Lista de obras -

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

artículo científico publicado en 2015

A mathematical model of the metastatic bottleneck predicts patient outcome and response to cancer treatment

scientific article published on 02 October 2020

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis

artículo científico publicado en 2013

A novel, diffusely infiltrative xenograft model of human anaplastic oligodendroglioma with mutations in FUBP1, CIC, and IDH1.

artículo científico publicado en 2013

A stochastic model of metastatic bottleneck predicts patient outcome and therapy response

AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion

artículo científico publicado en 2020

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.

artículo científico publicado en 2016

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

artículo científico publicado en 2016

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

artículo científico publicado en 2018

Autoregressive higher-order hidden Markov models: exploiting local chromosomal dependencies in the analysis of tumor expression profiles

artículo científico publicado en 2014

CASP9 germline mutation in a family with multiple brain tumors

artículo científico publicado en 2016

CSIG-37. TGF-β PROMOTES MEMBRANE TUBE FORMATION IN GLIOBLASTOMA THAT CONTRIBUTES TO INVASION AND THERAPY RESISTANCE

Cell adhesion heterogeneity reinforces tumour cell dissemination: novel insights from a mathematical model

artículo científico publicado en 2017

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

artículo científico publicado en 2017

Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells

artículo científico publicado en 2017

Comparative analysis of histologically classified oligodendrogliomas reveals characteristic molecular differences between subgroups

artículo científico publicado en 2018

Comparative transcriptomics reveals similarities and differences between astrocytoma grades

artículo científico publicado en 2015

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

artículo científico publicado en 2017

Controlling distinct signaling states in cultured cancer cells provides a new platform for drug discovery

artículo científico publicado en 2019

Cordectomy as final treatment option for diffuse intramedullary malignant glioma using 5-ALA fluorescence-guided resection

artículo científico publicado en 2010

Correction: A Novel, Diffusely Infiltrative Xenograft Model of Human Anaplastic Oligodendroglioma with Mutations in FUBP1, CIC, and IDH1.

artículo científico publicado en 2013

Correction: Diagnostic value of partial exome sequencing in developmental disorders

scientific article published on 24 September 2020

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes

scientific article published on 04 June 2019

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

scientific article published on 09 April 2019

Diagnostic value of partial exome sequencing in developmental disorders

artículo científico publicado en 2018

Different Effects of RNAi-Mediated Downregulation or Chemical Inhibition of NAMPT in an Isogenic IDH Mutant and Wild-Type Glioma Cell Model

artículo científico publicado en 2022

Diffuse leptomeningeal astrocytoma in a patient with infantile epilepsy.

artículo científico publicado en 2009

Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas

artículo científico publicado en 2015

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

artículo científico publicado en 2015

Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease.

artículo científico publicado en 2018

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

artículo científico publicado en 2012

Glioblastomas with oligodendroglial component - common origin of the different histological parts and genetic subclassification ⬇️

artículo científico publicado el 1 de enero de 2010

Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification ⬇️

artículo científico publicado el 3 de mayo de 2011

HBOC multi-gene panel testing: comparison of two sequencing centers

artículo científico publicado en 2015

Human gastric cancer modelling using organoids

artículo científico publicado en 2018

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

artículo científico publicado en 2016

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

artículo científico publicado en 2018

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

artículo científico publicado en 2016

Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy

artículo científico publicado en 2018

Janus face-like effects of Aurora B inhibition: antitumoral mode of action versus induction of aneuploid progeny

artículo científico publicado en 2016

Long-term survival with glioblastoma multiforme

artículo científico publicado en 2007

Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing

artículo científico publicado en 2017

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

scientific article published on 27 July 2018

Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas

artículo científico publicado en 2020

Model-Based Evaluation of Spontaneous Tumor Regression in Pilocytic Astrocytoma

artículo científico publicado en 2015

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs

artículo científico publicado en 2020

Mutant IDH1 Differently Affects Redox State and Metabolism in Glial Cells of Normal and Tumor Origin

artículo científico publicado en 2019

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

artículo científico publicado en 2016

NRG1 Fusions in KRAS Wild-type Pancreatic Cancer.

artículo científico publicado en 2018

Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.

artículo científico publicado en 2018

Network-based analysis of prostate cancer cell lines reveals novel marker gene candidates associated with radioresistance and patient relapse

scientific article published on 04 November 2019

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

artículo científico publicado en 2017

Nivolumab maintenance after salvage autologous stem cell transplantation results in long term remission in multiple relapsed primary cns lymphoma.

artículo científico publicado en 2018

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

artículo científico publicado en 2013

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

scientific article published on 11 June 2019

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

artículo científico publicado en 2012

Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology

scientific article published on 03 October 2020

Patterns of Tumor Progression Predict Small and Tissue-Specific Tumor-Originating Niches

Pericytes/vessel-associated mural cells (VAMCs) are the major source of key epithelial-mesenchymal transition (EMT) factors SLUG and TWIST in human glioma.

artículo científico publicado en 2018

Precision oncology based on omics data: The NCT Heidelberg experience

artículo científico publicado en 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Side population in human glioblastoma is non-tumorigenic and characterizes brain endothelial cells

artículo científico publicado en 2013

Survivin safeguards chromosome numbers and protects from aneuploidy independently from p53

artículo científico publicado en 2014

Synergistic Highly Potent Targeted Drug Combinations in Different Pheochromocytoma Models Including Human Tumor Cultures

scientific article published on 01 November 2019

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

article

The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity

artículo científico publicado en 2019

The conjugated antimetabolite 5-FdU-ECyd and its cellular and molecular effects on platinum-sensitive vs. -resistant ovarian cancer cells in vitro

artículo científico publicado en 2017

The contribution of homology arms to nuclease-assisted genome engineering.

artículo científico publicado en 2017

The histone demethylase UTX regulates stem cell migration and hematopoiesis

artículo científico publicado en 2013

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

scientific article published in Nature Communications

Whole exome sequencing identifies mTOR and KEAP1 as potential targets for radiosensitization of HNSCC cells refractory to EGFR and β1 integrin inhibition

artículo científico publicado en 2018

Lista de obras de

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

A mathematical model of the metastatic bottleneck predicts patient outcome and response to cancer treatment

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis

A novel, diffusely infiltrative xenograft model of human anaplastic oligodendroglioma with mutations in FUBP1, CIC, and IDH1.

A stochastic model of metastatic bottleneck predicts patient outcome and therapy response

AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Autoregressive higher-order hidden Markov models: exploiting local chromosomal dependencies in the analysis of tumor expression profiles

CASP9 germline mutation in a family with multiple brain tumors

CSIG-37. TGF-β PROMOTES MEMBRANE TUBE FORMATION IN GLIOBLASTOMA THAT CONTRIBUTES TO INVASION AND THERAPY RESISTANCE

Cell adhesion heterogeneity reinforces tumour cell dissemination: novel insights from a mathematical model

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells

Comparative analysis of histologically classified oligodendrogliomas reveals characteristic molecular differences between subgroups

Comparative transcriptomics reveals similarities and differences between astrocytoma grades

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

Controlling distinct signaling states in cultured cancer cells provides a new platform for drug discovery

Cordectomy as final treatment option for diffuse intramedullary malignant glioma using 5-ALA fluorescence-guided resection

Correction: A Novel, Diffusely Infiltrative Xenograft Model of Human Anaplastic Oligodendroglioma with Mutations in FUBP1, CIC, and IDH1.

Correction: Diagnostic value of partial exome sequencing in developmental disorders

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

Diagnostic value of partial exome sequencing in developmental disorders

Different Effects of RNAi-Mediated Downregulation or Chemical Inhibition of NAMPT in an Isogenic IDH Mutant and Wild-Type Glioma Cell Model

Diffuse leptomeningeal astrocytoma in a patient with infantile epilepsy.

Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease.

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

Glioblastomas with oligodendroglial component - common origin of the different histological parts and genetic subclassification ⬇️

Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification ⬇️

HBOC multi-gene panel testing: comparison of two sequencing centers

Human gastric cancer modelling using organoids

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy

Janus face-like effects of Aurora B inhibition: antitumoral mode of action versus induction of aneuploid progeny

Long-term survival with glioblastoma multiforme

Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas

Model-Based Evaluation of Spontaneous Tumor Regression in Pilocytic Astrocytoma

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs

Mutant IDH1 Differently Affects Redox State and Metabolism in Glial Cells of Normal and Tumor Origin

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

NRG1 Fusions in KRAS Wild-type Pancreatic Cancer.

Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.

Network-based analysis of prostate cancer cell lines reveals novel marker gene candidates associated with radioresistance and patient relapse

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

Nivolumab maintenance after salvage autologous stem cell transplantation results in long term remission in multiple relapsed primary cns lymphoma.

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology

Patterns of Tumor Progression Predict Small and Tissue-Specific Tumor-Originating Niches

Pericytes/vessel-associated mural cells (VAMCs) are the major source of key epithelial-mesenchymal transition (EMT) factors SLUG and TWIST in human glioma.

Precision oncology based on omics data: The NCT Heidelberg experience

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

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

Side population in human glioblastoma is non-tumorigenic and characterizes brain endothelial cells

Survivin safeguards chromosome numbers and protects from aneuploidy independently from p53

Synergistic Highly Potent Targeted Drug Combinations in Different Pheochromocytoma Models Including Human Tumor Cultures

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity

The conjugated antimetabolite 5-FdU-ECyd and its cellular and molecular effects on platinum-sensitive vs. -resistant ovarian cancer cells in vitro

The contribution of homology arms to nuclease-assisted genome engineering.

The histone demethylase UTX regulates stem cell migration and hematopoiesis

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Whole exome sequencing identifies mTOR and KEAP1 as potential targets for radiosensitization of HNSCC cells refractory to EGFR and β1 integrin inhibition