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Detection of structural DNA variants in medulloblastomas using optical genome mapping.

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第一作者： Nadezhda,Kubon

第一单位： Institute of Neuropathology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

作者： Nadezhda,Kubon ^[1] ; Mirela,Bălan ^[2] ; David,Koppstein ^[3] ; Sophia,Praeger ^[3] ; Marietta,Wolter ^[1] ; Peter,Ebert ^[4] ; David,Pauck ^[1] ; Jörg,Felsberg ^[1] ; Thomas,Beez ^[5] ; Daniel,Picard ^[6] ; Marc,Remke ^[6] ; Guido,Reifenberger ^[7]

作者单位： Institute of Neuropathology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany. ^[1] Department of Rheumatology, Medical Faculty of Heinrich Heine University, University Hospital Düsseldorf, Düsseldorf, Germany.;Hiller Research Center, Medical Faculty of Heinrich Heine University, University Hospital Düsseldorf, Düsseldorf, Germany. ^[2] Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.;Cancer Bioinformatics and Multiomics (ED08) German Cancer Research Center (DKFZ), Heidelberg, Germany.;German Cancer Consortium (DKTK), partner site Essen/Düsseldorf, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. ^[3] Core Unit Bioinformatics (CUBI), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. ^[4] Department of Neurosurgery, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany. ^[5] Department of Pediatric Hematology and Oncology, University Medical Center of Saarland, Homburg, Saar, Germany. ^[6] Institute of Neuropathology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany. reifenberger@med.uni-duesseldorf.de.;German Cancer Consortium (DKTK), partner site Essen/Düsseldorf, Düsseldorf, Germany. reifenberger@med.uni-duesseldorf.de. ^[7]

关键词 DNA copy number profile Medulloblastoma groups Optical genome mapping Pediatric brain tumors Structural variants

医学主题词人类(Humans);髓母细胞瘤(Medulloblastoma);小脑肿瘤(Cerebellar Neoplasms);DNA拷贝数变异(DNA Copy Number Variations);细胞系, 肿瘤(Cell Line, Tumor);女(雌)性(Female);染色体图(Chromosome Mapping);染色体结构变异(Genomic Structural Variation);男(雄)性(Male);儿童(Child)

DOI 10.1186/s40478-026-02245-7

PMID 41673725

发布时间 2026-06-28

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Acta neuropathologica communications

2026年14卷1期

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Detection of structural DNA variants in medulloblastomas using optical genome mapping.

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Detection of structural DNA variants in medulloblastomas using optical genome mapping.

Acta neuropathologica communications

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