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Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures.
Rausch T, Snajder R, Leger A, Simovic M, Giurgiu M, Villacorta L, Henssen AG, Fröhling S, Stegle O, Birney E, Bonder MJ, Ernst A, Korbel JO. Rausch T, et al. Among authors: ernst a. Cell Genom. 2023 Mar 22;3(4):100281. doi: 10.1016/j.xgen.2023.100281. eCollection 2023 Apr 12. Cell Genom. 2023. PMID: 37082141 Free PMC article.
Chromothripsis, DNA repair and checkpoints defects.
Simovic M, Ernst A. Simovic M, et al. Among authors: ernst a. Semin Cell Dev Biol. 2022 Mar;123:110-114. doi: 10.1016/j.semcdb.2021.02.001. Epub 2021 Feb 13. Semin Cell Dev Biol. 2022. PMID: 33589336 Free article. Review.
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM. Waszak SM, et al. Among authors: ernst a. Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9. Lancet Oncol. 2018. PMID: 29753700 Free PMC article.
The landscape of chromothripsis across adult cancer types.
Voronina N, Wong JKL, Hübschmann D, Hlevnjak M, Uhrig S, Heilig CE, Horak P, Kreutzfeldt S, Mock A, Stenzinger A, Hutter B, Fröhlich M, Brors B, Jahn A, Klink B, Gieldon L, Sieverling L, Feuerbach L, Chudasama P, Beck K, Kroiss M, Heining C, Möhrmann L, Fischer A, Schröck E, Glimm H, Zapatka M, Lichter P, Fröhling S, Ernst A. Voronina N, et al. Among authors: ernst a. Nat Commun. 2020 May 8;11(1):2320. doi: 10.1038/s41467-020-16134-7. Nat Commun. 2020. PMID: 32385320 Free PMC article.
A synergistic interaction between HDAC- and PARP inhibitors in childhood tumors with chromothripsis.
Khalid U, Simovic M, Hammann LA, Iskar M, Wong JKL, Kumar R, Jugold M, Sill M, Bolkestein M, Kolb T, Hergt M, Devens F, Ecker J, Kool M, Milde T, Westermann F, Benner A, Lewis J, Dietrich S, Pfister SM, Lichter P, Zapatka M, Ernst A. Khalid U, et al. Among authors: ernst a. Int J Cancer. 2022 Aug 15;151(4):590-606. doi: 10.1002/ijc.34027. Epub 2022 Apr 28. Int J Cancer. 2022. PMID: 35411591 Free article.
Carbon ion radiotherapy eradicates medulloblastomas with chromothripsis in an orthotopic Li-Fraumeni patient-derived mouse model.
Simovic M, Bolkestein M, Moustafa M, Wong JKL, Körber V, Benedetto S, Khalid U, Schreiber HS, Jugold M, Korshunov A, Hübschmann D, Mack N, Brons S, Wei PC, Breckwoldt MO, Heiland S, Bendszus M, Debus J, Höfer T, Zapatka M, Kool M, Pfister SM, Abdollahi A, Ernst A. Simovic M, et al. Among authors: ernst a. Neuro Oncol. 2021 Dec 1;23(12):2028-2041. doi: 10.1093/neuonc/noab127. Neuro Oncol. 2021. PMID: 34049392 Free PMC article.
Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.
Ratnaparkhe M, Wong JKL, Wei PC, Hlevnjak M, Kolb T, Simovic M, Haag D, Paul Y, Devens F, Northcott P, Jones DTW, Kool M, Jauch A, Pastorczak A, Mlynarski W, Korshunov A, Kumar R, Downing SM, Pfister SM, Zapatka M, McKinnon PJ, Alt FW, Lichter P, Ernst A. Ratnaparkhe M, et al. Among authors: ernst a. Nat Commun. 2018 Nov 12;9(1):4760. doi: 10.1038/s41467-018-06925-4. Nat Commun. 2018. PMID: 30420702 Free PMC article.
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Chudasama P, Mughal SS, Sanders MA, Hübschmann D, Chung I, Deeg KI, Wong SH, Rabe S, Hlevnjak M, Zapatka M, Ernst A, Kleinheinz K, Schlesner M, Sieverling L, Klink B, Schröck E, Hoogenboezem RM, Kasper B, Heilig CE, Egerer G, Wolf S, von Kalle C, Eils R, Stenzinger A, Weichert W, Glimm H, Gröschel S, Kopp HG, Omlor G, Lehner B, Bauer S, Schimmack S, Ulrich A, Mechtersheimer G, Rippe K, Brors B, Hutter B, Renner M, Hohenberger P, Scholl C, Fröhling S. Chudasama P, et al. Among authors: ernst a. Nat Commun. 2018 Jan 10;9(1):144. doi: 10.1038/s41467-017-02602-0. Nat Commun. 2018. PMID: 29321523 Free PMC article.
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, Milde T, Kramm C, Nathrath M, Chrzanowska K, Tausch E, Takagi M, Taga T, Constantini S, Loeffen J, Meijerink J, Zielen S, Gohring G, Schlegelberger B, Maass E, Siebert R, Kunz J, Kulozik AE, Worst B, Jones DT, Pfister SM, Zapatka M, Lichter P, Ernst A. Ratnaparkhe M, et al. Among authors: ernst a. Leukemia. 2017 Oct;31(10):2048-2056. doi: 10.1038/leu.2017.55. Epub 2017 Feb 15. Leukemia. 2017. PMID: 28196983
1,243 results