Background and activities
Scientific, academic and artistic work
A selection of recent journal publications, artistic productions, books, including book and report excerpts. See all publications in the database
- (2017) Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clinical Genetics.
- (2017) The genetic basis of colonic adenomatous polyposis syndromes. Hereditary Cancer in Clinical Practice. vol. 15:5.
- (2016) Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Molecular Genetics & Genomic Medicine. vol. 4 (2).
- (2016) Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families. Cancer Medicine. vol. 5 (5).
- (2015) Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients. Meta Gene.
- (2014) Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures. PLoS ONE. vol. 9 (10).
- (2014) Expanding the genetic basis of copy number variation in familial breast cancer. Hereditary Cancer in Clinical Practice. vol. 12 (1).
- (2013) Cell cycle–related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients. Carcinogenesis. vol. 34 (2).
- (2013) Copy number variation in hereditary non-polypsis colorectal cancer. Genes. vol. 4 (4).
- (2013) Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility. PLoS ONE. vol. 8 (9).
- (2013) Continuing difficulties in interpreting CNV data: Lessons from a genome-wide CNV association study of Australian HNPCC/Lynch syndrome patients. BMC Medical Genomics. vol. 26.
- (2013) The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients. Hereditary Cancer in Clinical Practice. vol. 11 (1).
- (2013) Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers. International Journal of Cancer. vol. 132 (7).
- (2013) Genetic Modifiers of Cancer risk in Lynch syndrome: A Review. Familial Cancer. vol. 12 (2).
- (2013) Letter to the Editor: Reply to Win and Jenkins. International Journal of Cancer. vol. 133 (7).
- (2012) 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome. European Journal of Human Genetics. vol. 20 (5).
- (2011) p53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to cell proliferation. BMC Cancer. vol. 11 (1).
- (2011) Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndromes. Journal of Medical Genetics. vol. 48 (4).
- (2011) Genetic variation and its role in malignancy. International Journal of Biomedical Science. vol. 7 (3).
- (2011) BRIP1, PALB2 and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Research. vol. 127 (3).