Search filters

List of works by Andrew Mungall

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

scientific article published on 21 August 2017

A Gene Map of the Human Genome

scientific article

A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases

scientific article published on 31 May 2018

A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases.

scientific article published in February 2018

A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.

scientific article

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

scientific article published on 11 August 2008

A somatic reference standard for cancer genome sequencing

scientific article

A transgenic mouse model demonstrating the oncogenic role of mutations in the polycomb-group gene EZH2 in lymphomagenesis

article

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

scientific article published on 03 September 2019

Alternative splicing, genomic structure, and fine chromosome localization of REV3L.

scientific article

An exon splice enhancer primes IGF2:IGF2R binding site structure and function evolution

scientific article

An imprinted locus associated with transient neonatal diabetes mellitus

article

An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin

scientific article published in March 2000

An opportune moment to sequence an opportunistic pathogen

scientific article published on 01 November 2000

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

Array for cancer prognostics

scientific article published on 01 April 2002

Assembling the 20 Gb white spruce (Picea glauca) genome from whole-genome shotgun sequencing data

scientific article

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

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

scientific article

Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies

scientific article

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

Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data

scientific article published on 01 July 2019

BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data

scientific article

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

scientific article published on 3 May 2016

Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia

scientific article published on 01 March 2008

Characterization of clustered MHC-linked olfactory receptor genes in human and mouse

scientific article

Characterization of the human thyroid epigenome.

scientific article published on 14 August 2017

Clonal Decomposition and DNA Replication States Defined by Scaled Single-Cell Genome Sequencing

scientific article published on 01 November 2019

Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors

scientific article published on October 2002

Cloning and characterization of two overlapping genes in a subregion at 6q21 involved in replicative senescence and schizophrenia

scientific article

Comparison of human genetic and sequence-based physical maps

scientific article published in Nature

Complete Chloroplast Genome Sequence of a White Spruce (Picea glauca, Genotype WS77111) from Eastern Canada

scientific article published on 06 June 2019

Complete Chloroplast Genome Sequence of an Engelmann Spruce (Picea engelmannii, Genotype Se404-851) from Western Canada

scientific article published on 13 June 2019

Complete MHC haplotype sequencing for common disease gene mapping

scientific article published on 12 May 2004

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 Molecular Characterization of Papillary Renal-Cell Carcinoma

scientific article published on 4 November 2015

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

article

Comprehensive characterization of pediatric AML reveals diverse fusion oncoproteins and age-specific mutational interactions

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

scientific article published on 7 June 2016

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

scientific article

Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers

scientific article

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians

scientific article

Correction: miR-509-3p is clinically significant and strongly attenuates cellular migration and multi-cellular spheroids in ovarian cancer

scientific article published on March 2017

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

scholarly article published in Cold Spring Harbor molecular case studies

Cyclin D3 is a target gene of t(6;14)(p21.1;q32.3) of mature B-cell malignancies

article

DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape

scientific article published on 26 May 2013

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

scientific article published on 21 September 2020

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

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

scientific article published on 26 November 2014

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

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

scholarly article published in Nature Medicine

Fate mapping of human glioblastoma reveals an invariant stem cell hierarchy.

scientific article published on 30 August 2017

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

scientific article

From long range mapping to sequence-ready contigs on human chromosome 6

article

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

scientific article published on 05 October 2020

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

Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma

scientific article published in Nature Communications

Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia

scientific article

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia

scientific article

Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes

scientific article published on 24 April 2017

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

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

scientific article

Homologous Recombination Deficiency and Platinum-Based Therapy Outcomes in Advanced Breast Cancer

scientific article published in December 2017

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 candidate tumor-suppressor genes in 6q27 by combined deletion mapping and electronic expression profiling in lymphoid neoplasms

scientific article published on August 2003

Immunogenicity of recurrent mutations in MYD88 and EZH2 in non-Hodgkin lymphomas.

scientific article published on 4 November 2015

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 Molecular Characterization of Testicular Germ Cell Tumors

article by Hui Shen et al published 12 June 2018 in Cell Reports

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 ghost cell odontogenic carcinoma.

scientific article published on 11 July 2015

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma

scientific article published on 15 March 2019

It's okay to be green: Draft genome of the North American bullfrog (Rana [Lithobates] catesbeiana)

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

scientific article published on 13 August 2015

Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers

scientific article published on October 2015

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

scientific article

MAVIS: merging, annotation, validation, and illustration of structural variants

scholarly article by Caralyn Reisle published in July 2018

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

scientific article

Mapping the human T cell repertoire to recurrent driver mutations in MYD88 and EZH2 in lymphoma

scientific article published on 28 April 2017

Meeting review: Epigenetics in Development and Disease

scientific article published on January 2002

MicroRNA Expression-Based Model Indicates Event-Free Survival in Pediatric Acute Myeloid Leukemia

scientific article published on 25 October 2017

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

scientific article published in November 2017

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss

scientific article

Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma

scientific article

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

scientific article published on 22 May 2013

Mutations in EZH2 cause Weaver syndrome

scientific article

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

scientific article

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

scientific article published on 08 May 2019

National Cancer Institute Biospecimen Evidence-Based Practices: Harmonizing Procedures for Nucleic Acid Extraction from Formalin-Fixed, Paraffin-Embedded Tissue

scientific article published on 19 June 2018

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

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 oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making

scientific article published on 2 April 2018

Physical Mapping of Chromosome 6: A Strategy for the Rapid Generation of Sequence-Ready Contigs

Physical and transcript map of the region between D6S264 and D6S149 on chromosome 6q27, the minimal region of allele loss in sporadic epithelial ovarian cancer

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

RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer

scientific article

Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.

scientific article published on February 2015

Recurrent genomic rearrangements in primary testicular lymphoma.

scientific article published on 26 March 2015

Recurrent targets of aberrant somatic hypermutation in lymphoma

scientific article

Replication timing of human chromosome 6.

scientific article

Report of the Fourth International Chromosome 6 Workshop 1999. 10-12 June 1999. Cambridge, UK. Abstracts.

scientific article published in January 2000

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

scientific article published on 18 February 2016

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

scientific article

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

scientific article

Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation

scientific article published on 29 December 2010

Spatial heterogeneity in medulloblastoma

scientific article published on 10 April 2017

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

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 Chromosome 6 database at the Sanger Centre

The DNA sequence and analysis of human chromosome 6

scientific article

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 North American Brown Bear or Grizzly: Ursus arctos ssp. horribilis

article

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 North American bullfrog draft genome provides insight into hormonal regulation of long noncoding RNA.

scientific article

The evolution of imprinting: chromosomal mapping of orthologues of mammalian imprinted domains in monotreme and marsupial mammals

scientific article

The evolution of the DLK1-DIO3 imprinted domain in mammals

scientific article (publication date: 3 June 2008)

The expression level of small non-coding RNAs derived from the first exon of protein-coding genes is predictive of cancer status.

scientific article published on 17 February 2014

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

scientific article published on 18 December 2015

The genomic structure and promoter region of the human parkin gene

scientific article

The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer

scientific article

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 organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.

scientific article published in May 1997

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

scientific article published in Nature

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

Tumor necrosis factor overcomes immune evasion in p53-mutant medulloblastoma

scientific article published on 18 May 2020

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

scientific article published on 04 November 2020

Validation and calibration of next-generation sequencing to identify Epstein-Barr virus-positive gastric cancer in The Cancer Genome Atlas

scientific article

Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes

scientific article

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

scientific article

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

miR-509-3p is clinically significant and strongly attenuates cellular migration and multi-cellular spheroids in ovarian cancer.

scientific article published on 27 March 2016

Paulina is supported by:

About Paulina

Help