Rodney Scott

Q: What Schools Are Affiliated With Rodney Scott

Rodney Scott is affiliated with the following schools: University of California, Berkeley, University of Newcastle , University of Melbourne, Stanford University, Pomeranian Medical University in Szczecin, University of Western Australia

Rodney Scott's AcademicInfluence.com Rankings

Rodney Scott

Computer Science

#5916

World Rank

#6240

Historical Rank

Computational Linguistics

#923

World Rank

#937

Historical Rank

Machine Learning

#1748

World Rank

#1771

Historical Rank

Artificial Intelligence

#1993

World Rank

#2027

Historical Rank

computer-science Degrees

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Computer Science

Rodney Scott's Degrees

PhD Computer Science Stanford University
Masters Computer Science University of California, Berkeley
Bachelors Computer Science University of California, Berkeley

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Rodney Scott's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Biological Insights From 108 Schizophrenia-Associated Genetic Loci (2014) (6445)
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis (2011) (2511)
Genome-wide association study identifies five new schizophrenia loci (2011) (1680)
A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (2016) (1125)
Genome-wide association study identifies 74 loci associated with educational attainment (2016) (1114)
Association analysis identifies 65 new breast cancer risk loci (2017) (922)
Inflammatory subtypes in asthma: Assessment and identification using induced sputum (2006) (836)
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial (2011) (826)
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment (2013) (803)
Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome (2006) (743)
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016) (736)
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. (1998) (700)
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (2012) (678)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
Genome-Wide Association Study of Retinopathy in Individuals without Diabetes (2013) (651)
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility (2019) (589)
Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses (2016) (563)
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes (2018) (559)
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 (2009) (540)
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (2017) (517)
Clarithromycin targets neutrophilic airway inflammation in refractory asthma. (2008) (472)
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants (2015) (471)
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
Widespread white matter microstructural differences in schizophrenia across 4322 individuals: results from the ENIGMA Schizophrenia DTI Working Group (2017) (423)
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (421)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database (2013) (419)
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (2018) (417)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) (361)
Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium (2018) (343)
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) (2015) (328)
Innate immune activation in neutrophilic asthma and bronchiectasis (2007) (323)
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. (1998) (316)
Dysregulation of miRNA 181b in the temporal cortex in schizophrenia. (2008) (310)
Genome-wide association meta-analysis identifies new endometriosis risk loci (2012) (281)
Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism (2015) (276)
Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples. (2011) (268)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
Relative frequency and morphology of cancers in STK11 mutation carriers. (2004) (241)
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology (2021) (240)
The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. (2000) (239)
MicroRNAs miR-17 and miR-20a Inhibit T Cell Activation Genes and Are Under-Expressed in MS Whole Blood (2010) (235)
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (221)
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. (2004) (218)
Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells (2011) (207)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. (2001) (203)
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. (2005) (198)
Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes. (2014) (180)
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (180)
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS (2016) (174)
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. (2008) (172)
How to use an article about genetic association: B: Are the results of the study valid? (2009) (171)
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. (2016) (159)
Differential proteolytic enzyme activity in eosinophilic and neutrophilic asthma. (2005) (158)
Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli (1996) (157)
Common variants at 6p21.1 are associated with large artery atherosclerotic stroke (2012) (156)
Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo (2010) (156)
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer (2018) (149)
Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value (2015) (143)
Genome-wide association study identifies a common variant associated with risk of endometrial cancer (2011) (142)
Ischemic Stroke Is Associated with the ABO Locus: The EuroCLOT Study (2013) (142)
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (1994) (142)
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial (2020) (141)
Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis (2013) (141)
Genome-wide association analysis identifies six new loci associated with forced vital capacity (2014) (141)
Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia (2013) (140)
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. (1996) (135)
Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis (2015) (134)
The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. (2012) (129)
Cancer Risks for PMS2-Associated Lynch Syndrome. (2018) (128)
GWAS for executive function and processing speed suggests involvement of the CADM2 gene (2016) (125)
A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical setting. (2009) (122)
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. (2010) (122)
Cohort profile: The Hunter Community Study. (2010) (122)
Identification of nine new susceptibility loci for endometrial cancer (2018) (122)
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
How to use an article about genetic association: A: Background concepts. (2009) (118)
Blood‐based detection of RAS mutations to guide anti‐EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue‐based RAS testing (2017) (117)
Small Molecular Weight Variants of p53 Are Expressed in Human Melanoma Cells and Are Induced by the DNA-Damaging Agent Cisplatin (2008) (116)
The NOD2 3020insC Mutation and the Risk of Colorectal Cancer (2004) (115)
Australian Schizophrenia Research Bank: A Database of Comprehensive Clinical, Endophenotypic and Genetic Data for Aetiological Studies of Schizophrenia (2009) (113)
Epigenetically reprogrammed methylation landscape drives the DNA self-assembly and serves as a universal cancer biomarker (2018) (109)
Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia. (2012) (108)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer (2011) (106)
Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia (2006) (106)
Transcriptome Sequencing Revealed Significant Alteration of Cortical Promoter Usage and Splicing in Schizophrenia (2012) (104)
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer (2015) (103)
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) (103)
P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation (2011) (99)
Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists (2010) (98)
Germline 657del5 mutation in the NBS1 gene in breast cancer patients (2003) (97)
Phenotype-genotype correlations in a series of wolfram syndrome families. (2004) (95)
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (95)
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (95)
Cytokine responses and sudden infant death syndrome: genetic, developmental, and environmental risk factors (2005) (94)
Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. (1996) (94)
Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
Somatic deletion mapping on chromosome 10 and sequence analysis of PTEN/MMAC1 point to the 10q25-26 region as the primary target in low-grade and high-grade gliomas (1998) (92)
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. (2015) (91)
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. (1995) (90)
Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. (1997) (87)
Is hemochromatosis a risk factor for Alzheimer's disease? (2001) (87)
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. (2014) (86)
Differential gene expression and cytokine production from neutrophils in asthma phenotypes (2009) (85)
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing (2016) (83)
How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? (2009) (83)
BRCA2 gene mutations in families with aggregations of breast and stomach cancers (2002) (82)
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals (2022) (80)
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. (2018) (80)
Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells (2012) (80)
Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer (2014) (78)
Leiden open variation database of the MUTYH gene (2010) (77)
Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia. (2014) (76)
Genome-wide DNA methylation profiling of CD8+ T cells shows a distinct epigenetic signature to CD4+ T cells in multiple sclerosis patients (2015) (76)
Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE) (2012) (76)
Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status (1998) (76)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process (2014) (75)
Temozolomide induces senescence but not apoptosis in human melanoma cells (2007) (75)
Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring (2010) (75)
BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms (2009) (75)
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. (2016) (75)
Paracingulate sulcus morphology is associated with hallucinations in the human brain (2015) (74)
Altered gene expression in the superior temporal gyrus in schizophrenia (2008) (74)
Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards (2006) (74)
IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci (2010) (72)
Systemic upregulation of neutrophil α-defensins and serine proteases in neutrophilic asthma (2011) (71)
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function (2018) (71)
CDKN2A common variants and their association with melanoma risk: a population-based study. (2005) (69)
Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia (2016) (68)
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. (2013) (67)
Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk. (2010) (66)
Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis (1997) (65)
Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis (2012) (65)
A saturated map of common genetic variants associated with human height (2022) (65)
Genome-wide association meta-analysis of functional outcome after ischemic stroke (2019) (64)
The RAD51 135 G>C Polymorphism Modifies Breast Cancer and Ovarian Cancer Risk in Polish BRCA1 Mutation Carriers (2007) (64)
Five endometrial cancer risk loci identified through genome-wide association analysis (2016) (64)
The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome. (2014) (64)
Maternal Use of Folic Acid and Other Supplements and Risk of Childhood Brain Tumors (2012) (63)
Review and meta-analysis of genetic polymorphisms associated with exceptional human longevity (2018) (63)
Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks (2007) (62)
Association between endometriosis and the interleukin 1A (IL1A) locus. (2015) (62)
miRNAs and Other Epigenetic Changes as Biomarkers in Triple Negative Breast Cancer (2015) (61)
New deletion in low-grade oligodendroglioma at the glioblastoma suppressor locus on chromosome 10q25-26 (1997) (61)
Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies (2000) (60)
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts (2020) (60)
Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functional outcome: a novel finding. (2011) (59)
Breast cancer susceptibility genes. (2007) (58)
Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer. (2009) (58)
INPP4B is an oncogenic regulator in human colon cancer (2015) (57)
Altered gene expression in the amygdala in schizophrenia: Up-regulation of genes located in the cytomatrix active zone (2006) (57)
Differential methylation at MHC in CD4+ T cells is associated with multiple sclerosis independently of HLA-DRB1 (2017) (57)
An X-linked haplotype of Neandertal origin is present among all non-African populations. (2011) (57)
Colorectal carcinoma in the course of inflammatory bowel diseases (2019) (56)
Proteotranscriptomic Profiling of 231-BR Breast Cancer Cells: Identification of Potential Biomarkers and Therapeutic Targets for Brain Metastasis* (2015) (56)
Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses (2018) (56)
Toll-Like Receptor (TLR) and Nucleosome-binding Oligomerization Domain (NOD) gene polymorphisms and endometrial cancer risk (2010) (56)
ONCOSTATIN M (OSM) IS INCREASED IN ASTHMA WITH INCOMPLETELY REVERSIBLE AIRFLOW OBSTRUCTION (2009) (54)
Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication. (2013) (54)
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer (2016) (54)
Ethnicity, infection and sudden infant death syndrome. (2004) (53)
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. (2002) (53)
Xeroderma pigmentosum genes and melanoma risk (2013) (52)
Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. (1994) (51)
Interleukin-10 and sudden infant death syndrome. (2004) (51)
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology (2016) (51)
Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1 (2015) (51)
Altered expression of regulator of G-protein signalling 4 (RGS4) mRNA in the superior temporal gyrus in schizophrenia (2007) (51)
Exposure to pesticides and the risk of childhood brain tumors (2013) (51)
A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis. (2015) (50)
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2009) (50)
A Transcription Factor Map as Revealed by a Genome-Wide Gene Expression Analysis of Whole-Blood mRNA Transcriptome in Multiple Sclerosis (2010) (50)
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer (2015) (50)
Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk (2008) (49)
N-acetyltransferase 2 influences cancer prevalence in hMLH1/hMSH2 mutation carriers. (1999) (49)
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome (2010) (49)
Planning the Human Variome Project: The Spain report (2009) (48)
IL6 G-174C associated with sudden infant death syndrome in a Caucasian Australian cohort. (2006) (48)
The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women. (2008) (48)
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. (1993) (48)
STK11 status and intussusception risk in Peutz-Jeghers syndrome (2006) (48)
Serum Concentrations of Selenium and Copper in Patients Diagnosed with Pancreatic Cancer (2015) (48)
MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients (2007) (47)
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk (2014) (47)
Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations (2005) (46)
Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis; immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays (2012) (45)
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer (1999) (45)
Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. (2016) (45)
Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age (2009) (45)
The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis. (2007) (44)
Novel genes associated with lymph node metastasis in triple negative breast cancer (2015) (44)
Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia (2011) (44)
Genome-wide association study of germline variants and breast cancer-specific mortality (2019) (44)
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. (1996) (43)
LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription (2019) (43)
Smoking Related Cancers and Loci at Chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish Population (2011) (43)
Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53 (2006) (42)
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer (2003) (42)
CX3CR1 is dysregulated in blood and brain from schizophrenia patients (2015) (42)
Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. (1994) (42)
Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and the Risk of Childhood Acute Lymphoblastic Leukemia (2012) (42)
Fetal growth and risk of childhood acute lymphoblastic leukemia: results from an Australian case-control study. (2009) (42)
Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells (2016) (42)
The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings (2014) (41)
BRCA2 mutations in a population‐based series of patients with ocular melanoma (2002) (41)
Aurora‐A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer (2008) (41)
Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity (2001) (41)
Genome-wide association study of endometrial cancer in E2C2 (2013) (40)
c-Myc inactivation of p53 through the pan-cancer lncRNA MILIP drives cancer pathogenesis (2020) (40)
Use of multigene‐panel identifies pathogenic variants in several CRC‐predisposing genes in patients previously tested for Lynch Syndrome (2017) (40)
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. (2015) (39)
Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer (2012) (39)
Cell-Free DNA as a Diagnostic Blood-Based Biomarker for Colorectal Cancer: A Systematic Review. (2019) (39)
Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization (2005) (39)
VariantSpark: population scale clustering of genotype information (2015) (38)
MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk (2006) (38)
Long Term Transcriptional Reactivation of Epigenetically Silenced Genes in Colorectal Cancer Cells Requires DNA Hypomethylation and Histone Acetylation (2011) (38)
Analysis of the global methylation status of human spermatozoa and its association with the tendency of these cells to enter apoptosis (2013) (38)
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer (2010) (38)
The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer (2014) (37)
Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors (2013) (37)
Expression of renin–angiotensin system (RAS) components in endometrial cancer (2016) (37)
Genetic Overlap Between Diagnostic Subtypes of Ischemic Stroke (2015) (37)
GENETIC ANALYSIS OF ANTHERIDIOGEN SENSITIVITY IN CERATOPTERIS RICHARDII (1987) (37)
EBV and MS: Major cause, minor contribution or red-herring? (2017) (36)
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls (2015) (36)
Interleukin 1-β responses to bacterial toxins and sudden infant death syndrome (2004) (36)
Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer (2002) (36)
Can selenium levels act as a marker of colorectal cancer risk? (2013) (36)
Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci. (2014) (36)
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project (2009) (36)
Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis (1996) (36)
Genome-wide DNA methylation changes in CD19+ B cells from relapsing-remitting multiple sclerosis patients (2018) (35)
Are Myocardial Infarction–Associated Single-Nucleotide Polymorphisms Associated With Ischemic Stroke? (2012) (35)
STaRRRT: a table of short tandem repeats in regulatory regions of the human genome (2013) (35)
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population (2014) (35)
Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk (2020) (35)
Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer (2005) (35)
Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk (2014) (34)
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report (2019) (33)
Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers (2013) (33)
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes (2011) (33)
Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia. (2014) (33)
Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort. (2013) (33)
Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence (2019) (32)
IMMUNE RESPONSES OF AIRWAY NEUTROPHILS ARE IMPAIRED IN ASTHMA (2009) (32)
Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures (2014) (32)
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing (2018) (32)
Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and Risk of Childhood Brain Tumors (2014) (32)
DNA methylation profile of triple negative breast cancer-specific genes comparing lymph node positive patients to lymph node negative patients (2016) (32)
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 (2015) (32)
Gastrointestinal polyps in McCune Albright syndrome (2011) (32)
Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer (2004) (31)
The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance (2020) (31)
A polygenic resilience score moderates the genetic risk for schizophrenia (2019) (31)
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study (2012) (31)
Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility (2010) (31)
Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer (2008) (31)
Cytokine gene polymorphisms and risk for upper respiratory symptoms in highly-trained athletes. (2010) (31)
Genetic burden associated with varying degrees of disease severity in endometriosis. (2015) (30)
Common variants of xeroderma pigmentosum genes and prostate cancer risk. (2014) (30)
Increased DNA methylation of SLFN12 in CD4+ and CD8+ T cells from multiple sclerosis patients (2018) (30)
CDKN2A common variant and multi‐organ cancer risk—a population‐based study (2006) (29)
Characterization and genetic analysis of antheridiogen‐insensitive mutants in the fern Ceratopteris (1988) (29)
IGF1 is a modifier of disease risk in hereditary non‐polyposis colorectal cancer (2008) (29)
Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy. (2017) (29)
Exploring the Risk Factors for Sudden Infant Deaths and Their Role in Inflammatory Responses to Infection (2015) (29)
Parental smoking and risk of childhood brain tumors (2013) (28)
Smad4 haploinsufficiency: a matter of dosage (2008) (28)
Nucleotide excision repair gene expression after Cisplatin treatment in melanoma. (2010) (28)
Genetic Loci for Retinal Arteriolar Microcirculation (2013) (28)
German family study on hereditary breast and/or ovarian cancer: Germline mutation analysis of the BRCA1 gene (1997) (28)
Altered neural signaling and immune pathways in peripheral blood mononuclear cells of schizophrenia patients with cognitive impairment: A transcriptome analysis (2016) (27)
Genetic Polymorphisms in Xenobiotic Clearance Genes and Their Influence on Disease Expression in Hereditary Nonpolyposis Colorectal Cancer Patients (2006) (27)
Whole genome amplification and its impact on CGH array profiles (2008) (27)
Breastfeeding and Nutrition to 2 Years of Age and Risk of Childhood Acute Lymphoblastic Leukemia and Brain Tumors (2015) (27)
Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context (2015) (26)
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis (2010) (26)
Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke (2013) (26)
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer (2009) (26)
Disease expression in Swiss hereditary non‐polyposis colorectal cancer (HNPCC) kindreds (1997) (26)
Epigenome-wide association studies: current knowledge, strategies and recommendations (2021) (26)
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer (2016) (25)
DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. (2012) (25)
Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 (2018) (25)
Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: results from an Australian case–control study (2010) (25)
Hereditary conditions in which the loss of heterozygosity may be important. (1992) (25)
The male excess in sudden infant deaths (2014) (25)
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome (2019) (25)
Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer (2020) (25)
Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia (2013) (24)
Association of zinc level and polymorphism in MMP-7 gene with prostate cancer in Polish population (2018) (24)
Extracellular matrix (ECM) activates β-catenin signaling in uterine fibroids. (2018) (24)
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. (2016) (24)
Do common genotypes of FK506 binding protein 5 (FKBP5) moderate the effects of childhood maltreatment on cognition in schizophrenia and healthy controls? (2015) (24)
Detecting Genotyping Error Using Measures of Degree of Hardy-Weinberg Disequilibrium (2010) (24)
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study (2017) (24)
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients (2013) (24)
Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility (2013) (24)
Genetic Variation and its Role in Malignancy (2011) (23)
Polygenic Overlap Between Kidney Function and Large Artery Atherosclerotic Stroke (2014) (23)
Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families (2016) (23)
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. (2015) (23)
Genetic modifiers of cancer risk in Lynch syndrome: a review (2013) (23)
Detection of germline mutations in the BRCA1 gene by RNA‐based sequencing (2001) (23)
Optimization of experimental conditions for RNA‐based sequencing of MLH1 and MSH2 genes (2001) (22)
Mutations in RECQL are not associated with breast cancer risk in an Australian population (2018) (22)
Paternal impacts on development: identification of genomic regions vulnerable to oxidative DNA damage in human spermatozoa. (2019) (22)
Association of Extracolonic Manifestations of Familial Adenomatous Polyposis with Acetylation Phenotype in a Large FAP Kindred (1997) (22)
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report (2019) (22)
Genome-Wide Association Study Identifies Two Novel Genomic Regions in Irritable Bowel Syndrome (2014) (22)
Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses (2016) (22)
Microarrays--identifying molecular portraits for prostate tumors with different Gleason patterns. (2008) (22)
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. (2016) (21)
Interleukin 1-beta responses to bacterial toxins and sudden infant death syndrome. (2004) (21)
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. (2021) (21)
Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs. (2009) (21)
Renin–angiotensin system gene polymorphisms and endometrial cancer (2016) (21)
CYP1B1 and predisposition to breast cancer in Poland (2007) (21)
Partnering in Europe (2001) (20)
Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients (2005) (20)
Serum 25(OH)D concentration, common variants of the VDR gene and lung cancer occurrence (2017) (19)
The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation (2017) (19)
Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer (2007) (19)
DNA Double Strand Break Repair and its Association with Inherited Predispositions to Breast Cancer (2004) (19)
Erratum: Adolescent use of sun-protection measures (Med J. Aust. (1989) 151 (136-140)) (1992) (19)
Expanding the genetic basis of copy number variation in familial breast cancer (2014) (18)
Relationship Between APC Genotype, Polyp Distribution, and Oral Sulindac Treatment in the Colon and Rectum of Patients with Familial Adenomatous Polyposis (2001) (18)
Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults (2014) (18)
MicroRNA-16 Is Down-Regulated in Mutated FLT3 Expressing Murine Myeloid FDC-P1 Cells and Interacts with Pim-1 (2012) (18)
Reevaluation of RINT1 as a breast cancer predisposition gene (2016) (18)
Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes (2016) (18)
BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients. (1997) (18)
Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene (2006) (18)
Virus Infections and Sudden Death in Infancy: The Role of Interferon-γ (2015) (17)
Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. (2014) (17)
Endocannabinoid System as a Promising Therapeutic Target in Inflammatory Bowel Disease – A Systematic Review (2021) (17)
Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure (2015) (17)
Base excision repair and the role of MUTYH (2007) (17)
The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor (2008) (17)
Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease (2007) (17)
DNA methylation changes in CD4+ T cells isolated from multiple sclerosis patients on dimethyl fumarate (2018) (17)
Transcriptomic abnormalities in peripheral blood in bipolar disorder, and discrimination of the major psychoses (2020) (17)
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition (2015) (17)
Genetic variants in MUTYH are not associated with endometrial cancer risk (2009) (17)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
GISCOME – Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study (2017) (17)
Folate Pathway Gene Polymorphisms, Maternal Folic Acid Use, and Risk of Childhood Acute Lymphoblastic Leukemia (2014) (17)
Relationship betweenAPC genotype, polyp distribution, and oral sulindac treatment in the colon and rectum of patients with familial adenomatous polyposis (2001) (17)
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations (2016) (16)
Influence of the selenium level on overall survival in lung cancer. (2019) (16)
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status (2020) (16)
Clinical use of SNP-microarrays for the detection of genome-wide changes in haematological malignancies. (2019) (16)
Low prevalence of germline PALB2 mutations in Australian triple‐negative breast cancer (2014) (16)
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (15)
Genetics of hand grip strength in mid to late life (2015) (15)
Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. (1997) (15)
Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer? (2016) (15)
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany (2002) (15)
The 3′ untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation (2007) (14)
The NOD 2 3020 insC Mutation and the Risk of Colorectal Cancer (2004) (14)
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade. (2014) (14)
Genome-wide association study of endometrial cancer in E 2 C 2 (2014) (14)
Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses (2015) (14)
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. (2016) (14)
Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
Comparison of Three Different Methods for Determining Cell Proliferation in Breast Cancer Cell Lines. (2016) (14)
[Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling]. (1993) (14)
Genetic and Environmental Factors Affecting TNF-α Responses in Relation to Sudden Infant Death Syndrome (2015) (14)
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 (2015) (14)
Brain transcriptome perturbations in the Hfe −/− mouse model of genetic iron loading (2012) (14)
Genetically Determined Risk of Depression and Functional Outcome After Ischemic Stroke. (2019) (14)
Cytokine gene polymorphism among Indigenous Australians (2014) (14)
Evaluation of Different Normalization and Analysis Procedures for Illumina Gene Expression Microarray Data Involving Small Changes (2013) (14)
Erythrocytes in multiple sclerosis – forgotten contributors to the pathophysiology? (2016) (14)
Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin (2018) (14)
Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond (2021) (13)
Molecular patterns of cancer colonisation in lymph nodes of breast cancer patients (2018) (13)
Hereditary Cancer in Clinical Practice (2017) (13)
Association between early-onset breast and laryngeal cancers (2006) (13)
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 (2014) (13)
Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland (2008) (13)
Concordance between direct and imputed APOE genotypes using 1000 Genomes data. (2014) (13)
Germline epimutations of APC are not associated with inherited colorectal polyposis (2006) (13)
Blood cadmium levels as a marker for early lung cancer detection. (2020) (13)
The effect of a muscarinic receptor 1 gene variant on grey matter volume in schizophrenia (2015) (13)
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology (2009) (12)
Brain ageing in schizophrenia: evidence from 26 international cohorts via the ENIGMA Schizophrenia consortium (2022) (12)
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. (2013) (12)
Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk. (2012) (12)
Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360) (2017) (12)
TAPES: A tool for assessment and prioritisation in exome studies (2019) (12)
Inheritance and characterization of a dark-germinating, light-inhibited mutant in the fern Ceratopteris richardii (1991) (12)
Letter to the editor: blood processing and sample storage have negligible effects on methylation (2018) (12)
Biobank classification in an Australian setting. (2015) (12)
Integrin β3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk (2007) (12)
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients (2013) (12)
Epigenetic changes in CD8(+) T cells and CD19(+) B cells isolated from relapsing/remitting multiple sclerosis patients (2014) (12)
Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation (2013) (11)
Differing Contributions of Classical Risk Factors to Type 2 Diabetes in Multi-Ethnic Malaysian Populations (2018) (11)
Fine-mapping of the HNF 1 B multicancer locus identi fi es candidate variants thatmediate endometrial cancer risk (2015) (11)
Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract. (2016) (11)
Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes (2003) (11)
Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis. (2013) (11)
Time‐resolved proteomic profiling of cigarette smoke‐induced experimental chronic obstructive pulmonary disease (2021) (11)
Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors (2014) (11)
Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients (2015) (10)
Alteration of miRNA-mRNA interactions in lymphocytes of individuals with schizophrenia. (2019) (10)
Characterization of the early molecular changes in the glomeruli of Cd151−/− mice highlights induction of mindin and MMP-10 (2017) (10)
Regulators of Global Genome Repair Do Not Respond to DNA Damaging Therapy but Correlate with Survival in Melanoma (2013) (10)
Correction: Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo (2010) (9)
Predicting type 2 diabetes using genetic and environmental risk factors in a multi-ethnic Malaysian cohort. (2017) (9)
Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk (2020) (9)
Colorectal cancer: lessons for genetic counselling and care for families (1994) (9)
Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes (2019) (9)
Erythrocyte microRNA sequencing reveals differential expression in relapsing-remitting multiple sclerosis (2018) (9)
Dupuytren’s disease and the risk of malignant neoplasms (2014) (9)
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions. (2015) (9)
Copy number variation in triple negative breast cancer samples associated with lymph node metastasis✩✩✩ (2020) (9)
Epimutations, Inheritance and Causes of Aberrant DNA Methylation in Cancer (2006) (9)
A rare P 2 X 7 variant Arg 307 Gln with absent pore formation function protects against neuroin fl ammation in multiple sclerosis (2015) (8)
Evidence‐Based Medicine in the Era of Biomarkers: Teaching a New Dog Old Tricks? (2010) (8)
Virtual Ontogeny of Cortical Growth Preceding Mental Illness (2022) (8)
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 (2016) (8)
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
Reproductive genetics Association between endometriosis and the interleukin 1 A ( IL 1 A ) locus (2014) (8)
Re: IGF-1 gene polymorphism and risk for hereditary nonpolyposis colorectal cancer. (2006) (8)
Dihydropyrimidine Dehydrogenase Deficiency and Implementation of Upfront DPYD Genotyping (2022) (8)
Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes (2008) (8)
Nodular prurigo of the vulva. (2012) (8)
Development of an experimental model for assessing the effects of cigarette smoke and virus infections on inflammatory responses to bacterial antigens (2014) (8)
CDKN 2 A Common Variants and Their Association with Melanoma Risk : A Population-Based Study (2005) (8)
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study (2021) (8)
Germline Missense Changes in the APC Gene and Their Relationship to Disease (2004) (8)
The RAD 51 135 G > C Polymorphism Modifies Breast Cancer and Ovarian Cancer Risk in Polish BRCA 1 Mutation Carriers (2007) (8)
The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria (2006) (8)
Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case–control study (2015) (7)
Concentrations of plasma-borne extracellular particles differ between multiple sclerosis disease courses and compared to healthy controls. (2020) (7)
Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients (2020) (7)
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium (2022) (7)
Wnt receptor gene FZD1 was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort (2019) (7)
Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia (2015) (7)
Genome-wide miRNA, gene and methylation analysis of triple negative breast cancer to identify changes associated with lymph node metastases (2017) (7)
Lung Cancer Occurrence—Correlation with Serum Chromium Levels and Genotypes (2020) (7)
Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype. (2012) (7)
Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism (2008) (7)
Paternal Dietary Folate, B6 and B12 Intake, and the Risk of Childhood Brain Tumors (2015) (7)
Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer (2013) (7)
Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (2019) (7)
CDKN 2 A common variant and multi-organ cancer risk — a population-based study (2006) (7)
Identification of genome-wide SNP-SNP and SNP-clinical Boolean interactions in age-related macular degeneration. (2015) (7)
Tumour site, sex, and survival in colorectal cancer (2000) (7)
Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function (2021) (7)
Methylation of the Corticotropin Releasing Hormone Gene Promoter in BeWo Cells: Relationship to Gene Activity (2015) (7)
Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility (2021) (7)
Thyroid cancer in a patient with Lynch syndrome – case report and literature review (2017) (7)
Genetic and Environmental Modifiers of Cancer Risk in Lynch Syndrome (2018) (6)
Prognostic implications of cancer susceptibility genes: any news? (1999) (6)
Critical evaluation of linear regression models for cell-subtype specific methylation signal from mixed blood cell DNA (2018) (6)
Survival of Laryngeal Cancer Patients Depending on Zinc Serum Level and Oxidative Stress Genotypes (2021) (6)
Exceptional Longevity and Polygenic Risk for Cardiovascular Health (2019) (6)
Folate Pathway Gene Polymorphisms and Risk of Childhood Brain Tumors: Results from an Australian Case–Control Study (2015) (6)
BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population (2018) (6)
Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls (2018) (6)
Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods (2011) (6)
Profuse familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation (2004) (6)
Familial Breast and Bowel Cancer: Does It Exist? (2004) (6)
Gene Expression Profiling of Xeroderma Pigmentosum (2006) (6)
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (6)
DNA and RNA analyses in detection of genetic predisposition to cancer (2008) (6)
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
Characterization of Four Members of the Alpha-Tubulin Gene Family in Ceratopteris richardii (2007) (5)
Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the Literature (2021) (5)
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population (2020) (5)
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants (2021) (5)
Multiethnic meta-analysis identifies new loci for pulmonary function (2017) (5)
Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland (2018) (5)
Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium (2022) (5)
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects (2021) (5)
Comparison of the QuantiGene 2.0 Assay and Real-Time RT-PCR in the Detection of p53 Isoform mRNA Expression in Formalin-Fixed Paraffin-Embedded Tissues- A Preliminary Study (2016) (5)
Clinical and epidemiological features of familial laryngeal cancer in Poland. (2007) (5)
Influence of the Levels of Arsenic, Cadmium, Mercury and Lead on Overall Survival in Lung Cancer (2021) (5)
Detection of complex genomic signatures associated with risk in plasma cell disorders. (2017) (5)
8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome (2011) (5)
Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. (2016) (4)
Presymptomatic DNA Testing in BRCA1/2. Invited reactions from the field on the van Oostrom and Tibben paper (2004) (4)
Promoter Methylation Pattern Controls Corticotropin Releasing Hormone Gene Activity in Human Trophoblasts (2017) (4)
Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions (2021) (4)
DNA MISMATCH REPAIR AND HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (1997) (4)
BRCA1 mutations found in archived early onset breast tumours. (1997) (4)
Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort. (2020) (4)
Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families (2004) (4)
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1 (2017) (4)
Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them? (2005) (4)
Selenium as a marker of cancer risk and of selection for control examinations in surveillance (2015) (4)
Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. (2007) (4)
Prevalence of clinically actionable genotypes and medication exposure of older adults in the community (2017) (4)
Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome. (2008) (4)
Report to the Blood Service: Behavioural Donor Deferral Criteria Review (2014) (4)
Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk (2014) (4)
Erythrocyte microRNAs show biomarker potential and implicate multiple sclerosis susceptibility genes (2020) (4)
Smoking Related Cancers and Loci at Chromosomes 15 q 25 , 5 p 15 , 6 p 22 . 1 and 6 p 21 . 33 in the Polish Population (2011) (4)
The influence of infection on cytokine gene polymorphisms in evolution (2006) (4)
Genetic epidemiology studies in hereditary non-polyposis colorectal cancer. (2009) (4)
Reply to: New Meta- and Mega-analyses of Magnetic Resonance Imaging Findings in Schizophrenia: Do They Really Increase Our Knowledge About the Nature of the Disease Process? (2019) (4)
A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the Identification of 9 New Mutations Previously Unidentified by DGGE (2003) (4)
Genomic integrity in the male germ line: evidence in support of the disposable soma hypothesis. (2018) (4)
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. (1996) (4)
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 (2016) (3)
Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis (2014) (3)
Gene Expression Profiling of Human Myeloid Leukemic MV4-11 Cells Treated with 5-Aza-2’-deoxycytidine (2012) (3)
Evaluating the associations between obesity and age-related cataract: a Mendelian randomization study. (2019) (3)
Low-risk Genes and Multi-organ Cancer Risk in the Polish Population (2006) (3)
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer (2016) (3)
The Role of Modifier Genes in Lynch Syndrome (2012) (3)
Informed consent and BRCA1 mutation detection in archived breast tumour specimens (1996) (3)
The prevalence of unique SNPs in the renin‐angiotensin system highlights the need for pharmacogenetics in Indigenous Australians (2016) (3)
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk (2020) (3)
CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis (2018) (3)
High polygenic risk score for exceptional longevity is associated with a healthy metabolic profile (2022) (2)
Pollen Tube Formation and the Central Dogma of Biology (2004) (2)
Gene expression profiles in whole blood and associations with metabolic dysregulation in obesity. (2017) (2)
Hereditary Cancer in Clinical Practice transfers to BioMed Central (2009) (2)
Clinical characteristics of tumors derived from colorectal cancer patients who harbor the tumor necrosis factor alpha-1031T/T and NOD2 3020insC polymorphism. (2009) (2)
Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer? (2010) (2)
First recurrent large genomic rearrangement in the BRCA1 gene found in Poland. (2014) (2)
Case Report: Familial Gastric Cancer and Chordoma in the Same Family (2005) (2)
A negative regulator of T-cell activation, SOCS6, is up-regulated in response to decreased microRNA expression in SPMS CD4+T-cells (2016) (2)
Modifier genes and Lynch syndrome: some considerations (2022) (2)
[Tumor diseases in families of 600 breast cancer patients with special reference to familial adenocarcinomatosis and the Li-Fraumeni-/SBLA syndrome]. (1992) (2)
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype (2021) (2)
Somatic‐gonadal mosaicism causing Sotos syndrome (2016) (2)
Advances in Brief N-acetyltransferase 2 Influences Cancer Prevalence in hMLH 1 / hMSH 2 Mutation Carriers 1 (1999) (2)
Relating Body and Soul: Insights from Development and Neurobiology (2012) (2)
A Simple Migration/Invasion Workflow Using an Automated Live-cell Imager. (2019) (2)
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population (2020) (2)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2019) (2)
Profuse familial adenomatous polyposis with an APC exon 3 mutation (2001) (2)
Familial association of laryngeal, lung, stomach and early-onset breast cancer (2008) (2)
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing (2022) (2)
Deletion Mutations in an Australian Series of HNPCC Patients (2005) (2)
Intronic TP 53 Germline Sequence Variants Modify the Risk in German Breast / Ovarian Cancer Families (2015) (2)
The intron 3 16 bp duplication polymorphism of p53 (rs17878362) is not associated with increased risk of developing triple-negative breast cancer (2018) (2)
Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis (2014) (2)
Genetics, Mucosal Inflammation, and the Environment in Post-Infectious Chronic Gut Syndromes (2016) (2)
Mind Over Matter: Confronting Challenges in Post-Mortem Brain Biobanking for Glioblastoma Multiforme (2021) (2)
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (2)
Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
Sertraline hydrochloride for reducing impulsive behaviour in male, repeat-violent offenders (ReINVEST): protocol for a phase IV, double-blind, placebo-controlled, randomised clinical trial (2021) (2)
Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning (2022) (2)
Genetically informed precision drug repurposing for lung function and implications for respiratory infection (2020) (2)
Exposure to pesticides and the risk of childhood brain tumors (2013) (2)
Spontanremissionen bei Krebserkrankungen. Internationales Symposium 17.-19. April 1997, Heidelberg (1997) (1)
Aalborg Universitet Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis ; A prospective Lynch syndrome database report (2019) (1)
Molecular Phenotypes Of Asthma Defined By Gene Expression Profiling (2010) (1)
P3-230: Alterations in the expression of genes important in Alzheimer's disease (APP, presenilin 1, tau) in the HFE knockout mouse model of the iron disorder hemochromatosis (2008) (1)
THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): QUALITY ASSURANCE AND CONTROL FOR A COMPREHENSIVE CLINICAL, NEUROPSYCHOLOGICAL, GENETIC AND NEUROIMAGING DATABASE FOR RESEARCHERS (2010) (1)
MicroRNA sequencing identifies four down-regulated microRNAs in CD4+T-cells of secondary progressive multiple sclerosis patients (2015) (1)
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients (2013) (1)
Can selenium levels act as a marker of colorectal cancer risk? (2013) (1)
Genetic Susceptibility to Triple‐Negative Breast Cancers (2014) (1)
Finding Needles in Haystacks: The Use of Quantitative Proteomics for the Early Detection of Colorectal Cancer (2018) (1)
Identification of nine new susceptibility loci for endometrial cancer (2018) (1)
Genetic testing: a round table conversation (2004) (1)
Induced sputum differential gene expression implicates increased p38 signalling activity in severe asthma (2011) (1)
P-273Concordance of RAS mutation status in CRC patients by comparison of results from circulating tumour DNA and tissue-based testing (2015) (1)
Whole-blood methylation signatures are associated with and accurately classify multiple sclerosis disease severity (2022) (1)
MSH 6 and PMS 2 mutation positive Australian Lynch syndrome families : novel mutations , cancer risk and age of diagnosis of colorectal cancer (2010) (1)
Genome-wide association study of germline variants and breast cancer-speci fi c mortality (2019) (1)
Identiﬁcation of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (1)
KRAS mutation testing in colorectal cancer: the model for molecular pathology testing in the future (2016) (1)
Expanding the genetic basis of copy number variation in familial breast cancer (2014) (1)
Survival of bladder or renal cancer in patients with CHEK2 mutations (2020) (1)
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients (2013) (1)
Cancer genes: Functional aspects (1997) (1)
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants (2022) (1)
Abstract 13: A Locus on Chromosome 6p21 is Associated with Large Artery Atherosclerotic Ischemic Stroke (2012) (1)
Genetic feedback to reduce alcohol consumption in hospital outpatients with risky drinking: feasibility and acceptability. (2016) (1)
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report (2019) (1)
Serum concentrations of Cu, Se, Fe and Zn in patients diagnosed with pancreatic cancer (2015) (1)
The NSW & ACT Hereditary Cancer Registers. (2005) (1)
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population (2014) (1)
Dupuytren’s disease and the risk of malignant neoplasms (2014) (1)
CHAPTER 22:Selenium and Cancer (2015) (1)
HEREDITARE MOTORISCH-SENSIBLE NEUROPATHIEN (1995) (1)
It Support for the Australian Schizophrenia Research Bank (2009) (1)
Electro-Oculographic and Electroretinographic Studies in HNPCC Gene Mutation Carriers (2003) (1)
Fine-mapping of the HNF1Bmulticancer locus identifies candidate variants thatmediate endometrial cancer risk (2015) (1)
A Protein Truncation Test for BRCA1 (1996) (1)
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients (2021) (1)
A polymorphic repeat in the IGF1 promoter influences the risk of endometrial cancer (2016) (1)
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function (2018) (1)
breast / ovarian cancer patients . BRCA 1 mutations in a selected series of (1)
Potential Clinically Significant Drug and Gene Interactions Involving Cytochrome P450 Family 2 Subfamily D Member 6 (CYP2D6) Relevant to Opioids Used for Chronic Pain in Community-dwelling Older Australians (2018) (0)
The Australian Schizophrenia Research Bank (ASRB) computer-based Clinical Assessment Software (CAS): Development and application (2008) (0)
Erratum: BRCA2 mutations in a population-based series of patients with ocular melanoma (International Journal of Cancer (2003) 102 (188-191)) (2003) (0)
Genetic insights into breast cancer risk (2015) (0)
Poster #M102 TRANSCRIPTOME ANALYSIS REVEALS DOWN-REGULATED SIGNAL TRANSDUCTION PATHWAYS IN PERIPHERAL BLOOD MONONUCLEAR CELLS FROM SCHIZOPHRENIA PATIENTS WITH COGNITIVE IMPAIRMENT (2014) (0)
Polyspermy in apomictic Crataegus : yes and (0)
Low Blood-As Levels and Selected Genotypes Appears to Be Promising Biomarkers for Occurrence of Colorectal Cancer in Women (2021) (0)
The curious case of a woman with two BRCA1 mutations in trans (2015) (0)
THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): AN EXAMPLE OF ERESEARCH (2010) (0)
Abstract P6-10-26: Identification of copy number variation associated with lymph node metastasis in triple negative breast cancer (2020) (0)
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Commentary (2008) (0)
Increased erythrocyte microRNA-183 cluster expression during relapse - A potential new MS-specific marker for disease activity? (2019) (0)
Advances in Brief The NOD 2 3020 insC Mutation and the Risk of Colorectal Cancer (2004) (0)
Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018) (2019) (0)
Poster #S143 INTERACTIVE EFFECTS OF FKBP5 AND CHILDHOOD TRAUMA ON COGNITION IN SCHIZOPHRENIA (2014) (0)
BRCA1 AND BRCA2 MUTATION DETECTION IN A SELECTED SERIES OF BREAST CANCER PATIENTS (1996) (0)
Epigenome-wide association studies: current knowledge, strategies and recommendations (2021) (0)
Are the Results of the Study Valid ? How to Use an Article About Genetic Association : B : Correction (2009) (0)
Overview of genetic markers for hereditary colorectal cancer (2012) (0)
939: A highly polymorphic AG repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is a modifier of disease risk in endometrial cancer (2014) (0)
Title Page / Contents / Preface / Acknowledgements / Sponsors of the Conference and the Proceedings (1996) (0)
Modifier genes and Lynch syndrome: some considerations (2022) (0)
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers (2021) (0)
HD-SNP Microarray Analysis of the Study 9 High Risk ALL Patients—Increased Yield of Important Prognostic Information (2017) (0)
Invited commentary (2001) (0)
An overview of the Australian schizophrenia research bank: Linking brain function and structure with genetics in a large sample of schizophrenia cases and controls (2007) (0)
Informed consent and BRCA1 mutation detection in archived breast tumor specimens. (1996) (0)
Issues preventing the migration of the Australian Schizophrenia Research Bank to the cloud (2012) (0)
DNA mismatch repair genes and hereditary non‐polyposis colorectal cancer (2004) (0)
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health. (2023) (0)
Erratum to: 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 (2014) (0)
Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors (2012) (0)
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) (0)
Genome-wide association analysis identifies six new loci associated with forced vital capacity | NOVA. The University of Newcastle's Digital Repository (2014) (0)
Altered gene expression in nucleotide excision repair deficient fibroblasts after UV-light exposure. (2008) (0)
IDENTIFICATION OF NOVEL TRANSCRIPTS SPECIFIC TO TRIPLE NEGATIVE BREAST CANCER THAT ARE ASSOCIATED WITH LYMPH NODE METASTASIS (2014) (0)
IT Development and Management of a Live e-Research System - Experiences with the Australian Schizophrenia Research Bank (2012) (0)
Thank you to all our manuscript reviewers in 2015 (2016) (0)
Poster #S132 COPY NUMBER VARIANT ANALYSIS ON 401 CASES OF SCHIZOPHRENIA: A SEARCH FOR CAUSAL GENES FINDS DISRUPTION IN THE NEUROGENESIS REGULATOR JAGGED 2 (2014) (0)
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report (2019) (0)
Microarray analysis of brain expression changes for genes relating to Alzheimer's disease and other neurodegenerative disorders in mouse models of iron overload (2010) (0)
Stress and HPA axis functioning in first-episode psychosis: Neurocognitive effects on relational memory (2008) (0)
Familial Adenomatous Polyposis: Current Status in Switzerland (1992) (0)
Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium (2020) (0)
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition (2014) (0)
Genome-wide association study of germline variants and breast cancer-speci ﬁ c mortality (2019) (0)
The long term impact of resistant starch on cancer risk in carriers of hereditary colorectal cancer:the CAPP2 Randomised Controlled Trial (2012) (0)
Gene profiling in the amygdala in schizophrenia (2004) (0)
Genome-wide association study of endometrial cancer in E2C2 (2013) (0)
Nuclear Pedigree Criteria for the Identification of Individuals Suspected to Be at Risk of an Inherited Predisposition to Gastric Cancer (2004) (0)
Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors (2014) (0)
SHORT REPORT CDKN2A common variant and multi-organ cancer risk—a population-based study (2006) (0)
Cancer esearch cular and Cellular Pathobiology leotide Excision Repair Gene Expression after Cisplatin R atment in Melanoma (2010) (0)
MATERNAL CONSUMPTION OF COFFEE AND TEA DURING PREGNANCY AND RISK OF CHILDHOOD ALL: RESULTS FROM AN AUSTRALIAN CASE-CONTROL STUDY (2011) (0)
Erratum: COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (British Journal of Cancer 102 (447-454) DOI: 10.1038/sj.bjc.6605338)) (2010) (0)
Poster #102 COMT GENOTYPE MODULATES THE EFFECTS OF CHILDHOOD ADVERSITY ON COGNITION AND SYMPTOMS IN SCHIZOPHRENIA (2012) (0)
Thank you to all our manuscript reviewers in 2015 (2016) (0)
Detection ofnew mutations insixoutof10 SwissHNPCC families bygenomicsequencing ofthehMSH2 andhMLH1 genes (2011) (0)
Genome-wide association meta-analysis identifies new endometriosis risk loci | NOVA. The University of Newcastle's Digital Repository (2012) (0)
The expression of Dicer or Drosha is not associated with lymph node metastases in triple negative breast can cer (2013) (0)
Thank you to all our manuscript reviewers in 2014 (2015) (0)
134: The role of Delta-40p53 and p53 in Estrogen Receptor-a signalling pathways in breast cancer (2014) (0)
Abstract 230: Joint genome-wide association study of endometrial cancer and ovarian cancer identifies a novel genetic risk region at 14q23.3 (2018) (0)
Erythrocyte microRNA sequencing reveals differential expression in relapsing-remitting multiple sclerosis (2018) (0)
Abstract 3938: Altered nucleotide excision repair gene expression after cisplatin treatment in melanoma (2010) (0)
Downstream effects of reduction in nucleotide excision repair in response to cisplatin treatment in melanoma (2011) (0)
Mutations in RECQL are not associated with breast cancer risk in an Australian population (2018) (0)
Letter to the editor: blood processing and sample storage have negligible effects on methylation (2018) (0)
Meeting abstracts from the Annual Conference on Hereditary Cancers 2015 (2017) (0)
Supplementary_files_of_GWAS_of_schizophrenia_684indiv_EUR_3covariates_v3-revised_v1 – Supplemental material for Wnt receptor gene FZD1 was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort (2019) (0)
Differential methylation at MHC in CD4+ T cells is associated with multiple sclerosis independently of HLA-DRB1 (2017) (0)
CTNNB1 exon 3 mutations in desmoid and other tumours (2021) (0)
Contents Vol. 113, 2006 (2006) (0)
Response to “Variability in the clinical phenotype among families with HNPCC”: The potential importance of the location of the mutation in the gene by Dr. Prathap Bandipalliam (2007) (0)
Pharmacogenomics in the era of personalised medicine (2022) (0)
NOTES S . III . 2 . Selenium and cancer (2015) (0)
Vitamin D receptor variants and the malignant melanoma risk: a population-based study | NOVA. The University of Newcastle's Digital Repository (2009) (0)
Genetics of hand grip strength in mid to late life (2015) (0)
Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (0)
Poster #177 THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BIOBANK (ASRB): AN AUDIT OF THE FIRST FIVE-YEARS OF RECRUITMENT RESOURCE ACCESS (2012) (0)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2019) (0)
The clinical laboratory’s journey towards accreditation in diagnostic genomics (2013) (0)
Poster #113 COMT MODULATES THE EFFECTS OF LIFETIME CANNABIS USE ON COGNITION AND SYMPTOM PROFILES IN SCHIZOPHRENIA (2012) (0)
Age at first birth in women is genetically associated with increased risk of schizophrenia (2018) (0)
Bladder cancer survival in patients with NOD2 or CDKN2A variants (2022) (0)
Poster #114 GENOME-WIDE SUPPORTED VARIANTS (MIR137) PREDICTS MEMBERSHIP OF A COGNITIVE SUBTYPE OF SCHIZOPHRENIA (2012) (0)
Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (2019) (0)
Genetic Testing Redefines Hereditary Nonpolyposis Colon Cancer (1996) (0)
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals (2018) (0)
Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes (2021) (0)
Schizophrenia and Cognitive Dysfunction Associated with the Estrogen Receptor 1 Genotype (2016) (0)
STaRRRT: a table of short tandem repeats in regulatory regions of the human genome (2013) (0)
Saliva-derived DNA performs well in large-scale, high-density SNP microarray studies (2011) (0)
The Involvement of Programmed Cell Death in the Phenotypic Expression of Ataxia telangiectasia (1996) (0)
Author response: Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function (2021) (0)
identifies 148 independent genetic loci influencing general cognitive function Permalink (2018) (0)
Author ' s response to reviews Title : Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer (2013) (0)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
VariantSpark: population scale clustering of genotype information (2015) (0)
Serum concentrations of Cu, Se, Fe and Zn in patients diagnosed with pancreatic cancer (2015) (0)
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study (2021) (0)
Erratum: Ischemic stroke is associated with the ABO locus: The EuroCLOT study (2014) (0)
Author ' s response to reviews Title : Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer (2013) (0)
Multi-tissue transcriptome-wide association study identifies genetic mechanisms underlying endometrial cancer susceptibility (2020) (0)
Epidemiology of Colorectal Cancer: Questions Answered and Questions Remaining (1996) (0)
Minor methylation differences at various loci in CD8+T-Cells are associated with multiple sclerosis (2015) (0)
[Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects]. (1995) (0)
Abstract P2-07-05: Prevalence of germline BRCA1 and BRCA2 mutations in triple-negative breast cancer patients unselected for family history (2013) (0)
The Australian schizophrenia research bank (ASRB): The first 550 schizophrenia sample profile (2011) (0)
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci | NOVA. The University of Newcastle's Digital Repository (2011) (0)
Colorectal carcinoma in the course of inflammatory bowel diseases (2019) (0)
Explorer COGENT ( COlorectal cancer GENeTics ) : an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2017) (0)
Title: Genome-wide Scan for Colorectal Cancer Susceptibility Genes Confirms Linkage to Chromosome 3q (0)
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (2018) (0)
Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke Clinical Sciences (2013) (0)
Correction: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses (2016) (0)
Common variants in breast cancer risk loci predispose to distinct tumor subtypes (2022) (0)
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2018) (0)
Connectome architecture shapes large-scale cortical reorganization in schizophrenia: a worldwide ENIGMA study (2023) (0)
Evaluation of Integrating HD-SNP Microarray Into the Workflow for CLL and MM: Challenges and Culture Changes (2017) (0)
Familial Cancer : First International Research Conference on Familial Cancer, Basel, September 16-21, 1985 (1985) (0)
Poster #M175 GENE SET ENRICHMENT OF DIFFERENTIAL EXPRESSION AND SPLICING ANALYSIS BY RNA-SEQ IN POSTMORTEM DLPFC AND PBMCS IN SCHIZOPHRENIA (2014) (0)
A GENOME-WIDE META-ANALYSIS OF PLASMA CLUSTERIN LEVELS IN THE CHARGE CONSORTIUM (2014) (0)
The Australian Schizophrenia Research Bank (Asrb): the Development of An Electronically Delivered Clinical Assessment Battery (2009) (0)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
83 Colorectal cancer susceptibility loci on chr 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome (2010) (0)
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations (2023) (0)
Hunter Cancer Research Alliance Annual Symposium 2015. (2015) (0)
49-P: A CUT-OFF FOR ANTIBODY STRENGTH TO PERFORM VIRTUAL CROSSMATCH AT KFHSD-DAMMAM: ASSESSMENT OF PREDICTIVE POTENTIAL OF A SOLID PHASE ASSAY IN PREDICTING CDC-AHG CROSSMATCHES (2012) (0)
Optical genome mapping using Bionano: A comparative study of genomic changes in haematological malignancies performed at the John Hunter hospital (2022) (0)
Gene Expression Profiling of Human Myeloid Leukemic MV 4-11 Cells Treated with 5-Aza-2 ’-deoxycytidine (2013) (0)
Altered expression of brain related genes in lymphocytes in schizophrenia (2004) (0)
Reply to Vasen et al. (2001) (0)
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls (2015) (0)
5-P: LUMINEX SAB FAILS TO PREDICT FCXM AND CDC-XM RESULTS BY PRESENTING A DONOR SPECIFIC ANTIBODY WITH LOWER MFI (2013) (0)
Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information? (2018) (0)
DNA and RNA analyses in detection of genetic predisposition to cancer (2012) (0)
hMLH 1 mutation . an extended HNPCC family with an ancestral Complex genetic predisposition to cancer in (0)
429: Targeted next-generation sequencing - Identification of Lynch syndrome cases (2014) (0)
THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): DEMOGRAPHIC, CLINICAL AND NEUROPSYCHOLOGICAL PROFILES FOR THE FIRST 500 PARTICIPANTS WITH SCHIZOPHRENIA (2010) (0)
Correction: 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 (2022) (0)
[Tumor suppressor gen mutation in the germ line: its significance in familial and sporadic tumors]. (1995) (0)
Parity is associated with long-term differences in DNA methylation at genes related to neural plasticity in multiple sclerosis (2023) (0)
Meeting abstracts from the Annual Conference on Hereditary Cancers 2015 (2017) (0)
PGPM_A_337147 1603..1617 (2021) (0)
The curious case of a woman with two BRCA1 mutations in trans (2015) (0)
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 (2016) (0)
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (0)
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (0)
Reply to Win and Jenkins (2013) (0)
Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women (2023) (0)
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 (2015) (0)
Microsatellite instability testing in MMR-deficient endometrial cancer: Are we using the right markers? (2022) (0)
Genome-wide association study of germline variants and breast cancer-specific mortality (2019) (0)
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 (2013) (0)
Erratum to: Exposure to pesticides and the risk of childhood brain tumors (2014) (0)
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers (2021) (0)
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry (2023) (0)
Title Genome-Wide Association Study of Retinopathy in Individualswithout Diabetes (2013) (0)
Genetic insights into breast cancer risk (2015) (0)
Thank you to all our manuscript reviewers in 2014 (2015) (0)
Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts (2012) (0)
Correction: 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 (2022) (0)
Verification and Validation of a Four-Gene Panel as a Prognostic Indicator in Triple Negative Breast Cancer (2022) (0)
Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts (2012) (0)
miR-29b: microRNA biogenesis and dysregulation meets DNA hypermethylation in SPMS (2017) (0)
Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer (2022) (0)
Sputum gene expression of mast cell tryptase and carboxypeptidase A3 are increased in eosinophilic asthma (2011) (0)
Preliminary Studies of the Prevalence and Possible Clinical Consequences of Potential Simple and Multifactorial Drug and Gene Interactions of Anti-depressants in Older Australians (2018) (0)
Genome-wide DNA methylation profiling of CD8+ T cells shows a distinct epigenetic signature to CD4+ T cells in multiple sclerosis patients (2015) (0)
130: Eight microRNAs as biomarkers for metastatic spread in triple negative breast cancer (2014) (0)
Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models (2021) (0)
The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation (2017) (0)
VKučinskas-2001-2016 (2016) (0)
Overview of genetic markers for hereditary colorectal cancer (2012) (0)
Prenatal Smoking and Risk of Childhood Acute Lymphoblastic Leukemia (2011) (0)
Supplementary INPP4B is an oncogenic regulator in human colon cancer (2015) (0)
Characterising the genetic risk for type 2 diabetes in a Malaysian multi- ethnic cohort Running head: Type 2 diabetes genetics in Malaysia (2016) (0)
Abstract LB-237: Human and microbial transcriptomics from lean and obese individuals with colorectal cancer: A comparison of Total and Poly A RNA sequencing from clinical samples. (2013) (0)
Erratum (2012) (0)
The Australian Schizophrenia Research Bank (ASRB): Demographic, clinical and neuropsychological profile of participants with schizophrenia (2010) (0)
OP-JNCI200057 329..337 (2021) (0)
Abstract P4-10-02: Targeted resequencing of BRCA1 and BRCA2 in inherited breast cancer (2012) (0)
BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma (2011) (0)
Classification of schizophrenia using differential gene expression in peripheral blood lymphocytes (2005) (0)
Mutations in the APC Gene and the Related Phenotypes of Swiss Patients with Familial Adenomatous Polyposis (1996) (0)
Hereditary cancer : Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995 (1996) (0)
Abstract P2-09-02: Panel testing for familial breast cancer: Tension at the boundary of research and clinical care (2016) (0)
Genetic modifiers of cancer risk in Lynch syndrome: a review (2013) (0)
Ischemic Stroke? Associated Single-Nucleotide Polymorphisms Associated With - Are Myocardial Infarction (2012) (0)
Xeroderma pigmentosum genes and melanoma risk | NOVA. The University of Newcastle's Digital Repository (2013) (0)
Genetic Data for Aetiological Studies of Schizophrenia Australian Schizophrenia Research Bank: A Database of Comprehensive Clinical, Endophenotypic and (2013) (0)
How common is hereditary cancer? (1994) (0)
Erratum to: Exposure to pesticides and the risk of childhood brain tumors (2014) (0)
Meta-Analysis of GWA Studies Identifies New Endometriosis Risk Loci (2013) (0)
The P2X7 receptor: Interaction with a HLA Class II allele which modulates the autoantibody response in Multiple Sclerosis (2012) (0)
[Familial colorectal and breast carcinoma--genetic counseling and presymptomatic diagnosis]. (1995) (0)
Genetic markers in breast cancer - how far have we come from BRCA1? (2011) (0)
The contribution of rare variants, polygenic risk, and novel candidate genes to the hereditary risk of breast cancer in a large cohort of Breast Cancer families (2018) (0)
FKBP5 variant moderates effects of childhood adversity in schizophrenia (2016) (0)
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | NOVA. The University of Newcastle's Digital Repository (2014) (0)
Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer (2021) (0)
Gastrointestinal polyps in McCune Albright syndrome | NOVA. The University of Newcastle's Digital Repository (2011) (0)
Genome wide analysis of DNA copy number in schizophrenia reveals loss of heterozygosity on chromosome 6P22.1 and 16P11.2-11.1 (2010) (0)
16. Australian AIEOP-BFM 2009 acute lymphoblastic leukaemia high-risk findings – Enrichment of IKZF1 deletions and other curious findings (2018) (0)
#RAREvolution - Stand up for Scientific Research on Rare Diseases (2018) (0)
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects (2021) (0)
Erratum to: 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 (2014) (0)
Epithelioid trophoblastic tumour simulating a high grade carcinoma. (2014) (0)
Fetal growth and risk of childhood acute lymphoblastic leukemia: results from an Australian case-control study | NOVA. The University of Newcastle's Digital Repository (2009) (0)
Dietary intake of Mute Swans, Cygnus olor, in relation to reproduction on the lower Great Lakes (2008) (0)
SLCO1B1 gene, statin use and incidence of age-related cataract: The Blue Mountains Eye Study (2017) (0)
Abstract 3944: Base excision repair and gene expression profiling in malignant melanoma (2010) (0)
[Genetic studies in neurology]. (1997) (0)
CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis (2018) (0)
Genome-wide association study of endometrial cancer in E2C2 access benefits you. Your story matters (2014) (0)
Abstract PD1-04: The contribution of rare variants, polygenic risk, and novel candidate genes to the hereditary risk of breast cancer in a large cohort of breast cancer families (2018) (0)
Health and ageing data from the Hunter Community Study, NSW, Australia | NOVA. The University of Newcastle's Digital Repository (2011) (0)
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2010) (0)
Title COGENT ( COlorectal cancer GENeTics ) : An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2009) (0)

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