Lista de obras - Matthias Schlesner - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

artículo científico publicado en 2017

A report of whole-genome sequencing in neurologic Wilson's disease

artículo científico publicado en 2017

Aggressive PDACs show hypomethylation of repetitive elements and the execution of an intrinsic IFN program linked to a ductal cell-of-origin

scientific article published on 15 October 2020

Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis

artículo científico publicado en 2016

Analysis of mutational signatures in exomes from B-cell lymphoma cell lines suggest APOBEC3 family members to be involved in the pathogenesis of primary effusion lymphoma.

artículo científico publicado en 2015

Author Correction: The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

Complex heatmaps reveal patterns and correlations in multidimensional genomic data.

artículo científico publicado en 2016

Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of "MYC-negative" Burkitt lymphoma

scientific article published on 09 May 2019

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

artículo científico publicado en 2018

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

artículo científico publicado en 2017

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

scientific article published on 09 April 2019

Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole exome sequencing.

artículo científico publicado en 2017

Dissecting intratumour heterogeneity of nodal B-cell lymphomas at the transcriptional, genetic and drug-response levels

artículo científico publicado en 2020

Distributed Ledger Technology in genomics: a call for Europe

scientific article published on 16 September 2019

EnrichedHeatmap: an R/Bioconductor package for comprehensive visualization of genomic signal associations.

artículo científico publicado en 2018

Erratum: Corrigendum: Signatures of mutational processes in human cancer

artículo científico publicado en 2013

Evaluation of Whole Genome Sequencing Data

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

artículo científico publicado en 2016

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

artículo científico publicado en 2018

Framework for quality assessment of whole genome cancer sequences

artículo científico publicado en 2020

GENE-13. PEDIATRIC MENINGIOMAS ARE CHARACTERIZED BY DISTINCT METHYLATION PROFILES DIFFERENT FROM ADULT MENINGIOMAS

artículo científico publicado en 2019

Genetic Interactions and Tissue Specificity Modulate the Association of Mutations with Drug Response

scientific article published on 11 December 2019

Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.

artículo científico publicado en 2017

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

artículo científico publicado en 2019

Genomic features of renal cell carcinoma with venous tumor thrombus.

artículo científico publicado en 2018

Genomic footprints of activated telomere maintenance mechanisms in cancer

artículo científico publicado en 2020

Globally altered epigenetic landscape and delayed osteogenic differentiation in H3.3-G34W-mutant giant cell tumor of bone

scientific article published on 27 October 2020

HilbertCurve: an R/Bioconductor package for high-resolution visualization of genomic data

artículo científico publicado en 2016

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

article

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

artículo científico publicado en 2013

Hypermutation takes the driver's seat

artículo científico publicado en 2015

IG--positive neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas

artículo científico publicado en 2018

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

artículo científico publicado en 2017

Identification of immunotherapeutic targets by genomic profiling of rectal NET metastases.

artículo científico publicado en 2016

Immunohistochemical detection of inhibitor of DNA binding 3 mutational variants in mature aggressive B-cell lymphoma.

artículo científico publicado en 2016

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

artículo científico publicado en 2017

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

artículo científico publicado en 2018

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

artículo científico publicado en 2015

MYC/MIZ1-dependent gene repression inversely coordinates the circadian clock with cell cycle and proliferation.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories

artículo científico publicado en 2018

Mutant KIT as imatinib-sensitive target in metastatic sinonasal carcinoma.

artículo científico publicado en 2016

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

artículo científico publicado en 2019

NFM-11. PEDIATRIC MENINGIOMAS ARE MOLECULARLY DISTINCT FROM ADULT COUNTERPARTS

article published in 2018

NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis

artículo científico publicado en 2020

NRG1 Fusions in KRAS Wild-type Pancreatic Cancer.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

PDTM-38. PEDIATRIC MENINGIOMAS ARE CHARACTERIZED BY DISTINCT METHYLATION PROFILES DIFFERENT FROM ADULT MENINGIOMAS

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

artículo científico publicado en 2017

Pheno-seq - linking visual features and gene expression in 3D cell culture systems

scientific article published on 26 August 2019

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease

artículo científico publicado en 2021

RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia.

artículo científico publicado en 2017

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

artículo científico publicado en 2012

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

artículo científico publicado en 2013

RecurrentRHOAmutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols

article

Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.

artículo científico publicado en 2019

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

artículo científico publicado en 2015

Screening drug effects in patient-derived cancer cells links organoid responses to genome alterations.

artículo científico publicado en 2017

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

artículo científico publicado en 2019

ShinyButchR: Interactive NMF-based decomposition workflow of genome-scale datasets

artículo científico publicado en 2020

Spatial niche formation but not malignant progression is a driving force for intratumoural heterogeneity

artículo científico publicado en 2016

Structure of the archaeal chemotaxis protein CheY in a domain-swapped dimeric conformation

artículo científico publicado en 2019

TB-17A COMPREHENSIVE PAN-CANCER ANALYSIS OF CHILDHOOD MALIGNANCIES.

artículo científico publicado en 2016

The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

article

The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.

artículo científico publicado en 2014

The protein interaction network of a taxis signal transduction system in a halophilic archaeon

artículo científico publicado en 2012

The transcriptomic and epigenetic map of vascular quiescence in the continuous lung endothelium.

artículo científico publicado en 2018

The whole-genome landscape of medulloblastoma subtypes

artículo científico publicado en 2017

Timed Ang2-targeted therapy identifies the Angiopoietin-Tie pathway as key regulator of fatal lymphogenous metastasis

artículo científico publicado en 2020

What do we learn from high-throughput protein interaction data?

artículo científico publicado en 2004

Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer

artículo científico publicado en 2018

Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma

article

YAP1-fusions in pediatric NF2-wildtype meningioma

artículo científico publicado en 2019

gtrellis: an R/Bioconductor package for making genome-level Trellis graphics.

artículo científico publicado en 2016

Lista de obras de Matthias Schlesner

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

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

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

A report of whole-genome sequencing in neurologic Wilson's disease

Aggressive PDACs show hypomethylation of repetitive elements and the execution of an intrinsic IFN program linked to a ductal cell-of-origin

Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis

Analysis of mutational signatures in exomes from B-cell lymphoma cell lines suggest APOBEC3 family members to be involved in the pathogenesis of primary effusion lymphoma.

Author Correction: The landscape of genomic alterations across childhood cancers

Complex heatmaps reveal patterns and correlations in multidimensional genomic data.

Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of "MYC-negative" Burkitt lymphoma

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole exome sequencing.

Dissecting intratumour heterogeneity of nodal B-cell lymphomas at the transcriptional, genetic and drug-response levels

Distributed Ledger Technology in genomics: a call for Europe

EnrichedHeatmap: an R/Bioconductor package for comprehensive visualization of genomic signal associations.

Erratum: Corrigendum: Signatures of mutational processes in human cancer

Evaluation of Whole Genome Sequencing Data

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

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

Framework for quality assessment of whole genome cancer sequences

GENE-13. PEDIATRIC MENINGIOMAS ARE CHARACTERIZED BY DISTINCT METHYLATION PROFILES DIFFERENT FROM ADULT MENINGIOMAS

Genetic Interactions and Tissue Specificity Modulate the Association of Mutations with Drug Response

Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

Genomic features of renal cell carcinoma with venous tumor thrombus.

Genomic footprints of activated telomere maintenance mechanisms in cancer

Globally altered epigenetic landscape and delayed osteogenic differentiation in H3.3-G34W-mutant giant cell tumor of bone

HilbertCurve: an R/Bioconductor package for high-resolution visualization of genomic data

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

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

Hypermutation takes the driver's seat

IG--positive neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Identification of immunotherapeutic targets by genomic profiling of rectal NET metastases.

Immunohistochemical detection of inhibitor of DNA binding 3 mutational variants in mature aggressive B-cell lymphoma.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

MYC/MIZ1-dependent gene repression inversely coordinates the circadian clock with cell cycle and proliferation.

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

Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories

Mutant KIT as imatinib-sensitive target in metastatic sinonasal carcinoma.

Mutational patterns and regulatory networks in epigenetic subgroups of meningioma

NFM-11. PEDIATRIC MENINGIOMAS ARE MOLECULARLY DISTINCT FROM ADULT COUNTERPARTS

NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis

NRG1 Fusions in KRAS Wild-type Pancreatic Cancer.

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

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

PDTM-38. PEDIATRIC MENINGIOMAS ARE CHARACTERIZED BY DISTINCT METHYLATION PROFILES DIFFERENT FROM ADULT MENINGIOMAS

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Pheno-seq - linking visual features and gene expression in 3D cell culture systems

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease

RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia.

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

RecurrentRHOAmutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols

Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Screening drug effects in patient-derived cancer cells links organoid responses to genome alterations.

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

ShinyButchR: Interactive NMF-based decomposition workflow of genome-scale datasets

Spatial niche formation but not malignant progression is a driving force for intratumoural heterogeneity

Structure of the archaeal chemotaxis protein CheY in a domain-swapped dimeric conformation

TB-17A COMPREHENSIVE PAN-CANCER ANALYSIS OF CHILDHOOD MALIGNANCIES.

The landscape of genomic alterations across childhood cancers

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.

The protein interaction network of a taxis signal transduction system in a halophilic archaeon

The transcriptomic and epigenetic map of vascular quiescence in the continuous lung endothelium.

The whole-genome landscape of medulloblastoma subtypes

Timed Ang2-targeted therapy identifies the Angiopoietin-Tie pathway as key regulator of fatal lymphogenous metastasis

What do we learn from high-throughput protein interaction data?

Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer

Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma

YAP1-fusions in pediatric NF2-wildtype meningioma

gtrellis: an R/Bioconductor package for making genome-level Trellis graphics.