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Hasselblatt, M. ; Thomas, C. ; Nemes, K. ; Monoranu, C.-M. ; Riemenschneider, M. J. ; Koch, A. ; Sumerauer, D. ; Hauser, P. ; Paulus, W. ; Johann, P. ; Kool, M. ; Frühwald, M. C. Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR).
Neuropathology & applied neurobiology 46 (2 ), 186-189 (2020 ) [10.1111/nan.12560 ] 2020
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Reisinger, D. ; Gojo, J. ; Kasprian, G. ; Haberler, C. ; Peyrl, A. ; Azizi, A. A. ; Mayr, L. ; Chocholous, M. ; Kool, M. ; Czech, T. ; Slavc, I. Predisposition of Wingless Subgroup Medulloblastoma for Primary Tumor Hemorrhage.
Neurosurgery 86 (4 ), 478-484 (2020 ) [10.1093/neuros/nyz148 ] 2020
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de Rojas, T. ; Kasper, B. ; Van der Graaf, W. ; Pfister, S. M. ; Bielle, F. ; Ribalta, T. ; Shenjere, P. ; Preusser, M. ; Fröhling, S. ; Golfinopoulos, V. ; Morfouace, M. ; McCabe, M. G. EORTC SPECTA-AYA: A unique molecular profiling platform for adolescents and young adults with cancer in Europe.
International journal of cancer 147 (4 ), 1180-1184 (2020 ) [10.1002/ijc.32651 ] 2020
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Jabarkheel, R. ; Amayiri, N. ; Yecies, D. ; Huang, Y. ; Toescu, S. ; Nobre, L. ; Mabbott, D. J. ; Sudhakar, S. V. ; Malik, P. ; Laughlin, S. ; Swaidan, M. ; Al Hussaini, M. ; Musharbash, A. ; Chacko, G. ; Mathew, L. G. ; Fisher, P. G. ; Hargrave, D. ; Bartels, U. ; Tabori, U. ; Pfister, S. M. ; Aquilina, K. ; Taylor, M. D. ; Grant, G. A. ; Bouffet, E. ; Mankad, K. ; Yeom, K. W. ; Ramaswamy, V. Molecular correlates of cerebellar mutism syndrome in medulloblastoma.
Neuro-Oncology 22 (2 ), 290-297 (2020 ) [10.1093/neuonc/noz158 ] 2020
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Wefers, A. (First author) ; Stichel, D. ; Schrimpf, D. ; et al Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
Acta neuropathologica 139 (1 ), 193-209 (2020 ) [10.1007/s00401-019-02078-w ] 2020
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Benesch, M. ; Nemes, K. ; Neumayer, P. ; Hasselblatt, M. ; Timmermann, B. ; Bison, B. ; Ebetsberger-Dachs, G. ; Bourdeaut, F. ; Dufour, C. ; Biassoni, V. ; Morales La Madrid, A. ; Entz-Werle, N. ; Laithier, V. ; Quehenberger, F. ; Weis, S. ; Sumerauer, D. ; Siebert, R. ; Bens, S. ; Schneppenheim, R. ; Kool, M. ; Modena, P. ; Fouyssac, F. ; C Frühwald, M. Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.
Pediatric blood & cancer 67 (1 ), e28022 (2020 ) [10.1002/pbc.28022 ] 2020
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Begemann, M. ; Waszak, S. M. ; Robinson, G. W. ; Jäger, N. ; Sharma, T. ; Knopp, C. ; Kraft, F. ; Moser, O. ; Mynarek, M. ; Guerrini-Rousseau, L. ; Brugieres, L. ; Varlet, P. ; Pietsch, T. ; Bowers, D. C. ; Chintagumpala, M. ; Sahm, F. ; Korbel, J. O. ; Rutkowski, S. ; Eggermann, T. ; Gajjar, A. ; Northcott, P. ; Elbracht, M. ; Pfister, S. M. ; Kontny, U. ; Kurth, I. Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Journal of clinical oncology 38 (1 ), 43-50 (2020 ) [10.1200/JCO.19.00577 ] 2020
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Neumann, J. E. ; Spohn, M. ; Obrecht, D. ; Mynarek, M. ; Thomas, C. ; Hasselblatt, M. ; Dorostkar, M. M. ; Wefers, A. K. ; Frank, S. ; Monoranu, C.-M. ; Koch, A. ; Witt, H. ; Kool, M. ; Pajtler, K. W. ; Rutkowski, S. ; Glatzel, M. ; Schüller, U. Molecular characterization of histopathological ependymoma variants.
Acta neuropathologica 139 (2 ), 305-318 (2020 ) [10.1007/s00401-019-02090-0 ] 2020
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Chattopadhyay, S. (First author) ; Thomsen, H. ; Weinhold, N. ; Meziane, I. ; Huhn, S. ; da Silva Filho, M. I. ; Vodicka, P. ; Vodickova, L. ; Hoffmann, P. ; Nöthen, M. M. ; Jöckel, K.-H. ; Schmidt, B. ; Landi, S. ; Hajek, R. ; Hallmans, G. ; Pettersson-Kymmer, U. ; Ohlsson, C. ; Milani, P. ; Merlini, G. ; Rowcieno, D. ; Hawkins, P. ; Hegenbart, U. ; Palladini, G. ; Wechalekar, A. ; Schönland, S. O. ; Houlston, R. ; Goldschmidt, H. ; Hemminki, K. ; Försti, A. (Last author) Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance.
Leukemia 34 (4 ), 1187-1191 (2020 ) [10.1038/s41375-019-0619-1 ] 2020
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Sievers, P. (First author) ; Schrimpf, D. ; Stichel, D. ; Reuss, D. E. ; Hasselblatt, M. ; Hagel, C. ; Staszewski, O. ; Hench, J. ; Frank, S. ; Brandner, S. ; Korshunov, A. ; Wick, W. ; Pfister, S. M. ; Reifenberger, G. ; von Deimling, A. ; Sahm, F. (Last author) ; Jones, D. (Last author) Posterior fossa pilocytic astrocytomas with oligodendroglial features show frequent FGFR1 activation via fusion or mutation.
Acta neuropathologica 139 (2 ), 403-406 (2020 ) [10.1007/s00401-019-02097-7 ] 2020
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Thomas, C. ; Wefers, A. ; Bens, S. ; Nemes, K. ; Agaimy, A. ; Oyen, F. ; Vogelgesang, S. ; Rodriguez, F. J. ; Brett, F. M. ; McLendon, R. ; Bodi, I. ; Burel-Vandenbos, F. ; Keyvani, K. ; Tippelt, S. ; Poulsen, F. R. ; Lipp, E. S. ; Giannini, C. ; Reifenberger, G. ; Kuchelmeister, K. ; Pietsch, T. ; Kordes, U. ; Siebert, R. ; Frühwald, M. C. ; Johann, P. D. ; Sill, M. ; Kool, M. ; von Deimling, A. ; Paulus, W. ; Hasselblatt, M. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
Acta neuropathologica 139 (2 ), 277-286 (2020 ) [10.1007/s00401-019-02094-w ] 2020
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Sievers, P. (First author) ; Chiang, J. ; Schrimpf, D. ; Stichel, D. ; Paramasivam, N. ; Sill, M. ; Gayden, T. ; Casalini, B. ; Reuss, D. E. ; Dalton, J. ; Pajtler, K. W. ; Hänggi, D. ; Herold-Mende, C. ; Rushing, E. ; Korshunov, A. ; Mawrin, C. ; Weller, M. ; Schlesner, M. ; Wick, W. ; Jabado, N. ; Jones, D. T. W. ; Pfister, S. M. ; von Deimling, A. ; Ellison, D. W. ; Sahm, F. (Last author) YAP1-fusions in pediatric NF2-wildtype meningioma.
Acta neuropathologica 139 (1 ), 215-218 (2020 ) [10.1007/s00401-019-02095-9 ] 2020
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Bleeke, M. ; Johann, P. ; Gröbner, S. ; Alten, J. ; Cario, G. ; Schäfer, H. ; Klapper, W. ; Khoury, J. ; Pfister, S. ; Müller, I. Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients.
Pediatric blood & cancer 67 (2 ), e28074 (2020 ) [10.1002/pbc.28074 ] 2020
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Pfaff, E. (First author) ; Aichmüller, C. ; Sill, M. ; Stichel, D. ; Snuderl, M. ; Karajannis, M. A. ; Schuhmann, M. U. ; Schittenhelm, J. ; Hasselblatt, M. ; Thomas, C. ; Korshunov, A. ; Rhizova, M. ; Wittmann, A. ; Kaufhold, A. ; Iskar, M. ; Ketteler, P. ; Lohmann, D. ; Orr, B. A. ; Ellison, D. W. ; von Hoff, K. ; Mynarek, M. ; Rutkowski, S. ; Sahm, F. ; von Deimling, A. ; Lichter, P. ; Kool, M. ; Zapatka, M. ; Pfister, S. M. ; Jones, D. (Last author) Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
Acta neuropathologica 139 (2 ), 243-257 (2020 ) [10.1007/s00401-019-02101-0 ] 2020
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Korshunov, A. (First author) ; Okonechnikov, K. ; Sahm, F. ; Ryzhova, M. ; Stichel, D. ; Schrimpf, D. ; Ghasemi, D. R. ; Pajtler, K. W. ; Antonelli, M. ; Donofrio, V. ; Mastronuzzi, A. ; Rossi, S. ; Camassei, F. D. ; Buccoliero, A. M. ; Haberler, C. ; Slavc, I. ; Dahiya, S. ; Casalini, B. ; Sievers, P. ; Meyer, J. ; Kumirova, E. ; Zheludkova, O. ; Golanov, A. ; Jones, D. T. W. ; Pfister, S. M. ; Kool, M. ; von Deimling, A. (Last author) Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
Acta neuropathologica 139 (3 ), 583-596 (2020 ) [10.1007/s00401-019-02102-z ] 2020
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Pickles, J. C. ; Fairchild, A. R. ; Stone, T. J. ; Brownlee, L. ; Merve, A. ; Yasin, S. A. ; Avery, A. ; Ahmed, S. W. ; Ogunbiyi, O. ; Gonzalez Zapata, J. ; Peary, A. F. ; Edwards, M. ; Wilkhu, L. ; Dryden, C. ; Ladon, D. ; Kristiansen, M. ; Rowe, C. ; Kurian, K. M. ; Nicoll, J. A. R. ; Mitchell, C. ; Bloom, T. ; Hilton, D. A. ; Al-Sarraj, S. ; Doey, L. ; Johns, P. N. ; Bridges, L. R. ; Chakrabarty, A. ; Ismail, A. ; Rathi, N. ; Syed, K. ; Lammie, G. A. ; Limback-Stanic, C. ; Smith, C. ; Torgersen, A. ; Rae, F. ; Hill, R. M. ; Clifford, S. C. ; Grabovska, Y. ; Williamson, D. ; Clarke, M. ; Jones, C. ; Capper, D. ; Sill, M. ; von Deimling, A. ; Pfister, S. M. ; Jones, D. T. W. ; Hargrave, D. ; Chalker, J. ; Jacques, T. S. DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study.
The lancet child & adolescent health 4 (2 ), 121-130 (2020 ) [10.1016/S2352-4642(19)30342-6 ] 2020
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Kommoss, F. K. F. ; Stichel, D. ; Schrimpf, D. ; Kriegsmann, M. ; Tessier-Cloutier, B. ; Talhouk, A. ; McAlpine, J. N. ; Chang, K. T. E. ; Sturm, D. ; Pfister, S. M. ; Romero-Pérez, L. ; Kirchner, T. ; Grünewald, T. G. P. ; Buslei, R. ; Sinn, H.-P. ; Mechtersheimer, G. ; Schirmacher, P. ; Schmidt, D. ; Lehr, H.-A. ; Sahm, F. ; Huntsman, D. G. ; Gilks, C. B. ; Kommoss, F. ; von Deimling, A. (Last author) ; Koelsche, C. DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics.213
Journal of cancer research and clinical oncology 146 (1 ), 97-104 (2020 ) [10.1007/s00432-019-03093-w ] 2020
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Chattopadhyay, S. (First author) ; Zheng, G. ; Hemminki, A. ; Försti, A. ; Sundquist, K. ; Sundquist, J. ; Hemminki, K. (Last author) Influence of family history on risk of second primary cancers and survival in squamous cell skin cancer patients.
British journal of dermatology 183 (3 ), 488-494 (2020 ) [10.1111/bjd.18809 ] 2020
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Hovestadt, V. ; Ayrault, O. ; Swartling, F. J. ; Robinson, G. W. ; Pfister, S. ; Northcott, P. A. Medulloblastomics revisited: biological and clinical insights from thousands of patients.
Nature reviews / Cancer Cancer [...] 20 (1 ), 42 - 56 (2020 ) [10.1038/s41568-019-0223-8 ] 2020
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Catalano, C. (First author) ; da Silva Filho, M. I. ; Frank, C. ; Lu, S. ; Jiraskova, K. ; Vymetalkova, V. ; Levy, M. ; Liska, V. ; Vycital, O. ; Naccarati, A. ; Vodickova, L. ; Hemminki, K. ; Vodicka, P. ; Weber, A. N. R. ; Försti, A. (Last author) Epistatic effect of TLR3 and cGAS-STING-IKK?-TBK1-IFN signaling variants on colorectal cancer risk.
Cancer medicine 9 (4 ), 1473-1484 (2020 ) [10.1002/cam4.2804 ] 2020
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Deng, M. Y. (First author) ; Sill, M. ; Sturm, D. ; Stichel, D. ; Witt, H. ; Ecker, J. ; Wittmann, A. ; Schittenhelm, J. ; Ebinger, M. ; Schuhmann, M. U. ; Figarella-Branger, D. ; Aronica, E. ; Staszewski, O. ; Preusser, M. ; Haberler, C. ; Lauten, M. ; Schüller, U. ; Hartmann, C. ; Snuderl, M. ; Dunham, C. ; Jabado, N. ; Wesseling, P. ; Deckert, M. ; Keyvani, K. ; Gottardo, N. ; Giangaspero, F. ; von Hoff, K. ; Ellison, D. W. ; Pietsch, T. ; Herold Mende, C. ; Milde, T. ; Witt, O. ; Kool, M. ; Korshunov, A. ; Wick, W. ; von Deimling, A. ; Pfister, S. M. ; Jones, D. T. W. ; Sahm, F. (Last author) Diffuse Glioneuronal tumour with Oligodendroglioma-like features and Nuclear Clusters (DGONC) - a molecularly-defined glioneuronal CNS tumour class displaying recurrent monosomy 14.
Neuropathology & applied neurobiology 46 (5 ), 422-430 (2020 ) [10.1111/nan.12590 ] 2020
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Frühwald, M. C. ; Hasselblatt, M. ; Nemes, K. ; Bens, S. ; Steinbügl, M. ; Johann, P. D. ; Kerl, K. ; Hauser, P. ; Quiroga, E. ; Solano-Paez, P. ; Biassoni, V. ; Gil-da-Costa, M. J. ; Perek-Polnik, M. ; van de Wetering, M. ; Sumerauer, D. ; Pears, J. ; Stabell, N. ; Holm, S. ; Hengartner, H. ; Gerber, N. U. ; Grotzer, M. ; Boos, J. ; Ebinger, M. ; Tippelt, S. ; Paulus, W. ; Furtwängler, R. ; Hernáiz-Driever, P. ; Reinhard, H. ; Rutkowski, S. ; Schlegel, P.-G. ; Schmid, I. ; Kortmann, R.-D. ; Timmermann, B. ; Warmuth-Metz, M. ; Kordes, U. ; Gerss, J. ; Nysom, K. ; Schneppenheim, R. ; Siebert, R. ; Kool, M. (Last author) ; Graf, N. Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT).
Neuro-Oncology 22 (7 ), 1006-1017 (2020 ) [10.1093/neuonc/noz244 ] 2020
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Ho, B. ; Johann, P. D. ; Grabovska, Y. ; Andrianteranagna, M. J. D. D. ; Yao, F. P. ; Frühwald, M. ; Hasselblatt, M. ; Bourdeaut, F. ; Williamson, D. ; Huang, A. ; Kool, M. (Last author) Molecular subgrouping of Atypical Teratoid / Rhabdoid Tumors (ATRT) - a reinvestigation and current consensus.
Neuro-Oncology 22 (5 ), 613-624 (2020 ) [10.1093/neuonc/noz235 ] 2020
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Dyberg, C. ; Andonova, T. ; Olsen, T. K. ; Brodin, B. ; Kool, M. ; Kogner, P. ; Johnsen, J. I. ; Wickström, M. Inhibition of Rho-Associated Kinase Suppresses Medulloblastoma Growth.
Cancers 12 (1 ), 73 (2020 ) [10.3390/cancers12010073 ] 2020
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Sari?, N. ; Selby, M. ; Ramaswamy, V. ; Kool, M. ; Stockinger, B. ; Hogstrand, C. ; Williamson, D. ; Marino, S. ; Taylor, M. D. ; Clifford, S. C. ; Basson, M. A. The AHR pathway represses TGF?-SMAD3 signalling and has a potent tumour suppressive role in SHH medulloblastoma.
Scientific reports 10 (1 ), 148 (2020 ) [10.1038/s41598-019-56876-z ] 2020
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Maros, M. E. ; Capper, D. ; Jones, D. T. W. ; Hovestadt, V. ; von Deimling, A. ; Pfister, S. M. ; Benner, A. ; Zucknick, M. ; Sill, M. (Last author) Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data.
Nature protocols 15 (2 ), 479-512 (2020 ) [10.1038/s41596-019-0251-6 ] 2020
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Fresnais, M. (First author) ; Muck, A. ; Majewsky, M. ; Statz, B. ; Krausert, S. ; Benzel, J. ; Castel, D. ; Le Dret, L. ; Pfister, S. ; Haefeli, W. E. ; Burhenne, J. ; Longuespée, R. Rapid and Sensitive Drug Quantification in Tissue Sections Using Matrix Assisted Laser Desorption Ionization-Ion Mobility-Mass Spectrometry Profiling.
Journal of the American Society for Mass Spectrometry 31 (3 ), 742-751 (2020 ) [ 10.1021/jasms.0c00005 ] 2020
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Group, P. T. C. (Collaboration Author) ; Calabrese, C. ; Davidson, N. R. ; et al Genomic basis for RNA alterations in cancer.
Nature <London> 578 (7793 ), 129 - 136 (2020 ) [10.1038/s41586-020-1970-0 ] 2020
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Gerstung, M. ; Jolly, C. ; Leshchiner, I. ; Dentro, S. ; Gonzalez, S. ; Rosebrock, D. ; Mitchell, T. J. ; Rubanova, Y. ; Anur, P. ; Yu, K. ; Tarabichi, M. ; Deshwar, A. ; Wintersinger, J. ; Kleinheinz, K. ; Vázquez-García, I. ; Haase, K. ; Jerman, L. ; Sengupta, S. ; Macintyre, G. ; Malikic, S. ; Donmez, N. ; Livitz, D. G. ; Cmero, M. ; Demeulemeester, J. ; Schumacher, S. ; Fan, Y. ; Yao, X. ; Lee, J. ; Schlesner, M. ; Boutros, P. C. ; Bowtell, D. D. ; Zhu, H. ; Getz, G. ; Imielinski, M. ; Beroukhim, R. ; Sahinalp, S. C. ; Ji, Y. ; Peifer, M. ; Markowetz, F. ; Mustonen, V. ; Yuan, K. ; Wang, W. ; Morris, Q. D. ; PCAWGEvolution&HeterogeneityWorkingGroup ; Spellman, P. T. ; Wedge, D. C. ; Van Loo, P. ; PCAWGConsortium The evolutionary history of 2,658 cancers.
Nature <London> 578 (7793 ), 122 - 128 (2020 ) [10.1038/s41586-019-1907-7 ] 2020
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Sieverling, L. (First author) ; Hong, C. ; Koser, S. D. ; et al Genomic footprints of activated telomere maintenance mechanisms in cancer.
Nature Communications 11 (1 ), 733 (2020 ) [10.1038/s41467-019-13824-9 ] 2020
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Packer, R. J. ; Iavarone, A. ; Jones, D. T. W. ; Blakeley, J. O. ; Bouffet, E. ; Fisher, M. J. ; Hwang, E. ; Hawkins, C. ; Kilburn, L. ; MacDonald, T. ; Pfister, S. M. ; Rood, B. ; Rodriguez, F. J. ; Tabori, U. ; Ramaswamy, V. ; Zhu, Y. ; Fangusaro, J. ; Johnston, S. A. ; Gutmann, D. H. Implications of New Understandings of Gliomas in Children and Adults with NF1: Report of a Consensus Conference.
Neuro-Oncology 22 (6 ), 773-784 (2020 ) [10.1093/neuonc/noaa036 ] 2020
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Tomasova, K. ; Kroupa, M. ; Forsti, A. ; Vodicka, P. ; Vodickova, L. Telomere maintenance in interplay with DNA repair in pathogenesis and treatment of colorectal cancer.
Mutagenesis 35 (3 ), 261-271 (2020 ) [10.1093/mutage/geaa005 ] 2020
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Hong, D. S. ; DuBois, S. G. ; Kummar, S. ; Farago, A. F. ; Albert, C. M. ; Rohrberg, K. S. ; van Tilburg, C. M. ; Nagasubramanian, R. ; Berlin, J. D. ; Federman, N. ; Mascarenhas, L. ; Geoerger, B. ; Dowlati, A. ; Pappo, A. S. ; Bielack, S. ; Doz, F. ; McDermott, R. ; Patel, J. D. ; Schilder, R. J. ; Tahara, M. ; Pfister, S. M. ; Witt, O. ; Ladanyi, M. ; Rudzinski, E. R. ; Nanda, S. ; Childs, B. H. ; Laetsch, T. W. ; Hyman, D. M. ; Drilon, A. Larotrectinib in patients with TRK fusion-positive solid tumours: a pooled analysis of three phase 1/2 clinical trials.
The lancet <London> / Oncology Oncology 21 (4 ), 531-540 (2020 ) [10.1016/S1470-2045(19)30856-3 ] 2020
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Horak, P. (First author) ; Uhrig, S. ; Witzel, M. ; Gil-Farina, I. ; Hutter, B. ; Rath, T. ; Gieldon, L. ; Balasubramanian, G. P. ; Pastor, X. ; Heilig, C. E. ; Richter, D. ; Schröck, E. ; Ball, C. R. ; Brors, B. ; Braun, C. J. ; Albert, M. H. ; Scholl, C. ; von Kalle, C. ; Schmidt, M. ; Fröhling, S. ; Klein, C. ; Glimm, H. Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia.
Leukemia 34 (10 ), 2785-2789 (2020 ) [10.1038/s41375-020-0779-z ] 2020
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Calandrini, C. ; Schutgens, F. ; Oka, R. ; Margaritis, T. ; Candelli, T. ; Mathijsen, L. ; Ammerlaan, C. ; van Ineveld, R. L. ; Derakhshan, S. ; de Haan, S. ; Dolman, E. ; Lijnzaad, P. ; Custers, L. ; Begthel, H. ; Kerstens, H. H. D. ; Visser, L. L. ; Rookmaaker, M. ; Verhaar, M. ; Tytgat, G. A. M. ; Kemmeren, P. ; de Krijger, R. R. ; Al-Saadi, R. ; Pritchard-Jones, K. ; Kool, M. ; Rios, A. C. ; van den Heuvel-Eibrink, M. M. ; Molenaar, J. J. ; van Boxtel, R. ; Holstege, F. C. P. ; Clevers, H. ; Drost, J. An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity.
Nature Communications 11 (1 ), 1310 (2020 ) [10.1038/s41467-020-15155-6 ] 2020
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Aichmüller, C. (First author) ; Iskar, M. ; Jones, D. T. W. ; Korshunov, A. ; Radlwimmer, B. ; Kool, M. ; Ernst, A. ; Pfister, S. M. ; Lichter, P. ; Zapatka, M. (Last author) Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response.
Neuro-Oncology 22 (9 ), 1327-1338 (2020 ) [10.1093/neuonc/noaa035 ] 2020
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Castel, D. ; Kergrohen, T. ; Tauziède-Espariat, A. ; Mackay, A. ; Ghermaoui, S. ; Lechapt, E. ; Pfister, S. M. ; Kramm, C. M. ; Boddaert, N. ; Blauwblomme, T. ; Puget, S. ; Beccaria, K. ; Jones, C. ; Jones, D. T. W. ; Varlet, P. ; Grill, J. ; Debily, M.-A. Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation.
Acta neuropathologica 139 (5 ), 1109-1113 (2020 ) [10.1007/s00401-020-02142-w ] 2020
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Schubert, N. A. ; Lowery, C. D. ; Bergthold, G. ; Koster, J. ; Eleveld, T. F. ; Rodríguez, A. ; Jones, D. T. W. ; German Cancer Research Center , H. (DKFZ) ; Vassal, G. ; Stancato, L. F. ; Pfister, S. M. ; German Cancer Research Center , H. (DKFZ) ; Heidelberg University Hospital, H. ; Caron, H. N. ; Molenaar, J. J. Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers.
European journal of cancer 130 , 168 - 181 (2020 ) [10.1016/j.ejca.2020.01.027 ] 2020
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Clarke, M. ; Mackay, A. ; Ismer, B. ; et al Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.
Cancer discovery 10 (7 ), 942-963 (2020 ) [10.1158/2159-8290.CD-19-1030 ] 2020
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Waszak, S. ; Robinson, G. ; Gudenas, B. L. ; et al Germline Elongator mutations in Sonic Hedgehog medulloblastoma
Nature <London> 580 (7803 ), 396 - 401 (2020 ) [10.1038/s41586-020-2164-5 ] 2020
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Johann, P. D. (Last author) Invited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond.
Neuropathology & applied neurobiology 46 (1 ), 57 - 72 (2020 ) [10.1111/nan.12616 ] 2020
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Srivastava, A. (First author) ; Giangiobbe, S. (First author) ; Kumar, A. ; Paramasivam, N. ; Dymerska, D. ; Behnisch, W. ; Witzens-Harig, M. ; Lubinski, J. ; Hemminki, K. ; Försti, A. ; Bandapalli, O. R. (Last author) Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.
Frontiers in Bioengineering and Biotechnology 8 , 179 (2020 ) [10.3389/fbioe.2020.00179 ] 2020
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Mynarek, M. ; von Hoff, K. ; Pietsch, T. ; Ottensmeier, H. ; Warmuth-Metz, M. ; Bison, B. ; Pfister, S. ; Korshunov, A. ; Sharma, T. ; Jaeger, N. ; Ryzhova, M. ; Zheludkova, O. ; Golanov, A. ; Rushing, E. J. ; Hasselblatt, M. ; Koch, A. ; Schüller, U. ; von Deimling, A. ; Sahm, F. ; Sill, M. ; Riemenschneider, M. J. ; Dohmen, H. ; Monoranu, C. M. ; Sommer, C. ; Staszewski, O. ; Mawrin, C. ; Schittenhelm, J. ; Brück, W. ; Filipski, K. ; Hartmann, C. ; Meinhardt, M. ; Pietschmann, K. ; Haberler, C. ; Slavc, I. ; Gerber, N. U. ; Grotzer, M. ; Benesch, M. ; Schlegel, P. G. ; Deinlein, F. ; von Bueren, A. O. ; Friedrich, C. ; Juhnke, B.-O. ; Obrecht, D. ; Fleischhack, G. ; Kwiecien, R. ; Faldum, A. ; Kortmann, R. D. ; Kool, M. ; Rutkowski, S. Nonmetastatic Medulloblastoma of Early Childhood: Results From the Prospective Clinical Trial HIT-2000 and An Extended Validation Cohort.
Journal of clinical oncology 38 (18 ), 2028-2040 (2020 ) [10.1200/JCO.19.03057 ] 2020
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Theruvath, J. ; Sotillo, E. ; Mount, C. W. ; Graef, C. M. ; Delaidelli, A. ; Heitzeneder, S. ; Labanieh, L. ; Dhingra, S. ; Leruste, A. ; Majzner, R. G. ; Xu, P. ; Mueller, S. ; Yecies, D. W. ; Finetti, M. A. ; Williamson, D. ; Johann, P. D. ; Kool, M. ; Pfister, S. ; Hasselblatt, M. ; Frühwald, M. C. ; Delattre, O. ; Surdez, D. ; Bourdeaut, F. ; Puget, S. ; Zaidi, S. ; Mitra, S. S. ; Cheshier, S. ; Sorensen, P. H. ; Monje, M. ; Mackall, C. L. Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors.
Nature medicine 26 (5 ), 712-719 (2020 ) [10.1038/s41591-020-0821-8 ] 2020
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Bremer, J. ; Kottke, R. ; Johann, P. D. ; von Hoff, K. ; Brazzola, P. ; Grotzer, M. A. ; Kool, M. ; Rushing, E. ; Gerber, N. U. A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival.
Pediatric blood & cancer 67 (7 ), e28384 (2020 ) [10.1002/pbc.28384 ] 2020
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van Tilburg, C. M. (First author) ; Witt, R. ; Heiss, M. ; Pajtler, K. W. ; Plass, C. ; Poschke, I. ; Platten, M. ; Harting, I. ; Sedlaczek, O. ; Freitag, A. ; Meyrath, D. ; Taylor, L. ; Balasubramanian, G. P. ; Jäger, N. ; Pfaff, E. ; Jones, B. C. ; Milde, T. ; Pfister, S. M. ; Jones, D. T. W. ; Kopp-Schneider, A. ; Witt, O. (Last author) INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies
BMC cancer 20 (1 ), 523 (2020 ) [10.1186/s12885-020-07008-8 ] 2020
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ICGC/TCGAPan-CancerAnalysisofWholeGenomesConsortium Pan-cancer analysis of whole genomes.
Nature <London> 578 (7793 ), 82 - 93 (2020 ) [10.1038/s41586-020-1969-6 ] 2020
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Ellison, D. W. ; Aldape, K. D. ; Capper, D. ; Fouladi, M. ; Gilbert, M. R. ; Gilbertson, R. J. ; Hawkins, C. ; Merchant, T. ; Pajtler, K. ; Venneti, S. ; Louis, D. N. cIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors.
Brain pathology 30 (5 ), 863-866 (2020 ) [10.1111/bpa.12866 ] 2020
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Srivastava, A. (First author) ; Miao, B. (First author) ; Skopelitou, D. ; Kumar, V. ; Kumar, A. ; Paramasivam, N. ; Bonora, E. ; Hemminki, K. ; Försti, A. (Last author) ; Bandapalli, O. R. (Last author) A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
Cancers 12 (6 ), 1441 (2020 ) [10.3390/cancers12061441 ] 2020
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Weber, J. ; Braun, C. J. ; Saur, D. ; Rad, R. In vivo functional screening for systems-level integrative cancer genomics.
Nature reviews / Cancer Cancer 20 (10 ), 573-593 (2020 ) [10.1038/s41568-020-0275-9 ] 2020
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Usta, D. (First author) ; Sigaud, R. ; Buhl, J. L. ; Selt, F. ; Marquardt, V. ; Pauck, D. ; Jansen, J. ; Pusch, S. ; Ecker, J. ; Hielscher, T. ; Vollmer, J. ; Sommerkamp, A. C. ; Rubner, T. ; Hargrave, D. ; van Tilburg, C. M. ; Pfister, S. M. ; Jones, D. T. W. ; Remke, M. ; Brummer, T. ; Witt, O. ; Milde, T. (Last author) A cell-based MAPK reporter assay reveals synergistic MAPK pathway activity suppression by MAPK inhibitor combination in BRAF-driven pediatric low-grade glioma cells.
Molecular cancer therapeutics 19 (8 ), 1736-1750 (2020 ) [10.1158/1535-7163.MCT-19-1021 ] 2020
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Sievers, P. (First author) ; Hielscher, T. ; Schrimpf, D. ; Stichel, D. ; Reuss, D. E. ; Berghoff, A. S. ; Neidert, M. C. ; Wirsching, H.-G. ; Mawrin, C. ; Ketter, R. ; Paulus, W. ; Reifenberger, G. ; Lamszus, K. ; Westphal, M. ; Etminan, N. ; Ratliff, M. ; Herold-Mende, C. ; Pfister, S. M. ; Jones, D. T. W. ; Weller, M. ; Harter, P. N. ; Wick, W. ; Preusser, M. ; von Deimling, A. ; Sahm, F. (Last author) CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas.
Acta neuropathologica 140 (3 ), 409-413 (2020 ) [10.1007/s00401-020-02188-w ] 2020
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Sommerkamp, A. (First author) ; Uhrig, S. ; Stichel, D. ; St-Onge, P. ; Sun, P. ; Jäger, N. ; von Deimling, A. ; Sahm, F. ; Pfister, S. M. ; Korshunov, A. ; Sinnett, D. ; Jabado, N. ; Wefers, A. K. ; Jones, D. (Last author) An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data.
Acta neuropathologica 140 (2 ), 237-239 (2020 ) [10.1007/s00401-020-02167-1 ] 2020
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Went, M. ; Cornish, A. J. ; Law, P. J. ; Kinnersley, B. ; van Duin, M. ; Weinhold, N. ; Försti, A. ; Hansson, M. ; Sonneveld, P. ; Goldschmidt, H. ; Morgan, G. J. ; Hemminki, K. ; Nilsson, B. ; Kaiser, M. ; Houlston, R. S. Search for multiple myeloma risk factors using Mendelian randomization.
Blood advances 4 (10 ), 2172 - 2179 (2020 ) [10.1182/bloodadvances.2020001502 ] 2020
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Sill, M. (First author) ; Plass, C. ; Pfister, S. M. ; Lipka, D. (Last author) Molecular tumor classification using DNA methylome analysis.
Human molecular genetics 29 (R2 ), R205-R213 (2020 ) [10.1093/hmg/ddaa147 ] 2020
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Blunk, I. ; Thomsen, H. ; Reinsch, N. ; Mayer, M. ; Försti, A. ; Sundquist, J. ; Sundquist, K. ; Hemminki, K. (Last author) Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.
Scientific reports 10 (1 ), 11562 (2020 ) [10.1038/s41598-020-68212-x ] 2020
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Gojo, J. ; Englinger, B. ; Jiang, L. ; Hübner, J. M. ; Shaw, M. L. ; Hack, O. A. ; Madlener, S. ; Kirchhofer, D. ; Liu, I. ; Pyrdol, J. ; Hovestadt, V. ; Mazzola, E. ; Mathewson, N. D. ; Trissal, M. ; Lötsch, D. ; Dorfer, C. ; Haberler, C. ; Halfmann, A. ; Mayr, L. ; Peyrl, A. ; Geyeregger, R. ; Schwalm, B. ; Mauermann, M. ; Pajtler, K. W. ; Milde, T. ; Shore, M. E. ; Geduldig, J. E. ; Pelton, K. ; Czech, T. ; Ashenberg, O. ; Wucherpfennig, K. W. ; Rozenblatt-Rosen, O. ; Alexandrescu, S. ; Ligon, K. L. ; Pfister, S. M. ; Regev, A. ; Slavc, I. ; Berger, W. ; Suvà, M. L. ; Kool, M. (Last author) ; Filbin, M. G. Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma.
Cancer cell 38 (1 ), 44 - 59.e9 (2020 ) [10.1016/j.ccell.2020.06.004 ] 2020
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Sánchez-Maldonado, J. M. ; Campa, D. ; Springer, J. ; Badiola, J. ; Niazi, Y. ; Moñiz-Díez, A. ; Hernández-Mohedo, F. ; González-Sierra, P. ; Ter Horst, R. ; Macauda, A. ; Brezina, S. ; Cunha, C. ; Lackner, M. ; López-Nevot, M. A. ; Fianchi, L. ; Pagano, L. ; López-Fernández, E. ; Potenza, L. ; Luppi, M. ; Moratalla, L. ; Rodríguez-Sevilla, J. J. ; Fonseca, J. E. ; Tormo, M. ; Solano, C. ; Clavero, E. ; Romero, A. ; Li, Y. ; Lass-Flörl, C. ; Einsele, H. ; Vazquez, L. ; Loeffler, J. ; Hemminki, K. ; Carvalho, A. ; Netea, M. G. ; Gsur, A. ; Dumontet, C. ; Canzian, F. ; Försti, A. ; Jurado, M. ; Sainz, J. Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium.
Blood cancer journal 10 (7 ), 75 (2020 ) [10.1038/s41408-020-00341-y ] 2020
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Szulzewsky, F. ; Arora, S. ; Hoellerbauer, P. ; King, C. ; Nathan, E. ; Chan, M. ; Cimino, P. J. ; Ozawa, T. ; Kawauchi, D. ; Pajtler, K. W. ; Gilbertson, R. J. ; Paddison, P. J. ; Vasioukhin, V. ; Gujral, T. S. ; Holland, E. C. Comparison of tumor-associated YAP1 fusions identifies a recurrent set of functions critical for oncogenesis.
Genes & development 34 (15-16 ), 1051-1064 (2020 ) [10.1101/gad.338681.120 ] 2020
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Fresnais, M. ; Roth, A. ; Foerster, K. I. ; Jäger, D. ; Pfister, S. M. ; Haefeli, W. E. ; Burhenne, J. ; Longuespée, R. Rapid and Sensitive Quantification of Osimertinib in Human Plasma Using a Fully Validated MALDI-IM-MS/MS Assay.
Cancers 12 (7 ), E1897 (2020 ) [10.3390/cancers12071897 ] 2020
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Lambo, S. (First author) ; von Hoff, K. ; Korshunov, A. ; Pfister, S. M. ; Kool, M. (Last author) ETMR: a tumor entity in its infancy
Acta neuropathologica 140 (3 ), 249-266 (2020 ) [10.1007/s00401-020-02182-2 ] 2020
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Thomsen, H. (First author) ; Li, X. ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, K. (Last author) Familial risks between Graves disease and Hashimoto thyroiditis and other autoimmune diseases in the population of Sweden.
Journal of translational autoimmunity 3 , 100058 (2020 ) [10.1016/j.jtauto.2020.100058 ] 2020
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Susanto, E. ; Marin Navarro, A. ; Zhou, L. ; Sundström, A. ; van Bree, N. ; Stantic, M. ; Moslem, M. ; Tailor, J. ; Rietdijk, J. ; Zubillaga, V. ; Hübner, J.-M. ; Weishaupt, H. ; Wolfsberger, J. ; Alafuzoff, I. ; Nordgren, A. ; Magnaldo, T. ; Siesjö, P. ; Johnsen, J. I. ; Kool, M. ; Tammimies, K. ; Darabi, A. ; Swartling, F. J. ; Falk, A. ; Wilhelm, M. Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells.
Proceedings of the National Academy of Sciences of the United States of America 117 (33 ), 20127-20138 (2020 ) [10.1073/pnas.1920521117 ] 2020
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Hemminki, K. (First author) ; Srivastava, A. ; Rachakonda, S. ; Bandapalli, O. ; Nagore, E. ; Hemminki, A. ; Kumar, R. (Last author) Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.
Hereditary cancer in clinical practice 18 (1 ), 15 (2020 ) [10.1186/s13053-020-00146-x ] 2020
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Becker, M. ; Noll-Puchta, H. ; Amend, D. ; Nolte, F. ; Fuchs, C. ; Jeremias, I. ; Braun, C. J. (Last author) CLUE: a bioinformatic and wet-lab pipeline for multiplexed cloning of custom sgRNA libraries.
Nucleic acids research 48 (13 ), e78 (2020 ) [10.1093/nar/gkaa459 ] 2020
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Banan, R. ; Stichel, D. ; Bleck, A. ; Hong, B. ; Lehmann, U. ; Suwala, A. ; Reinhardt, A. ; Schrimpf, D. ; Buslei, R. ; Stadelmann, C. ; Ehlert, K. ; Prinz, M. ; Acker, T. ; Schittenhelm, J. ; Kaul, D. ; Schweizer, L. ; Capper, D. ; Harter, P. ; Etminan, N. ; Jones, D. T. W. ; Pfister, S. M. ; Herold-Mende, C. ; Wick, W. ; Sahm, F. ; von Deimling, A. ; Hartmann, C. ; Reuß, D. (Last author) Infratentorial IDH-mutant astrocytoma is a distinct subtype.
Acta neuropathologica 140 (4 ), 569-581 (2020 ) [10.1007/s00401-020-02194-y ] 2020
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Kutscher, L. (First author) ; Okonechnikov, K. (First author) ; Batora, N. (First author) ; Clark, J. ; Silva, P. B. G. ; Vouri, M. ; van Rijn, S. ; Sieber, L. ; Statz, B. ; Gearhart, M. D. ; Shiraishi, R. ; Mack, N. ; Orr, B. A. ; Korshunov, A. ; Gudenas, B. L. ; Smith, K. S. ; Mercier, A. L. ; Ayrault, O. ; Hoshino, M. ; Kool, M. ; von Hoff, K. ; Graf, N. ; Fleishhack, G. ; Bardwell, V. J. ; Pfister, S. M. ; Northcott, P. A. ; Kawauchi, D. (Last author) Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.
Genes & development 34 (17-18 ), 1161-1176 (2020 ) [10.1101/gad.337584.120 ] 2020
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Zheng, G. (First author) ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, A. ; Hemminki, K. (Last author) Incidence Differences Between First Primary Cancers and Second Primary Cancers Following Skin Squamous Cell Carcinoma as Etiological Clues.
Clinical epidemiology 12 , 857 - 864 (2020 ) [10.2147/CLEP.S256662 ] 2020
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Fittall, M. W. ; Lyskjaer, I. ; Ellery, P. ; Lombard, P. ; Ijaz, J. ; Strobl, A.-C. ; Oukrif, D. ; Tarabichi, M. ; Sill, M. ; Koelsche, C. ; Mechtersheimer, G. ; Demeulemeester, J. ; Tirabosco, R. ; Amary, F. ; Campbell, P. J. ; Pfister, S. ; Jones, D. T. W. ; Pillay, N. ; Van Loo, P. ; Behjati, S. ; Flanagan, A. M. Drivers underpinning the malignant transformation of giant cell tumour of bone.
The journal of pathology 252 (4 ), 433-440 (2020 ) [10.1002/path.5537 ] 2020
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Parisian, A. D. ; Koga, T. ; Miki, S. ; Johann, P. D. ; Kool, M. ; Crawford, J. R. ; Furnari, F. B. SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability.
Genes & development 34 (19-20 ), 1316-1329 (2020 ) [10.1101/gad.339978.120 ] 2020
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Zheng, G. (First author) ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, A. ; Hemminki, K. (Last author) Rate differences between first and second primary cancers may outline immune dysfunction as a key risk factor.
Cancer medicine 9 (21 ), 8258-8265 (2020 ) [10.1002/cam4.3454 ] 2020
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Li, Y. ; Roberts, N. D. ; Wala, J. A. ; Shapira, O. ; Schumacher, S. E. ; Kumar, K. ; Khurana, E. ; Waszak, S. ; Korbel, J. O. ; Haber, J. E. ; Imielinski, M. ; PCAWGStructuralVariationWorkingGroup ; Weischenfeldt, J. ; Beroukhim, R. ; Campbell, P. J. ; PCAWGConsortium Patterns of somatic structural variation in human cancer genomes.
Nature <London> 578 (7793 ), 112 - 121 (2020 ) [10.1038/s41586-019-1913-9 ] 2020
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Zheng, G. (First author) ; Catalano, C. (First author) ; Bandapalli, O. R. ; Paramasivam, N. ; Chattopadhyay, S. ; Schlesner, M. ; Sijmons, R. ; Hemminki, A. ; Dymerska, D. ; Lubinski, J. ; Hemminki, K. (Last author) ; Försti, A. (Last author) Cancer Predisposition Genes in Cancer-Free Families.
Cancers 12 (10 ), 2770 (2020 ) [10.3390/cancers12102770 ] 2020
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Niazi, Y. (First author) ; Thomsen, H. ; Smolkova, B. ; Vodickova, L. ; Vodenkova, S. ; Kroupa, M. ; Vymetalkova, V. ; Kazimirova, A. ; Barancokova, M. ; Volkovova, K. ; Staruchova, M. ; Hoffmann, P. ; Nöthen, M. M. ; Dusinska, M. ; Musak, L. ; Vodicka, P. ; Hemminki, K. ; Försti, A. (Last author) Impact of genetic polymorphisms in kinetochore and spindle assembly genes on chromosomal aberration frequency in healthy humans
Mutation research / Genetic toxicology and environmental mutagenesis 858-860 , 503253 (2020 ) [10.1016/j.mrgentox.2020.503253 ] 2020
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Selt, F. (First author) ; van Tilburg, C. M. ; Bison, B. ; Sievers, P. ; Harting, I. ; Ecker, J. ; Pajtler, K. W. ; Sahm, F. ; Bahr, A. ; Simon, M. ; Jones, D. T. W. ; Well, L. ; Mautner, V.-F. ; Capper, D. ; Hernáiz Driever, P. ; Gnekow, A. ; Pfister, S. M. ; Witt, O. ; Milde, T. (Last author) Response to trametinib treatment in progressive pediatric low-grade glioma patients.
Journal of neuro-oncology 149 (3 ), 499-510 (2020 ) [10.1007/s11060-020-03640-3 ] 2020
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Zhang, Z. ; Bartsch, J. W. ; Benzel, J. ; Lei, T. ; Nimsky, C. ; Voellger, B. Selective estrogen receptor modulators decrease invasiveness in pituitary adenoma cell lines AtT-20 and TtT/GF by affecting expression of MMP-14 and ADAM12.
FEBS Open Bio 10 (11 ), 2489-2498 (2020 ) [10.1002/2211-5463.12999 ] 2020
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Rusert, J. M. ; Juarez, E. F. ; Brabetz, S. ; Jensen, J. ; Garancher, A. ; Chau, L. Q. ; Tacheva-Grigorova, S. K. ; Wahab, S. ; Udaka, Y. T. ; Finlay, D. ; Seker-Cin, H. ; Reardon, B. ; Gröbner, S. ; Serrano, J. ; Ecker, J. ; Qi, L. ; Kogiso, M. ; Du, Y. ; Baxter, P. A. ; Henderson, J. J. ; Berens, M. E. ; Vuori, K. ; Milde, T. ; Cho, Y.-J. ; Li, X.-N. ; Olson, J. M. ; Reyes, I. ; Snuderl, M. ; Wong, T. C. ; Dimmock, D. P. ; Nahas, S. A. ; Malicki, D. ; Crawford, J. R. ; Levy, M. L. ; Van Allen, E. M. ; Pfister, S. ; Tamayo, P. ; Kool, M. ; Mesirov, J. P. ; Wechsler-Reya, R. J. Functional precision medicine identifies new therapeutic candidates for medulloblastoma.
Cancer research 80 (23 ), 5393-5407 (2020 ) [10.1158/0008-5472.CAN-20-1655 ] 2020
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Thomsen, H. (First author) ; Li, X. ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, K. (Last author) Familial associations between autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases.
PLOS ONE 15 (10 ), e0240794 - (2020 ) [10.1371/journal.pone.0240794 ] 2020
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Thomsen, H. ; Li, X. ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, K. (Last author) Familial associations for Addison disease and between Addison disease and other autoimmune diseases.
Endocrine Connections 9 (11 ), 1114-1120 (2020 ) [10.1530/EC-20-0328 ] 2020
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Malik, G. ; Agarwal, T. ; Raj, U. ; Sundararajan, V. S. ; Bandapalli, O. R. ; Suravajhala, P. Hypothetical Proteins as Predecessors of Long Non-coding RNAs
Current genomics 21 (7 ), 531 - 535 (2020 ) [10.2174/1389202921999200611155418 ] 2020
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Mata, D. A. ; Benhamida, J. K. ; Lin, A. L. ; Vanderbilt, C. M. ; Yang, S.-R. ; Villafania, L. B. ; Ferguson, D. C. ; Jonsson, P. ; Miller, A. M. ; Tabar, V. ; Brennan, C. W. ; Moss, N. S. ; Sill, M. ; Benayed, R. ; Mellinghoff, I. K. ; Rosenblum, M. K. ; Arcila, M. E. ; Ladanyi, M. ; Bale, T. A. Genetic and epigenetic landscape of IDH-wildtype glioblastomas with FGFR3-TACC3 fusions.
Acta Neuropathologica Communications 8 (1 ), 186 (2020 ) [10.1186/s40478-020-01058-6 ] 2020
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Dietzsch, S. ; Placzek, F. ; Pietschmann, K. ; von Bueren, A. O. ; Matuschek, C. ; Glück, A. ; Guckenberger, M. ; Budach, V. ; Welzel, J. ; Pöttgen, C. ; Schmidberger, H. ; Heinzelmann, F. ; Paulsen, F. ; Escudero, M. P. ; Schwarz, R. ; Hornung, D. ; Martini, C. ; Grosu, A. L. ; Stueben, G. ; Jablonska, K. ; Dunst, J. ; Stranzl-Lawatsch, H. ; Dieckmann, K. ; Timmermann, B. ; Pietsch, T. ; Warmuth-Metz, M. ; Bison, B. ; Kwiecien, R. ; Benesch, M. ; Gerber, N. U. ; Grotzer, M. A. ; Pfister, S. M. ; Clifford, S. C. ; von Hoff, K. ; Klagges, S. ; Rutkowski, S. ; Kortmann, R.-D. ; Mynarek, M. Evaluation of Prognostic Factors and Role of Participation in a Randomized Trial or a Prospective Registry in Pediatric and Adolescent Nonmetastatic Medulloblastoma ? A Report From the HIT 2000 Trial
Advances in radiation oncology 5 (6 ), 1158-1169 (2020 ) [10.1016/j.adro.2020.09.018 ] 2020
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Bailey, M. H. ; Meyerson, W. U. ; Dursi, L. J. ; et al Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Nature Communications 11 (1 ), 4748 (2020 ) [10.1038/s41467-020-18151-y ] 2020
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Thomsen, H. (First author) ; Li, X. ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, K. (Last author) Familial associations for rheumatoid autoimmune diseases.
Rheumatology advances in practice 4 (2 ), rkaa048 (2020 ) [10.1093/rap/rkaa048 ] 2020
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Chen, C. C. L. ; Deshmukh, S. ; Jessa, S. ; et al Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis
Cell 183 (6 ), 1617-1633.e22 (2020 ) [10.1016/j.cell.2020.11.012 ] 2020
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Thomsen, H. (First author) ; Li, X. ; Sundquist, K. ; Sundquist, J. ; Försti, A. ; Hemminki, K. (Last author) Familial risks between giant cell arteritis and Takayasu arteritis and other autoimmune diseases in the population of Sweden.
Scientific reports 10 (1 ), 20887 (2020 ) [10.1038/s41598-020-77857-7 ] 2020
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Colmenero-Repiso, A. ; Gómez-Muñoz, M. A. ; Rodríguez-Prieto, I. ; Amador-Álvarez, A. ; Henrich, K.-O. ; Pascual-Vaca, D. ; Okonechnikov, K. ; Rivas, E. ; Westermann, F. ; Pardal, R. ; Vega, F. M. Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation.
Cancers 12 (11 ), 3465 (2020 ) [10.3390/cancers12113465 ] 2020
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Hawkins, C. ; Pfister, S. ; Jones, D. T. W. ; Shah, N. N. ; Gilbertson, R. J. ; Sweet-Cordero, E. A. ; Dyer, M. A. ; Mossé, Y. P. ; Haber, M. ; DuBois, S. G. Advances and Challenges in Pediatric and Childhood Cancers.
Cancer cell 38 (4 ), 429 - 432 (2020 ) [10.1016/j.ccell.2020.09.013 ] 2020
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Kumar, V. ; Agrawal, R. ; Pandey, A. ; Kopf, S. ; Hoeffgen, M. ; Kaymak, S. ; Bandapalli, O. R. ; Gorbunova, V. ; Seluanov, A. ; Mall, M. A. ; Herzig, S. ; Nawroth, P. P. Compromised DNA repair is responsible for diabetes-associated fibrosis.
The EMBO journal 39 (11 ), e103477 (2020 ) [10.15252/embj.2019103477 ] 2020
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Joshi, P. K. (First author) ; Skromne, I. A theoretical model of neural maturation in the developing chick spinal cord.
PLOS ONE 15 (12 ), e0244219 - (2020 ) [10.1371/journal.pone.0244219 ] 2020
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Mayr, L. ; Guntner, A. S. ; Madlener, S. ; Schmook, M. T. ; Peyrl, A. ; Azizi, A. A. ; Dieckmann, K. ; Reisinger, D. ; Stepien, N. M. ; Schramm, K. ; Laemmerer, A. ; Jones, D. T. W. ; Ecker, J. ; Sahm, F. ; Milde, T. ; Pajtler, K. W. ; Blattner-Johnson, M. ; Strbac, M. ; Dorfer, C. ; Czech, T. ; Kirchhofer, D. ; Gabler, L. ; Berger, W. ; Haberler, C. ; Müllauer, L. ; Buchberger, W. ; Slavc, I. ; Lötsch-Gojo, D. ; Gojo, J. (Last author) Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated ROS1/NTRK-Fusion Positive Pediatric High-Grade Glioma
Journal of Personalized Medicine 10 (4 ), 290 (2020 ) [10.3390/jpm10040290 ] 2020
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Mayr, L. ; Gojo, J. ; Peyrl, A. ; Azizi, A. A. ; Stepien, N. M. ; Pletschko, T. ; Czech, T. ; Dorfer, C. ; Lambo, S. ; Dieckmann, K. ; Haberler, C. ; Kool, M. ; Slavc, I. Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes.
Frontiers in oncology 10 , 584681 (2020 ) [10.3389/fonc.2020.584681. ] 2020
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Zhang, Y. ; Chen, F. ; Fonseca, N. A. ; He, Y. ; Fujita, M. ; Nakagawa, H. ; Zhang, Z. ; Brazma, A. ; PCAWGTranscriptomeWorkingGroup ; PCAWGStructuralVariationWorkingGroup ; Creighton, C. J. ; PCAWGConsortium High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Nature Communications 11 (1 ), 736 (2020 ) [10.1038/s41467-019-13885-w ] 2020
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Alexandrov, L. B. ; Kim, J. ; Haradhvala, N. J. ; Huang, M. N. ; Tian Ng, A. W. ; Wu, Y. ; Boot, A. ; Covington, K. R. ; Gordenin, D. A. ; Bergstrom, E. N. ; Islam, S. M. A. ; Lopez-Bigas, N. ; Klimczak, L. J. ; McPherson, J. R. ; Morganella, S. ; Sabarinathan, R. ; Wheeler, D. A. ; Mustonen, V. ; PCAWGMutationalSignaturesWorkingGroup ; Getz, G. ; Rozen, S. G. ; Stratton, M. R. ; PCAWGConsortium The repertoire of mutational signatures in human cancer.
Nature <London> 578 (7793 ), 94 - 101 (2020 ) [10.1038/s41586-020-1943-3 ] 2020
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Paczkowska, M. ; Barenboim, J. ; Sintupisut, N. ; Fox, N. S. ; Zhu, H. ; Abd-Rabbo, D. ; Mee, M. W. ; Boutros, P. C. ; Drivers, P. ; FunctionalInterpretationWorkingGroup ; Reimand, J. ; PCAWGConsortium Integrative pathway enrichment analysis of multivariate omics data.
Nature Communications 11 (1 ), 735 (2020 ) [10.1038/s41467-019-13983-9 ] 2020
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Shuai, S. ; PCAWGDrivers ; FunctionalInterpretationWorkingGroup ; Gallinger, S. ; Stein, L. ; PCAWGConsortium Combined burden and functional impact tests for cancer driver discovery using DriverPower.
Nature Communications 11 (1 ), 734 (2020 ) [10.1038/s41467-019-13929-1 ] 2020
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Bhandari, V. ; Li, C. H. ; Bristow, R. G. ; Boutros, P. C. ; PCAWGConsortium Divergent mutational processes distinguish hypoxic and normoxic tumours.
Nature Communications 11 (1 ), 737 (2020 ) [10.1038/s41467-019-14052-x ] 2020
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Rubanova, Y. ; Shi, R. ; Harrigan, C. F. ; Li, R. ; Wintersinger, J. ; Sahin, N. ; Deshwar, A. ; PCAWGEvolution ; Group, H. W. ; Morris, Q. ; PCAWGConsortium Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.
Nature Communications 11 (1 ), 731 (2020 ) [10.1038/s41467-020-14352-7 ] 2020
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Reyna, M. A. ; Haan, D. ; Paczkowska, M. ; Verbeke, L. P. C. ; Vazquez, M. ; Kahraman, A. ; Pulido-Tamayo, S. ; Barenboim, J. ; Wadi, L. ; Dhingra, P. ; Shrestha, R. ; Getz, G. ; Lawrence, M. S. ; Pedersen, J. S. ; Rubin, M. A. ; Wheeler, D. A. ; Brunak, S. ; Izarzugaza, J. M. G. ; Khurana, E. ; Marchal, K. ; von Mering, C. ; Sahinalp, S. C. ; Valencia, A. ; Drivers, P. ; FunctionalInterpretationWorkingGroup ; Reimand, J. ; Stuart, J. M. ; Raphael, B. J. ; PCAWGConsortium Pathway and network analysis of more than 2500 whole cancer genomes.
Nature Communications 11 (1 ), 729 (2020 ) [10.1038/s41467-020-14367-0 ] 2020
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