Rodney J. Scott

Medical Genetics, Hunter Medical Research Institute

Affiliated withHunter Medical Research Institute University of Newcastle John Hunter Hospital

Research Area

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 17	2016
Publication title Cited by 1	2019

Other Publications

Article	Year
Smad4 haploinsufficiency: a matter of dosage. PathoGenetics\| PubMed ID: 19014666	2008
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. The New England journal of medicine\| PubMed ID: 19073976	2008
Genetic epidemiology studies in hereditary non-polyposis colorectal cancer. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 19107430	2009
How to use an article about genetic association: A: Background concepts. JAMA\| PubMed ID: 19126812	2009
How to use an article about genetic association: B: Are the results of the study valid? JAMA\| PubMed ID: 19141767	2009
How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JAMA\| PubMed ID: 19155457	2009
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer. European journal of human genetics : EJHG\| PubMed ID: 19156174	2009
Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer. Gynecologic oncology\| PubMed ID: 19193430	2009
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. International journal of cancer\| PubMed ID: 19291797	2009
Planning the human variome project: the Spain report. Human mutation\| PubMed ID: 19306394	2009
Genetic variants in MUTYH are not associated with endometrial cancer risk. Hereditary cancer in clinical practice\| PubMed ID: 19338676	2009
BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms. Breast cancer research and treatment\| PubMed ID: 19360465	2010
Clinical characteristics of tumors derived from colorectal cancer patients who harbor the tumor necrosis factor alpha-1031T/T and NOD2 3020insC polymorphism. Cancer epidemiology\| PubMed ID: 19679065	2009
A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical setting. The Journal of molecular diagnostics : JMD\| PubMed ID: 19815694	2009
Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring. International journal of cancer\| PubMed ID: 19839053	2010
Immune responses of airway neutrophils are impaired in asthma. Experimental lung research\| PubMed ID: 19842845	2009
Oncostatin M (OSM) is increased in asthma with incompletely reversible airflow obstruction. Experimental lung research\| PubMed ID: 19916861	2009
Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. The Journal of molecular diagnostics : JMD\| PubMed ID: 20007843	2010
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 20010362	2009
Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer? Breast cancer research : BCR\| PubMed ID: 20156327	2010
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Human molecular genetics\| PubMed ID: 20190274	2010
Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium. Statistical applications in genetics and molecular biology\| PubMed ID: 20196755	2010
Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk. Cancer epidemiology\| PubMed ID: 20381444	2010
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hereditary cancer in clinical practice\| PubMed ID: 20487569	2010
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nature genetics\| PubMed ID: 20502484	2010
Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists. BMC cancer\| PubMed ID: 20618997	2010
Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk. BMC cancer\| PubMed ID: 20646321	2010
Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility. BMC cancer\| PubMed ID: 20701755	2010
MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood. PloS one\| PubMed ID: 20711463	2010
Leiden Open Variation Database of the MUTYH gene. Human mutation\| PubMed ID: 20725929	2010
Nucleotide excision repair gene expression after Cisplatin treatment in melanoma. Cancer research\| PubMed ID: 20807809	2010
Cytokine gene polymorphisms and risk for upper respiratory symptoms in highly-trained athletes. Exercise immunology review\| PubMed ID: 20839488	2010
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS genetics\| PubMed ID: 21060863	2010
Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia. International journal of cancer\| PubMed ID: 21080443	2011
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome. Journal of medical genetics\| PubMed ID: 21097774	2011
Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: results from an Australian case-control study. Cancer causes & control : CCC\| PubMed ID: 21113653	2011
A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis. PloS one\| PubMed ID: 21152067	2010
Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples. The Journal of allergy and clinical immunology\| PubMed ID: 21211650	2011
An X-linked haplotype of Neandertal origin is present among all non-African populations. Molecular biology and evolution\| PubMed ID: 21266489	2011
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast cancer research and treatment\| PubMed ID: 21409391	2011
Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nature genetics\| PubMed ID: 21499250	2011
P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation. BMC cancer\| PubMed ID: 21615965	2011
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. BMC cancer\| PubMed ID: 21702907	2011
Systemic upregulation of neutrophil α-defensins and serine proteases in neutrophilic asthma. Thorax\| PubMed ID: 21785157	2011
Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England)\| PubMed ID: 21816760	2012
Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation. PloS one\| PubMed ID: 21829702	2011
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature\| PubMed ID: 21833088	2011
Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population. PloS one\| PubMed ID: 21966413	2011
DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. Cancer epidemiology\| PubMed ID: 21974800	2012
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (London, England)\| PubMed ID: 22036019	2011
Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia. American journal of epidemiology\| PubMed ID: 22143821	2012
8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome. European journal of human genetics : EJHG\| PubMed ID: 22166948	2012
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Annals of neurology\| PubMed ID: 22190364	2011
Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays. European journal of endocrinology / European Federation of Endocrine Societies\| PubMed ID: 22193973	2012
Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke? Stroke; a journal of cerebral circulation\| PubMed ID: 22363065	2012
Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading. Brain research\| PubMed ID: 22370144	2012
Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology\| PubMed ID: 22426144	2012
Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype. Pathology\| PubMed ID: 22437743	2012
Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk. Journal of Alzheimer's disease : JAD\| PubMed ID: 22466002	2012
Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia. PloS one\| PubMed ID: 22558445	2012
Nodular prurigo of the vulva. Pathology\| PubMed ID: 22643768	2012
Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nature genetics\| PubMed ID: 22941190	2012
Maternal use of folic acid and other supplements and risk of childhood brain tumors. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology\| PubMed ID: 22941336	2012
Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and the risk of childhood acute lymphoblastic leukemia. Nutrition and cancer\| PubMed ID: 22966944	2012
MicroRNA-16 is down-regulated in mutated FLT3 expressing murine myeloid FDC-P1 cells and interacts with Pim-1. PloS one\| PubMed ID: 22970245	2012
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\| PubMed ID: 22987364	2013
Genome-wide association meta-analysis identifies new endometriosis risk loci. Nature genetics\| PubMed ID: 23104006	2012
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\| PubMed ID: 23125224	2013
Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort. Ophthalmology\| PubMed ID: 23131718	2013
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. The Lancet. Oncology\| PubMed ID: 23140761	2012
DNA and RNA analyses in detection of genetic predisposition to cancer. Hereditary cancer in clinical practice\| PubMed ID: 23206658	2012
Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells. Journal of psychiatric research\| PubMed ID: 23218666	2013
Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors. Cancer causes & control : CCC\| PubMed ID: 23247637	2013
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature genetics\| PubMed ID: 23263486	2012
Parental smoking and risk of childhood brain tumors. International journal of cancer\| PubMed ID: 23280760	2013
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PloS one\| PubMed ID: 23326517	2013
Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis. Pituitary\| PubMed ID: 23329361	2014
Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis. Journal of medical microbiology\| PubMed ID: 23378564	2013
Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Annals of neurology\| PubMed ID: 23381943	2013
Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation. Multiple sclerosis (Houndmills, Basingstoke, England)\| PubMed ID: 23401127	2013
Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP)\| PubMed ID: 23442539	2013
Genetic modifiers of cancer risk in Lynch syndrome: a review. Familial cancer\| PubMed ID: 23471748	2013
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Human molecular genetics\| PubMed ID: 23474815	2013
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients. BMC medical genomics\| PubMed ID: 23531357	2013
Reply to Win and Jenkins. International journal of cancer\| PubMed ID: 23536415	2013
Exposure to pesticides and the risk of childhood brain tumors. Cancer causes & control : CCC\| PubMed ID: 23558445	2013
The male excess in sudden infant deaths. Innate immunity\| PubMed ID: 23608823	2014
Can selenium levels act as a marker of colorectal cancer risk? BMC cancer\| PubMed ID: 23627542	2013
Genetic variation and its role in malignancy. International journal of biomedical science : IJBS\| PubMed ID: 23675233	2011
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (New York, N.Y.)\| PubMed ID: 23722424	2013
Genetic loci for retinal arteriolar microcirculation. PloS one\| PubMed ID: 23776548	2013
Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer. International journal of cancer\| PubMed ID: 23824750	2014
Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England)\| PubMed ID: 23897640	2014
Genome-wide analysis of blood pressure variability and ischemic stroke. Stroke; a journal of cerebral circulation\| PubMed ID: 23929743	2013
Cytokine gene polymorphism among Indigenous Australians. Innate immunity\| PubMed ID: 23940076	2014
Regulators of global genome repair do not respond to DNA damaging therapy but correlate with survival in melanoma. PloS one\| PubMed ID: 23940574	2013
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility. PloS one\| PubMed ID: 24039736	2013
Genome-wide association study of endometrial cancer in E2C2. Human genetics\| PubMed ID: 24096698	2014
Progesterone activates multiple innate immune pathways in Chlamydia trachomatis-infected endocervical cells. American journal of reproductive immunology (New York, N.Y. : 1989)\| PubMed ID: 24206234	2014
STaRRRT: a table of short tandem repeats in regulatory regions of the human genome. BMC genomics\| PubMed ID: 24228761	2013
Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia. Journal of psychiatric research\| PubMed ID: 24252819	2014
The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome. Carcinogenesis\| PubMed ID: 24336193	2014
Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors: results from an Australian case-control study. Cancer causes & control : CCC\| PubMed ID: 24337771	2014
Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia. Journal of psychiatric research\| PubMed ID: 24360035	2014
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature genetics\| PubMed ID: 24362816	2014
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients. Hereditary cancer in clinical practice\| PubMed ID: 24373140	2013
Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors. Cancer causes & control : CCC\| PubMed ID: 24445596	2014
Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer. BMC cancer\| PubMed ID: 24479446	2014
Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci. Journal of psychiatric research\| PubMed ID: 24507884	2014
Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes. The Journal of allergy and clinical immunology\| PubMed ID: 24582314	2014
Dupuytren's disease and the risk of malignant neoplasms. Hereditary cancer in clinical practice\| PubMed ID: 24598251	2014
Epithelioid trophoblastic tumour simulating a high grade carcinoma. Pathology\| PubMed ID: 24614716	2014
Copy number variation in hereditary non-polyposis colorectal cancer. Genes\| PubMed ID: 24705261	2013
The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer. BMC cancer\| PubMed ID: 24725360	2014
The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings. International journal of endocrinology\| PubMed ID: 24744783	2014
Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. Cancer genetics\| PubMed ID: 24767713	2014
Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome. The American journal of gastroenterology\| PubMed ID: 24797007	2014
KRAS mutation testing of metastatic colorectal cancer in Australia: where are we at? Asia-Pacific journal of clinical oncology\| PubMed ID: 24811330	2014
Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and risk of childhood brain tumors. Nutrition and cancer\| PubMed ID: 24897174	2014
Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nature genetics\| PubMed ID: 24929828	2014
Common variants of xeroderma pigmentosum genes and prostate cancer risk. Gene\| PubMed ID: 24933002	2014
Expanding the genetic basis of copy number variation in familial breast cancer. Hereditary cancer in clinical practice\| PubMed ID: 24955146	2014
Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control study. Pediatric blood & cancer\| PubMed ID: 25283072	2014
Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures. PloS one\| PubMed ID: 25310577	2014
Association between endometriosis and the interleukin 1A (IL1A) locus. Human reproduction (Oxford, England)\| PubMed ID: 25336714	2015
Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke; a journal of cerebral circulation\| PubMed ID: 25352485	2014
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human molecular genetics\| PubMed ID: 25378557	2015
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Human genetics\| PubMed ID: 25381466	2015
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population. Molecular biology reports\| PubMed ID: 25391773	2015
Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukemia. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology\| PubMed ID: 25395472	2015
Identification of genome-wide SNP-SNP and SNP-clinical Boolean interactions in age-related macular degeneration. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 25403535	2015
Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses. Innate immunity\| PubMed ID: 25432967	2015
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human genetics\| PubMed ID: 25487306	2015
Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families. Hereditary cancer in clinical practice\| PubMed ID: 25606063	2015
Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke; a journal of cerebral circulation\| PubMed ID: 25613305	2015
Paternal dietary folate, B6 and B12 intake, and the risk of childhood brain tumors. Nutrition and cancer\| PubMed ID: 25625505	2015
Genetics of hand grip strength in mid to late life. Age (Dordrecht, Netherlands)\| PubMed ID: 25637336	2015
Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value. Nature communications\| PubMed ID: 25641231	2015
Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors. Nutrition and cancer\| PubMed ID: 25646650	2015
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. Breast cancer research and treatment\| PubMed ID: 25682074	2015
Selenium as a marker of cancer risk and of selection for control examinations in surveillance. Contemporary oncology (Poznań, Poland)\| PubMed ID: 25691823	2015
Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1. Biological psychiatry\| PubMed ID: 25744370	2015
Thank you to all our manuscript reviewers in 2014. Hereditary cancer in clinical practice\| PubMed ID: 25763118	2015
Exploring the risk factors for sudden infant deaths and their role in inflammatory responses to infection. Frontiers in immunology\| PubMed ID: 25798137	2015
Folate pathway gene polymorphisms and risk of childhood brain tumors: results from an Australian case-control study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology\| PubMed ID: 25809864	2015
Virus Infections and Sudden Death in Infancy: The Role of Interferon-γ. Frontiers in immunology\| PubMed ID: 25814991	2015
Genetic burden associated with varying degrees of disease severity in endometriosis. Molecular human reproduction\| PubMed ID: 25882541	2015
Nerve fibers infiltrate the tumor microenvironment and are associated with nerve growth factor production and lymph node invasion in breast cancer. Molecular oncology\| PubMed ID: 26009480	2015
Biobank classification in an Australian setting. Biopreservation and biobanking\| PubMed ID: 26035012	2015
Proteotranscriptomic Profiling of 231-BR Breast Cancer Cells: Identification of Potential Biomarkers and Therapeutic Targets for Brain Metastasis. Molecular & cellular proteomics : MCP\| PubMed ID: 26041846	2015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. American journal of human genetics\| PubMed ID: 26073781	2015
Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia. Gastroenterology research and practice\| PubMed ID: 26101521	2015
Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. Journal of the National Cancer Institute\| PubMed ID: 26134033	2015
Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. International journal of molecular sciences\| PubMed ID: 26184184	2015
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology\| PubMed ID: 26282643	2015
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Breast cancer research : BCR\| PubMed ID: 26283626	2015
Genetic and Environmental Factors Affecting TNF-α Responses in Relation to Sudden Infant Death Syndrome. Frontiers in immunology\| PubMed ID: 26284064	2015
CX3CR1 is dysregulated in blood and brain from schizophrenia patients. Schizophrenia research\| PubMed ID: 26285829	2015
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-related cancer\| PubMed ID: 26330482	2015
Do common genotypes of FK506 binding protein 5 (FKBP5) moderate the effects of childhood maltreatment on cognition in schizophrenia and healthy controls? Journal of psychiatric research\| PubMed ID: 26424418	2015
Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context. Scientific reports\| PubMed ID: 26455428	2015
Methylation of the Corticotropin Releasing Hormone Gene Promoter in BeWo Cells: Relationship to Gene Activity. International journal of endocrinology\| PubMed ID: 26457081	2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions. European journal of medical genetics\| PubMed ID: 26475974	2015
Novel genes associated with lymph node metastasis in triple negative breast cancer. Scientific reports\| PubMed ID: 26537449	2015
Genome-wide DNA methylation profiling of CD8+ T cells shows a distinct epigenetic signature to CD4+ T cells in multiple sclerosis patients. Clinical epigenetics\| PubMed ID: 26550040	2015
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. Human molecular genetics\| PubMed ID: 26561523	2016
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-related cancer\| PubMed ID: 26574572	2016
The presence of the intron 3 16 bp duplication polymorphism of p53 (rs17878362) in breast cancer is associated with a low Δ40p53:p53 ratio and better outcome. Carcinogenesis\| PubMed ID: 26586794	2016
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific reports\| PubMed ID: 26621817	2015
MiRNAs and Other Epigenetic Changes as Biomarkers in Triple Negative Breast Cancer. International journal of molecular sciences\| PubMed ID: 26633365	2015
VariantSpark: population scale clustering of genotype information. BMC genomics\| PubMed ID: 26651996	2015
The prevalence of unique SNPs in the renin-angiotensin system highlights the need for pharmacogenetics in Indigenous Australians. Clinical and experimental pharmacology & physiology\| PubMed ID: 26667052	2016
Altered neural signaling and immune pathways in peripheral blood mononuclear cells of schizophrenia patients with cognitive impairment: A transcriptome analysis. Brain, behavior, and immunity\| PubMed ID: 26697997	2016
Serum Concentrations of Selenium and Copper in Patients Diagnosed with Pancreatic Cancer. Cancer research and treatment : official journal of Korean Cancer Association\| PubMed ID: 26727715	2016
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. Journal of clinical oncology : official journal of the American Society of Clinical Oncology\| PubMed ID: 26786923	2016
Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families. Cancer medicine\| PubMed ID: 26811195	2016
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature communications\| PubMed ID: 26831199	2016
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nature communications\| PubMed ID: 26868379	2016
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans. Hereditary cancer in clinical practice\| PubMed ID: 26884819	2016
Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients. Meta gene\| PubMed ID: 26909336	2016
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of medical genetics\| PubMed ID: 26921362	2016
Thank you to all our manuscript reviewers in 2015. Hereditary cancer in clinical practice\| PubMed ID: 26933466	2016
Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract. JAMA ophthalmology\| PubMed ID: 26986182	2016
Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. JAMA psychiatry\| PubMed ID: 27007234	2016
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. Human molecular genetics\| PubMed ID: 27008869	2016
Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. Pathology\| PubMed ID: 27020214	2016
Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. Scientific reports\| PubMed ID: 27030319	2016
Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer? International journal of cancer\| PubMed ID: 27038244	2016
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Molecular genetics & genomic medicine\| PubMed ID: 27064304	2016
Renin-angiotensin system gene polymorphisms and endometrial cancer. Endocrine connections\| PubMed ID: 27068935	2016
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nature genetics\| PubMed ID: 27089181	2016
A polymorphic repeat in the IGF1 promoter influences the risk of endometrial cancer. Endocrine connections\| PubMed ID: 27090263	2016
Five endometrial cancer risk loci identified through genome-wide association analysis. Nature genetics\| PubMed ID: 27135401	2016
Genome-wide association study identifies 74 loci associated with educational attainment. Nature\| PubMed ID: 27225129	2016
A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer. BMC research notes\| PubMed ID: 27230222	2016
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. American journal of human genetics\| PubMed ID: 27259051	2016
Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia. Schizophrenia research\| PubMed ID: 27450777	2016
Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nature genetics\| PubMed ID: 27463399	2016
Reevaluation of RINT1 as a breast cancer predisposition gene. Breast cancer research and treatment\| PubMed ID: 27544226	2016
Genetic risk score Mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology\| PubMed ID: 27550749	2016
Differing Contributions of Classical Risk Factors to Type 2 Diabetes in Multi-Ethnic Malaysian Populations. International journal of environmental research and public health\| PubMed ID: 30544761	2018