Select Publications
Journal articles
2024, 'Choroidal melanoma in a patient with multiple endocrine neoplasia type 1', Canadian Journal of Ophthalmology, http://dx.doi.org/10.1016/j.jcjo.2024.08.017
,2024, 'Neuropathological Applications of Microscopy with Ultraviolet Surface Excitation (MUSE): A Concordance Study of Human Primary and Metastatic Brain Tumors', Brain Sciences, 14, pp. 108, http://dx.doi.org/10.3390/brainsci14010108
,2023, 'The PRESIDE (PhaRmacogEnomicS In DEpression) Trial: a double-blind randomised controlled trial of pharmacogenomic-informed prescribing of antidepressants on depression outcomes in patients with major depressive disorder in primary care', Trials, 24, http://dx.doi.org/10.1186/s13063-023-07361-6
,2022, 'Biopsy for molecular risk stratification in uveal melanoma: Yields and molecular characteristics in 119 patients', Clinical and Experimental Ophthalmology, 50, pp. 50 - 61, http://dx.doi.org/10.1111/ceo.14022
,2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
,2021, 'Poor mobilization of autologous CD34+ peripheral blood stem cells in haematology patients undergoing autologous stem cell transplantation is associated with the presence of variants in genes implicated in clonal haematopoiesis of indeterminant potential', British Journal of Haematology, 193, pp. 841 - 844, http://dx.doi.org/10.1111/bjh.17316
,2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
,2021, 'Induction of muscle-regenerative multipotent stem cells from human adipocytes by PDGF-AB and 5-azacytidine', Science Advances, 7, pp. eabd1929, http://dx.doi.org/10.1126/sciadv.abd1929
,2021, 'Induction of Muscle Regenerative Multipotent Stem Cells from Human Adipocytes by PDGF-AB and 5-Azacytidine', Science Advances, pp. 2020.06.04.130872 - 2020.06.04.130872, http://dx.doi.org/10.1126/sciadv.abd1929
,2020, 'Lipid-Producing Ciliochoroidal Melanoma with Expression of HMG-CoA Reductase', Ocular Oncology and Pathology, 6, pp. 416 - 421, http://dx.doi.org/10.1159/000510393
,2020, 'Non-CpG methylation biases bisulphite PCR towards low or unmethylated mitochondrial DNA: recommendations for the field', Environmental Epigenetics, 6, http://dx.doi.org/10.1093/eep/dvaa001
,2019, 'Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing', JNCI CANCER SPECTRUM, 3, http://dx.doi.org/10.1093/jncics/pkz012
,2018, 'Reduced nuclear DNA methylation and mitochondrial transcript changes in adenomas do not associate with mtDNA methylation', Biomarker Research, 6, http://dx.doi.org/10.1186/s40364-018-0151-x
,2018, 'Jak2V617F and Dnmt3a loss cooperate to induce myelofibrosis through activated enhancer-driven inflammation', Blood, 132, pp. 2707 - 2721, http://dx.doi.org/10.1182/blood-2018-04-846220
,2018, 'Disruption of a 35 KB enhancer impairs CTCF binding and MLH1 expression in colorectal cells', Clinical Cancer Research, 24, pp. 4602 - 4611, http://dx.doi.org/10.1158/1078-0432.CCR-17-3678
,2018, 'AZA-MS: A novel multiparameter mass spectrometry method to determine the intracellular dynamics of azacitidine therapy in vivo', Leukemia, 32, pp. 900 - 910, http://dx.doi.org/10.1038/leu.2017.340
,2018, 'Case study – Reproductive risk of clinically relevant thalassaemia despite mild microcytosis and normal thalassaemia screen', Pathology, 50, pp. S63 - S63, http://dx.doi.org/10.1016/j.pathol.2017.12.148
,2017, 'IN VIVO CRISPR EDITING OF DNMT3A IN JAK2V617F HEMATOPOIETIC STEM CELLS INDUCES MYELOFIBROSIS', EXPERIMENTAL HEMATOLOGY, 53, pp. S95 - S95, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000972742900206&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2017, 'The microbiota and epigenetic regulation of t helper 17/regulatory T cells: In search of a balanced immune system', Frontiers in Immunology, 8, pp. 417, http://dx.doi.org/10.3389/fimmu.2017.00417
,2017, 'Validation of specificity of antibodies for immunohistochemistry: the case of ROR2', Virchows Archiv : an international journal of pathology, 470, pp. 99 - 108, http://dx.doi.org/10.1007/s00428-016-2019-5
,2016, 'Erratum to: Validation of specificity of antibodies for immunohistochemistry: the case of ROR2 (Virchows Archiv, (2016), 10.1007/s00428-016-2019-5)', Virchows Archiv, 469, pp. 717, http://dx.doi.org/10.1007/s00428-016-2036-4
,2016, 'Integrated genetic, epigenetic, and transcriptional profiling identifies molecular pathways in the development of laterally spreading tumors', Molecular Cancer Research, 14, pp. 1217 - 1228, http://dx.doi.org/10.1158/1541-7786.MCR-16-0175
,2016, 'Obesity-induced sperm DNA methylation changes at satellite repeats are reprogrammed in rat offspring', Asian Journal of Andrology, 18, pp. 930 - 936, http://dx.doi.org/10.4103/1008-682X.163190
,2016, 'Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients', Cancer Genetics, 209, pp. 497 - 500, http://dx.doi.org/10.1016/j.cancergen.2016.10.001
,2016, 'ROR2 is epigenetically inactivated in the early stages of colorectal neoplasia and is associated with proliferation and migration.', BMC Cancer, 16, pp. 508, http://dx.doi.org/10.1186/s12885-016-2576-7
,2016, 'An investigation of the potential for epigenetic inactivation by transcription read-through in a sporadic colorectal cancer', Gene, 585, pp. 154 - 158, http://dx.doi.org/10.1016/j.gene.2016.03.031
,2016, 'Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome', Human Mutation, 37, pp. 417 - 426, http://dx.doi.org/10.1002/humu.22971
,2016, 'Pdgf-ab and 5-Azacytidine induce conversion of somatic cells into tissue-regenerative multipotent stem cells', Proceedings of the National Academy of Sciences of the United States of America, 113, pp. E2306 - E2315, http://dx.doi.org/10.1073/pnas.1518244113
,2016, 'A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome', Carcinogenesis, 37, pp. 10 - 17, http://dx.doi.org/10.1093/carcin/bgv154
,2016, 'Arrested hematopoiesis and vascular relaxation defects in mice with a mutation in Dhfr', Molecular and Cellular Biology, 36, pp. 1222 - 1236, http://dx.doi.org/10.1128/MCB.01035-15
,2016, 'Defining the criteria for identifying constitutional epimutations', Clinical Epigenetics, 8, http://dx.doi.org/10.1186/s13148-016-0207-4
,2015, 'Mosaic epigenetic inheritance as a cause of early-onset colorectal cancer', JAMA Oncology, 1, pp. 953 - 957, http://dx.doi.org/10.1001/jamaoncol.2015.1484
,2015, 'Single nucleotide polymorphism array profiling identifies distinct chromosomal aberration patterns across colorectal adenomas and carcinomas', Genes Chromosomes and Cancer, 54, pp. 303 - 314, http://dx.doi.org/10.1002/gcc.22243
,2015, 'Lynch Syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.', Human Mutation, 36, pp. 622 - 630, http://dx.doi.org/10.1002/humu.22785
,2015, 'The search for cis-regulatory driver mutations in cancer genomes', Oncotarget, 6, pp. 32509 - 32525, http://dx.doi.org/10.18632/oncotarget.5085
,2014, 'Altered promoter nucleosome positioning is an early event in gene silencing', Epigenetics, 9, pp. 1422 - 1430, http://dx.doi.org/10.4161/15592294.2014.970077
,2014, 'Discrimination of pseudogene and parental gene dna methylation using allelic bisulfite sequencing', Methods in Molecular Biology, 1167, pp. 265 - 274, http://dx.doi.org/10.1007/978-1-4939-0835-6_18
,2014, 'DNA Methylation Is Altered In B And NK Lymphocytes In Obese And Type 2 Diabetic Human', Metabolism: clinical and experimental, 63, pp. 1188 - 1197, http://dx.doi.org/10.1016/j.metabol.2014.05.014
,2014, 'Epigenetic inactivation of the candidate tumor suppressor USP44 is a frequent and early event in colorectal neoplasia', Epigenetics, 9, pp. 1092 - 1100, http://dx.doi.org/10.4161/epi.29222
,2014, 'The evidence for functional non-CpG methylation in mammalian cells', Epigenetics, 9, pp. 823 - 828, http://dx.doi.org/10.4161/epi.28741
,2014, 'Epimutations and cancer susceptibility', , http://dx.doi.org/10.1002/9780470015902.a0024615
,2014, 'Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients', Clinical Epigenetics, 6, pp. 32, http://dx.doi.org/10.1186/s13148-014-0032-6
,2014, 'The importance of distinguishing pseudogenes from parental genes', Clinical Epigenetics, 6, pp. 33, http://dx.doi.org/10.1186/s13148-014-0033-5
,2014, 'Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients', Clinical Epigenetics, 6, pp. 32 - 32, http://dx.doi.org/10.1186/preaccept-1571082317134727
,2013, 'Establishing the clinical utility of epigenetic markers in cancer: Many challenges ahead', Epigenomics, 5, pp. 513 - 523, http://dx.doi.org/10.2217/epi.13.53
,2013, 'Gut microbiota and obesity-related gastrointestinal cancer: a focus on epigenetics', Translational Gastrointestinal Cancer, 2, pp. 204 - 210
,2013, 'Reassembly of Nucleosomes at the MLH1 Promoter Initiates Resilencing Following Decitabine Exposure', PLoS Genetics, 9, http://dx.doi.org/10.1371/journal.pgen.1003636
,2013, 'A correlation of the endoscopic characteristics of colonic laterally spreading tumours (LSTs) with genetic alterations', European Journal of Gastroenterology and Hepatology, 25, pp. 319 - 326, http://dx.doi.org/10.1097/MEG.0b013e32835b57e7
,2013, 'Liquid chromatography tandem mass spectrometry for the measurement of global DNA methylation and hydroxymethylation', Journal of Proteomics & Bioinformatics, 01, http://dx.doi.org/10.4172/jpb.S2-005
,2012, 'Abstract 68: Beyond GWAS: The prognostic significance of promoter DNA methylation in patients with neuroblastoma.', Cancer Epidemiology, Biomarkers & Prevention, 21, pp. 68 - 68, http://dx.doi.org/10.1158/1055-9965.gwas-68
,