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Publications 2020

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Nature <London> 578(7793), 102 - 111 () [10.1038/s41586-020-1965-x]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Sex differences in oncogenic mutational processes
Nature Communications 11(1), 4330 () [10.1038/s41467-020-17359-2]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Inferring structural variant cancer cell fraction.
Nature Communications 11(1), 730 () [10.1038/s41467-020-14351-8]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.
Nature Communications 11(1), 728 () [10.1038/s41467-019-13825-8]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Pathway and network analysis of more than 2500 whole cancer genomes.
Nature Communications 11(1), 729 () [10.1038/s41467-020-14367-0]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.
Nature Communications 11(1), 731 () [10.1038/s41467-020-14352-7]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Divergent mutational processes distinguish hypoxic and normoxic tumours.
Nature Communications 11(1), 737 () [10.1038/s41467-019-14052-x]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Combined burden and functional impact tests for cancer driver discovery using DriverPower.
Nature Communications 11(1), 734 () [10.1038/s41467-019-13929-1]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Integrative pathway enrichment analysis of multivariate omics data.
Nature Communications 11(1), 735 () [10.1038/s41467-019-13983-9]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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The repertoire of mutational signatures in human cancer.
Nature <London> 578(7793), 94 - 101 () [10.1038/s41586-020-1943-3]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Nature Communications 11(1), 736 () [10.1038/s41467-019-13885-w]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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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 () [10.3390/jpm10040290]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis
Cell 183(6), 1617-1633.e22 () [10.1016/j.cell.2020.11.012]  GO BibTeX | EndNote: XML, Text | RIS

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Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Nature genetics nn, nn () [10.1038/s41588-020-0634-1]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Nature Communications 11(1), 4748 () [10.1038/s41467-020-18151-y]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Response to trametinib treatment in progressive pediatric low-grade glioma patients.
Journal of neuro-oncology 149(3), 499-510 () [10.1007/s11060-020-03640-3]  GO BibTeX | EndNote: XML, Text | RIS

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Patterns of somatic structural variation in human cancer genomes.
Nature <London> 578(7793), 112 - 121 () [10.1038/s41586-019-1913-9]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Acta neuropathologica 140(5), 765-776 () [10.1007/s00401-020-02209-8]  GO BibTeX | EndNote: XML, Text | RIS

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Drivers underpinning the malignant transformation of giant cell tumour of bone.
The journal of pathology 252(4), 433-440 () [10.1002/path.5537]  GO BibTeX | EndNote: XML, Text | RIS

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Infratentorial IDH-mutant astrocytoma is a distinct subtype.
Acta neuropathologica 140(4), 569-581 () [10.1007/s00401-020-02194-y]  GO BibTeX | EndNote: XML, Text | RIS

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An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data.
Acta neuropathologica 140(2), 237-239 () [10.1007/s00401-020-02167-1]  GO BibTeX | EndNote: XML, Text | RIS

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CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas.
Acta neuropathologica 140(3), 409-413 () [10.1007/s00401-020-02188-w]  GO BibTeX | EndNote: XML, Text | RIS

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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 () [10.1158/1535-7163.MCT-19-1021]  GO BibTeX | EndNote: XML, Text | RIS

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Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases.
Acta Neuropathologica Communications 8(1), 95 () [10.1186/s40478-020-00978-7]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png
Pan-cancer analysis of whole genomes.
Nature <London> 578(7793), 82 - 93 () [10.1038/s41586-020-1969-6]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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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 () [10.1186/s12885-020-07008-8]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Endometrial stromal sarcomas with BCOR-rearrangement harbor MDM2 amplifications.
The journal of pathology: clinical research 6(3), 178-184 () [10.1002/cjp2.165]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Germline Elongator mutations in Sonic Hedgehog medulloblastoma
Nature <London> 580(7803), 396 - 401 () [10.1038/s41586-020-2164-5]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes.
Cancer discovery 10(7), 942-963 () [10.1158/2159-8290.CD-19-1030]  GO BibTeX | EndNote: XML, Text | RIS

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Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers.
European journal of cancer 130, 168 - 181 () [10.1016/j.ejca.2020.01.027]  GO  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

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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 () [10.1007/s00401-020-02142-w]  GO BibTeX | EndNote: XML, Text | RIS

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Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response.
Neuro-Oncology 22(9), 1327-1338 () [10.1093/neuonc/noaa035]  GO BibTeX | EndNote: XML, Text | RIS

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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.
Nature genetics 52(3), 331-341 () [10.1038/s41588-019-0576-7]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.
Nature genetics 52(3), 294-305 () [10.1038/s41588-019-0564-y]  GO BibTeX | EndNote: XML, Text | RIS

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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Nature genetics 52(3), 306-319 () [10.1038/s41588-019-0562-0]  GO BibTeX | EndNote: XML, Text | RIS

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Implications of New Understandings of Gliomas in Children and Adults with NF1: Report of a Consensus Conference.
Neuro-Oncology 22(6), 773-784 () [10.1093/neuonc/noaa036]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Nature Communications 11(1), 733 () [10.1038/s41467-019-13824-9]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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The evolutionary history of 2,658 cancers.
Nature <London> 578(7793), 122 - 128 () [10.1038/s41586-019-1907-7]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png  ;  ;  ; et al
Genomic basis for RNA alterations in cancer.
Nature <London> 578(7793), 129 - 136 () [10.1038/s41586-020-1970-0]  GO BibTeX | EndNote: XML, Text | RIS

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Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data.
Nature protocols 15(2), 479-512 () [10.1038/s41596-019-0251-6]  GO BibTeX | EndNote: XML, Text | RIS

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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 () [10.1111/nan.12590]  GO BibTeX | EndNote: XML, Text | RIS

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DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study.
The lancet child & adolescent health 4(2), 121-130 () [10.1016/S2352-4642(19)30342-6]  GO BibTeX | EndNote: XML, Text | RIS

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High density DNA methylation array is a reliable alternative for PCR-based analysis of the MGMT promoter methylation status in glioblastoma.
Pathology, research and practice 216(1), 152728 () [10.1016/j.prp.2019.152728]  GO BibTeX | EndNote: XML, Text | RIS

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Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
Acta neuropathologica 139(2), 243-257 () [10.1007/s00401-019-02101-0]  GO BibTeX | EndNote: XML, Text | RIS

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YAP1-fusions in pediatric NF2-wildtype meningioma.
Acta neuropathologica 139(1), 215-218 () [10.1007/s00401-019-02095-9]  GO BibTeX | EndNote: XML, Text | RIS

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Posterior fossa pilocytic astrocytomas with oligodendroglial features show frequent FGFR1 activation via fusion or mutation.
Acta neuropathologica 139(2), 403-406 () [10.1007/s00401-019-02097-7]  GO BibTeX | EndNote: XML, Text | RIS

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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 () [10.1007/s00401-019-02078-w]  GO BibTeX | EndNote: XML, Text | RIS

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