Lista de obras - Daniel Schrimpf - Dominio Público Uruguay

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.

artículo científico publicado en 2017

AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.

artículo científico publicado en 2016

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

Adaptive randomization procedures for the web-based randomization system RANDI2

artículo científico publicado el 1 de enero de 2012

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

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

Correction to: DNA methylation-based reclassification of olfactory neuroblastoma

artículo científico publicado en 2018

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

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

Design of clinical studies: Adaptive randomization and progression-free survival (PFS) as an endpoint in clinical studies of advanced non-small cell lung cancer (NSCLC)

artículo científico publicado el 1 de enero de 2013

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

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

article published in 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Heterogeneity of response to immune checkpoint blockade in hypermutated experimental gliomas

scientific article published on 18 February 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

Infratentorial IDH-mutant astrocytoma is a distinct subtype

artículo científico publicado en 2020

Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling

artículo científico publicado en 2018

Integrated analysis of dynamic FET PET/CT parameters, histology, and methylation profiling of 44 gliomas.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Integrated molecular analysis of adult sonic hedgehog (SHH)-activated medulloblastomas reveals two clinically relevant tumor subsets with VEGFA as potent prognostic indicator

artículo científico publicado en 2021

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

MB-26SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA AND GORLIN SYNDROME IN THE SETTING OF DOWN SYNDROME: CASE REPORT WITH MOLECULAR PROFILING.

artículo científico publicado en 2016

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

Malignant Transformation of a Dysembryoplastic Neuroepithelial Tumor (DNET) Characterized by Genome-Wide Methylation Analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2021

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

artículo científico publicado en 2018

Molecular progression of SHH-activated medulloblastomas

scientific article published on 27 April 2019

Mutational landscape of primary and recurrent glioblastoma reveals potentially actionable SNVs including WNT pathway variation

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

Pan-mutant IDH1 inhibitor BAY 1436032 for effective treatment of IDH1 mutant astrocytoma in vivo

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

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

SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature

artículo científico publicado en 2016

Sarcoma classification by DNA methylation profiling

artículo científico publicado en 2021

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.

artículo científico publicado en 2016

Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate

scientific article published on 09 July 2018

Synchronous pituitary adenoma and pituicytoma

artículo científico publicado en 2015

TERT Promoter Mutations and Risk of Recurrence in Meningioma

artículo científico publicado en 2015

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 Daniel Schrimpf

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

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

AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.

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

Adaptive randomization procedures for the web-based randomization system RANDI2

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

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

Correction to: DNA methylation-based reclassification of olfactory neuroblastoma

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

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

Design of clinical studies: Adaptive randomization and progression-free survival (PFS) as an endpoint in clinical studies of advanced non-small cell lung cancer (NSCLC)

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

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

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

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

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

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

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

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

Heterogeneity of response to immune checkpoint blockade in hypermutated experimental gliomas

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

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

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

Infratentorial IDH-mutant astrocytoma is a distinct subtype

Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling

Integrated analysis of dynamic FET PET/CT parameters, histology, and methylation profiling of 44 gliomas.

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

Integrated molecular analysis of adult sonic hedgehog (SHH)-activated medulloblastomas reveals two clinically relevant tumor subsets with VEGFA as potent prognostic indicator

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

MB-26SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA AND GORLIN SYNDROME IN THE SETTING OF DOWN SYNDROME: CASE REPORT WITH MOLECULAR PROFILING.

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

Malignant Transformation of a Dysembryoplastic Neuroepithelial Tumor (DNET) Characterized by Genome-Wide Methylation Analysis

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

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

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

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

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

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

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

Molecular progression of SHH-activated medulloblastomas

Mutational landscape of primary and recurrent glioblastoma reveals potentially actionable SNVs including WNT pathway variation

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

Pan-mutant IDH1 inhibitor BAY 1436032 for effective treatment of IDH1 mutant astrocytoma in vivo

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

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

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

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

SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature

Sarcoma classification by DNA methylation profiling

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.

Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate

Synchronous pituitary adenoma and pituicytoma

TERT Promoter Mutations and Risk of Recurrence in Meningioma

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