Search Results - "Hübschmann, Daniel"
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simplifyEnrichment: A Bioconductor Package for Clustering and Visualizing Functional Enrichment Results
Published in Genomics, proteomics & bioinformatics (01-02-2023)“…Functional enrichment analysis or gene set enrichment analysis is a basic bioinformatics method that evaluates the biological importance of a list of genes of…”
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Improve consensus partitioning via a hierarchical procedure
Published in Briefings in bioinformatics (13-05-2022)“…Abstract Consensus partitioning is an unsupervised method widely used in high-throughput data analysis for revealing subgroups and assigning stability for the…”
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Single-cell proteo-genomic reference maps of the hematopoietic system enable the purification and massive profiling of precisely defined cell states
Published in Nature immunology (01-12-2021)“…Single-cell genomics technology has transformed our understanding of complex cellular systems. However, excessive cost and a lack of strategies for the…”
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Evolutionary Trajectories of IDHWT Glioblastomas Reveal a Common Path of Early Tumorigenesis Instigated Years ahead of Initial Diagnosis
Published in Cancer cell (15-04-2019)“…We studied how intratumoral genetic heterogeneity shapes tumor growth and therapy response for isocitrate dehydrogenase (IDH)-wild-type glioblastoma, a rapidly…”
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Integrative genomic and transcriptomic analysis of leiomyosarcoma
Published in Nature communications (10-01-2018)“…Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically…”
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Precision oncology based on omics data: The NCT Heidelberg experience
Published in International journal of cancer (01-09-2017)“…Precision oncology implies the ability to predict which patients will likely respond to specific cancer therapies based on increasingly accurate,…”
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The landscape of chromothripsis across adult cancer types
Published in Nature communications (08-05-2020)“…Chromothripsis is a recently identified mutational phenomenon, by which a presumably single catastrophic event generates extensive genomic rearrangements of…”
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Genetic Interactions and Tissue Specificity Modulate the Association of Mutations with Drug Response
Published in Molecular cancer therapeutics (01-03-2020)“…In oncology, biomarkers are widely used to predict subgroups of patients that respond to a given drug. Although clinical decisions often rely on single gene…”
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Mutational patterns and regulatory networks in epigenetic subgroups of meningioma
Published in Acta neuropathologica (01-08-2019)“…DNA methylation patterns delineate clinically relevant subgroups of meningioma. We previously established the six meningioma methylation classes (MC) benign…”
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Defective homologous recombination DNA repair as therapeutic target in advanced chordoma
Published in Nature communications (09-04-2019)“…Chordomas are rare bone tumors with few therapeutic options. Here we show, using whole-exome and genome sequencing within a precision oncology program, that…”
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Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity
Published in Nature communications (02-08-2022)“…The benefit of molecularly-informed therapies in cancer of unknown primary (CUP) is unclear. Here, we use comprehensive molecular characterization by whole…”
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Human activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops
Published in Nucleic acids research (20-05-2022)“…Activation-induced deaminase (AID) is a DNA-cytosine deaminase that mediates maturation of antibodies through somatic hypermutation and class-switch…”
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Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management
Published in Frontiers in endocrinology (Lausanne) (23-03-2021)“…Parathyroid carcinoma (PC) is an orphan malignancy accounting for only ~1% of all cases with primary hyperparathyroidism. The localization of recurrent PC is…”
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Published in Nature communications (20-09-2021)“…Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This…”
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An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids
Published in Scientific reports (01-12-2023)“…Cerebral organoids recapitulate the structure and function of the developing human brain in vitro , offering a large potential for personalized therapeutic…”
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Fibroblast Activation Protein α-Directed Imaging and Therapy of Solitary Fibrous Tumor
Published in Journal of Nuclear Medicine (01-02-2024)“…Fibroblast activation protein α (FAPα) is expressed at high levels in several types of tumors. Here, we report the expression pattern of FAPα in solitary…”
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Gene expression-based prediction of pazopanib efficacy in sarcoma
Published in European journal of cancer (1990) (01-09-2022)“…The multi-receptor tyrosine kinase inhibitor pazopanib is approved for the treatment of advanced soft-tissue sarcoma and has also shown activity in other…”
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Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions
Published in Nature communications (02-01-2024)“…Linking clinical multi-omics with mechanistic studies may improve the understanding of rare cancers. We leverage two precision oncology programs to investigate…”
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Spatial niche formation but not malignant progression is a driving force for intratumoural heterogeneity
Published in Nature communications (13-06-2016)“…Intratumoural heterogeneity (ITH) is a major cause of cancer-associated lethality. Extensive genomic ITH has previously been reported in clear cell renal cell…”
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Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling
Published in Molecular oncology (01-07-2023)“…Parathyroid carcinoma (PC) is an ultra‐rare malignancy with a high risk of recurrence after surgery. Tumour‐directed systemic treatments for PC are not…”
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