Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma

Authors: Burkert, Martin ^{1, 2}, Blanc, Eric ³, Thiessen, Nina ³, Weber, Christiane ¹, Toedling, Joern ⁴, Monti, Remo ², Dombrowe, Victoria M. ², Stella de Biase, Maria ^{1, 2}, Kaufmann, Tom L. ^{2, 5, 6}, Haase, Kerstin ^{4, 11}, Waszak, Sebastian M. ^{7, 8, 10}, Eggert, Angelika ⁴, Beule, Dieter ³, Schulte, Johannes H. ⁴, Ohler, Uwe ^{1, 2, ∗}, Schwarz, Roland F. ^{2, 5, 9, 12, ∗∗}

Source: In iScience 18 October 2024 27(10)

Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.

Authors: Flynn, Aidan^1,2,3 (AUTHOR), Waszak, Sebastian M^4,5,6 (AUTHOR) sebastian.waszak@epfl.ch, Weischenfeldt, Joachim^1,2,7,8 (AUTHOR) joachim.weischenfeldt@bric.ku.dk

Source: Molecular Systems Biology. Sep2024, Vol. 20 Issue 9, p1006-1024. 19p.

Subject Terms: *IMMUNE checkpoint inhibitors, *SOMATIC mutation, *METHYLCYTOSINE, *COLORECTAL cancer, *IMMUNE response, *DNA mismatch repair

Enterosignatures define common bacterial guilds in the human gut microbiome

Authors: Frioux, Clémence, Ansorge, Rebecca, Özkurt, Ezgi, Ghassemi Nedjad, Chabname, Fritscher, Joachim, Quince, Christopher, Waszak, Sebastian M., Hildebrand, Falk

Source: In Cell Host & Microbe 12 July 2023 31(7):1111-1125

Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study

Authors: Burns, Daniel, Anokian, Ezequiel, Saunders, Edward J., Bristow, Robert G., Fraser, Michael, Reimand, Jüri, Schlomm, Thorsten, Sauter, Guido, Brors, Benedikt, Korbel, Jan, Weischenfeldt, Joachim, Waszak, Sebastian M., Corcoran, Niall M., Jung, Chol-Hee, Pope, Bernard J., Hovens, Chris M., Cancel-Tassin, Géraldine, Cussenot, Olivier, Loda, Massimo, Sander, Chris, Hayes, Vanessa M., Dalsgaard Sorensen, Karina, Lu, Yong-Jie, Hamdy, Freddie C., Foster, Christopher S., Gnanapragasam, Vincent, Butler, Adam, Lynch, Andy G., Massie, Charlie E., Woodcock, Dan J., Cooper, Colin S., Wedge, David C., Brewer, Daniel S., Kote-Jarai, Zsofia, Eeles, Rosalind A.

Source: European urology. 82(2):201-211

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167271952.0x000001&indx=1&recIds=ETOCvdc_100167271952.0x000001

Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer

Authors: Kratz, Christian P, Smirnov, Dmitrii, Autry, Robert, Jäger, Natalie, Waszak, Sebastian M, Großhennig, Anika, Berutti, Riccardo, Wendorff, Mareike, Hainaut, Pierre, Pfister, Stefan M, Prokisch, Holger, Ripperger, Tim, Malkin, David

Source: Journal of the National Cancer Institute. 114(11):1523-1532

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164805617.0x000001&indx=1&recIds=ETOCvdc_100164805617.0x000001

Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas

Authors: Przystal, Justyna M, Cianciolo Cosentino, Chiara, Yadavilli, Sridevi, Zhang, Jie, Laternser, Sandra, Bonner, Erin R, Prasad, Rachna, Dawood, Adam A, Lobeto, Nina, Chin Chong, Wai, Biery, Matt C, Myers, Carrie, Olson, James M, Panditharatna, Eshini, Kritzer, Bettina, Mourabit, Sulayman, Vitanza, Nicholas A, Filbin, Mariella G, de Iuliis, Geoffry N, Dun, Matthew D, Koschmann, Carl, Cain, Jason E, Grotzer, Michael A, Waszak, Sebastian M, Mueller, Sabine, Nazarian, Javad

Source: Neuro-oncology. 24(9):1438-1451

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159695265.0x000001&indx=1&recIds=ETOCvdc_100159695265.0x000001

Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas

Authors: Hübschmann, Daniel, Kleinheinz, Kortine, Wagener, Rabea, Bernhart, Stephan H., López, Cristina, Toprak, Umut H., Sungalee, Stephanie, Ishaque, Naveed, Kretzmer, Helene, Kreuz, Markus, Waszak, Sebastian M., Paramasivam, Nagarajan, Ammerpohl, Ole, Aukema, Sietse M., Beekman, Renée, Bergmann, Anke K., Bieg, Matthias, Binder, Hans, Borkhardt, Arndt, Borst, Christoph, Brors, Benedikt, Bruns, Philipp, Carrillo de Santa Pau, Enrique, Claviez, Alexander, Doose, Gero, Haake, Andrea, Karsch, Dennis, Haas, Siegfried, Hansmann, Martin-Leo, Hoell, Jessica I., Hovestadt, Volker, Huang, Bingding, Hummel, Michael, Jäger-Schmidt, Christina, Kerssemakers, Jules N. A., Korbel, Jan O., Kube, Dieter, Lawerenz, Chris, Lenze, Dido, Martens, Joost H. A., Ott, German, Radlwimmer, Bernhard, Reisinger, Eva, Richter, Julia, Rico, Daniel, Rosenstiel, Philip, Rosenwald, Andreas, Schillhabel, Markus, Stilgenbauer, Stephan, Stadler, Peter F., Martín-Subero, José I., Szczepanowski, Monika, Warsow, Gregor, Weniger, Marc A., Zapatka, Marc, Valencia, Alfonso, Stunnenberg, Hendrik G., Lichter, Peter, Möller, Peter, Loeffler, Markus, Eils, Roland, Klapper, Wolfram, Hoffmann, Steve, Trümper, Lorenz, Küppers, Ralf, Schlesner, Matthias, Siebert, Reiner

Source: Leukemia. 35(7):2002-2016

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193007000.0x000001&indx=1&recIds=ETOCvdc_100193007000.0x000001

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

Authors: Vo, Josh N., Franson, Andrea, Waszak, Sebastian M., Wu, Yi-Mi, Becker, Nicole, Chinnaiyan, Arul M., Robinson, Dan R.

Source: Acta Neuropathologica Communications; 12/20/2024, Vol. 12 Issue 1, p1-10, 10p

Subject Terms: TUMOR necrosis factors, YOUNG adults, ADAPTOR proteins, MEDULLOBLASTOMA, PROTHROMBIN, UBIQUITIN ligases

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

Authors: Waszak, Sebastian M, Northcott, Paul A, Buchhalter, Ivo, Robinson, Giles W, Sutter, Christian, Groebner, Susanne, Grund, Kerstin B, Brugières, Laurence, Jones, David T W, 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, Pfister, Stefan M

Source: In The Lancet Oncology June 2018 19(6):785-798

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial

Authors: Robinson, Giles W, Rudneva, Vasilisa A, Buchhalter, Ivo, Billups, Catherine A, Waszak, Sebastian M, Smith, Kyle S, Bowers, Daniel C, Bendel, Anne, Fisher, Paul G, Partap, Sonia, Crawford, John R, Hassall, Tim, Indelicato, Daniel J, Boop, Frederick, Klimo, Paul, Sabin, Noah D, Patay, Zoltan, Merchant, Thomas E, Stewart, Clinton F, Orr, Brent A, Korbel, Jan O, Jones, David T W, Sharma, Tanvi, Lichter, Peter, Kool, Marcel, Korshunov, Andrey, Pfister, Stefan M, Gilbertson, Richard J, Sanders, Robert P, Onar-Thomas, Arzu, Ellison, David W, Gajjar, Amar, Northcott, Paul A

Source: In The Lancet Oncology June 2018 19(6):768-784

The molecular landscape of ETMR at diagnosis and relapse

Authors: Lambo, Sander, Gröbner, Susanne N., Rausch, Tobias, Waszak, Sebastian M., Schmidt, Christin, Gorthi, Aparna, Romero, July Carolina, Mauermann, Monika, Brabetz, Sebastian, Krausert, Sonja, Buchhalter, Ivo, Koster, Jan, Zwijnenburg, Danny A., Sill, Martin, Hübner, Jens-Martin, Mack, Norman, Schwalm, Benjamin, Ryzhova, Marina, Hovestadt, Volker, Papillon-Cavanagh, Simon, Chan, Jennifer A., Landgraf, Pablo, Ho, Ben, Milde, Till, Witt, Olaf, Ecker, Jonas, Sahm, Felix, Sumerauer, David, Ellison, David W., Orr, Brent A., Darabi, Anna, Haberler, Christine, Figarella-Branger, Dominique, Wesseling, Pieter, Schittenhelm, Jens, Remke, Marc, Taylor, Michael D., Gil-da-Costa, Maria J., Łastowska, Maria, Grajkowska, Wiesława, Hasselblatt, Martin, Hauser, Peter, Pietsch, Torsten, Uro-Coste, Emmanuelle, Bourdeaut, Franck, Masliah-Planchon, Julien, Rigau, Valérie, Alexandrescu, Sanda, Wolf, Stephan, Li, Xiao-Nan, Schüller, Ulrich, Snuderl, Matija, Karajannis, Matthias A., Giangaspero, Felice, Jabado, Nada, von Deimling, Andreas, Jones, David T. W., Korbel, Jan O., von Hoff, Katja, Lichter, Peter, Huang, Annie, Bishop, Alexander J. R., Pfister, Stefan M., Korshunov, Andrey, Kool, Marcel

Source: Nature. 576(7786):274-280

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193369215.0x000001&indx=1&recIds=ETOCvdc_100193369215.0x000001

Rational combination platform trial design for children and young adults with diffuse midline glioma: A report from PNOC.

Authors: Mueller, Sabine, Kline, Cassie, Franson, Andrea, van der Lugt, Jasper, Prados, Michael, Waszak, Sebastian M, Plasschaert, Sabine L A, Molinaro, Annette M, Koschmann, Carl, Nazarian, Javad

Source: Neuro-Oncology; 2024 Supplement, Vol. 26, pS125-S135, 11p

Everolimus for Children With Recurrent or Progressive Low-Grade Glioma: Results From the Phase II PNOC001 Trial.

Authors: Haas-Kogan, Daphne A., Aboian, Mariam S., Minturn, Jane E., Leary, Sarah E.S., Abdelbaki, Mohamed S., Goldman, Stewart, Elster, Jennifer D., Kraya, Adam, Lueder, Matthew R., Ramakrishnan, Divya, von Reppert, Marc, Liu, Kevin X., Rokita, Jo Lynne, Resnick, Adam C., Solomon, David A., Phillips, Joanna J., Prados, Michael, Molinaro, Annette M., Waszak, Sebastian M., Mueller, Sabine

Source: Journal of Clinical Oncology; 2/1/2024, Vol. 42 Issue 4, p441-451, 16p

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

Authors: Waszak, Sebastian M., Delaneau, Olivier, Gschwind, Andreas R., Kilpinen, Helena, Raghav, Sunil K., Witwicki, Robert M., Orioli, Andrea, Wiederkehr, Michael, Panousis, Nikolaos I., Yurovsky, Alisa, Romano-Palumbo, Luciana, Planchon, Alexandra, Bielser, Deborah, Padioleau, Ismael, Udin, Gilles, Thurnheer, Sarah, Hacker, David, Hernandez, Nouria, Reymond, Alexandre, Deplancke, Bart, Dermitzakis, Emmanouil T.

Source: In Cell 27 August 2015 162(5):1039-1050

A Dual Program for Translation Regulation in Cellular Proliferation and Differentiation

Authors: Gingold, Hila, Tehler, Disa, Christoffersen, Nanna R., Nielsen, Morten M., Asmar, Fazila, Kooistra, Susanne M., Christophersen, Nicolaj S., Christensen, Lise Lotte, Borre, Michael, Sørensen, Karina D., Andersen, Lars D., Andersen, Claus L., Hulleman, Esther, Wurdinger, Tom, Ralfkiær, Elisabeth, Helin, Kristian, Grønbæk, Kirsten, Ørntoft, Torben, Waszak, Sebastian M., Dahan, Orna, Pedersen, Jakob Skou, Lund, Anders H., Pilpel, Yitzhak

Source: In Cell 11 September 2014 158(6):1281-1292

Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome.

Authors: Kolodziejczak, Anna S, Guerrini-Rousseau, Lea, Planchon, Julien Masliah, Ecker, Jonas, Selt, Florian, Mynarek, Martin, Obrecht, Denise, Sill, Martin, Autry, Robert J, Stutheit-Zhao, Eric, Hirsch, Steffen, Amouyal, Elsa, Dufour, Christelle, Ayrault, Olivier, Torrejon, Jacob, Waszak, Sebastian M, Ramaswamy, Vijay, Pentikainen, Virve, Demir, Haci Ahmet, Clifford, Steven C

Source: Neuro-Oncology; Dec2023, Vol. 25 Issue 12, p2273-2286, 14p

Pan-cancer atlas of somatic core and linker histone mutations.

Authors: Bonner, Erin R., Dawood, Adam, Gordish-Dressman, Heather, Eze, Augustine, Bhattacharya, Surajit, Yadavilli, Sridevi, Mueller, Sabine, Waszak, Sebastian M., Nazarian, Javad

Source: NPJ Genomic Medicine; 11/20/2023, Vol. 8 Issue 1, p1-14, 14p

Rounding Up Natural Gene Expression Variation during Development

Authors: Waszak, Sebastian M., Deplancke, Bart

Source: In Developmental Cell 23 December 2013 27(6):601-603

This result is not displayed to guests.
Login for full access.

Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors

Authors: Erarslan‐Uysal, Büşra, Kunz, Joachim B, Rausch, Tobias, Richter‐Pechańska, Paulina, Belzen, Ianthe AEM, Frismantas, Viktoras, Bornhauser, Beat, Ordoñez‐Rueada, Diana, Paulsen, Malte, Benes, Vladimir, Stanulla, Martin, Schrappe, Martin, Cario, Gunnar, Escherich, Gabriele, Bakharevich, Kseniya, Kirschner‐Schwabe, Renate, Eckert, Cornelia, Loukanov, Tsvetomir, Gorenflo, Matthias, Waszak, Sebastian M, Bourquin, Jean‐Pierre, Muckenthaler, Martina U, Korbel, Jan O, Kulozik, Andreas E

Source: EMBO molecular medicine. 12(9)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139496322.0x000001&indx=1&recIds=ETOCvdc_100139496322.0x000001