Lista de obras -

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

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

scientific article published on 08 July 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report.

artículo científico publicado en 2018

Correction to: DNA methylation-based reclassification of olfactory neuroblastoma

artículo científico publicado en 2018

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

artículo científico publicado en 2019

DNA methylation profiling reliably distinguishes pulmonary enteric adenocarcinoma from metastatic colorectal cancer

artículo científico publicado en 2019

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

artículo científico publicado en 2017

DNA methylation-based classification of central nervous system tumours

artículo científico publicado en 2018

DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics

scientific article published on 25 November 2019

DNA methylation-based reclassification of olfactory neuroblastoma

artículo científico publicado en 2018

Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation.

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Distribution of EGFR amplification, combined chromosome 7 gain and chromosome 10 loss, and TERT promoter mutation in brain tumors and their potential for the reclassification of IDHwt astrocytoma to glioblastoma

scientific article published on 05 September 2018

Endometrial stromal sarcomas with BCOR-rearrangement harbor MDM2 amplifications

scientific article published on 30 April 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype

article published in 2019

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

Infratentorial IDH-mutant astrocytoma is a distinct subtype

artículo científico publicado en 2020

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

artículo científico publicado en 2019

MNGI-13. A DNA METHYLATION-BASED CLASSIFIER FOR ASSESSMENT OF RISK OF RECURRENCE IN MENINGIOMA

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

artículo científico publicado en 2017

Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

artículo científico publicado en 2020

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

scientific article published on 26 September 2020

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

scientific article published on 20 November 2020

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

T2/FLAIR-mismatch sign for noninvasive detection of IDH-mutant 1p/19q non-codeleted gliomas: validity and pathophysiology

artículo científico publicado en 2020

The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution

scientific article published on 21 September 2020

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

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

artículo científico publicado en 2019

YAP1-fusions in pediatric NF2-wildtype meningioma

artículo científico publicado en 2019

Lista de obras de

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

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

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

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

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

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

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

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

Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report.

Correction to: DNA methylation-based reclassification of olfactory neuroblastoma

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

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

DNA methylation profiling reliably distinguishes pulmonary enteric adenocarcinoma from metastatic colorectal cancer

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

DNA methylation-based classification of central nervous system tumours

DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics

DNA methylation-based reclassification of olfactory neuroblastoma

Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation.

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

Distribution of EGFR amplification, combined chromosome 7 gain and chromosome 10 loss, and TERT promoter mutation in brain tumors and their potential for the reclassification of IDHwt astrocytoma to glioblastoma

Endometrial stromal sarcomas with BCOR-rearrangement harbor MDM2 amplifications

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

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

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

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

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

Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype

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

Infratentorial IDH-mutant astrocytoma is a distinct subtype

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

MNGI-13. A DNA METHYLATION-BASED CLASSIFIER FOR ASSESSMENT OF RISK OF RECURRENCE IN MENINGIOMA

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

Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

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

Molecular progression of SHH-activated medulloblastomas

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

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

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

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

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

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

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

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

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

T2/FLAIR-mismatch sign for noninvasive detection of IDH-mutant 1p/19q non-codeleted gliomas: validity and pathophysiology

The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution

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

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

YAP1-fusions in pediatric NF2-wildtype meningioma