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Publications of Pediatric Neurooncology

2020

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Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR).
Neuropathology & applied neurobiology 46(2), 186-189 () [10.1111/nan.12560]  GO BibTeX | EndNote: XML, Text | RIS

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Predisposition of Wingless Subgroup Medulloblastoma for Primary Tumor Hemorrhage.
Neurosurgery 86(4), 478-484 () [10.1093/neuros/nyz148]  GO BibTeX | EndNote: XML, Text | RIS

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EORTC SPECTA-AYA: A unique molecular profiling platform for adolescents and young adults with cancer in Europe.
International journal of cancer 147(4), 1180-1184 () [10.1002/ijc.32651]  GO BibTeX | EndNote: XML, Text | RIS

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Molecular correlates of cerebellar mutism syndrome in medulloblastoma.
Neuro-Oncology 22(2), 290-297 () [10.1093/neuonc/noz158]  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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Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.
Pediatric blood & cancer 67(1), e28022 () [10.1002/pbc.28022]  GO BibTeX | EndNote: XML, Text | RIS

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Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Journal of clinical oncology 38(1), 43-50 () [10.1200/JCO.19.00577]  GO BibTeX | EndNote: XML, Text | RIS

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Molecular characterization of histopathological ependymoma variants.
Acta neuropathologica 139(2), 305-318 () [10.1007/s00401-019-02090-0]  GO BibTeX | EndNote: XML, Text | RIS

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Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance.
Leukemia 34(4), 1187-1191 () [10.1038/s41375-019-0619-1]  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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Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
Acta neuropathologica 139(2), 277-286 () [10.1007/s00401-019-02094-w]  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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Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients.
Pediatric blood & cancer 67(2), e28074 () [10.1002/pbc.28074]  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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Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
Acta neuropathologica 139(3), 583-596 () [10.1007/s00401-019-02102-z]  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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DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics.213
Journal of cancer research and clinical oncology 146(1), 97-104 () [10.1007/s00432-019-03093-w]  GO BibTeX | EndNote: XML, Text | RIS

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Influence of family history on risk of second primary cancers and survival in squamous cell skin cancer patients.
British journal of dermatology 183(3), 488-494 () [10.1111/bjd.18809]  GO BibTeX | EndNote: XML, Text | RIS

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Medulloblastomics revisited: biological and clinical insights from thousands of patients.
Nature reviews / Cancer Cancer [...] 20(1), 42 - 56 () [10.1038/s41568-019-0223-8]  GO BibTeX | EndNote: XML, Text | RIS

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Epistatic effect of TLR3 and cGAS-STING-IKK?-TBK1-IFN signaling variants on colorectal cancer risk.
Cancer medicine 9(4), 1473-1484 () [10.1002/cam4.2804]  GO DBCoverage 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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Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT).
Neuro-Oncology 22(7), 1006-1017 () [10.1093/neuonc/noz244]  GO BibTeX | EndNote: XML, Text | RIS

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Molecular subgrouping of Atypical Teratoid / Rhabdoid Tumors (ATRT) - a reinvestigation and current consensus.
Neuro-Oncology 22(5), 613-624 () [10.1093/neuonc/noz235]  GO BibTeX | EndNote: XML, Text | RIS

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Inhibition of Rho-Associated Kinase Suppresses Medulloblastoma Growth.
Cancers 12(1), 73 () [10.3390/cancers12010073]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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The AHR pathway represses TGF?-SMAD3 signalling and has a potent tumour suppressive role in SHH medulloblastoma.
Scientific reports 10(1), 148 () [10.1038/s41598-019-56876-z]  GO DBCoverage 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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Rapid and Sensitive Drug Quantification in Tissue Sections Using Matrix Assisted Laser Desorption Ionization-Ion Mobility-Mass Spectrometry Profiling.
Journal of the American Society for Mass Spectrometry 31(3), 742-751 () [ 10.1021/jasms.0c00005 ]  GO BibTeX | EndNote: XML, Text | RIS

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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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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

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Telomere maintenance in interplay with DNA repair in pathogenesis and treatment of colorectal cancer.
Mutagenesis 35(3), 261-271 () [10.1093/mutage/geaa005]  GO BibTeX | EndNote: XML, Text | RIS

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Larotrectinib in patients with TRK fusion-positive solid tumours: a pooled analysis of three phase 1/2 clinical trials.
The lancet <London> / Oncology Oncology 21(4), 531-540 () [10.1016/S1470-2045(19)30856-3]  GO BibTeX | EndNote: XML, Text | RIS

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Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia.
Leukemia 34(10), 2785-2789 () [10.1038/s41375-020-0779-z]  GO BibTeX | EndNote: XML, Text | RIS

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An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity.
Nature Communications 11(1), 1310 () [10.1038/s41467-020-15155-6]  GO DBCoverage 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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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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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 BibTeX | EndNote: XML, Text | RIS

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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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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

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Invited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond.
Neuropathology & applied neurobiology 46(1), 57 - 72 () [10.1111/nan.12616]  GO BibTeX | EndNote: XML, Text | RIS

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Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.
Frontiers in Bioengineering and Biotechnology 8, 179 () [10.3389/fbioe.2020.00179]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Nonmetastatic Medulloblastoma of Early Childhood: Results From the Prospective Clinical Trial HIT-2000 and An Extended Validation Cohort.
Journal of clinical oncology 38(18), 2028-2040 () [10.1200/JCO.19.03057]  GO BibTeX | EndNote: XML, Text | RIS

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Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors.
Nature medicine 26(5), 712-719 () [10.1038/s41591-020-0821-8]  GO BibTeX | EndNote: XML, Text | RIS

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A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival.
Pediatric blood & cancer 67(7), e28384 () [10.1002/pbc.28384]  GO 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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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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cIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors.
Brain pathology 30(5), 863-866 () [10.1111/bpa.12866]  GO BibTeX | EndNote: XML, Text | RIS

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A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
Cancers 12(6), 1441 () [10.3390/cancers12061441]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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In vivo functional screening for systems-level integrative cancer genomics.
Nature reviews / Cancer Cancer 20(10), 573-593 () [10.1038/s41568-020-0275-9]  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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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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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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Search for multiple myeloma risk factors using Mendelian randomization.
Blood advances 4(10), 2172 - 2179 () [10.1182/bloodadvances.2020001502]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Molecular tumor classification using DNA methylome analysis.
Human molecular genetics 29(R2), R205-R213 () [10.1093/hmg/ddaa147]  GO BibTeX | EndNote: XML, Text | RIS

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Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.
Scientific reports 10(1), 11562 () [10.1038/s41598-020-68212-x]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma.
Cancer cell 38(1), 44 - 59.e9 () [10.1016/j.ccell.2020.06.004]  GO BibTeX | EndNote: XML, Text | RIS

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Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium.
Blood cancer journal 10(7), 75 () [10.1038/s41408-020-00341-y]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Comparison of tumor-associated YAP1 fusions identifies a recurrent set of functions critical for oncogenesis.
Genes & development 34(15-16), 1051-1064 () [10.1101/gad.338681.120]  GO BibTeX | EndNote: XML, Text | RIS

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Rapid and Sensitive Quantification of Osimertinib in Human Plasma Using a Fully Validated MALDI-IM-MS/MS Assay.
Cancers 12(7), E1897 () [10.3390/cancers12071897]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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ETMR: a tumor entity in its infancy
Acta neuropathologica 140(3), 249-266 () [10.1007/s00401-020-02182-2]  GO BibTeX | EndNote: XML, Text | RIS

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Familial risks between Graves disease and Hashimoto thyroiditis and other autoimmune diseases in the population of Sweden.
Journal of translational autoimmunity 3, 100058 () [10.1016/j.jtauto.2020.100058]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells.
Proceedings of the National Academy of Sciences of the United States of America 117(33), 20127-20138 () [10.1073/pnas.1920521117]  GO BibTeX | EndNote: XML, Text | RIS

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Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.
Hereditary cancer in clinical practice 18(1), 15 () [10.1186/s13053-020-00146-x]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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CLUE: a bioinformatic and wet-lab pipeline for multiplexed cloning of custom sgRNA libraries.
Nucleic acids research 48(13), e78 () [10.1093/nar/gkaa459]  GO DBCoverage   Download fulltextFulltext by Pubmed Central 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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Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.
Genes & development 34(17-18), 1161-1176 () [10.1101/gad.337584.120]  GO BibTeX | EndNote: XML, Text | RIS

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Incidence Differences Between First Primary Cancers and Second Primary Cancers Following Skin Squamous Cell Carcinoma as Etiological Clues.
Clinical epidemiology 12, 857 - 864 () [10.2147/CLEP.S256662]  GO DBCoverage   Download fulltextFulltext by Pubmed Central 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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SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability.
Genes & development 34(19-20), 1316-1329 () [10.1101/gad.339978.120]  GO BibTeX | EndNote: XML, Text | RIS

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Rate differences between first and second primary cancers may outline immune dysfunction as a key risk factor.
Cancer medicine 9(21), 8258-8265 () [10.1002/cam4.3454]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Cancer Predisposition Genes in Cancer-Free Families.
Cancers 12(10), 2770 () [10.3390/cancers12102770]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Impact of genetic polymorphisms in kinetochore and spindle assembly genes on chromosomal aberration frequency in healthy humans
Mutation research / Genetic toxicology and environmental mutagenesis 858-860, 503253 () [10.1016/j.mrgentox.2020.503253]  GO 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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Selective estrogen receptor modulators decrease invasiveness in pituitary adenoma cell lines AtT-20 and TtT/GF by affecting expression of MMP-14 and ADAM12.
FEBS Open Bio 10(11), 2489-2498 () [10.1002/2211-5463.12999]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Functional precision medicine identifies new therapeutic candidates for medulloblastoma.
Cancer research 80(23), 5393-5407 () [10.1158/0008-5472.CAN-20-1655]  GO BibTeX | EndNote: XML, Text | RIS

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Familial associations between autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases.
PLOS ONE 15(10), e0240794 - () [10.1371/journal.pone.0240794]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Familial associations for Addison disease and between Addison disease and other autoimmune diseases.
Endocrine Connections 9(11), 1114-1120 () [10.1530/EC-20-0328]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Hypothetical Proteins as Predecessors of Long Non-coding RNAs
Current genomics 21(7), 531 - 535 () [10.2174/1389202921999200611155418]  GO BibTeX | EndNote: XML, Text | RIS

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Genetic and epigenetic landscape of IDH-wildtype glioblastomas with FGFR3-TACC3 fusions.
Acta Neuropathologica Communications 8(1), 186 () [10.1186/s40478-020-01058-6]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Evaluation of Prognostic Factors and Role of Participation in a Randomized Trial or a Prospective Registry in Pediatric and Adolescent Nonmetastatic Medulloblastoma ? A Report From the HIT 2000 Trial
Advances in radiation oncology 5(6), 1158-1169 () [10.1016/j.adro.2020.09.018]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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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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Familial associations for rheumatoid autoimmune diseases.
Rheumatology advances in practice 4(2), rkaa048 () [10.1093/rap/rkaa048]  GO DBCoverage   Download fulltextFulltext by Pubmed Central 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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Familial risks between giant cell arteritis and Takayasu arteritis and other autoimmune diseases in the population of Sweden.
Scientific reports 10(1), 20887 () [10.1038/s41598-020-77857-7]  GO DBCoverage BibTeX | EndNote: XML, Text | RIS

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Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation.
Cancers 12(11), 3465 () [10.3390/cancers12113465]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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Advances and Challenges in Pediatric and Childhood Cancers.
Cancer cell 38(4), 429 - 432 () [10.1016/j.ccell.2020.09.013]  GO BibTeX | EndNote: XML, Text | RIS

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Compromised DNA repair is responsible for diabetes-associated fibrosis.
The EMBO journal 39(11), e103477 () [10.15252/embj.2019103477]  GO pmc   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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A theoretical model of neural maturation in the developing chick spinal cord.
PLOS ONE 15(12), e0244219 - () [10.1371/journal.pone.0244219]  GO DBCoverage 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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Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes.
Frontiers in oncology 10, 584681 () [doi: 10.3389/fonc.2020.584681.]  GO DBCoverage   Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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