Rodney J. Scott

Smad4 haploinsufficiency: a matter of dosage.

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.

Genetic epidemiology studies in hereditary non-polyposis colorectal cancer.

How to use an article about genetic association: A: Background concepts.

How to use an article about genetic association: B: Are the results of the study valid?

How to use an article about genetic association: C: What are the results and will they help me in caring for my patients?

MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.

Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer.

Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.

Planning the human variome project: the Spain report.

Genetic variants in MUTYH are not associated with endometrial cancer risk.

BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms.

Clinical characteristics of tumors derived from colorectal cancer patients who harbor the tumor necrosis factor alpha-1031T/T and NOD2 3020insC polymorphism.

A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical setting.

Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring.

Immune responses of airway neutrophils are impaired in asthma.

Oncostatin M (OSM) is increased in asthma with incompletely reversible airflow obstruction.

Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer?

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.

Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium.

Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk.

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.

Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists.

Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.

Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility.

MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood.

Leiden Open Variation Database of the MUTYH gene.

Nucleotide excision repair gene expression after Cisplatin treatment in melanoma.

Cytokine gene polymorphisms and risk for upper respiratory symptoms in highly-trained athletes.

Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia.

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome.

Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: results from an Australian case-control study.

A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis.

Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples.

An X-linked haplotype of Neandertal origin is present among all non-African populations.

BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation.

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Systemic upregulation of neutrophil α-defensins and serine proteases in neutrophilic asthma.

Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis.

Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population.

DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.

Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia.

8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome.

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays.

Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?

Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading.

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer.

Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype.

Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk.

Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia.

Nodular prurigo of the vulva.

Common variants at 6p21.1 are associated with large artery atherosclerotic stroke.

Maternal use of folic acid and other supplements and risk of childhood brain tumors.

Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and the risk of childhood acute lymphoblastic leukemia.

MicroRNA-16 is down-regulated in mutated FLT3 expressing murine myeloid FDC-P1 cells and interacts with Pim-1.

Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.

Genome-wide association meta-analysis identifies new endometriosis risk loci.

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.

Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort.

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.

DNA and RNA analyses in detection of genetic predisposition to cancer.

Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells.

Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors.

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Parental smoking and risk of childhood brain tumors.

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis.

Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis.

Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation.

Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication.

Genetic modifiers of cancer risk in Lynch syndrome: a review.

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.

Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients.

Reply to Win and Jenkins.

Exposure to pesticides and the risk of childhood brain tumors.

The male excess in sudden infant deaths.

Can selenium levels act as a marker of colorectal cancer risk?

Genetic variation and its role in malignancy.

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.

Genetic loci for retinal arteriolar microcirculation.

Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.

Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis.

Genome-wide analysis of blood pressure variability and ischemic stroke.

Cytokine gene polymorphism among Indigenous Australians.

Regulators of global genome repair do not respond to DNA damaging therapy but correlate with survival in melanoma.

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Genome-wide association study of endometrial cancer in E2C2.

Progesterone activates multiple innate immune pathways in Chlamydia trachomatis-infected endocervical cells.

STaRRRT: a table of short tandem repeats in regulatory regions of the human genome.

Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia.

The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome.

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.

Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.

Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors.

Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer.

Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.

Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes.

Dupuytren's disease and the risk of malignant neoplasms.

Epithelioid trophoblastic tumour simulating a high grade carcinoma.

Copy number variation in hereditary non-polyposis colorectal cancer.

The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer.

The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings.

Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study.

Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.

KRAS mutation testing of metastatic colorectal cancer in Australia: where are we at?

Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and risk of childhood brain tumors.

Genome-wide association analysis identifies six new loci associated with forced vital capacity.

Common variants of xeroderma pigmentosum genes and prostate cancer risk.

Expanding the genetic basis of copy number variation in familial breast cancer.

Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control study.

Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.

Association between endometriosis and the interleukin 1A (IL1A) locus.

Polygenic overlap between kidney function and large artery atherosclerotic stroke.

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.

Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukemia.

Identification of genome-wide SNP-SNP and SNP-clinical Boolean interactions in age-related macular degeneration.

Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses.

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

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.

Genetic overlap between diagnostic subtypes of ischemic stroke.

Paternal dietary folate, B6 and B12 intake, and the risk of childhood brain tumors.

Genetics of hand grip strength in mid to late life.

Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value.

Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors.

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Selenium as a marker of cancer risk and of selection for control examinations in surveillance.

Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1.

Thank you to all our manuscript reviewers in 2014.

Exploring the risk factors for sudden infant deaths and their role in inflammatory responses to infection.

Folate pathway gene polymorphisms and risk of childhood brain tumors: results from an Australian case-control study.

Virus Infections and Sudden Death in Infancy: The Role of Interferon-γ.

Genetic burden associated with varying degrees of disease severity in endometriosis.

Nerve fibers infiltrate the tumor microenvironment and are associated with nerve growth factor production and lymph node invasion in breast cancer.

Biobank classification in an Australian setting.

Proteotranscriptomic Profiling of 231-BR Breast Cancer Cells: Identification of Potential Biomarkers and Therapeutic Targets for Brain Metastasis.

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia.

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.

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

Genetic and Environmental Factors Affecting TNF-α Responses in Relation to Sudden Infant Death Syndrome.

CX3CR1 is dysregulated in blood and brain from schizophrenia patients.

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.

Do common genotypes of FK506 binding protein 5 (FKBP5) moderate the effects of childhood maltreatment on cognition in schizophrenia and healthy controls?

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.

Methylation of the Corticotropin Releasing Hormone Gene Promoter in BeWo Cells: Relationship to Gene Activity.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Novel genes associated with lymph node metastasis in triple negative breast cancer.

Genome-wide DNA methylation profiling of CD8+ T cells shows a distinct epigenetic signature to CD4+ T cells in multiple sclerosis patients.

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.

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.

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

MiRNAs and Other Epigenetic Changes as Biomarkers in Triple Negative Breast Cancer.

VariantSpark: population scale clustering of genotype information.

The prevalence of unique SNPs in the renin-angiotensin system highlights the need for pharmacogenetics in Indigenous Australians.

Altered neural signaling and immune pathways in peripheral blood mononuclear cells of schizophrenia patients with cognitive impairment: A transcriptome analysis.

Serum Concentrations of Selenium and Copper in Patients Diagnosed with Pancreatic Cancer.

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

Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.

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.

Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Thank you to all our manuscript reviewers in 2015.

Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract.

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.

Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome.

Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults.

Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Renin-angiotensin system gene polymorphisms and endometrial cancer.

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

A polymorphic repeat in the IGF1 promoter influences the risk of endometrial cancer.

Five endometrial cancer risk loci identified through genome-wide association analysis.

Genome-wide association study identifies 74 loci associated with educational attainment.

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.

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding.

Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia.

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

Reevaluation of RINT1 as a breast cancer predisposition gene.

Genetic risk score Mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer.

Differing Contributions of Classical Risk Factors to Type 2 Diabetes in Multi-Ethnic Malaysian Populations.