Marcel Kool

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1997 …2023

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Search results

  • 2021

    Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

    Korshunov, A., Okonechnikov, K., Schmitt-Hoffner, F., Ryzhova, M., Sahm, F., Stichel, D., Schrimpf, D., Reuss, D. E., Sievers, P., Suwala, A. K., Kumirova, E., Zheludkova, O., Golanov, A., Jones, D. T. W., Pfister, S. M., Kool, M. & von Deimling, A., Dec 2021, In: Acta neuropathologica communications. 9, 1, 20.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Citations (Scopus)
  • Notch signaling between cerebellar granule cell progenitors

    Adachi, T., Miyashita, S., Yamashita, M., Shimoda, M., Okonechnikov, K., Chavez, L., Kool, M., Pfister, S. M., Inoue, T., Kawauchi, D. & Hoshino, M., 2021, In: eNeuro. 8, 3, ENEURO.0468-20.2021.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Citations (Scopus)
  • PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

    Alhalabi, K. T., Stichel, D., Sievers, P., Peterziel, H., Sommerkamp, A. C., Sturm, D., Wittmann, A., Sill, M., Jäger, N., Beck, P., Pajtler, K. W., Snuderl, M., Jour, G., Delorenzo, M., Martin, A. M., Levy, A., Dalvi, N., Hansford, J. R., Gottardo, N. G., Uro-Coste, E., & 42 othersMaurage, C. A., Godfraind, C., Vandenbos, F., Pietsch, T., Kramm, C., Filippidou, M., Kattamis, A., Jones, C., Øra, I., Mikkelsen, T. S., Zapotocky, M., Sumerauer, D., Scheie, D., McCabe, M., Wesseling, P., Tops, B. B. J., Kranendonk, M. E. G., Karajannis, M. A., Bouvier, N., Papaemmanuil, E., Dohmen, H., Acker, T., von Hoff, K., Schmid, S., Miele, E., Filipski, K., Kitanovski, L., Krskova, L., Gojo, J., Haberler, C., Alvaro, F., Ecker, J., Selt, F., Milde, T., Witt, O., Oehme, I., Kool, M., von Deimling, A., Korshunov, A., Pfister, S. M., Sahm, F. & Jones, D. T. W., Nov 2021, In: Acta Neuropathologica. 142, 5, p. 841-857 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    30 Citations (Scopus)
  • Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

    Suwala, A. K., Stichel, D., Schrimpf, D., Kloor, M., Wefers, A. K., Reinhardt, A., Maas, S. L. N., Kratz, C. P., Schweizer, L., Hasselblatt, M., Snuderl, M., Abedalthagafi, M. S. J., Abdullaev, Z., Monoranu, C. M., Bergmann, M., Pekrun, A., Freyschlag, C., Aronica, E., Kramm, C. M., Hinz, F., & 15 othersSievers, P., Korshunov, A., Kool, M., Pfister, S. M., Sturm, D., Jones, D. T. W., Wick, W., Unterberg, A., Hartmann, C., Dodgshun, A., Tabori, U., Wesseling, P., Sahm, F., von Deimling, A. & Reuss, D. E., Jan 2021, In: Acta Neuropathologica. 141, 1, p. 85-100 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Citations (Scopus)
  • Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

    Sievers, P., Henneken, S. C., Blume, C., Sill, M., Schrimpf, D., Stichel, D., Okonechnikov, K., Reuss, D. E., Benzel, J., Maaß, K. K., Kool, M., Sturm, D., Zheng, T., Ghasemi, D. R., Kohlhof-Meinecke, P., Cruz, O., Suñol, M., Lavarino, C., Ruf, V., Boldt, H. B., & 39 othersPagès, M., Pouget, C., Schweizer, L., Kranendonk, M. E. G., Akhtar, N., Bunkowski, S., Stadelmann, C., Schüller, U., Mueller, W. C., Dohmen, H., Acker, T., Harter, P. N., Mawrin, C., Beschorner, R., Brandner, S., Snuderl, M., Abdullaev, Z., Aldape, K., Gilbert, M. R., Armstrong, T. S., Ellison, D. W., Capper, D., Ichimura, K., Reifenberger, G., Grundy, R. G., Jabado, N., Krskova, L., Zapotocky, M., Vicha, A., Varlet, P., Wesseling, P., Rutkowski, S., Korshunov, A., Wick, W., Pfister, S. M., Jones, D. T. W., von Deimling, A., Pajtler, K. W. & Sahm, F., Nov 2021, In: Acta Neuropathologica. 142, 5, p. 827-839 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    30 Citations (Scopus)
  • Reduced chromatin binding of MYC is a key effect of HDAC inhibition in MYC amplified medulloblastoma

    Ecker, J., Thatikonda, V., Sigismondo, G., Selt, F., Valinciute, G., Oehme, I., Müller, C., Buhl, J. L., Ridinger, J., Usta, D., Qin, N., Van Tilburg, C. M., Herold-Mende, C., Remke, M., Sahm, F., Westermann, F., Kool, M., Wechsler-Reya, R. J., Chavez, L., Krijgsveld, J., & 4 othersJäger, N., Pfister, S. M., Witt, O. & Milde, T., 1 Feb 2021, In: Neuro-Oncology. 23, 2, p. 226-239 14 p.

    Research output: Contribution to journalArticlepeer-review

    20 Citations (Scopus)
  • Relevance of molecular groups in children with newly diagnosed atypical teratoid rhabdoid tumor: Results from prospective St. Jude multi-institutional trials

    Upadhyaya, S. A., Robinson, G. W., Onar-Thomas, A., Orr, B. A., Johann, P., Wu, G., Billups, C. A., Tatevossian, R. G., Dhanda, S. K., Srinivasan, A., Broniscer, A., Qaddoumi, I., Vinitsky, A., Armstrong, G. T., Bendel, A. E., Hassall, T., Partap, S., Fisher, P. G., Crawford, J. R., Chintagumpala, M., & 13 othersBouffet, E., Gururangan, S., Mostafavi, R., Sanders, R. P., Klimo, P., Patay, Z., Indelicato, D. J., Nichols, K. E., Boop, F. A., Merchant, T. E., Kool, M., Ellison, D. W. & Gajjar, A., May 2021, In: Clinical Cancer Research. 27, 10, p. 2879-2889 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    32 Citations (Scopus)
  • Sarcoma classification by DNA methylation profiling

    Koelsche, C., Schrimpf, D., Stichel, D., Sill, M., Sahm, F., Reuss, D. E., Blattner, M., Worst, B., Heilig, C. E., Beck, K., Horak, P., Kreutzfeldt, S., Paff, E., Stark, S., Johann, P., Selt, F., Ecker, J., Sturm, D., Pajtler, K. W., Reinhardt, A., & 91 othersWefers, A. K., Sievers, P., Ebrahimi, A., Suwala, A., Fernández-Klett, F., Casalini, B., Korshunov, A., Hovestadt, V., Kommoss, F. K. F., Kriegsmann, M., Schick, M., Bewerunge-Hudler, M., Milde, T., Witt, O., Kulozik, A. E., Kool, M., Romero-Pérez, L., Grünewald, T. G. P., Kirchner, T., Wick, W., Platten, M., Unterberg, A., Uhl, M., Abdollahi, A., Debus, J., Lehner, B., Thomas, C., Hasselblatt, M., Paulus, W., Hartmann, C., Staszewski, O., Prinz, M., Hench, J., Frank, S., Versleijen-Jonkers, Y. M. H., Weidema, M. E., Mentzel, T., Griewank, K., de Álava, E., Martín, J. D., Gastearena, M. A. I., Chang, K. T. E., Low, S. Y. Y., Cuevas-Bourdier, A., Mittelbronn, M., Mynarek, M., Rutkowski, S., Schüller, U., Mautner, V. F., Schittenhelm, J., Serrano, J., Snuderl, M., Büttner, R., Klingebiel, T., Buslei, R., Gessler, M., Wesseling, P., Dinjens, W. N. M., Brandner, S., Jaunmuktane, Z., Lyskjær, I., Schirmacher, P., Stenzinger, A., Brors, B., Glimm, H., Heining, C., Tirado, O. M., Sáinz-Jaspeado, M., Mora, J., Alonso, J., del Muro, X. G., Moran, S., Esteller, M., Benhamida, J. K., Ladanyi, M., Wardelmann, E., Antonescu, C., Flanagan, A., Dirksen, U., Hohenberger, P., Baumhoer, D., Hartmann, W., Vokuhl, C., Flucke, U., Petersen, I., Mechtersheimer, G., Capper, D., Jones, D. T. W., Fröhling, S., Pfister, S. M. & von Deimling, A., 1 Dec 2021, In: Nature Communications. 12, 1, 498.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    209 Citations (Scopus)
  • Single cell derived mRNA signals across human kidney tumors

    Young, M. D., Mitchell, T. J., Custers, L., Margaritis, T., Morales-Rodriguez, F., Kwakwa, K., Khabirova, E., Kildisiute, G., Oliver, T. R. W., de Krijger, R. R., van den Heuvel-Eibrink, M. M., Comitani, F., Piapi, A., Bugallo-Blanco, E., Thevanesan, C., Burke, C., Prigmore, E., Ambridge, K., Roberts, K., Braga, F. A. V., & 25 othersCoorens, T. H. H., Del Valle, I., Wilbrey-Clark, A., Mamanova, L., Stewart, G. D., Gnanapragasam, V. J., Rampling, D., Sebire, N., Coleman, N., Hook, L., Warren, A., Haniffa, M., Kool, M., Pfister, S. M., Achermann, J. C., He, X., Barker, R. A., Shlien, A., Bayraktar, O. A., Teichmann, S. A., Holstege, F. C., Meyer, K. B., Drost, J., Straathof, K. & Behjati, S., 23 Jun 2021, In: Nature communications. 12, 1, p. 3896 3896.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Citations (Scopus)
  • Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors withDNA-damaging chemotherapies in medulloblastoma

    Endersby, R., Whitehouse, J., Pribnow, A., Kuchibhotla, M., Hii, H., Carline, B., Gande, S., Stripay, J., Ancliffe, M., Howlett, M., Schoep, T., George, C., Andradas, C., Dyer, P., Schluck, M., Patterson, B., Silvia, K. T. G., Cooper, M. N., Robinson, G., Stewart, C., & 8 othersPfister, S. M., Kool, M., Milde, T., Gajjar, A., Johns, T., Wechsler-Reya, R. J., Roussel, M. F. & Gottardo, N. G., 20 Jan 2021, In: Science Translational Medicine. 13, 577, eaba7401.

    Research output: Contribution to journalArticlepeer-review

    22 Citations (Scopus)
  • Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours

    Custers, L., Khabirova, E., Coorens, T. H. H., Oliver, T. R. W., Calandrini, C., Young, M. D., Vieira Braga, F. A., Ellis, P., Mamanova, L., Segers, H., Maat, A., Kool, M., Hoving, E. W., van den Heuvel-Eibrink, M. M., Nicholson, J., Straathof, K., Hook, L., de Krijger, R. R., Trayers, C., Allinson, K., & 2 othersBehjati, S. & Drost, J., 3 Mar 2021, In: Nature communications. 12, 1, p. 1407 1407.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    36 Citations (Scopus)
  • Spatial Dissection of Invasive Front from Tumor Mass Enables Discovery of Novel microRNA Drivers of Glioblastoma Invasion

    Huang, Y., Qi, L., Kogiso, M., Du, Y., Braun, F. K., Zhang, H., Huang, L. F., Xiao, S., Teo, W. Y., Lindsay, H., Zhao, S., Baxter, P., Su, J. M. F., Adesina, A., Yang, J., Brabetz, S., Kool, M., Pfister, S. M., Chintagumpala, M., Perlaky, L., & 4 othersWang, Z., Zhou, Y., Man, T. K. & Li, X. N., 8 Dec 2021, In: Advanced Science. 8, 23, 2101923.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Citations (Scopus)
  • Subgroup and subtype-specific outcomes in adult medulloblastoma

    Coltin, H., Sundaresan, L., Smith, K. S., Skowron, P., Massimi, L., Eberhart, C. G., Schreck, K. C., Gupta, N., Weiss, W. A., Tirapelli, D., Carlotti, C., Li, K. K. W., Ryzhova, M., Golanov, A., Zheludkova, O., Absalyamova, O., Okonechnikov, K., Stichel, D., von Deimling, A., Giannini, C., & 29 othersRaskin, S., Van Meir, E. G., Chan, J. A., Fults, D., Chambless, L. B., Kim, S. K., Vasiljevic, A., Faure-Conter, C., Vibhakar, R., Jung, S., Leary, S., Mora, J., McLendon, R. E., Pollack, I. F., Hauser, P., Grajkowska, W. A., Rubin, J. B., van Veelen, M. L. C., French, P. J., Kros, J. M., Liau, L. M., Pfister, S. M., Kool, M., Kijima, N., Taylor, M. D., Packer, R. J., Northcott, P. A., Korshunov, A. & Ramaswamy, V., Nov 2021, In: Acta Neuropathologica. 142, 5, p. 859-871 13 p.

    Research output: Contribution to journalArticlepeer-review

    25 Citations (Scopus)
  • Targeting fibroblast growth factor receptors to combat aggressive ependymoma

    Lötsch, D., Kirchhofer, D., Englinger, B., Jiang, L., Okonechnikov, K., Senfter, D., Laemmerer, A., Gabler, L., Pirker, C., Donson, A. M., Bannauer, P., Korbel, P., Jaunecker, C. N., Hübner, J. M., Mayr, L., Madlener, S., Schmook, M. T., Ricken, G., Maaß, K., Grusch, M., & 17 othersHolzmann, K., Grasl-Kraupp, B., Spiegl-Kreinecker, S., Hsu, J., Dorfer, C., Rössler, K., Azizi, A. A., Foreman, N. K., Peyrl, A., Haberler, C., Czech, T., Slavc, I., Filbin, M. G., Pajtler, K. W., Kool, M., Berger, W. & Gojo, J., Aug 2021, In: Acta Neuropathologica. 142, 2, p. 339-360 22 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Citations (Scopus)
  • Targeting integrated epigenetic and metabolic pathways in lethal childhood PFA ependymomas

    Panwalkar, P., Tamrazi, B., Dang, D., Chung, C., Sweha, S., Natarajan, S. K., Pun, M., Bayliss, J., Ogrodzinski, M. P., Pratt, D., Mullan, B., Hawes, D., Yang, F., Lu, C., Sabari, B. R., Achreja, A., Heon, J., Animasahun, O., Cieslik, M., Dunham, C., & 25 othersYip, S., Hukin, J., Phillips, J. J., Bornhorst, M., Griesinger, A. M., Donson, A. M., Foreman, N. K., Garton, H. J. L., Heth, J., Muraszko, K., Nazarian, J., Koschmann, C., Jiang, L., Filbin, M. G., Nagrath, D., Kool, M., Korshunov, A., Pfister, S. M., Gilbertson, R. J., David Allis, C., Chinnaiyan, A. M., Lunt, S. Y., Blüml, S., Judkins, A. R. & Venneti, S., 6 Oct 2021, In: Science Translational Medicine. 13, 614, , eabc0497.

    Research output: Contribution to journalArticlepeer-review

    27 Citations (Scopus)
  • The genetic landscape of choroid plexus tumors in children and adults

    Thomas, C., Soschinski, P., Zwaig, M., Oikonomopoulos, S., Okonechnikov, K., Pajtler, K. W., Sill, M., Schweizer, L., Koch, A., Neumann, J., Schüller, U., Sahm, F., Rauschenbach, L., Keyvani, K., Proescholdt, M., Riemenschneider, M. J., Segewiß, J., Ruckert, C., Grauer, O., Monoranu, C. M., & 9 othersLamszus, K., Patrizi, A., Kordes, U., Siebert, R., Kool, M., Ragoussis, J., Paulus, W., Rivera, B. & Hasselblatt, M., 1 Apr 2021, In: Neuro-Oncology. 23, 4, p. 650-660 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Citations (Scopus)
  • Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study

    von Hoff, K., Haberler, C., Schmitt-Hoffner, F., Schepke, E., de Rojas, T., Jacobs, S., Zapotocky, M., Sumerauer, D., Perek-Polnik, M., Dufour, C., van Vuurden, D., Slavc, I., Gojo, J., Pickles, J. C., Gerber, N. U., Massimino, M., Gil-da-Costa, M. J., Garami, M., Kumirova, E., Sehested, A., & 41 othersScheie, D., Cruz, O., Moreno, L., Cho, J., Zeller, B., Bovenschen, N., Grotzer, M., Alderete, D., Snuderl, M., Zheludkova, O., Golanov, A., Okonechnikov, K., Mynarek, M., Juhnke, B. O., Rutkowski, S., Schüller, U., Pizer, B., von Zezschwitz, B., Kwiecien, R., Wechsung, M., Konietschke, F., Hwang, E. I., Sturm, D., Pfister, S. M., von Deimling, A., Rushing, E. J., Ryzhova, M., Hauser, P., Łastowska, M., Wesseling, P., Giangaspero, F., Hawkins, C., Figarella-Branger, D., Eberhart, C., Burger, P., Gessi, M., Korshunov, A., Jacques, T. S., Capper, D., Pietsch, T. & Kool, M., 1 Sept 2021, In: Neuro-Oncology. 23, 9, p. 1597-1611 15 p.

    Research output: Contribution to journalArticlepeer-review

    18 Citations (Scopus)
  • TMOD-02. GEBTO: GENETICALLY ENGINEERED BRAIN TUMOR ORGANOIDS AS A NOVEL PRECLINICAL MODEL

    Bunt, J., Roosen, M., Egelmeers, E., Ode, Z. & Kool, M., 1 Jun 2021, In: Neuro-Oncology. 23, Supplement_1, p. i35-i36

    Research output: Contribution to journalArticle

    Open Access
  • Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor

    Thomas, C., Oehl-Huber, K., Bens, S., Soschinski, P., Koch, A., Nemes, K., Oyen, F., Kordes, U., Kool, M., Frühwald, M. C., Hasselblatt, M. & Siebert, R., Aug 2021, In: Genes Chromosomes and Cancer. 60, 8, p. 586-590 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Citations (Scopus)
  • Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q

    Baroni, L. V., Sundaresan, L., Heled, A., Coltin, H., Pajtler, K. W., Lin, T., Merchant, T. E., McLendon, R., Faria, C., Buntine, M., White, C. L., Pfister, S. M., Gilbert, M. R., Armstrong, T. S., Bouffet, E., Kumar, S., Taylor, M. D., Aldape, K. D., Ellison, D. W., Gottardo, N. G., & 4 othersKool, M., Korshunov, A., Hansford, J. R. & Ramaswamy, V., 1 Aug 2021, In: Neuro-Oncology. 23, 8, p. 1360-1370 11 p.

    Research output: Contribution to journalArticlepeer-review

    43 Citations (Scopus)
  • 2020

    An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity

    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., & 11 othersde 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., 11 Mar 2020, In: Nature communications. 11, 1, p. 1310 1310.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    159 Citations (Scopus)
  • A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival

    Bremer, J., Kottke, R., Johann, P. D., von Hoff, K., Brazzola, P., Grotzer, M. A., Kool, M., Rushing, E. & Gerber, N. U., 1 Jul 2020, In: Pediatric Blood and Cancer. 67, 7, e28384.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Citations (Scopus)
  • Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (Nature Communications, (2020), 11, 1, (4748), 10.1038/s41467-020-18151-y)

    MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium, Dec 2020, In: Nature Communications. 11, 1, 6232.

    Research output: Contribution to journalComment/debate

    Open Access
  • Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

    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., & 9 othersKordes, U., Siebert, R., Frühwald, M. C., Johann, P. D., Sill, M., Kool, M., von Deimling, A., Paulus, W. & Hasselblatt, M., 1 Feb 2020, In: Acta Neuropathologica. 139, 2, p. 277-286 10 p.

    Research output: Contribution to journalArticlepeer-review

    39 Citations (Scopus)
  • Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) – a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

    Deng, M. Y., 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., & 19 othersJabado, 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., 1 Aug 2020, In: Neuropathology and Applied Neurobiology. 46, 5, p. 422-430 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    48 Citations (Scopus)
  • ETMR: a tumor entity in its infancy

    Lambo, S., von Hoff, K., Korshunov, A., Pfister, S. M. & Kool, M., 1 Sept 2020, In: Acta Neuropathologica. 140, 3, p. 249-266 18 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    40 Citations (Scopus)
  • ETMR-13. NFI GENES IN ETMR TUMORIGENESIS AND NEURODEVELOPMENT

    Bunt, J., Lambo, S., Lim, J., Mauermann, M., Pfister, S., Richards, L. & Kool, M., 4 Dec 2020, In: Neuro-Oncology. 22, Supplement_3, p. iii325-iii325

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation

    Kutscher, L. M., Okonechnikov, K., Batora, N. V., 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., & 7 othersvon Hoff, K., Graf, N., Fleischhack, G., Bardwell, V. J., Pfister, S. M., Northcott, P. A. & Kawauchi, D., 1 Sept 2020, In: Genes and Development. 34, 17-18, p. 1161-1176 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Citations (Scopus)
  • Functional precision medicine identifies new therapeutic candidates for medulloblastoma

    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., Grobner, S., Serrano, J., Ecker, J., Qi, L., Kogiso, M., Du, Y., Baxter, P. A., Henderson, J. J., & 20 othersBerens, 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. M., Tamayo, P., Kool, M., Mesirov, J. P. & Wechsler-Reya, R. J., 1 Dec 2020, In: Cancer Research. 80, 23, p. 5393-5407 15 p.

    Research output: Contribution to journalArticlepeer-review

    30 Citations (Scopus)
  • Germline Elongator mutations in Sonic Hedgehog medulloblastoma

    Waszak, S. M., Robinson, G. W., Gudenas, B. L., Smith, K. S., Forget, A., Kojic, M., Garcia-Lopez, J., Hadley, J., Hamilton, K. V., Indersie, E., Buchhalter, I., Kerssemakers, J., Jäger, N., Sharma, T., Rausch, T., Kool, M., Sturm, D., Jones, D. T. W., Vasilyeva, A., Tatevossian, R. G., & 43 othersNeale, G., Lombard, B., Loew, D., Nakitandwe, J., Rusch, M., Bowers, D. C., Bendel, A., Partap, S., Chintagumpala, M., Crawford, J., Gottardo, N. G., Smith, A., Dufour, C., Rutkowski, S., Eggen, T., Wesenberg, F., Kjaerheim, K., Feychting, M., Lannering, B., Schüz, J., Johansen, C., Andersen, T. V., Röösli, M., Kuehni, C. E., Grotzer, M., Remke, M., Puget, S., Pajtler, K. W., Milde, T., Witt, O., Ryzhova, M., Korshunov, A., Orr, B. A., Ellison, D. W., Brugieres, L., Lichter, P., Nichols, K. E., Gajjar, A., Wainwright, B. J., Ayrault, O., Korbel, J. O., Northcott, P. A. & Pfister, S. M., 16 Apr 2020, In: Nature. 580, 7803, p. 396-401 6 p.

    Research output: Contribution to journalArticlepeer-review

    77 Citations (Scopus)
  • Inhibition of RHO-associated kinase suppresses medulloblastoma growth

    Dyberg, C., Andonova, T., Olsen, T. K., Brodin, B., Kool, M., Kogner, P., Johnsen, J. I. & Wickström, M., Jan 2020, In: Cancers. 12, 1, 73.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Citations (Scopus)
  • Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors

    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., & 10 othersDelattre, O., Surdez, D., Bourdeaut, F., Puget, S., Zaidi, S., Mitra, S. S., Cheshier, S., Sorensen, P. H., Monje, M. & Mackall, C. L., 1 May 2020, In: Nature Medicine. 26, 5, p. 712-719 8 p.

    Research output: Contribution to journalArticlepeer-review

    162 Citations (Scopus)
  • Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells

    Susanto, E., Navarro, A. M., 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., & 4 othersDarabi, A., Swartling, F. J., Falk, A. & Wilhelm, M., Aug 2020, In: Proceedings of the National Academy of Sciences of the United States of America. 117, 33, p. 20127-20138 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    17 Citations (Scopus)
  • Molecular characterization of histopathological ependymoma variants

    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., 1 Feb 2020, In: Acta Neuropathologica. 139, 2, p. 305-318 14 p.

    Research output: Contribution to journalArticlepeer-review

    44 Citations (Scopus)
  • Molecular subgrouping of atypical teratoid/rhabdoid tumors - A reinvestigation and current consensus

    Ho, B., Johann, P. D., Johann, P. D., Johann, P. D., Grabovska, Y., De Dieu Andrianteranagna, M. J., De Dieu Andrianteranagna, M. J., Yao, F., Frühwald, M., Hasselblatt, M., Bourdeaut, F., Bourdeaut, F., Williamson, D., Huang, A., Kool, M. & Kool, M., 15 May 2020, In: Neuro-Oncology. 22, 5, p. 613-624 12 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    122 Citations (Scopus)
  • Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations

    Pfaff, E., 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., & 9 othersMynarek, M., Rutkowski, S., Sahm, F., von Deimling, A., Lichter, P., Kool, M., Zapatka, M., Pfister, S. M. & Jones, D. T. W., 1 Feb 2020, In: Acta Neuropathologica. 139, 2, p. 243-257 15 p.

    Research output: Contribution to journalArticlepeer-review

    44 Citations (Scopus)
  • Nonmetastatic medulloblastoma of early childhood: Results from the prospective clinical trial hit-2000 and an extended validation cohort

    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., & 29 othersRiemenschneider, 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., 24 Apr 2020, In: Journal of Clinical Oncology. 38, 18, p. 2028-2040 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    58 Citations (Scopus)
  • Pan-cancer analysis of whole genomes

    The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, 6 Feb 2020, In: Nature. 578, 7793, p. 82-93 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1459 Citations (Scopus)
  • Pilocytic astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response

    Aichmüller, C. F., Iskar, M., Jones, D. T. W., Korshunov, A., Radlwimmer, B., Kool, M., Ernst, A., Pfister, S. M., Lichter, P. & Zapatka, M., 1 Sept 2020, In: Neuro-Oncology. 22, 9, p. 1327-1338 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Citations (Scopus)
  • Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes

    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., 17 Dec 2020, In: Frontiers in Oncology. 10, 584681.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Citations (Scopus)
  • Predisposition of wingless subgroup medulloblastoma for primary tumor hemorrhage

    Reisinger, D., Gojo, J., Kasprian, G., Haberler, C., Peyrl, A., Azizi, A. A., Mayr, L., Chocholous, M., Kool, M., Czech, T. & Slavc, I., 1 Apr 2020, In: Neurosurgery. 86, 4, p. 478-484 7 p.

    Research output: Contribution to journalArticlepeer-review

    1 Citation (Scopus)
  • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

    MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium, 1 Dec 2020, In: Nature Communications. 11, 1, 4748.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Citations (Scopus)
  • Sex differences in oncogenic mutational processes

    PCAWG Tumour Subtypes and Clinical Translation & PCAWG Consortium, 1 Dec 2020, In: Nature Communications. 11, 1, 4330.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    48 Citations (Scopus)
  • Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma

    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., & 21 othersGeyeregger, 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. & Filbin, M. G., 13 Jul 2020, In: Cancer Cell. 38, 1, p. 44-59.e9

    Research output: Contribution to journalArticlepeer-review

    Open Access
    72 Citations (Scopus)
  • SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability

    Parisian, A. D., Koga, T., Miki, S., Johann, P. D., Kool, M., Crawford, J. R. & Furnari, F. B., 1 Oct 2020, In: Genes and Development. 34, 19-20, p. 1316-1329 14 p.

    Research output: Contribution to journalArticlepeer-review

    19 Citations (Scopus)
  • Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

    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., & 3 othersModena, P., Fouyssac, F. & C. Frühwald, M., 1 Jan 2020, In: Pediatric Blood and Cancer. 67, 1, e28022.

    Research output: Contribution to journalArticlepeer-review

    10 Citations (Scopus)
  • The AHR pathway represses TGFβ-SMAD3 signalling and has a potent tumour suppressive role in SHH medulloblastoma

    Sarić, N., Selby, M., Ramaswamy, V., Kool, M., Stockinger, B., Hogstrand, C., Williamson, D., Marino, S., Taylor, M. D., Clifford, S. C. & Basson, M. A., 1 Dec 2020, In: Scientific Reports. 10, 1, 148.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Citations (Scopus)
  • Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker

    Korshunov, A., 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., & 7 othersKumirova, E., Zheludkova, O., Golanov, A., Jones, D. T. W., Pfister, S. M., Kool, M. & von Deimling, A., 1 Mar 2020, In: Acta Neuropathologica. 139, 3, p. 583-596 14 p.

    Research output: Contribution to journalArticlepeer-review

    10 Citations (Scopus)
  • Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR)

    Hasselblatt, M., Thomas, C., Nemes, K., Monoranu, C. M., Riemenschneider, M. J., Koch, A., Sumerauer, D., Hauser, P., Paulus, W., Johann, P. D., Kool, M. & Frühwald, M. C., 1 Feb 2020, In: Neuropathology and Applied Neurobiology. 46, 2, p. 186-189 4 p.

    Research output: Contribution to journalLetterpeer-review

    8 Citations (Scopus)
  • 2019

    Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

    Erkek, S., Johann, P. D., Finetti, M. A., Drosos, Y., Chou, H. C., Zapatka, M., Sturm, D., Jones, D. T. W., Korshunov, A., Rhyzova, M., Wolf, S., Mallm, J. P., Beck, K., Witt, O., Kulozik, A. E., Frühwald, M. C., Northcott, P. A., Korbel, J. O., Lichter, P., Eils, R., & 7 othersGajjar, A., Roberts, C. W. M., Williamson, D., Hasselblatt, M., Chavez, L., Pfister, S. M. & Kool, M., 14 Jan 2019, In: Cancer Cell. 35, 1, p. 95-110.e8

    Research output: Contribution to journalArticlepeer-review

    58 Citations (Scopus)