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List of works by Marco Marra

A Cancer Stem Cell Model for Studying Brain Metastases From Primary Lung Cancer ⬇️

scientific article published on February 15, 2013

A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.

scientific article published on 21 August 2017

A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases.

scientific article published in February 2018

A high-throughput protocol for isolating cell-free circulating tumor DNA from peripheral blood

scientific article published on 01 February 2019

A physical map of the highly heterozygous Populus genome: integration with the genome sequence and genetic map and analysis of haplotype variation

article

A physical map of the human genome

scientific article

A platform for oncogenomic reporting and interpretation

scientific article published on 09 February 2022

A somatic reference standard for cancer genome sequencing

scientific article

A time-and-motion approach to micro-costing of high-throughput genomic assays.

scientific article

ABT-888 restores sensitivity in temozolomide resistant glioma cells and xenografts

scientific article published in PLoS ONE

ADAR1 Activation Drives Leukemia Stem Cell Self-Renewal by Impairing Let-7 Biogenesis.

scientific article published on 7 June 2016

Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.

scientific article published on 25 November 2012

Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis

scientific article

Altered Gene Expression along the Glycolysis-Cholesterol Synthesis Axis Is Associated with Outcome in Pancreatic Cancer

scientific article published on 03 September 2019

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

scientific article published in June 2007

Analysis of FOXO1 mutations in diffuse large B-cell lymphoma

scientific article published on 4 March 2013

Analysis of Normal Human Mammary Epigenomes Reveals Cell-Specific Active Enhancer States and Associated Transcription Factor Networks

scientific article published in November 2016

Analysis of Ugandan cervical carcinomas identifies human papillomavirus clade-specific epigenome and transcriptome landscapes

scientific article published on 03 August 2020

Application of a Neural Network Whole Transcriptome-Based Pan-Cancer Method for Diagnosis of Primary and Metastatic Cancers

scientific article published on 05 April 2019

Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma.

scientific article published on 2 April 2018

Assessment of Capture and Amplicon-Based Approaches for the Development of a Targeted Next-Generation Sequencing Pipeline to Personalize Lymphoma Management.

scientific article published on 7 February 2018

Author Correction: Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution

scientific article published on 01 April 2020

Automated high throughput nucleic acid purification from formalin-fixed paraffin-embedded tissue samples for next generation sequence analysis. ⬇️

scientific article

BCL2 mutations in diffuse large B-cell lymphoma ⬇️

scientific article published on December 22, 2011

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis

scientific article published on 01 April 2019

CSF3R mutations have a high degree of overlap with CEBPA mutations in pediatric AML

scientific article published on 3 May 2016

Capicua regulates neural stem cell proliferation and lineage specification through control of Ets factors

scientific article published on 01 May 2019

Carcinoma ex pleomorphic adenoma: case report and options for systemic therapy

scientific article

Cell of origin of transformed follicular lymphoma

scientific article

Characterization of the human thyroid epigenome.

scientific article published on 14 August 2017

Childhood cerebellar tumours mirror conserved fetal transcriptional programs

scientific article published on 01 May 2019

Circos: an information aesthetic for comparative genomics

scientific article (publication date: September 2009)

Clinical impact of molecular features in diffuse large B-cell lymphoma and follicular lymphoma.

scientific article

Clinical outcomes after whole-genome sequencing in patients with metastatic non-small-cell lung cancer

scientific article published on 01 February 2019

Clonal expansion and epigenetic reprogramming following deletion or amplification of mutant IDH1.

scientific article published on 15 September 2017

Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development

scientific article published on 24 July 2015

Comparative transcriptome analysis of isogenic cell line models and primary cancers links capicua (CIC) loss to activation of the MAPK signalling cascade

scientific article

Comparison of medulloblastoma and normal neural transcriptomes identifies a restricted set of activated genes ⬇️

scientific article published on October 23, 2003

Complete genomic landscape of a recurring sporadic parathyroid carcinoma ⬇️

scientific article published on July 1, 2013

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

article

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive characterization of programmed death ligand structural rearrangements in B-cell non-Hodgkin lymphomas.

scientific article published on 7 June 2016

Comprehensive genomic profiling of glioblastoma tumors, BTICs, and xenografts reveals stability and adaptation to growth environments

scientific article published on 30 August 2019

Comprehensive miRNA sequence analysis reveals survival differences in diffuse large B-cell lymphoma patients

scientific article

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

scientific article

DNA methylation in adult diffuse gliomas

scientific article

De novo transcriptome assembly with ABySS.

scientific article

Delineation of a minimal region of deletion at 6q16.3 in follicular lymphoma and construction of a bacterial artificial chromosome contig spanning a 6-megabase region of 6q16-q21.

scientific article published in May 2004

Delving into Early Onset Pancreatic Ductal Adenocarcinoma: How Does Age Fit In?

scientific article published on 21 September 2020

Detection and genomic characterization of a mammary-like adenocarcinoma.

scientific article published on 6 September 2017

Divergent clonal selection dominates medulloblastoma at recurrence

scientific article published on 13 January 2016

Divergent modes of clonal spread and intraperitoneal mixing in high-grade serous ovarian cancer

scientific article published on 16 May 2016

Double-Hit Gene Expression Signature Defines a Distinct Subgroup of Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma

scientific article published on 03 December 2018

Dynamics of genomic clones in breast cancer patient xenografts at single-cell resolution.

scientific article published on 26 November 2014

ETV6-NTRK3 Is Expressed in a Subset of ALK-Negative Inflammatory Myofibroblastic Tumors.

scientific article

Endogenous retrovirus transcript levels are associated with immunogenic signatures in multiple metastatic cancer types

scientific article published on 09 June 2020

Epigenetic and transcriptional determinants of the human breast

scientific article

Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology

scientific article published on 29 May 2020

Evaluation of protocols for rRNA depletion-based RNA sequencing of nanogram inputs of mammalian total RNA

scientific article published on 31 October 2019

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma

scientific article

Functional genomics of the cilium, a sensory organelle

scientific journal article

Generation and annotation of the DNA sequences of human chromosomes 2 and 4

scientific article

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

scientific article

Genetic profiling of MYC and BCL2 in diffuse large B-cell lymphoma determines cell-of-origin-specific clinical impact.

scientific article published on 28 March 2017

Genome and transcriptome biomarkers of response to immune checkpoint inhibitors in advanced solid tumours

scientific article published on 05 October 2020

Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences

scientific article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways.

scientific article published on March 2016

Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma

scientific article published on 07 January 2019

Genome-wide discovery of somatic coding and regulatory variants in Diffuse Large B-cell Lymphoma

Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes

scientific article published on 24 April 2017

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

scientific article published on 16 May 2017

Glioma-derived IL-33 orchestrates an inflammatory brain tumor microenvironment that accelerates glioma progression

scientific article published on 05 October 2020

High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity and copy number alterations that target single genes

article

High-resolution architecture and partner genes of rearrangements in lymphoma with DLBCL morphology

article

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

scientific article published on 27 June 2019

Histological Transformation and Progression in Follicular Lymphoma: A Clonal Evolution Study

scientific article

Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration

scientific article published on 07 November 2019

Identification of GPC2 as an Oncoprotein and Candidate Immunotherapeutic Target in High-Risk Neuroblastoma.

scientific article published in September 2017

Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics

scientific article

Increasing quality, throughput and speed of sample preparation for strand-specific messenger RNA sequencing

scientific article

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Integrated genomics elucidates relative spatial homogeneity of embryonal brain tumors.

scientific article

Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma

scientific article published on 10 July 2019

Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma

scientific article published on 28 August 2019

Intermediate DNA methylation is a conserved signature of genome regulation

scientific article

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma

scientific article published on 15 March 2019

Investigation of PD-L1 Biomarker Testing Methods for PD-1 Axis Inhibition in Non-squamous Non-small Cell Lung Cancer

scientific article

Large-scale profiling of microRNAs for The Cancer Genome Atlas.

scientific article published on 13 August 2015

MB-21INTEGRATED GENOMICS ELUCIDATES RELATIVE SPATIAL HOMOGENEITY OF EMBRYONAL BRAIN TUMORS.

scientific article published on 21 April 2015

MEF2 transcription factors: developmental regulators and emerging cancer genes

scientific article

MEF2B mutations in non-Hodgkin lymphoma dysregulate cell migration by decreasing MEF2B target gene activation

scientific article published on 06 August 2015

MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma

scientific article

MHC class II transactivator CIITA is a recurrent gene fusion partner in lymphoid cancers

scientific article

MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.

scientific article

Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress

scientific article published on 05 April 2016

Molecular and Genetic Characterization of MHC Deficiency Identifies EZH2 as Therapeutic Target for Enhancing Immune Recognition

scientific article published on 31 January 2019

Molecular characterisation of metastatic pancreatic neuroendocrine tumours (PNETs) using whole genome and transcriptome sequencing.

scientific article published in November 2017

Molecular characterization of ERBB2-amplified colorectal cancer identifies potential mechanisms of resistance to targeted therapies: A report of two instructive cases

scientific article published on 8 February 2018

Multifocal endometriotic lesions associated with cancer are clonal and carry a high mutation burden.

scientific article

Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing

scientific article published on 22 May 2013

NRG1 Gene Fusions Are Recurrent, Clinically Actionable Gene Rearrangements in KRAS Wild-Type Pancreatic Ductal Adenocarcinoma

scientific article published on 08 May 2019

Next-Generation Sequencing Approaches in Cancer: Where Have They Brought Us and Where Will They Take Us?

scientific article

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma

scientific article published on 9 March 2018

Personalized oncogenomics in the management of gastrointestinal carcinomas-early experiences from a pilot study.

scientific article published on 21 December 2016

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

scientific article

Physical map-assisted whole-genome shotgun sequence assemblies

scientific article

Poly‐gene fusion transcripts and chromothripsis in prostate cancer ⬇️

scientific article published on August 25, 2012

Precursor States of Brain Tumor Initiating Cell Lines Are Predictive of Survival in Xenografts and Associated with Glioblastoma Subtypes

scientific article

Putative BRAF activating fusion in a medullary thyroid cancer.

scientific article

Pyruvate Kinase Inhibits Proliferation during Postnatal Cerebellar Neurogenesis and Suppresses Medulloblastoma Formation.

scientific article published on 17 May 2017

Quiescent sox2(+) cells drive hierarchical growth and relapse in sonic hedgehog subgroup medulloblastoma

scientific article published on 19 June 2014

Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

scientific article published on 6 November 2011

Recurrent genomic rearrangements in primary testicular lymphoma.

scientific article published on 26 March 2015

Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma

scientific article

Recurrent targets of aberrant somatic hypermutation in lymphoma

scientific article

Representation of cloned genomic sequences in two sequencing vectors: correlation of DNA sequence and subclone distribution ⬇️

scientific article published on August 1, 1997

Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

scientific article published on 18 February 2016

Reversion to an embryonic alternative splicing program enhances leukemia stem cell self-renewal

scientific article

SOX9 modulates the expression of key transcription factors required for heart valve development.

scientific article published on 2 November 2015

Sequencing Strategies to Guide Decision Making in Cancer Treatment.

scientific article

Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling

scientific article published on 3 May 2006

Significance of TP53 Mutation in Wilms Tumors with Diffuse Anaplasia: A Report from the Children's Oncology Group.

scientific article

Small molecule epigenetic screen identifies novel EZH2 and HDAC inhibitors that target glioblastoma brain tumor-initiating cells.

scientific article published on 18 July 2016

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

scientific article

Sources of erroneous sequences and artifact chimeric reads in next generation sequencing of genomic DNA from formalin-fixed paraffin-embedded samples.

scientific article published in January 2019

Spatial heterogeneity in medulloblastoma

scientific article published on 10 April 2017

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

scientific article

Subgroup-specific alternative splicing in medulloblastoma

scientific article

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

scientific article

Subtype-discordant pancreatic ductal adenocarcinoma tumors show intermediate clinical and molecular characteristics

scientific article published on 13 October 2020

Successful targeting of the NRG1 pathway indicates novel treatment strategy for metastatic cancer.

scientific article published on 18 September 2017

TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma

scientific article

TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma

scientific article published on 24 February 2020

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

The DNA sequence of human chromosome 7

scientific article

The Drosophila TIPE family member Sigmar interacts with the Ste20-like kinase Misshapen and modulates JNK signaling, cytoskeletal remodeling and autophagy

scientific article published on 2 April 2015

The E3 ubiquitin ligase UBR5 is recurrently mutated in mantle cell lymphoma.

scientific article published on 13 February 2013

The Genome of the Beluga Whale (Delphinapterus leucas).

scientific article published on 11 December 2017

The Genome of the Northern Sea Otter (Enhydra lutris kenyoni).

scientific article published on 11 December 2017

The Genome of the Steller Sea Lion (Eumetopias jubatus)

scientific article published on 26 June 2019

The Release 6 reference sequence of the Drosophila melanogaster genome.

scientific article

The completion of the Mammalian Gene Collection (MGC).

scientific article published on 18 September 2009

The cost and cost trajectory of whole-genome analysis guiding treatment of patients with advanced cancers.

scientific article published on 12 March 2017

The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans

scientific article

The genome of the kinetoplastid parasite, Leishmania major

scientific article

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics

scientific article published in November 2003

The genomic and transcriptomic landscape of anaplastic thyroid cancer: implications for therapy.

scientific article published on 18 December 2015

The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions.

scientific article published on 11 December 2017

The pivotal role of sampling recurrent tumors in the precision care of patients with tumors of the central nervous system

scientific article published on 01 August 2019

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)

scientific article

The transcriptional landscape of Shh medulloblastoma

scientific article published on 19 March 2021

The whole-genome landscape of medulloblastoma subtypes

scientific article published in July 2017

Toward Personalized Lymphoma Immunotherapy: Identification of Common Driver Mutations Recognized by Patient CD8+ T Cells

scientific article published on 02 December 2015

Tracking of Normal and Malignant Progenitor Cell Cycle Transit in a Defined Niche.

scientific article

Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution

scientific article published on 13 January 2020

Transcriptomic analysis of CIC and ATXN1L reveal a functional relationship exploited by cancer

scientific article published on 09 August 2018

Tumor necrosis factor overcomes immune evasion in p53-mutant medulloblastoma

scientific article published on 18 May 2020

Tumour-suppressor microRNAs regulate ovarian cancer cell physical properties and invasive behaviour.

scientific article

Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers

scientific article published on 04 November 2020

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.

scientific article

Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma.

scientific article

Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia.

scientific article published on 7 June 2017

Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma

scientific article published on 17 December 2018

Whole-slide laser microdissection for tumour enrichment

scientific article published on 02 November 2020

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