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Author Details

Bernard J Pope
University of Melbourne, The University of Melbourne
2011
54
17
PMIDPaper TitleJournal TitlePublished Year
37090539Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.medRxiv2024
38063999Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.Fam Cancer2024
36396080Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.J Mol Diagn2023
37894291DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.Cancers (Basel)2023
37101184A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.J Transl Med2023
36610996A polygenic two-hit hypothesis for prostate cancer.J Natl Cancer Inst2023
34817745Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.Fam Cancer2022
35668106Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.Nat Commun2022
35659150Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.Eur Urol2022
36103484Perish and publish: Dynamics of biomedical publications by deceased authors.PLoS One2022
36103257VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses.Mol Biol Evol2022
34764149Long-read assembly and comparative evidence-based reanalysis of <i>Cryptosporidium</i> genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions.Genome Res2022
33383211Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.J Mol Diagn2021
34887416Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ Breast Cancer2021
34874243SNPPar: identifying convergent evolution and other homoplasies from microbial whole-genome alignments.Microb Genom2021
32338768Rare germline genetic variants and risk of aggressive prostate cancer.Int J Cancer2020
32060697Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.Fam Cancer2020
32772980Genetic testing in Poland and Ukraine: should comprehensive germline testing of <i>BRCA1</i> and <i>BRCA2</i> be recommended for women with breast and ovarian cancer?Genet Res (Camb)2020
30520990Annotation of the Giardia proteome through structure-based homology and machine learning.Gigascience2019
31267764Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening.Biotechniques2019
31544213Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software.Gigascience2019
31162827Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.Mol Genet Genomic Med2019
28616688Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas.Fam Cancer2018
30326623sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data.Int J Mol Sci2018
29422015Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?BMC Cancer2018
29388942Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.Genet Med2018
29052111Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Fam Cancer2018
29224068Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing.Methods Mol Biol2018
29120461Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.Genet Med2018
29351780FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.BMC Med Genet2018
28063109Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.Fam Cancer2017
28511696Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.Hum Genomics2017
28751965Four simple recommendations to encourage best practices in research software.F1000Res2017
28825401A novel <i>Drosophila</i> injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade.Elife2017
27083325UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing.BMC Bioinformatics2016
27656414Fine resolution mapping of double-strand break sites for human ribosomal DNA units.Genom Data2016
27942458Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells.Genom Data2016
26911705MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing.BMC Bioinformatics2016
25575445Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.Breast Cancer Res Treat2015
26613017Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat.Gigascience2015
25818563High-resolution twin-ion metabolite extraction (HiTIME) mass spectrometry: nontargeted detection of unknown drug metabolites by isotope labeling, liquid chromatography mass spectrometry, and automated high-performance computing.Anal Chem2015
25605578Abridged adapter primers increase the target scope of Hi-Plex.Biotechniques2015
24461215ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.Source Code Biol Med2014
25422674SRST2: Rapid genomic surveillance for public health and hospital microbiology labs.Genome Med2014
25050558Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.Cancer Discov2014
23441864FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.BMC Bioinformatics2013
24206657Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.BMC Med Genomics2013
23966833MYRF is a membrane-associated transcription factor that autoproteolytically cleaves to directly activate myelin genes.PLoS Biol2013
23933242Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.Anal Biochem2013
23931594A high-plex PCR approach for massively parallel sequencing.Biotechniques2013
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Collaborators

Daniel J Park
The University of Melbourne
Co-authored papers 26
Graham G Giles
Co-authored papers 11
Chol-Hee Jung
University of Melbourne
Co-authored papers 7
David E Goldgar
University of Utah
Co-authored papers 5
Roger L Milne
Co-authored papers 4
Christopher M Hovens
Royal Melbourne Hospital, The University of Melbourne
Co-authored papers 3
Steven Gallinger
Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto
Co-authored papers 3
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 3
Mary Beth Terry
Co-authored papers 3
Niall M Corcoran
Royal Melbourne Hospital, The University of Melbourne
Co-authored papers 3
Jenny Chang-Claude
German Cancer Research Center (DKFZ)
Co-authored papers 2
Thomas J Hudson
Ontario Institute for Cancer Research
Co-authored papers 2
Ulrike Peters
Co-authored papers 2
Nicola K Poplawski
Royal Adelaide Hospital
Co-authored papers 2
John J Rice
Co-authored papers 2
Irene L Andrulis
University of Toronto
Co-authored papers 2
Sonja I Berndt
Co-authored papers 2
Sebastian M Waszak
University of California san francisco
Co-authored papers 2
Paul C Boutros
University of California los angeles
Co-authored papers 2
Kayoko Tao
National Cancer Center Hospital
Co-authored papers 2
Russell Bell
Huntsman Cancer Institute at the University of Utah
Co-authored papers 2
JoAnn E Manson
Co-authored papers 2
Esther M John
Co-authored papers 2
Andrew T Chan
Massachusetts General Hospital and Harvard Medical School
Co-authored papers 2
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 2
Robert G Bristow
University of Toronto
Co-authored papers 2
Syed H E Zaidi
Ontario Institute for Cancer Research
Co-authored papers 2
Quang M Trinh
Ontario Institute for Cancer Research
Co-authored papers 2
Joachim Weischenfeldt
University of Copenhagen
Co-authored papers 2
David A Drew
Massachusetts General Hospital and Harvard Medical School
Co-authored papers 2
Release 1.2