik, Lukasz Marek, additional, Irga-Jaworska, Ninela, additional, Istomin, Oleksandr, additional, Janczar, Szymon Lech, additional, Kacharian, Arman, additional, Kalwak, Krzysztof, additional, Karolczyk, Grażyna Malgorzata, additional, Karpenko, Nataliia Mikolaivna, additional, Katsubo, Halyna, additional, Kaznowska, Bernarda Jadwiga, additional, Kentsis, Alex, additional, Ketteler, Petra, additional, Kienesberger, Anita, additional, Kiselev, Roman, additional, Kizyma, Zoryana, additional, Klymniuk, Hryhorii, additional, Kostiuk, Yuliia, additional, Kowalik, Tomasz, additional, Kozlova, Olena, additional, Kozubenko, Vladyslav, additional, Kramar, Tetyana, additional, Krawczuk-Rybak, Maryna, additional, Kulemzina, Irina, additional, Kurkowska, Paulina, additional, Kuzyk, Andriy S, additional, Ladenstein, Ruth Lydia, additional, Laguna, Pawel Jozef, additional, Lassaletta, Alvaro, additional, Lehmberg, Kai, additional, Leontieva, Oksana, additional, Liashenko, Serhii, additional, Loizou, Loizos G, additional, Lucchetta, Sonia Anna, additional, Lupo, Matthew William, additional, Lysytsia, Lesya, additional, Lysytsia, Oleksandr, additional, Machnik, Katarzyna Anna, additional, Mainland, Jeff A, additional, Matczak, Katarzyna Ewa, additional, Matysiak, Michal Jacek, additional, Mayeur, Pierre, additional, Minervina, Anastasia A, additional, Mishkova, Volha, additional, Mizia-Malarz, Agnieszka Joanna, additional, Morales La Madrid, Andres, additional, Moreno, Lucas, additional, Moskvin, Vadim P, additional, Muszyńska-Rosłan, Katarzyna Maria, additional, Nelson, Akoya Janae, additional, Ociepa, Tomasz, additional, Oltolini, Stefano, additional, Onipko, Nataliia, additional, Pappas, Andrew, additional, Patel, Amit B, additional, Patrahau, Alina, additional, Pauley, Jennifer L, additional, Pavlenko, Yehor, additional, Pavlovych, Andrij, additional, Peregud-Pogorzelski, Jarosław, additional, Perek-Polnik, Marta, additional, Perez, Vanesa, additional, Perez-Martinez, Antonio, additional, Pikman, Yana, additional, Pitozzi, Graziano, additional, Portugal, Rui Gentil, additional, Posternak, Victoria Vita, additional, Prete, Arcangelo, additional, Pritchard-Jones, Kathy, additional, Radaelli, Alessandra, additional, Reeves, Tegan, additional, Reinhardt, Dirk, additional, Reshetnyak, Andrey V, additional, Rider, Andrew Jacob, additional, Rizzari, Carmelo, additional, Rizzi, Damiano, additional, Rodriguez Hermosillo, Karen Gabriela, additional, Ronenko, Olena, additional, Rostowska, Aneta Olga, additional, Rudko, Liudmyla, additional, Sakaan, Firas Mohamed, additional, Sakhar, Nadezhda, additional, Savva, Natallia N, additional, Scaccaglia, Davide, additional, Schaeffer, Elizabeth Hawthorne, additional, Schneider, Carina Ursula, additional, Scobie, Nicole, additional, Semeniuk, Olena, additional, Shevchyk, Roksoliana, additional, Shuler, Ana I, additional, Shvets, Stanislav, additional, Skoczen, Szymon Pawel, additional, Smeal, William John, additional, Sokolowski, Igor, additional, Sonkin, Anna A, additional, Stepanjuk, Alla Ivanivna, additional, Spota, Andrea, additional, Sterba, Jaroslav, additional, Styczynski, Jan, additional, Svintsova, Olha, additional, Synyuta, Andriy V, additional, Szczepanski, Tomasz, additional, Szczucinski, Paweł Kukiz, additional, Szmyd, Bartosz Miroslaw, additional, Tasso Cereceda, Maria, additional, Teliuk, Alina, additional, Tomanek, Iwona, additional, Topping, Phoebe, additional, Torrent, Montserrat, additional, Trelińska, Joanna, additional, Troyanovska, Olha, additional, Trubnikova, Elena, additional, Tsurkan, Lyudmila G, additional, Tsymbalyuk-Voloshyn, Iryna, additional, Urasinski, Tomasz Franciszek, additional, Urbanek-Dadela, Agnieszka, additional, Vasilieva, Nataliia, additional, Vasilyeva, Aksana, additional, Verdú-Amorós, Jaime, additional, Vilcu-Bajurean, Natalia, additional, Vinitsky, Leo, additional, Volpe, Giovanni, additional, Vorobel, Oksana, additional, Wachowiak, Jacek Tadeusz, additional, Wasiak, Marcin Slawomir, additional, Wiedower, Lance Allan, additional, Wuenschel, Lena Isolde, additional, Wysocki, Mariusz Stanislaw, additional, Yurieva, Marina, additional, Zagurska, Anastasiia, additional, Zakharenko, Stanislav S, additional, Zakharenko, Aelita V, additional, Zapotochna, Khrystyna, additional, and Zawitkowska, Joanna Emilia, additional

Published
2022
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28. Bildgebung des Retinoblastoms

Author

Schweiger, Bernd, primary, Göricke, Sophia, additional, Ketteler, Petra, additional, Biewald, Eva, additional, Kottke, Raimund, additional, and Sirin, Selma, additional

Published
2022
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29. OTHR-34. Identifying mechanisms of microglia-tumor cell interactions in retinoblastoma

Author

Pohlmann, Anike, primary, Gerling, Teresa, additional, Walter, Carolin, additional, Melcher, Viktoria, additional, de Faria, Flavia W, additional, Disch, Alina, additional, Kanber, Deniz, additional, Wöstefeld, Julia, additional, Steenpass, Laura, additional, Lohmann, Dietmar, additional, Ryl, Tatsiana, additional, Riedel, Nicole, additional, Ketteler, Petra, additional, Schönberger, Stefan, additional, Ting, Saskia, additional, Bedzhov, Ivan, additional, Kiefer, Tobias, additional, Lever, Mael, additional, Schlüter, Sabrina, additional, Biewald, Eva, additional, Bechrakis, Nikolaos, additional, Albert, Thomas K, additional, and Kerl, Kornelius, additional

Published
2022
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30. Additional file 5 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 5: Table S2. Seizure and seizure-like episodes in affected individuals with at least one afebrile seizure.

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2022
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31. Additional file 6 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 6: Figure S1. TASK3 conformational changes define PC motions and channel gating. Figure S2. Detailed view of the TASK3 selectivity filter and surrounding residues. Figure S3. Distributions of K+ ions for selected positions along the transport process, and across variants. Figure S4. Genomic variants lead to changes in K+ concentration at the selectivity filter. Figure S5. Cellular localization of labelled TASK3 variants. Figure S6. Comparison of whole cell current density for Tyr205Cys in the presence of various cysteine-modifying agents.

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2022
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32. Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 1: Supplementary Note. Clinical Histories. Written clinical histories including genetic testing for each novel family in this study. Molecular Modeling Reveals Mutation-Specific Effects on Channel Mechanics. Molecular Dynamics Simulations Show Changes in Potassium Ion Distribution.

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2022
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34. Additional file 9 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 9: Table S5. A comparison of GPCRs regulation between TASK3 clinical variants and WT controls.

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2022
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35. Additional file 7 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 7: Table S3. A comparison of whole cell current density and reversal potentials between TASK3 clinical variants and matched WT controls.

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2022
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36. Additional file 8 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 8: Table S4. A comparison of inhibition by extracellular acidification (pH 6.4) between TASK3 clinical variants and WT controls.

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2022
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37. Adjuvant Therapy for Children with Primary Enucleation of Retinoblastoma: A Report from a Prospective Multicenter Observational Study

Author

Diarra, Yelena, primary, Brockmeyer, Christina, additional, Fischhuber, Karen, additional, Hülsenbeck, Isabel, additional, Ting, Saskia, additional, Reschke, Madlen, additional, Kiefer, Tobias, additional, Hannbücken, Anna, additional, Wagemanns, Maren, additional, Jabbarli, Leyla, additional, Sirin, Selma, additional, Wieland, Regina, additional, Fleischhack, Gudrun, additional, Schulte, Johannes H., additional, Ebinger, Martin, additional, Lohmann, Dietmar, additional, Müller, Bert, additional, Süsskind, Daniela, additional, Schwab, Christoph, additional, Brecht, Ines B., additional, Eggert, Angelika, additional, Schönberger, Stefan, additional, Ritter-Sovinz, Petra, additional, Bechrakis, Nikolaos, additional, Göricke, Sophia, additional, Timmermann, Beate, additional, Biewald, Eva, additional, and Ketteler, Petra, additional

Published
2022
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38. Long-Term Results after Intraocular Surgery in Treated Retinoblastoma Eyes

Author

Rating, Philipp, primary, Bornfeld, Norbert, additional, Schlüter, Sabrina, additional, Westekemper, Henrike, additional, Kiefer, Tobias, additional, Stuschke, Martin, additional, Göricke, Sophia, additional, Ketteler, Petra, additional, Ting, Saskia, additional, Metz, Klaus A., additional, Bechrakis, Nikolaos E., additional, and Biewald, Eva, additional

Published
2022
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40. Comparing efficacy and side effects of two systemic chemotherapy regimens for eye‐preserving therapy in children with retinoblastoma

Author

Grümme, Lea, primary, Biewald, Eva, additional, Reschke, Madlen, additional, Fischhuber, Karen, additional, Hanbücken, Anna, additional, Schlüter, Sabrina, additional, Müller, Bert, additional, Kiefer, Tobias, additional, Göricke, Sophia, additional, Geismar, Dirk, additional, Ryl, Tatsiana, additional, Sirin, Selma, additional, Wieland, Regina, additional, Timmermann, Beate, additional, Lohmann, Dietmar, additional, Ebinger, Martin, additional, Brecht, Ines B., additional, Schönberger, Stefan, additional, Schwab, Christoph, additional, Eggert, Angelika, additional, Süsskind, Daniela, additional, Ritter‐Sovinz, Petra, additional, Bechrakis, Nikolaos E., additional, and Ketteler, Petra, additional

Published
2021
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41. The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Author

van Tilburg, Cornelis M., primary, Pfaff, Elke, additional, Pajtler, Kristian W., additional, Langenberg, Karin P.S., additional, Fiesel, Petra, additional, Jones, Barbara C., additional, Balasubramanian, Gnana Prakash, additional, Stark, Sebastian, additional, Johann, Pascal D., additional, Blattner-Johnson, Mirjam, additional, Schramm, Kathrin, additional, Dikow, Nicola, additional, Hirsch, Steffen, additional, Sutter, Christian, additional, Grund, Kerstin, additional, von Stackelberg, Arend, additional, Kulozik, Andreas E., additional, Lissat, Andrej, additional, Borkhardt, Arndt, additional, Meisel, Roland, additional, Reinhardt, Dirk, additional, Klusmann, Jan-Henning, additional, Fleischhack, Gudrun, additional, Tippelt, Stephan, additional, von Schweinitz, Dietrich, additional, Schmid, Irene, additional, Kramm, Christof M., additional, von Bueren, André O., additional, Calaminus, Gabriele, additional, Vorwerk, Peter, additional, Graf, Norbert, additional, Westermann, Frank, additional, Fischer, Matthias, additional, Eggert, Angelika, additional, Burkhardt, Birgit, additional, Wößmann, Wilhelm, additional, Nathrath, Michaela, additional, Hecker-Nolting, Stefanie, additional, Frühwald, Michael C., additional, Schneider, Dominik T., additional, Brecht, Ines B., additional, Ketteler, Petra, additional, Fulda, Simone, additional, Koscielniak, Ewa, additional, Meister, Michael T., additional, Scheer, Monika, additional, Hettmer, Simone, additional, Schwab, Matthias, additional, Tremmel, Roman, additional, Øra, Ingrid, additional, Hutter, Caroline, additional, Gerber, Nicolas U., additional, Lohi, Olli, additional, Kazanowska, Bernarda, additional, Kattamis, Antonis, additional, Filippidou, Maria, additional, Goemans, Bianca, additional, Zwaan, C. Michel, additional, Milde, Till, additional, Jäger, Natalie, additional, Wolf, Stephan, additional, Reuss, David, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Dirksen, Uta, additional, Freitag, Angelika, additional, Witt, Ruth, additional, Lichter, Peter, additional, Kopp-Schneider, Annette, additional, Jones, David T.W., additional, Molenaar, Jan J., additional, Capper, David, additional, Pfister, Stefan M., additional, and Witt, Olaf, additional

Published
2021
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42. Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Author

Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., and Ketteler, Petra

Subjects
RB1 gene, heritable retinoblastoma, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Pädiatrische Hämatologie, Onkologie und Endokrinologie, 13q-syndrome, screening, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Augenheilkunde, Medizin, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, tumor predisposition syndrome, lcsh:RC254-282, Article, eye diseases, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, pRB, splice-site variants, classification, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Medizinische Informatik, Biometrie und Epidemiologie
Abstract

Simple Summary Heritable retinoblastoma is a genetic disease that predisposes to develop multiple retinoblastomas in childhood and other extraocular tumors later in life. It is caused by genetic variants in the RB1 gene. Here we present a new classification for genetic variants in the RB1 gene (REC) that focuses on the variant’s effect. The different classes, REC-I to -V, correlate with different risks of tumor predisposition. REC correlated with different clinical courses when applied in our study cohort. REC aims to facilitate risk estimation for physicians, patients and their families, and researchers and to improve the definition of the necessity of screening examination. Abstract Constitutional haploinsufficiency of the RB1 gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later in life. Constitutional pathogenic variants in RB1 are heterogeneous, and a few genotype-phenotype correlations have been described. To identify further genotype-phenotype relationships, we developed the retinoblastoma variant effect classification (REC), which considers each variant’s predicted effects on the common causal mediator, RB1 protein pRB. For validation, the RB1 variants of 287 patients were grouped according to REC. Multiple aspects of phenotypic expression were analyzed, known genotype-phenotype associations were revised, and new relationships were explored. Phenotypic expression of patients with REC-I, -II, and -III was distinct. Remarkably, the phenotype of patients with variants causing residual amounts of truncated pRB (REC-I) was more severe than patients with complete loss of RB1 (REC-II). The age of diagnosis of REC-I variants appeared to be distinct depending on truncation’s localization relative to pRB structure domains. REC classes identify genotype-phenotype relationships and, therefore, this classification framework may serve as a tool to develop tailored tumor screening programs depending on the type of RB1 variant.

Published
2021

43. Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Author

Reschke, Madlen, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin, Fleischhack, Gudrun, Grabow, Desiree, Geismar, Dirk, Göricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Müller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schlüter, Sabrina, Schönberger, Stefan, Schulte, Johannes H., Sirin, Selma, Süsskind, Daniela, Timmermann, Beate, Ting, Saskia, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk, Eggert, Angelika, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos, and Ketteler, Petra

Subjects
cancer predisposition syndrome, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Pathologie und Neuropathologie, genetic counseling, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Pädiatrische Hämatologie, Onkologie und Endokrinologie, retinoblastoma -- uveal melanoma -- retinal astrocytoma -- ciliary body medulloepithelioma -- genetic counseling -- DICER1 syndrome -- nevus Ota -- cancer predisposition syndrome, genetic structures, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Augenheilkunde, Medizin, DICER1 syndrome, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, nevus Ota, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Strahlentherapie, lcsh:RC254-282, Article, retinoblastoma, eye diseases, Medizinische Fakultät » Universitätsklinikum Essen » Westdeutsches Protonentherapiezentrum (WPE), Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Diagnostische und Interventionelle Radiologie und Neuroradiologie, ciliary body medulloepithelioma, sense organs, ddc:610, uveal melanoma, retinal astrocytoma
Abstract

Simple Summary Eye tumors in children are very rare. In Europe, these eye tumors are nearly always diagnosed early and cure rates are high. However, eye tumors in childhood often occur as the first sign of a genetic tumor predisposition syndrome. This study collected data of children with malignant eye tumors diagnosed in five years in Germany and Austria to learn about the association of eye tumors in childhood with tumor predisposition syndrome. The study recruited 300 children with malignant eye tumors in childhood. In the here-presented cohort, more than 40% of eye tumors were associated with rare tumor predisposition syndromes. For this reason, all children with eye tumors and their families should receive genetic counseling for a tumor predisposition syndrome. Children with a genetic predisposition to cancer should receive a tailored surveillance, including detailed history, physical examination and, if indicated, imaging to screen for other cancers later in life. Abstract Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.

Published
2021

45. Feasibility of proton beam therapy as a rescue therapy in heavily pre‐treated retinoblastoma eyes

Author

Biewald, Eva, Kiefer, Tobias, Geismar, Dirk, Schlüter, Sabrina, Manthey, Anke, Westekemper, Henrike, Wulff, Jörg, Timmermann, Beate, Ketteler, Petra, Schönberger, Stefan, Metz, Klaus, Ting, Saskia, Göricke, Sophia Luise, Bechrakis, Nikolaos E., and Bornfeld, Norbert

Subjects
genetic structures, Medizin, sense organs, eye diseases
Abstract

Despite the increased risk of subsequent primary tumors (SPTs) external beam radiation (EBRT) may be the only therapeutic option to preserve a retinoblastoma eye. Due to their physical properties, proton beam therapy (PBT) offers the possibility to use the effectiveness of EBRT in tumor treatment and to decisively reduce the treatment‐related morbidity. We report our experiences of PBT as rescue therapy in a retrospectively studied cohort of 15 advanced retinoblastoma eyes as final option for eye‐preserving therapy. The average age at the initiation of PBT was 35 (14–97) months, mean fol-low‐up was 22 (2–46) months. Prior to PBT, all eyes were treated with systemic chemotherapy and a mean number of 7.1 additional treatments. Indication for PBT was non‐feasibility of intra‐arterial chemotherapy (IAC) in 10 eyes, tumor recurrence after IAC in another 3 eyes and diffuse infiltrating retinoblastoma in 2 eyes. Six eyes (40%) were enucleated after a mean time interval of 4.8 (1–8) months. Cataract formation was the most common complication affecting 44.4% of the preserved eyes, yet 77.8% achieved a visual acuity of >20/200. Two of the 15 children treated developed metastatic disease during follow‐up, resulting in a 13.3% metastasis rate. PBT is a useful treatment modality as a rescue therapy in retinoblastoma eyes with an eye‐preserving rate of 60%. As patients are at lifetime risk of SPTs con-sistent monitoring is mandatory. OA Förderung 2021

Published
2021

46. The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Author

van Tilburg, Cornelis M., Pfaff, Elke, Pajtler, Kristian W., Langenberg, Karin P. S., Fiesel, Petra, Jones, Barbara C., Balasubramanian, Gnana Prakash, Stark, Sebastian, Johann, Pascal D., Blattner-Johnson, Mirjam, Schramm, Kathrin, Dikow, Nicola, Hirsch, Steffen, Sutter, Christian, Grund, Kerstin, von Stackelberg, Arend, Kulozik, Andreas E., Lissat, Andrej, Borkhardt, Arndt, Meisel, Roland, Reinhardt, Dirk, Klusmann, Jan-Henning, Fleischhack, Gudrun, Tippelt, Stephan, von Schweinitz, Dietrich, Schmid, Irene, Kramm, Christof M., von Bueren, Andre O., Calaminus, Gabriele, Vorwerk, Peter, Graf, Norbert, Westermann, Frank, Fischer, Matthias, Eggert, Angelika, Burkhardt, Birgit, Woessmann, Wilhelm, Nathrath, Michaela, Hecker-Nolting, Stefanie, Fruehwald, Michael C., Schneider, Dominik T., Brecht, Ines B., Ketteler, Petra, Fulda, Simone, Koscielniak, Ewa, Meister, Michael T., Scheer, Monika, Hettmer, Simone, Schwab, Matthias, Tremmel, Roman, Ora, Ingrid, Hutter, Caroline, Gerber, Nicolas U., Lohi, Olli, Kazanowska, Bernarda, Kattamis, Antonis, Filippidou, Maria, Goemans, Bianca, Zwaan, C. Michel, Milde, Till, Jaeger, Natalie, Wolf, Stephan, Reuss, David, Sahm, Felix, von Deimling, Andreas, Dirksen, Uta, Freitag, Angelika, Witt, Ruth, Lichter, Peter, Kopp-Schneider, Annette, Jones, David T. W., Molenaar, Jan J., Capper, David, Pfister, Stefan M., Witt, Olaf, van Tilburg, Cornelis M., Pfaff, Elke, Pajtler, Kristian W., Langenberg, Karin P. S., Fiesel, Petra, Jones, Barbara C., Balasubramanian, Gnana Prakash, Stark, Sebastian, Johann, Pascal D., Blattner-Johnson, Mirjam, Schramm, Kathrin, Dikow, Nicola, Hirsch, Steffen, Sutter, Christian, Grund, Kerstin, von Stackelberg, Arend, Kulozik, Andreas E., Lissat, Andrej, Borkhardt, Arndt, Meisel, Roland, Reinhardt, Dirk, Klusmann, Jan-Henning, Fleischhack, Gudrun, Tippelt, Stephan, von Schweinitz, Dietrich, Schmid, Irene, Kramm, Christof M., von Bueren, Andre O., Calaminus, Gabriele, Vorwerk, Peter, Graf, Norbert, Westermann, Frank, Fischer, Matthias, Eggert, Angelika, Burkhardt, Birgit, Woessmann, Wilhelm, Nathrath, Michaela, Hecker-Nolting, Stefanie, Fruehwald, Michael C., Schneider, Dominik T., Brecht, Ines B., Ketteler, Petra, Fulda, Simone, Koscielniak, Ewa, Meister, Michael T., Scheer, Monika, Hettmer, Simone, Schwab, Matthias, Tremmel, Roman, Ora, Ingrid, Hutter, Caroline, Gerber, Nicolas U., Lohi, Olli, Kazanowska, Bernarda, Kattamis, Antonis, Filippidou, Maria, Goemans, Bianca, Zwaan, C. Michel, Milde, Till, Jaeger, Natalie, Wolf, Stephan, Reuss, David, Sahm, Felix, von Deimling, Andreas, Dirksen, Uta, Freitag, Angelika, Witt, Ruth, Lichter, Peter, Kopp-Schneider, Annette, Jones, David T. W., Molenaar, Jan J., Capper, David, Pfister, Stefan M., and Witt, Olaf

Abstract

INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up of 519 patients in whom molecular alterations were evaluated according to a predefined seven-scale target prioritization algorithm. Mean turnaround time from sample receipt to report was 25.4 days. The highest target priority level was observed in 42 patients (8.1%). Of these, 20 patients received matched targeted treatment with a median progression-free survival of 204 days [95% confidence interval (CI), 99-not applicable], compared with 117 days (95% CI, 106-143; P = 0.011) in all other patients. The respective molecular targets were shown to be predictive for matched treatment response and not prognostic surrogates for improved outcome. Hereditary cancer predisposition syndromes were identified in 7.5% of patients, half of which were newly identified through the study. Integrated molecular analyses resulted in a change or refinement of diagnoses in 8.2% of cases. SIGNIFICANCE: The pediatric precision oncology INFORM registry prospectively tested a target prioritization algorithm in a real-world, multinational setting and identified subgroups of patients benefiting from matched targeted treatment with improved progression-free survival, refinement of diagnosis, and identification of hereditary cancer predisposition syndromes.

Published
2021

47. The pediatric precision oncology inform registry:Clinical outcome and benefit for patients with very high-evidence targets

Author

Van Tilburg, Cornelis M., Pfaff, Elke, Pajtler, Kristian W., Langenberg, Karin P.S., Fiesel, Petra, Jones, Barbara C., Balasubramanian, Gnana Prakash, Stark, Sebastian, Johann, Pascal D., Blattner-Johnson, Mirjam, Schramm, Kathrin, Dikow, Nicola, Hirsch, Steffen, Sutter, Christian, Grund, Kerstin, Von Stackelberg, Arend, Kulozik, Andreas E., Lissat, Andrej, Borkhardt, Arndt, Meisel, Roland, Reinhardt, Dirk, Klusmann, Jan Henning, Fleischhack, Gudrun, Tippelt, Stephan, Von Schweinitz, Dietrich, Schmid, Irene, Kramm, Christof M., Von Bueren, André O., Calaminus, Gabriele, Vorwerk, Peter, Graf, Norbert, Westermann, Frank, Fischer, Matthias, Eggert, Angelika, Burkhardt, Birgit, Wößmann, Wilhelm, Nathrath, Michaela, Hecker-Nolting, Stefanie, Frühwald, Michael C., Schneider, Dominik T., Brecht, Ines B., Ketteler, Petra, Fulda, Simone, Koscielniak, Ewa, Meister, Michael T., Scheer, Monika, Hettmer, Simone, Schwab, Matthias, Tremmel, Roman, Øra, Ingrid, Hutter, Caroline, Gerber, Nicolas U., Lohi, Olli, Kazanowska, Bernarda, Kattamis, Antonis, Filippidou, Maria, Goemans, Bianca, Zwaan, C. Michel, Milde, Till, Jäger, Natalie, Wolf, Stephan, Reuss, David, Sahm, Felix, Von Deimling, Andreas, Dirksen, Uta, Freitag, Angelika, Witt, Ruth, Lichter, Peter, Kopp-Schneider, Annette, Jones, David T.W., Molenaar, Jan J., Capper, David, Pfister, Stefan M., Witt, Olaf, Van Tilburg, Cornelis M., Pfaff, Elke, Pajtler, Kristian W., Langenberg, Karin P.S., Fiesel, Petra, Jones, Barbara C., Balasubramanian, Gnana Prakash, Stark, Sebastian, Johann, Pascal D., Blattner-Johnson, Mirjam, Schramm, Kathrin, Dikow, Nicola, Hirsch, Steffen, Sutter, Christian, Grund, Kerstin, Von Stackelberg, Arend, Kulozik, Andreas E., Lissat, Andrej, Borkhardt, Arndt, Meisel, Roland, Reinhardt, Dirk, Klusmann, Jan Henning, Fleischhack, Gudrun, Tippelt, Stephan, Von Schweinitz, Dietrich, Schmid, Irene, Kramm, Christof M., Von Bueren, André O., Calaminus, Gabriele, Vorwerk, Peter, Graf, Norbert, Westermann, Frank, Fischer, Matthias, Eggert, Angelika, Burkhardt, Birgit, Wößmann, Wilhelm, Nathrath, Michaela, Hecker-Nolting, Stefanie, Frühwald, Michael C., Schneider, Dominik T., Brecht, Ines B., Ketteler, Petra, Fulda, Simone, Koscielniak, Ewa, Meister, Michael T., Scheer, Monika, Hettmer, Simone, Schwab, Matthias, Tremmel, Roman, Øra, Ingrid, Hutter, Caroline, Gerber, Nicolas U., Lohi, Olli, Kazanowska, Bernarda, Kattamis, Antonis, Filippidou, Maria, Goemans, Bianca, Zwaan, C. Michel, Milde, Till, Jäger, Natalie, Wolf, Stephan, Reuss, David, Sahm, Felix, Von Deimling, Andreas, Dirksen, Uta, Freitag, Angelika, Witt, Ruth, Lichter, Peter, Kopp-Schneider, Annette, Jones, David T.W., Molenaar, Jan J., Capper, David, Pfister, Stefan M., and Witt, Olaf

Abstract

INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up of 519 patients in whom molecular alterations were evaluated according to a predefined seven-scale target prioritization algorithm. Mean turnaround time from sample receipt to report was 25.4 days. The highest target priority level was observed in 42 patients (8.1%). Of these, 20 patients received matched targeted treatment with a median progression-free survival of 204 days [95% confidence interval (CI), 99–not applicable], compared with 117 days (95% CI, 106–143; P = 0.011) in all other patients. The respective molecular targets were shown to be predictive for matched treatment response and not prognostic surrogates for improved outcome. Hereditary cancer predisposition syndromes were identified in 7.5% of patients, half of which were newly identified through the study. Integrated molecular analyses resulted in a change or refinement of diagnoses in 8.2% of cases.

Published
2021

48. Feasibility of Proton Beam Therapy as a Rescue Therapy in Heavily Pre-Treated Retinoblastoma Eyes

Author

Biewald, Eva, primary, Kiefer, Tobias, additional, Geismar, Dirk, additional, Schlüter, Sabrina, additional, Manthey, Anke, additional, Westekemper, Henrike, additional, Wulff, Jörg, additional, Timmermann, Beate, additional, Ketteler, Petra, additional, Schönberger, Stefan, additional, Metz, Klaus A., additional, Ting, Saskia, additional, Göricke, Sophia, additional, Bechrakis, Nikolaos E., additional, and Bornfeld, Norbert, additional

Published
2021
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49. Adjuvant therapy of histopathological risk factors of retinoblastoma in Europe: A survey by the European Retinoblastoma Group (EURbG)

Author

Dittner‐Moormann, Sabine, primary, Reschke, Madlen, additional, Abbink, Floor C. H., additional, Aerts, Isabelle, additional, Atalay, Hatice Tuba, additional, Fedorovna Bobrova, Nadezhda, additional, Biewald, Eva, additional, Brecht, Ines B., additional, Caspi, Shani, additional, Cassoux, Nathalie, additional, Castela, Guilherme, additional, Diarra, Yelena, additional, Duncan, Catriona, additional, Ebinger, Martin, additional, Garcia Aldana, David, additional, Hadjistilianou, Doris, additional, Kepák, Tomáš, additional, Klett, Artur, additional, Kiratli, Hayyam, additional, Maka, Erika, additional, Opocher, Enrico, additional, Pawinska‐Wasikowska, Katarzyna, additional, Rascon, Jelena, additional, Russo, Ida, additional, Rutynowska‐Pronicka, Olga, additional, Sábado Álvarez, Constantino, additional, Pacheco, Sonsoles San Roman, additional, Svojgr, Karel, additional, Timmermann, Beate, additional, Vishnevskia‐Dai, Vicktoria, additional, Eggert, Angelika, additional, Ritter‐Sovinz, Petra, additional, Bechrakis, Nikolaos E., additional, Jenkinson, Helen, additional, Moll, Annette, additional, Munier, Francis L., additional, Popovic, Maja Beck, additional, Chantada, Guillermo, additional, Doz, François, additional, and Ketteler, Petra, additional

Published
2021
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50. Adjuvant therapy of histopathological risk factors of retinoblastoma in Europe: a survey by the European Retinoblastoma group (EURbG)

Author

Dittner-Moormann, Sabine, primary, Reschke, Madlen, additional, Abbink, Floor, additional, Aerts, Isabelle, additional, Atalay, Hatice, additional, Bobrova, Nadezhda Fedorovna, additional, Biewald, Eva, additional, Brecht, Ines, additional, Caspi, Shani, additional, Cassoux, Nathalie, additional, Castela, Guilherme, additional, Diarra, Yelena, additional, Duncan, Catriona, additional, Ebinger, Martin, additional, Aldana, David Garcia, additional, Hadjistilianou, Theodora, additional, Kepák, Tomáš, additional, Klett, Artur, additional, Kiratli, Hayyam, additional, Maka, Erika, additional, Opocher, Enrico, additional, Rascon, Jelena, additional, Pawińska-Wąsikowska, Katarzyna, additional, Russo, Ida, additional, Rutynowska-Pronicka, Olga, additional, Sábado, Constantino, additional, Pacheco, Sonsoles San Roman, additional, Svojgr, Karel, additional, Timmermann, Beate, additional, Vishnevskia-Dai, Vicktoria, additional, Eggert, Angelika, additional, Ritter-Sovinz, Petra, additional, Bechrakis, Nicolaos, additional, Jenkinson, Helen, additional, Moll, Annette, additional, Munier, Francis, additional, Beck-Popovic, Maja, additional, Chantada, Guillermo, additional, Doz, Francois, additional, and Ketteler, Petra, additional

Published
2020
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