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List of works by Nicola J Waddell

10. Clinicopathological features of HER2 amplified pancreatic cancer

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

scientific article published on June 2016

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

scientific article

A novel in vitro approach to assess the fit of implant frameworks

scientific article published on 06 October 2010

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

scientific article published on 01 July 2019

A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing.

scientific article published in July 2014

A2AR adenosine signaling suppresses natural killer cell maturation in the tumor microenvironment.

scientific article published on 11 December 2017

APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers

scientific article published on 06 May 2020

Aberrant Expression of E-cadherin in Lobular Carcinomas of the Breast

scientific article published on 01 May 2008

Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation.

scientific article published on 19 January 2016

Analysis of Brca1-deficient mouse mammary glands reveals reciprocal regulation of Brca1 and c-kit

scientific article published on 6 December 2010

Bone marrow transplantation generates T cell-dependent control of myeloma in mice

scientific article published on 19 November 2018

CEP55 is a determinant of cell fate during perturbed mitosis in breast cancer

article

Characterization of a novel breast cancer cell line derived from a metastatic bone lesion of a breast cancer patient

scientific article published on 21 February 2018

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

scientific article published on 31 August 2013

Clinical and pathologic features of familial pancreatic cancer

scientific article published on 14 October 2014

Comparative microRNA profiling of sporadic and BRCA1 associated basal-like breast cancers

scientific article published on 8 July 2015

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

scientific article published in 2022

Complex structural rearrangements are present in high-grade dysplastic Barrett's oesophagus samples

scientific article published on 04 February 2019

Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma

scientific article published on 30 May 2022

Copy number profiles of paired primary and metastatic colorectal cancers

scientific article published on 15 December 2017

Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours

scientific article published on 27 September 2017

DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status

Diff-Quik Cytology Smears from Endobronchial Ultrasound Transbronchial Needle Aspiration Lymph Node Specimens as a Source of DNA for Next-Generation Sequencing Instead of Cell Blocks

scientific article published on 07 February 2019

EIF1AX and NRAS Mutations Co-occur and Cooperate in Low-Grade Serous Ovarian Carcinomas

scientific article published on 23 June 2017

Early changes in CD4+ T cell activation following blood-stage Plasmodium falciparum infection.

scientific article

Erratum: Corrigendum: Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance

scientific article published on 01 January 2017

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

scientific article published on 13 December 2006

Gene expression profiling of tumour epithelial and stromal compartments during breast cancer progression

article

Genome Scale Epigenetic Profiling Reveals Five Distinct Subtypes of Colorectal Cancer

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

scientific article published on 9 May 2014

Genome-wide review of transcriptional complexity in mouse protein kinases and phosphatases.

scientific article

Genomic analyses identify molecular subtypes of pancreatic cancer

scientific article published on 24 February 2016

Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing.

scientific article

Homologous Recombination DNA Repair Pathway Disruption and Retinoblastoma Protein Loss Are Associated with Exceptional Survival in High-Grade Serous Ovarian Cancer.

scientific article

IL23R-Protective Coding Variant Promotes Beneficial Bacteria and Diversity in the Ileal Microbiome in Healthy Individuals Without Inflammatory Bowel Disease

scientific article published on 01 March 2019

Identification of a novel disease-associated variant in the BRCA1 3’UTR that introduces a functional miR-103 target site

scientific article published on 12 April 2012

Identification of the CIMP-like subtype and aberrant methylation of members of the chromosomal segregation and spindle assembly pathways in esophageal adenocarcinoma

scientific article published on 10 February 2016

Integrative Genome-Scale DNA Methylation Analysis of a Large and Unselected Cohort Reveals 5 Distinct Subtypes of Colorectal Adenocarcinomas

scientific article published on 05 April 2019

Interleukin-12 from CD103+ Batf3-Dependent Dendritic Cells Required for NK-Cell Suppression of Metastasis

scientific article published on 25 October 2017

International network of cancer genome projects

scientific article

Intratumoural Heterogeneity Underlies Distinct Therapy Responses and Treatment Resistance in Glioblastoma

article

Jak2V617F and Dnmt3a loss cooperate to induce myelofibrosis through activated enhancer-driven inflammation

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.

scientific article published on August 2017

Lost in translation: returning germline genetic results in genome-scale cancer research

scientific article

Malignant cells from pleural fluids in malignant mesothelioma patients reveal novel mutations.

scientific article published on 9 March 2018

MicroRNAs and their isomiRs function cooperatively to target common biological pathways

scientific article

Microarray-based DNA profiling to study genomic aberrations.

scientific article published on July 2008

Mitochondrial mutations and metabolic adaptation in pancreatic cancer.

scientific article published on 30 January 2017

Mixed ductal-lobular carcinomas: evidence for progression from ductal to lobular morphology

scientific article published on 18 January 2018

Molecular Genomic Profiling of Melanocytic Nevi

scientific article published on 14 February 2019

Morphological and molecular analysis of a breast cancer cluster at the ABC Studio in Toowong

scientific article published on 01 August 2012

Mutation load in melanoma is affected by MC1R genotype

scientific article published on 26 December 2016

Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

scientific article published in November 2008

Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance.

scientific article published on 5 September 2016

Neuropilin-2 promotes extravasation and metastasis by interacting with endothelial α5 integrin

scientific article published on 20 May 2013

Next-Generation Sequencing of Endobronchial Ultrasound Transbronchial Needle Aspiration Specimens in Lung Cancer.

scientific article published in August 2017

PGTools: A Software Suite for Proteogenomic Data Analysis and Visualization

scientific article

PINA v2.0: mining interactome modules.

scientific article published on 8 November 2011

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

scientific article

Patterns of Genomic Instability in Breast Cancer

scientific article published on 06 February 2019

Phenotypic and molecular dissection of Metaplastic Breast Cancer and the prognostic implications

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

scientific article

Profiling copy number alterations in cell-free tumour DNA using a single-reference

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

Recurrent inactivating RASA2 mutations in melanoma

scientific article published on 26 October 2015

Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma

scientific article published on 8 May 2017

Returning individual research results for genome sequences of pancreatic cancer

scientific article

Running Genomic Analyses in the Cloud

scientific article published on 01 August 2019

SOX9 regulates ERBB signalling in pancreatic cancer development.

scientific article published on 21 October 2014

Sequencing transcriptomes in toto.

scientific article published on 04 February 2011

Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma

scientific article published on 15 March 2012

Somatic point mutation calling in low cellularity tumors.

scientific article

Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer

scientific article published on 28 October 2017

Targeting novel LSD1-dependent ACE2 demethylation domains inhibits SARS-CoV-2 replication

scientific article published on 24 May 2021

Telomere sequence content can be used to determine ALT activity in tumours

scientific article published on 30 April 2018

The Prognostic Significance of Low-Frequency Somatic Mutations in Metastatic Cutaneous Melanoma

scientific article published on 01 January 2018

The clinical potential and challenges of sequencing cancer genomes for personalized medical genomics.

scientific article

The expression of the ubiquitin ligase SIAH2 (seven in absentia homolog 2) is mediated through gene copy number in breast cancer and is associated with a basal-like phenotype and p53 expression

scientific article

The immune checkpoint CD96 defines a distinct lymphocyte phenotype and is highly expressed on tumor-infiltrating T cells

scientific article published on 17 October 2018

Tumor immunoevasion by the conversion of effector NK cells into type 1 innate lymphoid cells.

scientific article

Tumor mutation burden and structural chromosomal aberrations are not associated with T-cell density or patient survival in acral, mucosal, and cutaneous melanomas

scientific article published on 11 September 2020

Understanding pancreatic cancer genomes

scientific article published on August 2013

Unexpected UVR and non-UVR mutation burden in some acral and cutaneous melanomas.

scientific article published on 9 January 2017

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

scientific article

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

scientific article

Using the MCF10A/MCF10CA1a Breast Cancer Progression Cell Line Model to Investigate the Effect of Active, Mutant Forms of EGFR in Breast Cancer Development and Treatment Using Gefitinib

scientific article published on 13 May 2015

Using whole-genome sequencing data to derive the homologous recombination deficiency scores

scientific article published on 07 August 2020

What does Australia's investment in genomics mean for public health?

scientific article published on 04 March 2019

Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma

scientific article

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

scientific article published on 15 May 2020

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility

scientific article published on 21 November 2018

Whole genomes redefine the mutational landscape of pancreatic cancer

scientific article published in February 2015

Whole-genome characterization of chemoresistant ovarian cancer

scientific article published in May 2015

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

scientific article published on 18 July 2019

Whole-genome landscape of pancreatic neuroendocrine tumours.

scientific article published on 15 February 2017

Whole-genome landscapes of major melanoma subtypes.

scientific article published on 3 May 2017

Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

scientific article published on 16 October 2020

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

scientific article published on 01 July 2019

qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles

scientific article