ICGC PedBrainTumor


  • Reisinger E, Genthner L, Kerssemakers J, Kensche P, Borufka S, Jugold A, Kling A, Prinz M, Scholz I, Zipprich G, Eils R, Lawerenz C, Eils J. OTP: An automatized system for managing and processing NGS data. J Biotechnol. 2017 Nov 10;261:53-62. | doi: 10.1016/j.jbiotec.2017.08.006


  • Northcott PA*, Buchhalter I*, Morrissy, AS*, …, Korbel JO, Brors B, Schlesner M, Eils R, Marra MA, Pfister SM, Taylor MD, Lichter P. The whole-genome landscape of medulloblastoma subtypes. Nature. 2017 Jul 19;547(7663):311-317. | doi: 10.1038/nature22973


  • Morrissy AS, Cavalli FMG, Remke M, ..., Jones SJM, Das S, Malkin D, Jabado N, Marra MA, Taylor MD. Spatial heterogeneity in medulloblastoma. Nat Genet. 2017 May;49(5):780-788. | doi: 10.1038/ng.3838


  • Korshunov A, Schrimpf D, Ryzhova M, Sturm D, ..., Capper D, von Deimling A, Pfister SM, Jones DT. H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers. Acta Neuropathol. 2017 Apr 11. | doi: 10.1007/s00401-017-1710-1



  • Bender S, Gronych J, Warnatz HJ, …, Eils R, Yaspo ML, Pfister SM, Lichter P, Jones DT for the International Cancer Genome Consortium PedBrain Tumor Project. Recurrent MET fusion genes represent a drug target in pediatric glioblastoma. Nature Medicine. 2016 Nov;22(11):1314-1320. | doi: 10.1038/nm.4204


  • Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DT. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Hum Genet. 2016 May;135(5):469-75. | doi: 10.1007/s00439-016-1646-x


  • Oh S, Flynn RA, Floor SN, Purzner J, Martin L, Do BT, Schubert S, Vaka D, Morrissy S, Li Y, Kool M, Hovestadt V, Jones DT, Northcott PA, Risch T, Warnatz HJ, Yaspo ML, Adams CM, Leib RD, Breese M, Marra MA, Malkin D, Lichter P, Doudna JA, Pfister SM, Taylor MD, Chang HY, Cho YJ. Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress. Oncotarget. 2016 May 10;7(19):28169-82. | doi: 10.18632/oncotarget.8612


  • Sturm D*, Orr BA*, Toprak UH*, Hovestadt V*, Jones DTW, …, Karajannis MA, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell. 2016 Feb 25;164(5):1060-1072. | doi: 10.1016/j.cell.2016.01.015


  • Morrissy AS, Garzia L, Shih DJ, ..., Kool M, Northcott PA, Pfister SM, Largaespada DA, Mungall AJ, Moore RA, Jabado N, Bader GD, Jones SJ, Malkin D, Marra MA, Taylor MD. Divergent clonal selection dominates medulloblastoma at recurrence. Nature. 2016 Jan 21;529(7586):351-7. | doi: 10.1038/nature16478



  • Fontebasso AM, Shirinian M, Khuong-Quang DA, ..., Hasselblatt M, Jones DT, Jabado N. Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age. Oncotarget. 2015 Oct 13;6(31):31844-56. | doi: 10.18632/oncotarget.5571


  • Mardin BR, Drainas AP, Waszak SM, ..., Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO. A cell-based model system links chromothripsis with hyperploidy. Mol Syst Biol. 2015 Sep 28;11(9):828. | doi: 10.15252/msb.20156505


  • Alioto TS*, Buchhalter I*,…, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R*, Jones DTW*, Gut IG*. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nature Communications. 2015, 6:10001 | doi: 10.1038/ncomms10001


  • Pajtler KW, Witt H, Sill M, Jones DT, Hovestadt V, …, Yaspo ML, von Deimling A, Lichter P, Taylor MD, Gilbertson R, Ellison DW, Aldape K, Korshunov A, Kool M, Pfister SM. Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups. Cancer Cell. 2015 May 11;27(5):728-43. | doi: 10.1016/j.ccell.2015.04.002


  • Korshunov A, Ryzhova M, Hovestadt V, Bender S, Sturm D, Capper D, Meyer J, Schrimpf D, Kool M, Northcott PA, Zheludkova O, Milde T, Witt O, Kulozik AE, Reifenberger G, Jabado N, Perry A, Lichter P, von Deimling A, Pfister SM, Jones DT. Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers. Acta Neuropathol. 2015 May;129(5):669-78. | doi: 10.1007/s00401-015-1405-4



  • Hutter S, Piro RM, Reuss DE, Hovestadt V, ..., Pfister SM, Jones DT, Mautner VF. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol. 2014 Sep;128(3):449-52. | doi: 10.1007/s00401-014-1311-1


  • Northcott PA*, Lee C*, Zichner T*, Stütz AM, Erkek S, ..., Taylor MD, Lichter P*, Korbel JO*, Wechsler-Reya RJ*, Pfister SM*. Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma. Nature. 2014 Jul 24;511(7510):428-34. | doi: 10.1038/nature13379


  • Hovestadt V,* Jones DTW*, Picelli S, Wang W, Kool M, ..., Korshunov A, Zapatka M, Radlwimmer B*, Pfister SM*, Lichter P*. Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing. Nature. 2014 Jun 26;510(7506):537-41. | doi: 10.1038/nature13268


  • Kool M, Jones DTW, Jäger N, Northcott PA, Pugh TJ, ..., Korshunov A, Eils R, Wechsler-Reya RJ*, Lichter P,* Pfister SM*. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened-inhibition. Cancer Cell. 2014 Mar 17;25(3):393-405. | doi: 10.1016/j.ccr.2014.02.004


  • Sturm D, Bender S, Jones DTW, Lichter P, Grill J, ..., Iavarone A, Aldape K, Brennan CW, Jabado N, Pfister SM. Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge. Nat Rev Cancer. 2014 Feb;14(2):92-107. | doi: 10.1038/nrc3655


  • Mack SC*, Witt H*, Piro RM, …, Eils R, Lichter P, Dirks PB, Pfister SM, Korshunov A, Taylor MD. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 2014 Feb 27;506(7489):445-50. | doi: 10.1038/nature13108



  • Bender S, Tang Y, Lindroth AM, Hovestadt V, Jones DT, ..., Lichter P, Monje M, Plass C, Cho YJ, Pfister SM. Reduced H3K27me3 and DNA Hypomethylation Are Major Drivers of Gene Expression in K27M Mutant Pediatric High-Grade Gliomas. Cancer Cell. 2013 Nov 11;24(5):660-72. | doi: 10.1016/j.ccr.2013.10.006


  • Jäger N, Schlesner M, Jones DT, Raffel S, Mallm JP, ..., Rippe K, Lehmann I, Lichter P, Pfister SM, Eils R. Hypermutation of the inactive x chromosome is a frequent event in cancer. Cell. 2013 Oct 24;155(3):567-81. | doi: 10.1016/j.cell.2013.09.042


  • Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, …, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR. Signatures of mutational processes in human cancer. Nature. 2013 Aug 22;500(7463):415-21. | doi: 10.1038/nature12477


  • Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, …, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM; International Cancer Genome Consortium PedBrain Tumor Project. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nature Genetics. 2013 Aug;45(8):927-32. | doi: 10.1038/ng.2682


  • Lambert SR, Witt H, Hovestadt V, Zucknick M, Kool M, ..., Fontebasso AM, Lichter P, Pfister SM, Collins VP, Jones DT. Differential expression and methylation of brain developmental genes define location-specific subsets of pilocytic astrocytoma. Acta Neuropathol. 2013 Aug;126(2):291-301. | doi: 10.1007/s00401-013-1124-7


  • Hovestadt V, Remke M, Kool M, Pietsch T, Northcott PA, ..., Korshunov A, Lichter P, Taylor MD, Pfister SM, Jones DT. Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays. Acta Neuropathol. 2013 Jun;125(6):913-6. | doi: 10.1007/s00401-013-1126-5


  • Rieber N, Zapatka M, Lasitschka B, Jones D, Northcott P, ..., Taylor M, Lichter P, Pfister S, Wolf S, Brors B, Eils R. Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies. PLoS One. 2013 Jun 11;8(6):e66621. | doi: 10.1371/journal.pone.0066621


  • Jones DT, Northcott PA, Kool M, Pfister SM. The role of chromatin remodeling in medulloblastoma. Brain Pathol. 2013 Mar;23(2):193-9. | doi: 10.1111/bpa.12019. Review


  • Fontebasso AM, Liu XY, Sturm D, Jabado N. Chromatin remodeling defects in pediatric and young adult glioblastoma: a tale of a variant histone 3 tail. Brain Pathol. 2013 Mar;23(2):210-6. | doi: 10.1111/bpa.12023. Review



  • Northcott PA, Jones DT, Kool M, Robinson GW, Gilbertson RJ, Cho YJ, Pomeroy SL, Korshunov A, Lichter P, Taylor MD, Pfister SM. Medulloblastomics: the end of the beginning. Nat Rev Cancer . 2012 Dec;12(12):818-34. | doi: 10.1038/nrc3410. Review


  • Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, ..., Korshunov A, Lichter P, Plass C, Jabado N, Pfister SM. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell. 2012 Oct 16;22(4):425-37. | doi: 10.1016/j.ccr.2012.08.024 


  • Pugh TJ, Weeraratne SD, Archer TC, Pomeranz Krummel DA, Auclair D, ..., Pfister SM, Roberts TM, Meyerson M, Pomeroy SL, Cho YJ. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature. 2012 Aug 2;488(7409):106-10.| doi: 10.1038/nature11329

  • Jones DT, Jäger N, Kool M, Zichner T, Hutter B, ..., Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P. Dissecting the genomic complexity underlying medulloblastoma. Nature. 2012 Aug 2;488(7409):100-5. | doi: 10.1038/nature11284

  • Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, ..., Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD.Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 2012 Aug 2;488(7409):49-56. | doi: 10.1038/nature11327

  • Kool M, Korshunov A, Remke M, Jones DT, Schlanstein M, ..., Gilbertson RJ, Pomeroy SL, Taylor MD, Lichter P, Pfister SM. Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas. Acta Neuropathol . 2012, 123(4):473-84. | doi:10.1007/s00401-012-0958-8

  • Northcott PA, Korshunov A, Pfister SM, Taylor MD.The clinical implications of medulloblastoma subgroups. Nat Rev Neurol. 2012, 8, 340-351. | doi:10.1038/nrneurol.2012.78

  • Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, ..., Tabori U, Plass C, Majewski J, Pfister SM, Jabado N. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.Nature. 2012, 482(7384):226-31. | doi:10.1038/nature10833

  • Rausch T, Jones DT, Zapatka M, Stütz AM, Zichner T, ..., Korshunov A, Taylor MD, Lichter P, Pfister SM, Korbel JO. Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations. Cell. 2012, 148, 51-79. | doi:10.1060/j.cell.2011.12.013



  • The International Cancer Genome Consortium. International network of cancer genome projects. Nature. 2010, 464, 993-998. | doi: 10.1038/nature09167



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