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

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2019

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

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

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO.

artículo científico publicado en 2015

Identification of T cell target antigens in glioblastoma stem-like cells using an integrated proteomics-based approach in patient specimens

artículo científico publicado en 2017

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

Loss of histone H3K27me3 identifies a subset of meningiomas with increased risk of recurrence

artículo científico publicado en 2018

MYCN amplification drives an aggressive form of spinal ependymoma

scientific article published on 14 August 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

artículo científico publicado en 2021

Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology.

artículo científico publicado en 2010

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

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

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

artículo científico publicado en 2021

Rapid detection of 2-hydroxyglutarate in frozen sections of IDH mutant tumors by MALDI-TOF mass spectrometry.

artículo científico publicado en 2018

Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

artículo científico publicado en 2021

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

Sarcoma classification by DNA methylation profiling

artículo científico publicado en 2021

Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations

artículo científico publicado en 2013

TERT Promoter Mutations and Risk of Recurrence in Meningioma

artículo científico publicado en 2015

Transcriptomic analysis of aggressive meningiomas identifies PTTG1 and LEPR as prognostic biomarkers independent of WHO grade

artículo científico publicado en 2016

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

artículo científico publicado en 2019

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

article published in 2014

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

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

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

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

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

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

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

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

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

DNA methylation-based classification of central nervous system tumours

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

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

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

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

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

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

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

IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO.

Identification of T cell target antigens in glioblastoma stem-like cells using an integrated proteomics-based approach in patient specimens

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

Loss of histone H3K27me3 identifies a subset of meningiomas with increased risk of recurrence

MYCN amplification drives an aggressive form of spinal ependymoma

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

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

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

Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology.

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

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

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

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

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

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

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

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

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

Rapid detection of 2-hydroxyglutarate in frozen sections of IDH mutant tumors by MALDI-TOF mass spectrometry.

Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

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

Sarcoma classification by DNA methylation profiling

Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations

TERT Promoter Mutations and Risk of Recurrence in Meningioma

Transcriptomic analysis of aggressive meningiomas identifies PTTG1 and LEPR as prognostic biomarkers independent of WHO grade

Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

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

YAP1-fusions in pediatric NF2-wildtype meningioma