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List of works by David T. W. Jones

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

article

A biobank of patient-derived pediatric brain tumor models

scientific article published on 22 October 2018

A cell-based MAPK reporter assay reveals synergistic MAPK pathway activity suppression by MAPK inhibitor combination in BRAF-driven pediatric low-grade glioma cells

scientific article published on 25 May 2020

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A comprehensive multicenter comparison of whole genome sequencing pipelines using a uniform tumor-normal sample pair

A novel cloning strategy for one-step assembly of multiplex CRISPR vectors

scientific article published in Scientific Reports

A novel method for rapid molecular subgrouping of medulloblastoma.

scientific article

A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR

scientific article published on 01 November 2020

ACTR-05. THE RANDOMIZED PHASE II ARTE TRIAL: BEVACIZUMAB PLUS HYPOFRACTIONATED RADIOTHERAPY VERSUS RADIOTHERAPY ALONE IN ELDERLY PATIENTS WITH NEWLY DIAGNOSED GLIOBLASTOMA.

scientific article published on 6 November 2017

AKT1E17K mutations cluster with meningothelial and transitional meningiomas and can be detected by SFRP1 immunohistochemistry

scientific article published on 6 October 2013

ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma

scientific article published on 27 November 2014

ATYPICAL TERATOID RHABDOID TUMOUR

Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.

scientific article published on 25 November 2012

Abstract 3094: Epigenetic classification of ependymal brain tumors across age groups

Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology

Abstracts of the 10th Congress of the European Association of NeuroOncology. Marseille, France. September 6-9, 2012

scientific article published in September 2012

Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data

scientific article published on 17 December 2020

Active medulloblastoma enhancers reveal subgroup-specific cellular origins

scientific article published on 27 January 2016

Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles

scientific article published on 29 February 2016

Adult IDH wild type astrocytomas biologically and clinically resolve into other tumor entities

scientific article published on 19 June 2015

Adult grade II diffuse astrocytomas are genetically distinct from and more aggressive than their paediatric counterparts.

scientific article

Advances and Challenges in Pediatric and Childhood Cancers

scientific article published on 01 October 2020

An activated mutant BRAF kinase domain is sufficient to induce pilocytic astrocytoma in mice

scientific article

An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data

scientific article published on 31 May 2020

Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations

scientific article published on 21 March 2018

Arhgap36-dependent activation of Gli transcription factors

scientific article

Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information

scientific article published on 23 March 2018

Assessing CpG island methylator phenotype, 1p/19q codeletion, and MGMT promoter methylation from epigenome-wide data in the biomarker cohort of the NOA-04 trial

scientific article

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

scientific article

Author Correction: The landscape of genomic alterations across childhood cancers

scientific article published in Nature

BI-30 * CHARACTERIZATION OF L1CAM AS A CLINICAL MARKER FOR THE C11orf95-RELA FUSION IN SUPRATENTORIAL EPENDYMOMAS

BRAF V600E Status Alone Is Not Sufficient as a Prognostic Biomarker in Pediatric Low-Grade Glioma

scientific article published on 15 November 2017

Bevacizumab plus hypofractionated radiotherapy versus radiotherapy alone in elderly patients with glioblastoma: the randomized, open-label, phase II ARTE trial

scientific article

Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.

scientific article

Brainstem biopsy in pediatric diffuse intrinsic pontine glioma in the era of precision medicine: the INFORM study experience

scientific article published on 22 April 2019

CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas

scientific article published on 08 July 2020

Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated <i>ROS1/NTRK</i>-Fusion Positive Pediatric High-Grade Glioma

scientific article published on 18 December 2020

Challenges to curing primary brain tumours

scientific article published on 01 August 2019

Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.

scientific article published on 20 March 2017

Chordoid meningiomas can be sub-stratified into prognostically distinct DNA methylation classes and are enriched for heterozygous deletions of chromosomal arm 2p

scientific article published on 31 October 2018

Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1

scientific article published on 14 December 2020

Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.

scientific article

Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities

scientific article

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

scientific article published on 27 December 2018

Connect four with glioblastoma stem cell factors

scientific article published in April 2014

Correction to: DNA methylation-based reclassification of olfactory neuroblastoma

scientific article published on 01 September 2018

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

scientific article published in Nature

Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies

scientific article

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

scientific article published on 6 July 2016

Cytogenetic prognostication within medulloblastoma subgroups

scientific article published on 03 February 2014

DECIPHER pooled shRNA library screen identifies PP2A and FGFR signaling as potential therapeutic targets for diffuse intrinsic pontine gliomas

scientific article published on 01 July 2019

DIPG-22. IDENTIFICATION OF THERAPEUTIC TARGETS IN DIPGS USING LARGE-SCALE RNAI SCREENING.

scientific article published on 31 May 2017

DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma

scientific article published on 20 March 2019

DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas

scientific article published on 01 February 2019

DNA methylation, transcriptome and genetic copy number signatures of diffuse cerebral WHO grade II/III gliomas resolve cancer heterogeneity and development

DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis

scientific article published on 14 March 2017

DNA methylation-based classification of central nervous system tumours

scientific article published on 14 March 2018

DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study

scientific article published on 27 November 2019

DNA methylation-based reclassification of olfactory neuroblastoma

scientific article published on 05 May 2018

DNA-methylation profiling discloses significant advantages over NanoString method for molecular classification of medulloblastoma

scientific article published on 13 October 2017

Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing

scientific article

Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors

scientific article published in Nature Communications

Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma

scientific article

Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations

article

Desmoplastic/nodular medulloblastomas (DNMB) and medulloblastomas with extensive nodularity (MBEN) disclose similar epigenetic signatures but different transcriptional profiles

scientific article published on 02 March 2019

Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease

scientific article published on 21 January 2017

Differential expression and methylation of brain developmental genes define location-specific subsets of pilocytic astrocytoma

scientific article published on 10 May 2013

Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) - a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

scientific article published on 23 December 2019

Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases

scientific article published on 30 June 2020

Dissecting the genomic complexity underlying medulloblastoma

scientific article

Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

scientific article published on 24 October 2013

Divergent clonal selection dominates medulloblastoma at recurrence

scientific article published on 13 January 2016

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

scientific article (publication date: 29 January 2012)

Drivers underpinning the malignant transformation of giant cell tumour of bone

scientific article published on 31 August 2020

Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors

scientific article published on 25 October 2016

Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas.

scientific article

EG-09EPIGENETIC PROFILING REVEALS A CpG HYPERMETHYLATION PHENOTYPE (CIMP) ASSOCIATED WITH WORSE PROGRESSION-FREE SURVIVAL IN MENINGIOMA.

scientific article published in November 2014

EGFL7 enhances surface expression of integrin αβ to promote angiogenesis in malignant brain tumors

scientific article published on 01 September 2018

EMBR-02. RECURRENT HOMOZYGOUS DELETION OF DROSHA AND MICRODUPLICATION OF PDE4DIP CONTAINING THE ANCESTRAL DUF1220 DOMAIN IN PINEOBLASTOMA

EP-03MOLECULAR CLASSIFICATION OF EPENDYMAL TUMORS ACROSS ALL CNS COMPARTMENTS, HISTOPATHOLOGICAL GRADES AND AGE GROUPS.

scientific article published on 21 April 2015

EPEN-06. YAP1 SUBGROUP SUPRATENTORIAL EPENDYMOMA REQUIRES TEAD AND NUCLEAR FACTOR I-MEDIATED TRANSCRIPTIONAL PROGRAMS FOR TUMORIGENESIS

scientific article published on 23 April 2019

EPEN-23. MOLECULAR HETEROGENEITY AMONG PEDIATRIC POSTERIOR FOSSA EPENDYMOMA

EPEN-24. YAP1 FUSION PROTEINS MEDIATE ONCOGENIC ACTIVITY IN EPENDYMOMA VIA INTERACTION WITH TEAD TRANSCRIPTION FACTORS.

scientific article published on 22 June 2018

EPENDYMOMA

article

EPIG-04THE CHROMATIN LANDSCAPE OF MEDULLOBLASTOMA.

scientific article

EPN-30YAP1-MAMLD1 FUSIONS ALONE ARE SUFFICIENT TO FORM SUPRATENTORIAL EPENDYMOMA-LIKE TUMORS IN MICE.

scientific article published on 30 May 2016

EPN-31MOLECULAR REFINEMENT OF PEDIATRIC POSTERIOR FOSSA EPENDYMOMA.

scientific article published on 30 May 2016

EPN-34EPIGENOMIC ANALYSIS OF EPENDYMAL TUMORS IDENTIFIES SUBGROUP SPECIFIC ENHANCERS CONTROLLING DISTINCT REGULATORY CIRCUITRIES.

scientific article published on 30 May 2016

EPND-07. MOLECULAR HETEROGENEITY AMONG PEDIATRIC POSTERIOR FOSSA EPENDYMOMA.

scientific article published on 31 May 2017

Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

scientific article

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

scientific article

EpCAM (CD326) is differentially expressed in craniopharyngioma subtypes and Rathke's cleft cysts

scientific article published on 19 July 2016

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

scientific article

Epithelioid glioblastomas stratify into established diagnostic subsets upon integrated molecular analysis.

scientific article

Erratum to: Gliomatosis cerebri: no evidence for a separate brain tumor entity

scientific article published on 7 January 2016

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Establishment and application of a novel patient-derived KIAA1549:BRAF-driven pediatric pilocytic astrocytoma model for preclinical drug testing

scientific article published on 17 December 2016

Evidence of H3 K27M mutations in posterior fossa ependymomas

scientific article

Evolutionary Trajectories of IDH Glioblastomas Reveal a Common Path of Early Tumorigenesis Instigated Years ahead of Initial Diagnosis

scientific article published on 21 March 2019

Extensive Molecular and Clinical Heterogeneity in Patients With Histologically Diagnosed CNS-PNET Treated as a Single Entity: A Report From the Children's Oncology Group Randomized ACNS0332 Trial

scientific article published on 17 October 2018

FAM131B-BRAF Fusion Gene Resulting From 7q34 Deletion Leads to MAPK Pathway Activation in Pilocytic Astrocytoma

FAM131B-BRAF Fusion Gene Resulting From 7q34 Deletion Leads to MAPK Pathway Activation in Pilocytic Astrocytoma

FBW7 suppression leads to SOX9 stabilization and increased malignancy in medulloblastoma

scientific article

FGFR1:TACC1 fusion is a frequent event in molecularly defined extraventricular neurocytoma.

scientific article

Farewell to oligoastrocytoma: in situ molecular genetics favor classification as either oligodendroglioma or astrocytoma

scientific article published on 21 August 2014

Feasibility of real-time molecular profiling for patients with newly diagnosed glioblastoma without MGMT promoter-hypermethylation - the NCT Neuro Master Match (N2M2) pilot study

scientific article published on 18 November 2017

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

scientific article

From class waivers to precision medicine in paediatric oncology.

scientific article published in July 2017

GE-07DNA METHYLATION IN MEDULLOBLASTOMA AND MOLECULAR DIAGNOSTICS OF BRAIN TUMORS.

scientific article published on 21 April 2015

GENE-04. ESTABLISHING A MOLECULAR PROFILING SERVICE FOR CHILDREN’S CENTRAL NERVOUS SYSTEM TUMORS IN AUSTRALASIA – THE AUSTRALIAN AND NEW ZEALAND CHILDREN’S HAEMATOLOGY AND ONCOLOGY GROUP (ANZCHOG) AIM BRAIN PROJECT

scientific article published on 23 April 2019

GENE-06. DISTINCT MOLECULAR SUBGROUPS OF TUMORS OF THE PINEAL REGION CORRELATE WITH CLINICAL PARAMETERS AND GENETIC ALTERATIONS

scientific article published on 23 April 2019

GENE-08. THE MNP 2.0 STUDY: PROSPECTIVE INTEGRATION OF DNA METHYLATION PROFILING IN CNS TUMOR DIAGNOSTICS

GENE-12. ANAPLASTIC NEUROEPITHELIAL TUMOR WITH CONDENSED NUCLEI (ANTCON): A NOVEL BRAIN TUMOR ENTITY WITH RECURRENT NTRK FUSION

GENO-20NOVEL CANDIDATE ONCOGENIC DRIVERS IN PINEOBLASTOMA.

scientific article

Gain of 12p encompassing CCND2 is associated with gemistocytic histology in IDH mutant astrocytomas

scientific article published on 20 December 2016

Genetic aberrations leading to MAPK pathway activation mediate oncogene-induced senescence in sporadic pilocytic astrocytomas

scientific article published on 24 May 2011

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

scientific article

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

scientific article

Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.

scientific article

Genomic analysis of pilocytic astrocytomas at 0.97 Mb resolution shows an increasing tendency toward chromosomal copy number change with age.

scientific article

Genomic and transcriptomic analyses match medulloblastoma mouse models to their human counterparts

scientific article published on 29 May 2014

Genomic footprints of activated telomere maintenance mechanisms in cancer

scientific article published on 05 February 2020

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

scientific article published on 15 February 2017

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

scientific article published on 01 April 2020

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

scientific article published on 26 February 2016

Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns

scientific article published on 08 September 2020

Gliomatosis cerebri: no evidence for a separate brain tumor entity

scientific article published on 22 October 2015

Global epigenetic profiling identifies methylation subgroups associated with recurrence-free survival in meningioma.

scientific article

H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers

scientific article published on 11 April 2017

HG-09INFANTILE GLIOBLASTOMA WITH SARCOMATOUS HISTOLOGY DRIVEN BY ETV6:NTRK3 FUSIONS ARE SENSITIVE TO TRK INHIBITION BY PHA-848125.

scientific article

HG-127ANAPLASTIC PLEOMORPHIC XANTHOASTROCYTOMAS: A CLINICOPATHOLOGIC AND MOLECULAR PROFILE.

scientific article published on 30 May 2016

HG-68COMBINED ALTERATIONS IN MAPK PATHWAY GENES, CDKN2A/B AND ATRX CHARACTERIZE ANAPLASTIC PILOCYTIC ASTROCYTOMA.

scientific article published on 30 May 2016

HG-75CLINICAL, RADIOLOGICAL, AND HISTO-GENETIC CHARACTERISTICS OF LONG-TERM SURVIVORS OF DIFFUSE INTRINSIC PONTINE GLIOMA: A COLLABORATIVE REPORT FROM THE INTERNATIONAL AND SIOP-E DIPG REGISTRIES.

scientific article published on 30 May 2016

HGG-03. INTEGRATED MOLECULAR AND PATHOLOGICAL CHARACTERISATION OF NON-BRAINSTEM PAEDIATRIC HIGH GRADE GLIOMA FROM THE HERBY PHASE II RANDOMISED TRIAL.

scientific article published on 31 May 2017

HGG-20. DNA METHYLATION ANALYSIS OF HIGH-GRADE GLIOMA IN PATIENTS WITH MISMATCH REPAIR DEFICIENCIES

HGG-24. MOLECULAR, PATHOLOGICAL, RADIOLOGICAL AND IMMUNE PROFILING OF NON-BRAINSTEM PAEDIATRIC HIGH GRADE GLIOMA FROM THE HERBY PHASE II RANDOMISED TRIAL

scientific article published on 22 June 2018

High Grade Gliomas and DIPG

scholarly article

High density DNA methylation array is a reliable alternative for PCR-based analysis of the MGMT promoter methylation status in glioblastoma

scientific article published on 11 November 2019

Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity

scientific article published on 19 October 2015

Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases

scientific article

Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation

scientific article published on 19 March 2020

Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis

scientific article published on 20 November 2020

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

scientific article published in October 2012

Hypermutation of the inactive X chromosome is a frequent event in cancer

scientific article published on 17 October 2013

IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas

scientific article published on 12 May 2009

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

scientific article published on 05 June 2020

Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype.

scientific article published on 10 August 2017

Implications of New Understandings of Gliomas in Children and Adults with NF1: Report of a Consensus Conference

scientific article published on 14 February 2020

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

scientific article published on 01 April 2020

Infratentorial IDH-mutant astrocytoma is a distinct subtype

scientific article published on 10 August 2020

Integrated DNA methylation and copy-number profiling identify three clinically and biologically relevant groups of anaplastic glioma

scientific article published on 10 July 2014

Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma

scientific article published on 26 September 2017

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

scientific article published on 10 March 2015

Integrated genomics elucidates relative spatial homogeneity of embryonal brain tumors.

scientific article

Integrated molecular characterization of IDH-mutant glioblastomas

scientific article published on 15 November 2018

Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

scientific article published on 28 September 2019

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

scientific article

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

scientific article published on 30 May 2016

LGG-02. A PHASE II PROSPECTIVE TRIAL OF SELUMETINIB IN CHILDREN WITH RECURRENT/PROGRESSIVE PEDIATRIC LOW-GRADE GLIOMA (PLGG) WITH A FOCUS UPON OPTIC PATHWAY/HYPOTHALAMIC TUMORS AND VISUAL ACUITY OUTCOMES: A PEDIATRIC BRAIN TUMOR CONSORTIUM (PBTC) ST

LGG-04. CLINICO-HISTO-MOLECULAR LANDSCAPE OF EIGHTY-TWO PEDIATRIC AND YOUNG ADULT DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS

LGG-11. REGULATION OF ONCOGENE-INDUCED SENESCENCE IN PILOCYTIC ASTROCYTOMA.

scientific article published on 22 June 2018

LGG-13. PAPILLARY GLIONEURONAL TUMOR (PGNT) EXHIBITS A CHARACTERISTIC METHYLATION PROFILE AND MANDATORY FUSIONS INVOLVING PRKCA

LGG-20. MOLECULARLY-DEFINED DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT) COMPRISES TWO SUBGROUPS WITH DISTINCT CLINICAL AND GENETIC FEATURES

LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR)

scientific article published on 16 November 2012

Low-dose Actinomycin-D treatment re-establishes the tumoursuppressive function of P53 in RELA-positive ependymoma

scientific article published on 20 August 2016

MAPK pathway activation in pilocytic astrocytoma

scientific article

MB-08MOLECULAR (RE-)CLASSIFICATION OF CNS-PRIMITIVE NEUROECTODERMAL TUMORS.

scientific article published on 21 April 2015

MB-17NOVEL CANDIDATE ONCOGENIC DRIVERS IN PINEOBLASTOMA.

scientific article

MB-18DYSFUNCTION OF THE CHROMATIN REMODELER Chd7 CAUSES ABNORMAL CEREBELLAR DEVELOPMENT AND ACCELERATES MEDULLOBLASTOMA FORMATION.

scientific article published on 30 May 2016

MB-21INTEGRATED GENOMICS ELUCIDATES RELATIVE SPATIAL HOMOGENEITY OF EMBRYONAL BRAIN TUMORS.

scientific article published on 21 April 2015

MB-46PROGNOSTIC RELEVANCE OF EPIGENETIC/BIOLOGICAL SUBGROUPS AND MYCC/MYCN GENE AMPLIFICATION IN A HOMOGENOUSLY TREATED METASTATIC MEDULLOBLASTOMA HIT2000 COHORT AGED 4-21 YEARS.

scientific article published on 30 May 2016

MBCL-44. THE MOLECULAR AND CLINICAL LANDSCAPE OF INFANT MEDULLOBLASTOMA (iMB): RESULTS AND MOLECULAR ANALYSIS FROM A PROSPECTIVE, MULTICENTER PHASE II TRIAL (SJYC07)

MBRS-34. MOLECULAR CHARACTERIZATION OF RECURRENT MEDULLOBLASTOMA REVEALS AN UNEXPECTEDLY HIGH INCIDENCE OF SECONDARY MALIGNANCY.

scientific article published on 22 June 2018

MEDULLOBLASTOMA

MEDULLOBLASTOMA

MGMT CpG island is invariably methylated in adult astrocytic and oligodendroglial tumors with IDH1 or IDH2 mutations.

scientific article published on 11 January 2012

MPTH-15MOLECULAR RECLASSIFICATION OF CNS-PRIMITIVE NEUROECTODERMAL TUMORS INTO WELL-KNOWN AND NOVEL TUMOR ENTITIES.

scientific article

MPTH-26MOLECULAR REFINEMENT OF PEDIATRIC POSTERIOR FOSSA EPENDYMOMA.

scientific article

MPTH-59. ANAPLASTIC PLEOMORPHIC XANTHOASTROCYTOMAS: A CLINICOPATHOLOGIC AND MOLECULAR PROFILE

MYCN amplification drives an aggressive form of spinal ependymoma

scientific article published on 14 August 2019

Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data

scientific article published on 13 January 2020

Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions.

scientific article

Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group.

scientific article published on 22 November 2013

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

scientific article (publication date: 22 July 2012)

Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress

scientific article published on 05 April 2016

Medulloblastomics: the end of the beginning

scientific article published on December 2012

Melanotic tumors of the nervous system are characterized by distinct mutational, chromosomal and epigenomic profiles

scientific article published on 15 December 2014

Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein

scientific article published on 11 April 2013

Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature

scientific article published on 4 May 2017

Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre

Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.

scientific article

Methylation profiling of choroid plexus tumors reveals 3 clinically distinct subgroups

scientific article published on 28 January 2016

Methylation profiling of paediatric pilocytic astrocytoma reveals variants specifically associated with tumour location and predictive of recurrence

scientific article published on 7 April 2017

Methylation-based classification of benign and malignant peripheral nerve sheath tumors

scientific article published on 8 February 2016

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

scientific article published on 24 August 2018

Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups

scientific article

Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series

scientific article published on 11 July 2018

Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years

scientific article published on August 2017

Molecular characteristics and therapeutic vulnerabilities across paediatric solid tumours

scientific article published on 12 July 2019

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

scientific article published on 22 March 2018

Molecular differences in IDH wildtype glioblastoma according to MGMT promoter methylation.

scientific article published on 24 August 2017

Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas

scientific article published on 16 June 2018

Molecular profiling of long-term survivors identifies a subgroup of glioblastoma characterized by chromosome 19/20 co-gain

scientific article published on May 2015

Molecular progression of SHH-activated medulloblastomas

scientific article published on 27 April 2019

Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations

scientific article published on 25 November 2019

Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas

scientific article

Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial.

scientific article published in May 2018

Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features.

scientific article

Multicenter pilot study of radio-chemotherapy as first-line treatment for adults with medulloblastoma (NOA-07).

scientific article published on 21 August 2017

Multidimensional scaling of diffuse gliomas: application to the 2016 World Health Organization classification system with prognostically relevant molecular subtype discovery

scientific article

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis

scientific article published on 29 July 2016

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

scientific article published on 08 May 2019

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

scientific article published on 16 February 2013

Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile

scientific article published on 13 July 2018

N2M2 (NOA20) phase I/II trial of molecularly matched targeted therapies plus radiotherapy in patients with newly diagnosed non-MGMT hypermethylated glioblastoma

scientific article published on 01 January 2019

NEURO/MEDICAL ONCOLOGY

NEXT-GENERATION NEUROPATHOLOGY - IMPROVING DIAGNOSTIC ACCURACY FOR BRAIN TUMORS USING DNA METHYLATION ARRAY-BASED MOLECULAR PROFILING.

scientific article published in July 2014

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

scientific article

Next-generation (epi)genetic drivers of childhood brain tumours and the outlook for targeted therapies

scientific article published on 27 May 2015

Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study

scientific article published on 28 July 2016

Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

scientific article published on 15 December 2015

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

scientific article published on 11 March 2016

Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age.

scientific article published on 10 September 2015

Novel, improved grading system(s) for IDH-mutant astrocytic gliomas

scientific article published on 23 April 2018

Nuclear relocation of STAT6 reliably predicts NAB2-STAT6 fusion for the diagnosis of solitary fibrous tumour

scientific article

OMICS AND PROGNSTIC MARKERS

article

OS6.1 Molecular characterization of astroblastoma.

scientific article

Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma

scientific article published on 20 March 2011

Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma

scientific article published on 13 April 2009

P04.01RELA FUSION DEFINES CLINICOPATHOLOGIC SUBSETS OF SUPRATENTORIAL EPENDYMOMA: A STUDY FROM THE COLLABORATIVE EPENDYMOMA RESEARCH NETWORK.

scientific article published in September 2014

P06.08 BRAINTuNE: Brain Tumor Neoepitope Evaluation for personalized glioma immunotherapy.

scientific article

P08.25 de novo transcriptome assembly finds novel glioblastoma subtype-specific transcripts.

scientific article

P08.48 Combined alterations in MAPK pathway genes, CDKN2A/B and ATRX characterize anaplastic pilocytic astrocytoma.

scientific article published on 21 September 2016

P08.76 Anti-EGFL7 treatment as an add-on for glioma therapy.

scientific article published on 21 September 2016

PATH-32. MOLECULAR HETEROGENEITY AMONG PEDIATRIC POSTERIOR FOSSA EPENDYMOMA

PCLN-01. GENERATION, CHARACTERIZATION AND TREATMENT OF NOVEL MURINE MODELS FOR HUMAN PEDIATRIC GLIOMA.

scientific article

PCM-16MOLECULAR CHARACTERIZATION OF ORTHOTOPIC PATIENT-DERIVED XENOGRAFT MODELS OF PEDIATRIC BRAIN TUMORS.

scientific article

PDCT-05. MOLECULAR DIAGNOSTICS REVEAL 60% HIGHER SURVIVAL FOR MOLECULARLY-VERIFIED VERSUS HISTOPATHOLOGICALLY-DIAGNOSED PEDIATRIC SUPRATENTORIAL CENTRAL NERVOUS SYSTEM EMBRYONAL TUMORS AND PINEOBLASTOMAS; A REPORT FROM THE CHILDREN’S ONCOLOGY GROUP

PDTM-47. CHARACTERIZATION OF THE SENESCENCE-ASSOCIATED SECRETORY PHENOTYPE IN PILOCYTIC ASTROCYTOMA AND ITS ROLE IN ONCOGENE-INDUCED SENESCENCE

PID1 (NYGGF4), a new growth-inhibitory gene in embryonal brain tumors and gliomas

scientific article published on 03 December 2013

PM-09ESTABLISHMENT AND MOLECULAR CHARACTERIZATION OF PATIENT-DERIVED XENOGRAFT MODELS OF PEDIATRIC BRAIN TUMORS.

scientific article published on 21 April 2015

PNR-21FOUR NEW BRAIN TUMOR ENTITIES EMERGE FROM MOLECULAR CLASSIFICATION OF CNS PNETs

scientific article published on 30 May 2016

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge

scientific article published on February 2014

Paired box gene 8 (PAX8) expression is associated with sonic hedgehog (SHH)/wingless int (WNT) subtypes, desmoplastic histology and patient survival in human medulloblastomas

scientific article published in February 2015

Papillary Tumor of the Pineal Region: A Distinct Molecular Entity

scientific article

Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

scientific article published on 13 February 2019

Pattern of p53 protein expression is predictive for survival in chemoradiotherapy-naive esophageal adenocarcinoma.

scientific article published on 24 October 2017

Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management.

scientific article

Pediatric Low-Grade Gliomas: Next Biologically Driven Steps

scientific article published on 2 August 2017

Pediatric Targeted Therapy: Clinical Feasibility of Personalized Diagnostics in Children with Relapsed and Progressive Tumors

scientific article published on 7 October 2015

Pediatric high-grade glioma: biologically and clinically in need of new thinking

scientific article

Pediatric low-grade gliomas: implications of the biologic era.

scientific article published on 28 September 2016

Phase II study of sorafenib in children with recurrent or progressive low-grade astrocytomas.

scientific article

Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response

scientific article published on 13 February 2020

Pilocytic astrocytoma: pathology, molecular mechanisms and markers.

scientific article published on 20 March 2015

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway.

scientific article

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

scientific article published on 11 April 2016

Posterior fossa pilocytic astrocytomas with oligodendroglial features show frequent FGFR1 activation via fusion or mutation

scientific article published on 15 November 2019

Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.

scientific article

Primary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis

scientific article published on 01 November 2019

Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1

scientific article published on 16 January 2019

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.

scientific article

Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

scientific article published on 20 November 2020

Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort

scientific article

Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis

scientific article published on 11 March 2016

Pseudoprogression in children, adolescents and young adults with non-brainstem high grade glioma and diffuse intrinsic pontine glioma

scientific article

Quantification of telomere features in tumor tissue sections by an automated 3D imaging-based workflow

scientific article

RARE-10. MULTICENTER PILOT STUDY OF RADIO-CHEMOTHERAPY AS FIRST-LINE TREATMENT FOR ADULTS WITH MEDULLOBLASTOMA – THE NOA-07 TRIAL

Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B

scientific article published on 20 September 2021

Radiogenomics of Glioblastoma: Machine Learning-based Classification of Molecular Characteristics by Using Multiparametric and Multiregional MR Imaging Features

scientific article

Radiomic subtyping improves disease stratification beyond key molecular, clinical and standard imaging characteristics in patients with glioblastoma

scientific article published on 28 September 2017

Real-time quantitative polymerase chain reaction (qPCR) analysis with fluorescence resonance energy transfer (FRET) probes reveals differential expression of the four ERBB4 juxtamembrane region variants between medulloblastoma and pilocytic astrocyt

scientific article published on 12 November 2008

Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis

scientific article published on 17 October 2013

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma

scientific article published in Nature Communications

Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.

scientific article published on 18 June 2018

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

scientific article

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

scientific article

Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas

scientific article

Reply to 'Assembling the brain trust: the multidisciplinary imperative in neuro-oncology'

scientific article published on 01 August 2019

Response to trametinib treatment in progressive pediatric low-grade glioma patients

scientific article published on 07 October 2020

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial

scientific article published on 16 May 2018

Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays

scientific article published on 14 May 2013

Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1

scientific article published on 27 June 2019

Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions

scientific article published on 05 July 2019

Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations

scientific article

Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial

scientific article published on 28 May 2019

Signatures of mutational processes in human cancer

scientific article (publication date: 22 August 2013)

Somatic CRISPR/Cas9-mediated tumour suppressor disruption enables versatile brain tumour modelling

scientific article published on 11 June 2015

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas

scientific article

Spatial heterogeneity in medulloblastoma

scientific article published on 10 April 2017

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

scientific article

Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma

scientific article published on 08 July 2013

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

scientific article

Systematic identification of suspected anthelmintic benzimidazole metabolites using LC-MS/MS.

scientific article published on 28 December 2017

Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers

scientific article published on 27 March 2020

TB-27SUBGROUP-SPECIFIC OUTCOMES OF CHILDREN WITH MALIGNANT CHILDHOOD BRAIN TUMORS TREATED WITH AN IRRADIATION-SPARING PROTOCOL.

scientific article

TBIO-07. ASSESSING THE UTILITY OF DNA METHYLATION PROFILING IN BRAIN TUMOR DIAGNOSTICS—THE PROSPECTIVE MNP2.0 STUDY

TBIO-10. PEDIATRIC TARGETED THERAPY 2.0: DEVELOPMENT OF PERSONALIZED PEDIATRIC ONCOLOGY

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

scientific article published on 31 October 2013

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma.

scientific article published on 25 June 2016

TRTH-09. PTT2.0: DEVELOPING PERSONALIZED PEDIATRIC ONCOLOGY.

scientific article published on 31 May 2017

TUMOUR BIOLOGY

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas

scientific article

Telomere dysfunction and chromothripsis

scientific article published on 9 February 2016

TelomereHunter - in silico estimation of telomere content and composition from cancer genomes

scientific article published on 28 May 2019

The Power of Human Cancer Genetics as Revealed by Low-Grade Gliomas

scientific article published on 01 December 2019

The Senescence-associated Secretory Phenotype Mediates Oncogene-induced Senescence in Pediatric Pilocytic Astrocytoma

scientific article published on 07 December 2018

The case for DNA methylation based molecular profiling to improve diagnostic accuracy for central nervous system embryonal tumors (not otherwise specified) in adults

scientific article published on 6 October 2017

The landscape of genomic alterations across childhood cancers

scientific article published on 28 February 2018

The molecular landscape of ETMR at diagnosis and relapse

scientific article published on 04 December 2019

The role of chromatin remodeling in medulloblastoma.

scientific article published on March 2013

The whole-genome landscape of medulloblastoma subtypes

scientific article published in July 2017

Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis

scientific article published on 06 June 2016

Therapeutic targeting of ependymoma as informed by oncogenic enhancer profiling

scientific article published on 20 December 2017

Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker

scientific article published on 28 November 2019

Transcriptomic and epigenetic profiling of 'diffuse midline gliomas, H3 K27M-mutant' discriminate two subgroups based on the type of histone H3 mutated and not supratentorial or infratentorial location

scientific article published on 5 November 2018

Transitioning from genotypes to epigenotypes: why the time has come for medulloblastoma epigenomics

scientific article published on 20 July 2013

Treatment of Children and Adolescents With Metastatic Medulloblastoma and Prognostic Relevance of Clinical and Biologic Parameters

scientific article published on 31 October 2016

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

scientific article published on 28 October 2019

Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target

scientific article published on 14 March 2018

Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?

scientific article

Voxel-wise radiogenomic mapping of tumor location with key molecular alterations in patients with glioma

scientific article published on 01 October 2018

WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

scientific article

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

article published in 2014

YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis

scientific article published on 02 September 2019

YAP1-fusions in pediatric NF2-wildtype meningioma

scientific article published on 16 November 2019

cIMPACT-NOW update 4: diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAFV600E mutation

scientific article published on 08 March 2019

confFuse: High-Confidence Fusion Gene Detection across Tumor Entities.

scientific article published on 29 September 2017

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