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CONTRA: copy number analysis for targeted resequencing

Bioinformatics (Oxford, England), 2012-05, Vol.28 (10), p.1307-1313

2012

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Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL

Blood, 2022-02, Vol.139 (8), p.1198-1207

2022

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SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer

RNA (Cambridge), 2011-05, Vol.17 (5), p.878-891

2011

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Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

PLoS genetics, 2012-09, Vol.8 (9), p.e1002894

2012

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Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions

Disease models & mechanisms, 2021-07, Vol.14 (7)

2021

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High-Resolution Single Nucleotide Polymorphism Array Analysis of Epithelial Ovarian Cancer Reveals Numerous Microdeletions and Amplifications

Clinical cancer research, 2007-08, Vol.13 (16), p.4731-4739

2007

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Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Breast cancer research : BCR, 2018-01, Vol.20 (1), p.3-3, Article 3

2018

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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Breast cancer research : BCR, 2015-08, Vol.17 (1), p.111-111, Article 111

2015

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Canary: an atomic pipeline for clinical amplicon assays

BMC bioinformatics, 2017-12, Vol.18 (1), p.555-555, Article 555

2017

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Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

PloS one, 2013-01, Vol.8 (1), p.e54772-e54772

2013

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Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

Human mutation, 2012-01, Vol.33 (1), p.95-99

2012

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Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment

PloS one, 2014-04, Vol.9 (4), p.e95217-e95217

2014

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PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Genome medicine, 2017-04, Vol.9 (1), p.38-38, Article 38

2017

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Molecular Drivers of Breast Implant-Associated Anaplastic Large Cell Lymphoma

Plastic and reconstructive surgery (1963), 2019-03, Vol.143 (3S A Review of Breast Implant-Associated Anaplastic Large Cell Lymphoma), p.59S

2019

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Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia

Cancer discovery, 2019-03, Vol.9 (3), p.342-353

2019

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Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity

EJHaem, 2023-05, Vol.4 (2), p.463-469

2023

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Multiple BCL2 mutations cooccurring with Gly101Val emerge in chronic lymphocytic leukemia progression on venetoclax

Blood, 2020-03, Vol.135 (10), p.773-777

2020

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Genome-wide, high-resolution detection of copy number, loss of heterozygosity, and genotypes from formalin-fixed, paraffin-embedded tumor tissue using microarrays

Cancer research (Chicago, Ill.), 2007-03, Vol.67 (6), p.2544-2551

2007

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Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

Journal of clinical oncology, 2016-05, Vol.34 (13), p.1455-1459

2016

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Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study

NPJ breast cancer, 2021-06, Vol.7 (1), p.76-76, Article 76

2021

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Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

NPJ breast cancer, 2022-01, Vol.8 (1), p.10-10, Article 10

2022

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Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma

Haematologica (Roma), 2016-09, Vol.101 (9), p.e387-e390

2016

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First-in-Human RNA Polymerase I Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Cancers: Results of a Phase I Dose-Escalation Study

Cancer discovery, 2019-08, Vol.9 (8), p.1036-1049

2019

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Health economic evidence for the use of molecular biomarker tests in hematological malignancies: A systematic review

European journal of haematology, 2022-06, Vol.108 (6), p.469-485

2022

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Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing

Haematologica (Roma), 2021-01, Vol.106 (1), p.313-315

2021

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CONTRA: copy number analysis for targeted resequencing

Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL

SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions

High-Resolution Single Nucleotide Polymorphism Array Analysis of Epithelial Ovarian Cancer Reveals Numerous Microdeletions and Amplifications

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Canary: an atomic pipeline for clinical amplicon assays

Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment

PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Molecular Drivers of Breast Implant-Associated Anaplastic Large Cell Lymphoma

Acquisition of the Recurrent Gly101Val Mutation in BCL2 Confers Resistance to Venetoclax in Patients with Progressive Chronic Lymphocytic Leukemia

Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity

Multiple BCL2 mutations cooccurring with Gly101Val emerge in chronic lymphocytic leukemia progression on venetoclax

Genome-wide, high-resolution detection of copy number, loss of heterozygosity, and genotypes from formalin-fixed, paraffin-embedded tumor tissue using microarrays

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study

Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma

First-in-Human RNA Polymerase I Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Cancers: Results of a Phase I Dose-Escalation Study

Health economic evidence for the use of molecular biomarker tests in hematological malignancies: A systematic review

Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing

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