| 1 | Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers | 1.4 | 5 | Citations (PDF) |
| 2 | Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer | 1.4 | 0 | Citations (PDF) |
| 3 | Blood and Serum Copper and Zinc Levels and 10-Year Survival of Patients After Kidney Cancer Diagnosis | 3.2 | 4 | Citations (PDF) |
| 4 | GWAS meta-analysis identifies five susceptibility loci for endometrial cancer | 6.6 | 4 | Citations (PDF) |
| 5 | The Prognostic Utility of KRAS Mutations in Tissue and Circulating Tumour DNA in Colorectal Cancer Patients | 0.9 | 2 | Citations (PDF) |
| 6 | Connectome architecture shapes large-scale cortical alterations in schizophrenia: a worldwide ENIGMA study | 5.2 | 52 | Citations (PDF) |
| 7 | Correlation between Selenium and Zinc Levels and Survival among Prostate Cancer Patients | 3.2 | 17 | Citations (PDF) |
| 8 | Using Genetics to Inform Interventions Related to Sodium and Potassium in Hypertension | 13.1 | 9 | Citations (PDF) |
| 9 | Where does multiple sclerosis come from? | 1.4 | 0 | Citations (PDF) |
| 10 | Blood Cadmium Level Is a Marker of Cancer Risk in Men | 3.2 | 11 | Citations (PDF) |
| 11 | Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers | 3.2 | 10 | Citations (PDF) |
| 12 | Selenium and Arsenic Levels, Prevalence of Common Variants of Genes Involved in Their Metabolism, and Psoriasis Disease | 2.5 | 4 | Citations (PDF) |
| 13 | Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers | 4.6 | 12 | Citations (PDF) |
| 14 | Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers | 3.2 | 4 | Citations (PDF) |
| 15 | Folate Metabolism and Risk of Childhood Acute Lymphoblastic Leukemia: A Genetic Pathway Analysis from the Childhood Cancer and Leukemia International Consortium | 0.6 | 1 | Citations (PDF) |
| 16 | Antioxidant Properties of Zinc and Copper—Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers | 4.6 | 20 | Citations (PDF) |
| 17 | Cobalt Serum Level as a Biomarker of Cause-Specific Survival among Prostate Cancer Patients | 2.7 | 6 | Citations (PDF) |
| 18 | Blood and Serum Se and Zn Levels and 10-Year Survival of Patients after a Diagnosis of Kidney Cancer | 2.5 | 6 | Citations (PDF) |
| 19 | Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing | 2.2 | 4 | Citations (PDF) |
| 20 | The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis | 1.3 | 10 | Citations (PDF) |
| 21 | Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium | 5.2 | 82 | Citations (PDF) |
| 22 | Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women | 1.6 | 1 | Citations (PDF) |
| 23 | Evaluation of epigenetic methylation biomarkers for the detection of colorectal cancer using droplet digital PCR | 2.7 | 9 | Citations (PDF) |
| 24 | Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing | 1.3 | 7 | Citations (PDF) |
| 25 | DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes | 3.2 | 12 | Citations (PDF) |
| 26 | Evaluation of a Multi-Gene Methylation Blood-Test for the Detection of Colorectal Cancer | 2.1 | 1 | Citations (PDF) |
| 27 | Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer | 4.7 | 1 | Citations (PDF) |
| 28 | Rare germline copy number variants (CNVs) and breast cancer risk | 3.1 | 14 | Citations (PDF) |
| 29 | Common variants in breast cancer risk loci predispose to distinct tumor subtypes | 3.4 | 29 | Citations (PDF) |
| 30 | Microsatellite instability testing in MMR-deficient endometrial cancer: Are we using the right markers? | 1.4 | 0 | Citations (PDF) |
| 31 | Virtual Ontogeny of Cortical Growth Preceding Mental Illness | 3.8 | 36 | Citations (PDF) |
| 32 | Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals | 14.1 | 619 | Citations (PDF) |
| 33 | Verification and Validation of a Four-Gene Panel as a Prognostic Indicator in Triple Negative Breast Cancer | 1.7 | 4 | Citations (PDF) |
| 34 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia | 30.6 | 2,685 | Citations (PDF) |
| 35 | Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models | 1.8 | 3 | Citations (PDF) |
| 36 | Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning | 5.2 | 19 | Citations (PDF) |
| 37 | Modifier genes and Lynch syndrome: some considerations | 1.4 | 7 | Citations (PDF) |
| 38 | Brain ageing in schizophrenia: evidence from 26 international cohorts via the ENIGMA Schizophrenia consortium | 5.2 | 125 | Citations (PDF) |
| 39 | Whole-blood methylation signatures are associated with and accurately classify multiple sclerosis disease severity | 3.0 | 24 | Citations (PDF) |
| 40 | Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers | 0.6 | 22 | Citations (PDF) |
| 41 | Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk | 3.2 | 56 | Citations (PDF) |
| 42 | Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer | 2.8 | 56 | Citations (PDF) |
| 43 | The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance | 2.8 | 98 | Citations (PDF) |
| 44 | Blood cadmium levels as a marker for early lung cancer detection | 2.3 | 51 | Citations (PDF) |
| 45 | CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC | 1.4 | 3 | Citations (PDF) |
| 46 | A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts | 3.8 | 194 | Citations (PDF) |
| 47 | Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology | 14.1 | 1,502 | Citations (PDF) |
| 48 | Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects | 4.7 | 21 | Citations (PDF) |
| 49 | The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients | 1.3 | 4 | Citations (PDF) |
| 50 | A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants | 2.7 | 10 | Citations (PDF) |
| 51 | Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study | 4.7 | 22 | Citations (PDF) |
| 52 | Survival of Laryngeal Cancer Patients Depending on Zinc Serum Level and Oxidative Stress Genotypes | 3.1 | 25 | Citations (PDF) |
| 53 | Time‐resolved proteomic profiling of cigarette smoke‐induced experimental chronic obstructive pulmonary disease | 2.7 | 34 | Citations (PDF) |
| 54 | Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus | 1.8 | 34 | Citations (PDF) |
| 55 | Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study | 16.1 | 105 | Citations (PDF) |
| 56 | Low Blood-As Levels and Selected Genotypes Appears to Be Promising Biomarkers for Occurrence of Colorectal Cancer in Women | 2.5 | 1 | Citations (PDF) |
| 57 | Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment | 3.4 | 23 | Citations (PDF) |
| 58 | Copy number variation in triple negative breast cancer samples associated with lymph node metastasis | 2.6 | 35 | Citations (PDF) |
| 59 | Influence of the Levels of Arsenic, Cadmium, Mercury and Lead on Overall Survival in Lung Cancer | 3.1 | 51 | Citations (PDF) |
| 60 | Survival of bladder or renal cancer in patients with CHEK2 mutations | 1.5 | 4 | Citations (PDF) |
| 61 | Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility | 3.1 | 27 | Citations (PDF) |
| 62 | The power of genetic diversity in genome-wide association studies of lipids | 30.6 | 948 | Citations (PDF) |
| 63 | Epigenome-wide association studies: current knowledge, strategies and recommendations | 3.0 | 209 | Citations (PDF) |
| 64 | Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the Literature | 1.0 | 19 | Citations (PDF) |
| 65 | Endocannabinoid System as a Promising Therapeutic Target in Inflammatory Bowel Disease – A Systematic Review | 3.3 | 69 | Citations (PDF) |
| 66 | Transcriptomic abnormalities in peripheral blood in bipolar disorder, and discrimination of the major psychoses | 1.6 | 29 | Citations (PDF) |
| 67 | Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk | 2.8 | 26 | Citations (PDF) |
| 68 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes | 14.1 | 171 | Citations (PDF) |
| 69 | Wnt receptor gene
FZD1
was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort | 1.9 | 12 | Citations (PDF) |
| 70 | Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population | 1.3 | 4 | Citations (PDF) |
| 71 | c-Myc inactivation of p53 through the pan-cancer lncRNA MILIP drives cancer pathogenesis | 10.8 | 110 | Citations (PDF) |
| 72 | Concentrations of plasma-borne extracellular particles differ between multiple sclerosis disease courses and compared to healthy controls | 1.4 | 9 | Citations (PDF) |
| 73 | Increased power by harmonizing structural MRI site differences with the ComBat batch adjustment method in ENIGMA | 3.0 | 270 | Citations (PDF) |
| 74 | Erythrocyte microRNAs show biomarker potential and implicate multiple sclerosis susceptibility genes | 4.1 | 15 | Citations (PDF) |
| 75 | 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 | 46.9 | 399 | Citations (PDF) |
| 76 | The genetic architecture of the human cerebral cortex | 26.1 | 778 | Citations (PDF) |
| 77 | Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status | 2.4 | 44 | Citations (PDF) |
| 78 | Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort | 1.8 | 7 | Citations (PDF) |
| 79 | Lung Cancer Occurrence—Correlation with Serum Chromium Levels and Genotypes | 2.3 | 31 | Citations (PDF) |
| 80 | Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population | 1.7 | 18 | Citations (PDF) |
| 81 | Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients | 2.7 | 14 | Citations (PDF) |
| 82 | Influence of the selenium level on overall survival in lung cancer | 2.3 | 39 | Citations (PDF) |
| 83 | Evaluating the associations between obesity and age-related cataract: a Mendelian randomization study | 3.2 | 14 | Citations (PDF) |
| 84 | Clinical use of SNP-microarrays for the detection of genome-wide changes in haematological malignancies | 3.5 | 41 | Citations (PDF) |
| 85 | Colorectal carcinoma in the course of inflammatory bowel diseases | 1.4 | 86 | Citations (PDF) |
| 86 | Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome | 1.0 | 42 | Citations (PDF) |
| 87 | Genetically Determined Risk of Depression and Functional Outcome After Ischemic Stroke | 4.4 | 31 | Citations (PDF) |
| 88 | TAPES: A tool for assessment and prioritisation in exome studies | 1.9 | 41 | Citations (PDF) |
| 89 | Paternal impacts on development: identification of genomic regions vulnerable to oxidative DNA damage in human spermatozoa | 0.9 | 63 | Citations (PDF) |
| 90 | Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 | 1.6 | 37 | Citations (PDF) |
| 91 | Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report | 1.4 | 36 | Citations (PDF) |
| 92 | Alteration of miRNA-mRNA interactions in lymphocytes of individuals with schizophrenia | 1.9 | 24 | Citations (PDF) |
| 93 | Exceptional Longevity and Polygenic Risk for Cardiovascular Health | 1.8 | 10 | Citations (PDF) |
| 94 | 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 | 1.4 | 57 | Citations (PDF) |
| 95 | Genome-wide association study of germline variants and breast cancer-specific mortality | 4.1 | 62 | Citations (PDF) |
| 96 | Genome-wide association meta-analysis of functional outcome after ischemic stroke | 0.7 | 152 | Citations (PDF) |
| 97 | LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription | 10.8 | 59 | Citations (PDF) |
| 98 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | 4.0 | 1,054 | Citations (PDF) |
| 99 | Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence | 1.5 | 56 | Citations (PDF) |
| 100 | Cell-Free DNA as a Diagnostic Blood-Based Biomarker for Colorectal Cancer: A Systematic Review | 1.0 | 74 | Citations (PDF) |
| 101 | Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis | 2.8 | 96 | Citations (PDF) |
| 102 | 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 | 2.3 | 13 | Citations (PDF) |
| 103 | A Simple Migration/Invasion Workflow Using an Automated Live-cell Imager | 0.2 | 0 | Citations (PDF) |
| 104 | Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin | 1.8 | 25 | Citations (PDF) |
| 105 | Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses | 2.0 | 80 | Citations (PDF) |
| 106 | Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls | 3.9 | 13 | Citations (PDF) |
| 107 | Letter to the editor: blood processing and sample storage have negligible effects on methylation | 3.0 | 24 | Citations (PDF) |
| 108 | Gene expression profiles in whole blood and associations with metabolic dysregulation in obesity | 0.6 | 5 | Citations (PDF) |
| 109 | Cancer Risks for PMS2-Associated Lynch Syndrome | 12.4 | 205 | Citations (PDF) |
| 110 | Molecular patterns of cancer colonisation in lymph nodes of breast cancer patients | 3.4 | 24 | Citations (PDF) |
| 111 | Critical evaluation of linear regression models for cell-subtype specific methylation signal from mixed blood cell DNA | 1.5 | 11 | Citations (PDF) |
| 112 | Differing Contributions of Classical Risk Factors to Type 2 Diabetes in Multi-Ethnic Malaysian Populations | 2.0 | 16 | Citations (PDF) |
| 113 | Genome-wide DNA methylation changes in CD19+ B cells from relapsing-remitting multiple sclerosis patients | 2.7 | 55 | Citations (PDF) |
| 114 | Epigenetically reprogrammed methylation landscape drives the DNA self-assembly and serves as a universal cancer biomarker | 10.8 | 161 | Citations (PDF) |
| 115 | Biogeography and Distribution of the Cryptic Species Rosyface ShinerNotropis rubellusand Carmine ShinerNotropis percobromusin Illinois | 1.8 | 1 | Citations (PDF) |
| 116 | BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population | 1.5 | 9 | Citations (PDF) |
| 117 | Increased DNA methylation of SLFN12 in CD4+ and CD8+ T cells from multiple sclerosis patients | 1.5 | 46 | Citations (PDF) |
| 118 | Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders | 4.0 | 430 | Citations (PDF) |
| 119 | Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits | 14.1 | 1,365 | Citations (PDF) |
| 120 | Mutations in RECQL are not associated with breast cancer risk in an Australian population | 14.1 | 19 | Citations (PDF) |
| 121 | CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis | 1.4 | 4 | Citations (PDF) |
| 122 | Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function | 10.8 | 662 | Citations (PDF) |
| 123 | Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium | 3.8 | 975 | Citations (PDF) |
| 124 | Erythrocyte microRNA sequencing reveals differential expression in relapsing-remitting multiple sclerosis | 1.3 | 20 | Citations (PDF) |
| 125 | Association of zinc level and polymorphism in MMP-7 gene with prostate cancer in Polish population | 1.5 | 35 | Citations (PDF) |
| 126 | Analysis of shared heritability in common disorders of the brain | 26.1 | 1,407 | Citations (PDF) |
| 127 | Identification of nine new susceptibility loci for endometrial cancer | 10.8 | 280 | Citations (PDF) |
| 128 | Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function | 10.8 | 111 | Citations (PDF) |
| 129 | DNA methylation changes in CD4+ T cells isolated from multiple sclerosis patients on dimethyl fumarate | 0.4 | 19 | Citations (PDF) |
| 130 | Review and meta-analysis of genetic polymorphisms associated with exceptional human longevity | 3.8 | 89 | Citations (PDF) |
| 131 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer | 14.1 | 231 | Citations (PDF) |
| 132 | Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome | 1.1 | 16 | Citations (PDF) |
| 133 | The intron 3 16 bp duplication polymorphism of p53 (rs17878362) is not associated with increased risk of developing triple-negative breast cancer | 1.8 | 7 | Citations (PDF) |
| 134 | Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk | 14.1 | 584 | Citations (PDF) |
| 135 | Use of multigene‐panel identifies pathogenic variants in several CRC‐predisposing genes in patients previously tested for Lynch Syndrome | 1.5 | 42 | Citations (PDF) |
| 136 | Serum 25(OH)D concentration, common variants of the VDR gene and lung cancer occurrence | 2.8 | 18 | Citations (PDF) |
| 137 | 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function | 2.7 | 111 | Citations (PDF) |
| 138 | EBV and MS: Major cause, minor contribution or red-herring? | 1.4 | 47 | Citations (PDF) |
| 139 | HD-SNP Microarray Analysis of the Study 9 High Risk ALL Patients—Increased Yield of Important Prognostic Information | 1.8 | 0 | Citations (PDF) |
| 140 | Predicting type 2 diabetes using genetic and environmental risk factors in a multi-ethnic Malaysian cohort | 1.7 | 14 | Citations (PDF) |
| 141 | Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1 | 2.5 | 6 | Citations (PDF) |
| 142 | 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 | 2.8 | 141 | Citations (PDF) |
| 143 | Detection of complex genomic signatures associated with risk in plasma cell disorders | 1.8 | 7 | Citations (PDF) |
| 144 | Association analysis identifies 65 new breast cancer risk loci | 30.6 | 1,443 | Citations (PDF) |
| 145 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | 14.1 | 408 | Citations (PDF) |
| 146 | Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney | 4.7 | 146 | Citations (PDF) |
| 147 | Evaluation of Integrating HD-SNP Microarray Into the Workflow for CLL and MM: Challenges and Culture Changes | 1.8 | 0 | Citations (PDF) |
| 148 | Characterization of the early molecular changes in the glomeruli of Cd151
−/− mice highlights induction of mindin and MMP-10 | 2.7 | 15 | Citations (PDF) |
| 149 | Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy | 1.4 | 35 | Citations (PDF) |
| 150 | The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation | 1.4 | 21 | Citations (PDF) |
| 151 | Differential methylation at MHC in CD4+ T cells is associated with multiple sclerosis independently of HLA-DRB1 | 3.0 | 77 | Citations (PDF) |
| 152 | Thyroid cancer in a patient with Lynch syndrome – case report and literature review | 3.5 | 10 | Citations (PDF) |
| 153 | Widespread white matter microstructural differences in schizophrenia across 4322 individuals: results from the ENIGMA Schizophrenia DTI Working Group | 5.2 | 719 | Citations (PDF) |
| 154 | Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study | 1.5 | 38 | Citations (PDF) |
| 155 | Promoter Methylation Pattern Controls Corticotropin Releasing Hormone Gene Activity in Human Trophoblasts | 1.5 | 5 | Citations (PDF) |
| 156 | Erythrocytes in multiple sclerosis – forgotten contributors to the pathophysiology? | 0.4 | 15 | Citations (PDF) |
| 157 | Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer? | 2.8 | 19 | Citations (PDF) |
| 158 | PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS | 2.2 | 208 | Citations (PDF) |
| 159 | Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells | 3.0 | 51 | Citations (PDF) |
| 160 | A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology | 10.8 | 53 | Citations (PDF) |
| 161 | Altered neural signaling and immune pathways in peripheral blood mononuclear cells of schizophrenia patients with cognitive impairment: A transcriptome analysis | 3.4 | 37 | Citations (PDF) |
| 162 | Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes | 1.8 | 20 | Citations (PDF) |
| 163 | Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses | 14.1 | 1,033 | Citations (PDF) |
| 164 | Five endometrial cancer risk loci identified through genome-wide association analysis | 14.1 | 94 | Citations (PDF) |
| 165 | Genome-wide association study identifies 74 loci associated with educational attainment | 30.6 | 1,387 | Citations (PDF) |
| 166 | Somatic‐gonadal mosaicism causing Sotos syndrome | 1.1 | 5 | Citations (PDF) |
| 167 | Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations | 1.0 | 21 | Citations (PDF) |
| 168 | Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia | 1.6 | 90 | Citations (PDF) |
| 169 | Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer | 0.6 | 81 | Citations (PDF) |
| 170 | Genetics, Mucosal Inflammation and the Environment in Post-Infectious Chronic Gut Syndromes | 1.4 | 2 | Citations (PDF) |
| 171 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | 10.8 | 103 | Citations (PDF) |
| 172 | Genetic variants linked to education predict longevity | 5.2 | 127 | Citations (PDF) |
| 173 | Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults | 2.7 | 32 | Citations (PDF) |
| 174 | DNA methylation profile of triple negative breast cancer-specific genes comparing lymph node positive patients to lymph node negative patients | 2.7 | 64 | Citations (PDF) |
| 175 | Comparison of Three Different Methods for Determining Cell Proliferation in Breast Cancer Cell Lines | 0.2 | 13 | Citations (PDF) |
| 176 | A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding | 4.0 | 34 | Citations (PDF) |
| 177 | Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients | 0.7 | 8 | Citations (PDF) |
| 178 | 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 | 1.4 | 6 | Citations (PDF) |
| 179 | The prevalence of unique SNPs in the renin‐angiotensin system highlights the need for pharmacogenetics in Indigenous Australians | 1.5 | 6 | Citations (PDF) |
| 180 | Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study | 13.7 | 245 | Citations (PDF) |
| 181 | Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract | 4.5 | 12 | Citations (PDF) |
| 182 | GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer | 2.1 | 21 | Citations (PDF) |
| 183 | Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families | 2.0 | 29 | Citations (PDF) |
| 184 | Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women | 8.3 | 62 | Citations (PDF) |
| 185 | The presence of the intron 3 16 bp duplication polymorphism ofp53(rs17878362) in breast cancer is associated with a low Δ40p53:p53 ratio and better outcome | 2.2 | 18 | Citations (PDF) |
| 186 | Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function | 10.8 | 513 | Citations (PDF) |
| 187 | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing | 2.2 | 102 | Citations (PDF) |
| 188 | A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration | 2.1 | 92 | Citations (PDF) |
| 189 | Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects | 14.1 | 1,079 | Citations (PDF) |
| 190 | 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 | 1.5 | 7 | Citations (PDF) |
| 191 | Genetic feedback to reduce alcohol consumption in hospital outpatients with risky drinking: feasibility and acceptability | 0.6 | 1 | Citations (PDF) |
| 192 | Serum Concentrations of Selenium and Copper in Patients Diagnosed with Pancreatic Cancer | 2.3 | 113 | Citations (PDF) |
| 193 | Comparison of Three Different Methods for Determining Cell Proliferation in Breast Cancer Cell Lines | 0.2 | 1 | Citations (PDF) |
| 194 | Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions | 1.3 | 10 | Citations (PDF) |
| 195 | Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context | 2.7 | 33 | Citations (PDF) |
| 196 | Novel genes associated with lymph node metastasis in triple negative breast cancer | 2.7 | 55 | Citations (PDF) |
| 197 | Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 | 2.7 | 41 | Citations (PDF) |
| 198 | Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis | 3.2 | 157 | Citations (PDF) |
| 199 | Characterizing the genetic risk for Type 2 diabetes in a Malaysian multi‐ethnic cohort | 1.7 | 9 | Citations (PDF) |
| 200 | Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure | 3.2 | 20 | Citations (PDF) |
| 201 | Review Selenium as a marker of cancer risk and of selection for control examinations in surveillance | 0.3 | 5 | Citations (PDF) |
| 202 | miRNAs and Other Epigenetic Changes as Biomarkers in Triple Negative Breast Cancer | 3.2 | 69 | Citations (PDF) |
| 203 | Genetic and Environmental Factors Affecting TNF-α Responses in Relation to Sudden Infant Death Syndrome | 3.3 | 19 | Citations (PDF) |
| 204 | Nerve fibers infiltrate the tumor microenvironment and are associated with nerve growth factor production and lymph node invasion in breast cancer | 2.8 | 170 | Citations (PDF) |
| 205 | Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants | 3.2 | 488 | Citations (PDF) |
| 206 | The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects | 5.2 | 81 | Citations (PDF) |
| 207 | Proteotranscriptomic Profiling of 231-BR Breast Cancer Cells: Identification of Potential Biomarkers and Therapeutic Targets for Brain Metastasis | 3.2 | 66 | Citations (PDF) |
| 208 | Genetic burden associated with varying degrees of disease severity in endometriosis | 2.3 | 40 | Citations (PDF) |
| 209 | Folate Pathway Gene Polymorphisms and Risk of Childhood Brain Tumors: Results from an Australian Case–Control Study | 0.6 | 6 | Citations (PDF) |
| 210 | Virus Infections and Sudden Death in Infancy: The Role of Interferon-γ | 3.3 | 20 | Citations (PDF) |
| 211 | Exploring the Risk Factors for Sudden Infant Deaths and Their Role in Inflammatory Responses to Infection | 3.3 | 32 | Citations (PDF) |
| 212 | Association between endometriosis and the interleukin 1A (IL1A) locus | 0.9 | 66 | Citations (PDF) |
| 213 | Genetics of hand grip strength in mid to late life | 3.0 | 20 | Citations (PDF) |
| 214 | Breastfeeding and Nutrition to 2 Years of Age and Risk of Childhood Acute Lymphoblastic Leukemia and Brain Tumors | 1.8 | 26 | Citations (PDF) |
| 215 | Paternal Dietary Folate, B6 and B12 Intake, and the Risk of Childhood Brain Tumors | 1.8 | 6 | Citations (PDF) |
| 216 | Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value | 10.8 | 183 | Citations (PDF) |
| 217 | Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) | 5.2 | 392 | Citations (PDF) |
| 218 | Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer | 1.8 | 122 | Citations (PDF) |
| 219 | Genetic Overlap Between Diagnostic Subtypes of Ischemic Stroke | 4.4 | 38 | Citations (PDF) |
| 220 | Do common genotypes of FK506 binding protein 5 (FKBP5) moderate the effects of childhood maltreatment on cognition in schizophrenia and healthy controls? | 1.9 | 30 | Citations (PDF) |
| 221 | Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression | 4.0 | 40 | Citations (PDF) |
| 222 | 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 | 1.4 | 11 | Citations (PDF) |
| 223 | Folate Pathway Gene Polymorphisms, Maternal Folic Acid Use, and Risk of Childhood Acute Lymphoblastic Leukemia | 0.6 | 18 | Citations (PDF) |
| 224 | Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores | 4.0 | 1,377 | Citations (PDF) |
| 225 | CX3CR1 is dysregulated in blood and brain from schizophrenia patients | 1.6 | 62 | Citations (PDF) |
| 226 | Biobank Classification in an Australian Setting | 0.8 | 16 | Citations (PDF) |
| 227 | Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls | 3.4 | 41 | Citations (PDF) |
| 228 | A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis | 2.1 | 73 | Citations (PDF) |
| 229 | The effect of a muscarinic receptor 1 gene variant on grey matter volume in schizophrenia | 1.4 | 18 | Citations (PDF) |
| 230 | Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1 | 3.8 | 73 | Citations (PDF) |
| 231 | Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses | 2.3 | 14 | Citations (PDF) |
| 232 | Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk | 2.1 | 54 | Citations (PDF) |
| 233 | Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening | 1.5 | 5 | Citations (PDF) |
| 234 | Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case–control study | 0.9 | 10 | Citations (PDF) |
| 235 | INPP4B is an oncogenic regulator in human colon cancer | 5.2 | 57 | Citations (PDF) |
| 236 | GWAS for executive function and processing speed suggests involvement of the CADM2 gene | 5.2 | 146 | Citations (PDF) |
| 237 | Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis | 2.3 | 3 | Citations (PDF) |
| 238 | Polygenic Overlap Between Kidney Function and Large Artery Atherosclerotic Stroke | 4.4 | 23 | Citations (PDF) |
| 239 | The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings | 1.1 | 42 | Citations (PDF) |
| 240 | The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome | 2.2 | 79 | Citations (PDF) |
| 241 | Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium | 2.1 | 96 | Citations (PDF) |
| 242 | Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | 3.4 | 113 | Citations (PDF) |
| 243 | Epithelioid trophoblastic tumour simulating a high grade carcinoma | 1.4 | 3 | Citations (PDF) |
| 244 | Cytokine gene polymorphism among Indigenous Australians | 2.3 | 18 | Citations (PDF) |
| 245 | The male excess in sudden infant deaths | 2.3 | 22 | Citations (PDF) |
| 246 | Development of an experimental model for assessing the effects of cigarette smoke and virus infections on inflammatory responses to bacterial antigens | 2.3 | 7 | Citations (PDF) |
| 247 | Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes | 4.4 | 195 | Citations (PDF) |
| 248 | Low prevalence of germline PALB2 mutations in Australian triple‐negative breast cancer | 2.8 | 14 | Citations (PDF) |
| 249 | Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci | 1.9 | 39 | Citations (PDF) |
| 250 | Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors | 1.2 | 9 | Citations (PDF) |
| 251 | Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer | 2.1 | 82 | Citations (PDF) |
| 252 | Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia | 1.9 | 80 | Citations (PDF) |
| 253 | <scp><i>KRAS</i></scp> mutation testing of metastatic colorectal cancer in <scp>A</scp>ustralia: Where are we at? | 1.0 | 8 | Citations (PDF) |
| 254 | Lynch syndrome mutations shared by the Baltic States and Poland | 1.5 | 5 | Citations (PDF) |
| 255 | Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases | 4.0 | 641 | Citations (PDF) |
| 256 | Methylation differences at the HLA-DRB1 locus in CD4+ T-Cells are associated with multiple sclerosis | 2.3 | 133 | Citations (PDF) |
| 257 | Genome-wide association analysis identifies six new loci associated with forced vital capacity | 14.1 | 141 | Citations (PDF) |
| 258 | First recurrent large genomic rearrangement in the BRCA1 gene found in Poland | 1.6 | 1 | Citations (PDF) |
| 259 | Expanding the genetic basis of copy number variation in familial breast cancer | 1.4 | 15 | Citations (PDF) |
| 260 | Dupuytren’s disease and the risk of malignant neoplasms | 1.4 | 9 | Citations (PDF) |
| 261 | Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia | 1.9 | 39 | Citations (PDF) |
| 262 | The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer | 2.1 | 31 | Citations (PDF) |
| 263 | Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade | 2.1 | 14 | Citations (PDF) |
| 264 | Genome-Wide Association Study Identifies Two Novel Genomic Regions in Irritable Bowel Syndrome | 0.7 | 27 | Citations (PDF) |
| 265 | Progesterone Activates Multiple Innate Immune Pathways in
C
hlamydia trachomatis
‐Infected Endocervical Cells | 1.5 | 31 | Citations (PDF) |
| 266 | Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and Risk of Childhood Brain Tumors | 1.8 | 27 | Citations (PDF) |
| 267 | Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study | 1.8 | 26 | Citations (PDF) |
| 268 | Concordance between Direct and Imputed APOE Genotypes using 1000 Genomes Data | 1.6 | 13 | Citations (PDF) |
| 269 | Common variants of xeroderma pigmentosum genes and prostate cancer risk | 1.6 | 24 | Citations (PDF) |
| 270 | Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition | 1.8 | 14 | Citations (PDF) |
| 271 | Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk | 1.8 | 35 | Citations (PDF) |
| 272 | Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population | 1.9 | 33 | Citations (PDF) |
| 273 | Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures | 1.5 | 33 | Citations (PDF) |
| 274 | Xeroderma pigmentosum genes and melanoma risk | 2.8 | 52 | Citations (PDF) |
| 275 | Exposure to pesticides and the risk of childhood brain tumors | 1.2 | 58 | Citations (PDF) |
| 276 | Can selenium levels act as a marker of colorectal cancer risk? | 2.1 | 42 | Citations (PDF) |
| 277 | Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients | 1.3 | 22 | Citations (PDF) |
| 278 | Genetic modifiers of cancer risk in Lynch syndrome: a review | 1.1 | 22 | Citations (PDF) |
| 279 | 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 | 2.1 | 61 | Citations (PDF) |
| 280 | 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 | 2.2 | 12 | Citations (PDF) |
| 281 | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome | 2.1 | 37 | Citations (PDF) |
| 282 | Analysis of the global methylation status of human spermatozoa and its association with the tendency of these cells to enter apoptosis | 0.7 | 38 | Citations (PDF) |
| 283 | Ischemic stroke is associated with the ABO locus: The EuroCLOT study | 4.6 | 158 | Citations (PDF) |
| 284 | Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers | 2.8 | 34 | Citations (PDF) |
| 285 | Genetic Association of Refractive Error and Axial Length with 15q14 but Not 15q25 in the Blue Mountains Eye Study Cohort | 5.8 | 29 | Citations (PDF) |
| 286 | Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells | 1.9 | 105 | Citations (PDF) |
| 287 | cDNA analysis of the BRCA1 unclassified variant c.5194‐12G>A | 1.5 | 1 | Citations (PDF) |
| 288 | Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication | 2.5 | 66 | Citations (PDF) |
| 289 | Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation | 1.8 | 12 | Citations (PDF) |
| 290 | Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke | 4.4 | 20 | Citations (PDF) |
| 291 | Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes | 2.1 | 20 | Citations (PDF) |
| 292 | Evaluation of Different Normalization and Analysis Procedures for Illumina Gene Expression Microarray Data Involving Small Changes | 1.1 | 13 | Citations (PDF) |
| 293 | The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients | 1.4 | 13 | Citations (PDF) |
| 294 | Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis | 1.3 | 13 | Citations (PDF) |
| 295 | Reply to Win and Jenkins | 2.8 | 0 | Citations (PDF) |
| 296 | Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation | 2.3 | 12 | Citations (PDF) |
| 297 | Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis | 1.5 | 122 | Citations (PDF) |
| 298 | Genome-Wide Association Study of Retinopathy in Individuals without Diabetes | 1.5 | 22 | Citations (PDF) |
| 299 | Genetic Loci for Retinal Arteriolar Microcirculation | 1.5 | 32 | Citations (PDF) |
| 300 | Regulators of Global Genome Repair Do Not Respond to DNA Damaging Therapy but Correlate with Survival in Melanoma | 1.5 | 8 | Citations (PDF) |
| 301 | Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer | 1.8 | 8 | Citations (PDF) |
| 302 | Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis | 2.0 | 3 | Citations (PDF) |
| 303 | Genome-wide association study of endometrial cancer in E2C2 | 1.8 | 44 | Citations (PDF) |
| 304 | 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 | 1.2 | 9 | Citations (PDF) |
| 305 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | 14.1 | 466 | Citations (PDF) |
| 306 | Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility | 1.5 | 20 | Citations (PDF) |
| 307 | Maternal Use of Folic Acid and Other Supplements and Risk of Childhood Brain Tumors | 0.6 | 61 | Citations (PDF) |
| 308 | Parental Prenatal Smoking and Risk of Childhood Acute Lymphoblastic Leukemia | 2.4 | 110 | Citations (PDF) |
| 309 | Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype | 1.4 | 8 | Citations (PDF) |
| 310 | Changes in Brain Transcripts Related to Alzheimer's Disease in a Model of HFE Hemochromatosis are not Consistent with Increased Alzheimer's Disease Risk | 1.6 | 12 | Citations (PDF) |
| 311 | Nodular prurigo of the vulva | 1.4 | 7 | Citations (PDF) |
| 312 | BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma | 1.4 | 0 | Citations (PDF) |
| 313 | Genome-wide association meta-analysis identifies new endometriosis risk loci | 14.1 | 290 | Citations (PDF) |
| 314 | Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE) | 3.7 | 73 | Citations (PDF) |
| 315 | Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis | 2.3 | 56 | Citations (PDF) |
| 316 | Common variants at 6p21.1 are associated with large artery atherosclerotic stroke | 14.1 | 163 | Citations (PDF) |
| 317 | DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome | 1.6 | 26 | Citations (PDF) |
| 318 | DNA and RNA analyses in detection of genetic predisposition to cancer | 1.4 | 8 | Citations (PDF) |
| 319 | Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial | 16.1 | 103 | Citations (PDF) |
| 320 | Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and the Risk of Childhood Acute Lymphoblastic Leukemia | 1.8 | 44 | Citations (PDF) |
| 321 | MicroRNA-16 Is Down-Regulated in Mutated FLT3 Expressing Murine Myeloid FDC-P1 Cells and Interacts with Pim-1 | 1.5 | 20 | Citations (PDF) |
| 322 | Are Myocardial Infarction–Associated Single-Nucleotide Polymorphisms Associated With Ischemic Stroke? | 4.4 | 25 | Citations (PDF) |
| 323 | 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 | 4.1 | 29 | Citations (PDF) |
| 324 | Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer | 0.6 | 32 | Citations (PDF) |
| 325 | Brain transcriptome perturbations in the Hfe−/− mouse model of genetic iron loading | 1.9 | 15 | Citations (PDF) |
| 326 | Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors | 1.2 | 35 | Citations (PDF) |
| 327 | Genome-wide association analyses identify 18 new loci associated with serum urate concentrations | 14.1 | 799 | Citations (PDF) |
| 328 | Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia | 5.2 | 144 | Citations (PDF) |
| 329 | Transcriptome Sequencing Revealed Significant Alteration of Cortical Promoter Usage and Splicing in Schizophrenia | 1.5 | 95 | Citations (PDF) |
| 330 | Gene Expression Profiling of Human Myeloid Leukemic MV4-11 Cells Treated with 5-Aza-2’-deoxycytidine | 0.2 | 3 | Citations (PDF) |
| 331 | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis | 30.6 | 2,673 | Citations (PDF) |
| 332 | Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples | 4.4 | 277 | Citations (PDF) |
| 333 | An X-Linked Haplotype of Neandertal Origin Is Present Among All Non-African Populations | 3.1 | 89 | Citations (PDF) |
| 334 | Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 Polymorphisms on 90-Day Ischemic Stroke Functional Outcome: A Novel Finding | 1.0 | 55 | Citations (PDF) |
| 335 | Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial | 46.9 | 921 | Citations (PDF) |
| 336 | Long Term Transcriptional Reactivation of Epigenetically Silenced Genes in Colorectal Cancer Cells Requires DNA Hypomethylation and Histone Acetylation | 1.5 | 30 | Citations (PDF) |
| 337 | Smoking Related Cancers and Loci at Chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish Population | 1.5 | 40 | Citations (PDF) |
| 338 | Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? | 1.5 | 11 | Citations (PDF) |
| 339 | Genome-wide association study identifies a common variant associated with risk of endometrial cancer | 14.1 | 149 | Citations (PDF) |
| 340 | P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation | 2.1 | 100 | Citations (PDF) |
| 341 | A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2genes | 2.1 | 29 | Citations (PDF) |
| 342 | Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci | 4.6 | 344 | Citations (PDF) |
| 343 | Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods | 2.4 | 8 | Citations (PDF) |
| 344 | Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia | 2.8 | 36 | Citations (PDF) |
| 345 | Systemic upregulation of neutrophil -defensins and serine proteases in neutrophilic asthma | 3.4 | 79 | Citations (PDF) |
| 346 | 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome | 2.1 | 5 | Citations (PDF) |
| 347 | Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells | 5.2 | 236 | Citations (PDF) |
| 348 | Genetic Variation and its Role in Malignancy | 0.0 | 39 | Citations (PDF) |
| 349 | Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk | 1.6 | 58 | Citations (PDF) |
| 350 | Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists | 2.1 | 97 | Citations (PDF) |
| 351 | Toll-Like Receptor (TLR) and Nucleosome-binding Oligomerization Domain (NOD) gene polymorphisms and endometrial cancer risk | 2.1 | 59 | Citations (PDF) |
| 352 | Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility | 2.1 | 31 | Citations (PDF) |
| 353 | Leiden open variation database of the MUTYH gene | 1.0 | 78 | Citations (PDF) |
| 354 | Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring | 2.8 | 72 | Citations (PDF) |
| 355 | MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer | 1.4 | 36 | Citations (PDF) |
| 356 | Evidence-Based Medicine in the Era of Biomarkers: Teaching a New Dog Old Tricks? | 2.8 | 10 | Citations (PDF) |
| 357 | Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis | 14.1 | 24 | Citations (PDF) |
| 358 | A Transcription Factor Map as Revealed by a Genome-Wide Gene Expression Analysis of Whole-Blood mRNA Transcriptome in Multiple Sclerosis | 1.5 | 58 | Citations (PDF) |
| 359 | The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis | 2.1 | 144 | Citations (PDF) |
| 360 | Detecting Genotyping Error Using Measures of Degree of Hardy-Weinberg Disequilibrium | 0.4 | 19 | Citations (PDF) |
| 361 | Differential gene expression and cytokine production from neutrophils in asthma phenotypes | 6.5 | 94 | Citations (PDF) |
| 362 | Nucleotide Excision Repair Gene Expression after Cisplatin Treatment in Melanoma | 2.6 | 26 | Citations (PDF) |
| 363 | Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure | 0.9 | 19 | Citations (PDF) |
| 364 | Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo | 2.2 | 143 | Citations (PDF) |
| 365 | Cohort Profile: The Hunter Community Study | 2.8 | 115 | Citations (PDF) |
| 366 | Combined iPLEX and TaqMan Assays to Screen for 45 Common Mutations in Lynch Syndrome and FAP Patients | 1.9 | 9 | Citations (PDF) |
| 367 | Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: results from an Australian case–control study | 1.2 | 30 | Citations (PDF) |
| 368 | MicroRNAs miR-17 and miR-20a Inhibit T Cell Activation Genes and Are Under-Expressed in MS Whole Blood | 1.5 | 235 | Citations (PDF) |
| 369 | Fetal Growth and Risk of Childhood Acute Lymphoblastic Leukemia: Results From an Australian Case-Control Study | 2.4 | 41 | Citations (PDF) |
| 370 | ONCOSTATIN M (OSM) IS INCREASED IN ASTHMA WITH INCOMPLETELY REVERSIBLE AIRFLOW OBSTRUCTION | 1.1 | 63 | Citations (PDF) |
| 371 | Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: Effects of antipsychotic drugs | 1.9 | 22 | Citations (PDF) |
| 372 | Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer | 2.3 | 42 | Citations (PDF) |
| 373 | Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age | 2.8 | 41 | Citations (PDF) |
| 374 | MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer | 2.1 | 22 | Citations (PDF) |
| 375 | Estrogen receptor polymorphisms and the risk of endometrial cancer | 2.1 | 46 | Citations (PDF) |
| 376 | Clinical characteristics of tumors derived from colorectal cancer patients who harbor the Tumor Necrosis Factor α-1031T/T and NOD2 3020insC polymorphism | 1.6 | 2 | Citations (PDF) |
| 377 | Vitamin D receptor variants and the malignant melanoma risk: A population-based study | 1.6 | 36 | Citations (PDF) |
| 378 | How to Use an Article About Genetic Association | 14.4 | 118 | Citations (PDF) |
| 379 | How to Use an Article About Genetic Association | 14.4 | 88 | Citations (PDF) |
| 380 | How to Use an Article About Genetic Association | 14.4 | 53 | Citations (PDF) |
| 381 | A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting | 1.9 | 108 | Citations (PDF) |
| 382 | IMMUNE RESPONSES OF AIRWAY NEUTROPHILS ARE IMPAIRED IN ASTHMA | 1.1 | 33 | Citations (PDF) |
| 383 | Genetic variants in MUTYH are not associated with endometrial cancer risk | 1.4 | 18 | Citations (PDF) |
| 384 | BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms | 1.8 | 74 | Citations (PDF) |
| 385 | COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer | 4.1 | 44 | Citations (PDF) |
| 386 | Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer | 2.8 | 33 | Citations (PDF) |
| 387 | Aurora‐A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer | 2.8 | 29 | Citations (PDF) |
| 388 | IGF1 is a modifier of disease risk in hereditary non‐polyposis colorectal cancer | 2.8 | 27 | Citations (PDF) |
| 389 | Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation | 4.0 | 208 | Citations (PDF) |
| 390 | Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis | 2.9 | 57 | Citations (PDF) |
| 391 | Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT | 0.9 | 42 | Citations (PDF) |
| 392 | Altered gene expression in the superior temporal gyrus in schizophrenia | 2.1 | 68 | Citations (PDF) |
| 393 | Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk | 2.1 | 43 | Citations (PDF) |
| 394 | Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism | 2.1 | 6 | Citations (PDF) |
| 395 | The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor | 2.1 | 10 | Citations (PDF) |
| 396 | The VEGF_936_C>T 3′UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women | 6.5 | 47 | Citations (PDF) |
| 397 | The −149C>T SNP within the ΔDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer | 6.5 | 11 | Citations (PDF) |
| 398 | Common variants of DNA repair genes and malignant melanoma | 2.8 | 40 | Citations (PDF) |
| 399 | Dysregulation of miRNA 181b in the temporal cortex in schizophrenia | 2.1 | 328 | Citations (PDF) |
| 400 | Clarithromycin Targets Neutrophilic Airway Inflammation in Refractory Asthma | 5.0 | 468 | Citations (PDF) |
| 401 | Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome | 26.5 | 294 | Citations (PDF) |
| 402 | Smad4 haploinsufficiency: a matter of dosage | 2.5 | 23 | Citations (PDF) |
| 403 | Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland | 1.3 | 13 | Citations (PDF) |
| 404 | Vitamin D receptor variants and breast cancer risk in the Polish population | 1.8 | 29 | Citations (PDF) |
| 405 | Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology | 1.8 | 12 | Citations (PDF) |
| 406 | Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer | 1.1 | 20 | Citations (PDF) |
| 407 | Temozolomide induces senescence but not apoptosis in human melanoma cells | 4.1 | 82 | Citations (PDF) |
| 408 | The RAD51 135 G>C Polymorphism Modifies Breast Cancer and Ovarian Cancer Risk in Polish BRCA1 Mutation Carriers | 0.6 | 61 | Citations (PDF) |
| 409 | Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease | 1.4 | 15 | Citations (PDF) |
| 410 | Base excision repair and the role of MUTYH | 1.4 | 30 | Citations (PDF) |
| 411 | The PAI-1 4G/5G Gene Polymorphism and Ischemic Stroke: An Association Study and Meta-Analysis | 1.0 | 36 | Citations (PDF) |
| 412 | Altered expression of regulator of G-protein signalling 4 (RGS4) mRNA in the superior temporal gyrus in schizophrenia | 1.6 | 48 | Citations (PDF) |
| 413 | MDM2 SNP309 T>G alone or in combination with theTP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients | 2.8 | 42 | Citations (PDF) |
| 414 | 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 | 2.8 | 0 | Citations (PDF) |
| 415 | Transport kinetics of four- and six-coordinate platinum compounds in the multicell layer tumour model | 4.1 | 31 | Citations (PDF) |
| 416 | Genome-wide association study identifies novel breast cancer susceptibility loci | 30.6 | 2,220 | Citations (PDF) |
| 417 | Clinical and epidemiological features of familial laryngeal cancer in Poland | 2.1 | 2 | Citations (PDF) |
| 418 | CYP1B1 and predisposition to breast cancer in Poland | 1.8 | 19 | Citations (PDF) |
| 419 | Familial association of laryngeal, lung, stomach and early-onset breast cancer | 1.8 | 0 | Citations (PDF) |
| 420 | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study) | 1.5 | 37 | Citations (PDF) |
| 421 | Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia | 1.6 | 108 | Citations (PDF) |
| 422 | Altered gene expression in the amygdala in schizophrenia: Up-regulation of genes located in the cytomatrix active zone | 2.2 | 55 | Citations (PDF) |
| 423 | IL6 G-174C Associated With Sudden Infant Death Syndrome in a Caucasian Australian Cohort | 0.5 | 45 | Citations (PDF) |
| 424 | Gene Expression Profiling of Xeroderma Pigmentosum | 1.4 | 5 | Citations (PDF) |
| 425 | Epimutations, Inheritance and Causes of Aberrant DNA Methylation in Cancer | 1.4 | 11 | Citations (PDF) |
| 426 | The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria | 1.4 | 10 | Citations (PDF) |
| 427 | Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers | 1.5 | 7 | Citations (PDF) |
| 428 | An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus | 1.5 | 29 | Citations (PDF) |
| 429 | Inflammatory subtypes in asthma: Assessment and identification using induced sputum | 2.7 | 888 | Citations (PDF) |
| 430 | XPD Common Variants and their Association with Melanoma and Breast Cancer Risk | 1.8 | 49 | Citations (PDF) |
| 431 | Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene | 1.8 | 18 | Citations (PDF) |
| 432 | Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism inTP53 | 2.8 | 34 | Citations (PDF) |
| 433 | MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk | 2.8 | 41 | Citations (PDF) |
| 434 | Germline epimutations of APC are not associated with inherited colorectal polyposis | 10.3 | 10 | Citations (PDF) |
| 435 | Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards | 0.6 | 56 | Citations (PDF) |
| 436 | Re: IGF-1 Gene Polymorphism and Risk for Hereditary Nonpolyposis Colorectal Cancer | 3.2 | 7 | Citations (PDF) |
| 437 | Genetic Polymorphisms in Xenobiotic Clearance Genes and Their Influence on Disease Expression in Hereditary Nonpolyposis Colorectal Cancer Patients | 0.6 | 24 | Citations (PDF) |
| 438 | The 3′ untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation | 1.8 | 18 | Citations (PDF) |
| 439 | Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks | 1.8 | 49 | Citations (PDF) |
| 440 | Case Report: Familial Gastric Cancer and Chordoma in the Same Family | 1.4 | 3 | Citations (PDF) |
| 441 | Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them? | 1.4 | 6 | Citations (PDF) |
| 442 | Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients | 1.4 | 12 | Citations (PDF) |
| 443 | Comparison of genomic abnormalities between
BRCAX
and sporadic breast cancers studied by comparative genomic hybridization | 2.8 | 32 | Citations (PDF) |
| 444 | Mutation analysis of theMYH gene in an Australian series of colorectal polyposis patients with or without germlineAPC mutations | 2.8 | 45 | Citations (PDF) |
| 445 | Differential Proteolytic Enzyme Activity in Eosinophilic and Neutrophilic Asthma | 5.0 | 148 | Citations (PDF) |
| 446 | Cytokine responses and sudden infant death syndrome: genetic, developmental, and environmental risk factors | 1.7 | 80 | Citations (PDF) |
| 447 | MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer | 0.9 | 191 | Citations (PDF) |
| 448 | Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer | 1.8 | 34 | Citations (PDF) |
| 449 | Association between early-onset breast and laryngeal cancers | 1.8 | 10 | Citations (PDF) |
| 450 | Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations | 1.5 | 50 | Citations (PDF) |
| 451 | Genetic testing: a round table conversation | 0.7 | 0 | Citations (PDF) |
| 452 | DNA mismatch repair genes and hereditary non-polyposis colorectal cancer | 1.8 | 0 | Citations (PDF) |
| 453 | Interleukin 1-? responses to bacterial toxins and sudden infant death syndrome | 3.0 | 35 | Citations (PDF) |
| 454 | Germline mutation and large deletion analysis of theCDKN2A andARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer | 2.8 | 24 | Citations (PDF) |
| 455 | Ethnicity, infection and sudden infant death syndrome | 3.0 | 44 | Citations (PDF) |
| 456 | Interleukin-10 and sudden infant death syndrome | 3.0 | 44 | Citations (PDF) |
| 457 | Relative frequency and morphology of cancers in STK11 mutation carriers1 ☆ | 0.9 | 242 | Citations (PDF) |
| 458 | Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 | 4.0 | 206 | Citations (PDF) |
| 459 | Familial Breast and Bowel Cancer: Does It Exist? | 1.4 | 4 | Citations (PDF) |
| 460 | DNA Double Strand Break Repair and its Association with Inherited Predispositions to Breast Cancer | 1.4 | 16 | Citations (PDF) |
| 461 | Nuclear Pedigree Criteria for the Identification of Individuals Suspected to Be at Risk of an Inherited Predisposition to Gastric Cancer | 1.4 | 0 | Citations (PDF) |
| 462 | Germline Missense Changes in the APC Gene and Their Relationship to Disease | 1.4 | 10 | Citations (PDF) |
| 463 | Presymptomatic DNA Testing in BRCA1/2. Invited reactions from the field on the van Oostrom and Tibben paper | 1.4 | 1 | Citations (PDF) |
| 464 | Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families | 1.4 | 2 | Citations (PDF) |
| 465 | Deletion Mutations in an Australian Series of HNPCC Patients | 1.4 | 2 | Citations (PDF) |
| 466 | Germline 657del5 mutation in the NBS1 gene in breast cancer patients | 2.8 | 83 | Citations (PDF) |
| 467 | A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer | 2.1 | 36 | Citations (PDF) |
| 468 | Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes | 1.4 | 14 | Citations (PDF) |
| 469 | 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 | 1.4 | 1 | Citations (PDF) |
| 470 | BRCA2 gene mutations in families with aggregations of breast and stomach cancers | 4.1 | 78 | Citations (PDF) |
| 471 | Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography | 1.6 | 45 | Citations (PDF) |
| 472 | Integrin expression in colon cancer cells is regulated by the cytoplasmic domain of the ?6 integrin subunit | 2.8 | 43 | Citations (PDF) |
| 473 | BRCA2 mutations in a population-based series of patients with ocular melanoma | 2.8 | 36 | Citations (PDF) |
| 474 | Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer | 1.8 | 27 | Citations (PDF) |
| 475 | Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients | 1.5 | 59 | Citations (PDF) |
| 476 | Direct integrin αvβ6-ERK binding: implications for tumour growth | 5.2 | 94 | Citations (PDF) |
| 477 | Integrin αvβ6-associated ERK2 mediates MMP-9 secretion in colon cancer cells | 4.1 | 45 | Citations (PDF) |
| 478 | Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds | 4.0 | 187 | Citations (PDF) |
| 479 | Reply to Vasen et al. | 4.0 | 1 | Citations (PDF) |
| 480 | Is hemochromatosis a risk factor for Alzheimer's disease? | 1.6 | 77 | Citations (PDF) |
| 481 | Relationship between APC genotype, polyp distribution, and oral sulindac treatment in the colon and rectum of patients with familial adenomatous polyposis | 1.2 | 28 | Citations (PDF) |
| 482 | Detection of germline mutations in the BRCA1 gene by RNA-based sequencing | 1.0 | 21 | Citations (PDF) |
| 483 | Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes | 1.0 | 20 | Citations (PDF) |
| 484 | Title is missing! | 1.1 | 8 | Citations (PDF) |
| 485 | Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity | 10.3 | 35 | Citations (PDF) |
| 486 | Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome | 2.2 | 13 | Citations (PDF) |
| 487 | Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies | 1.7 | 61 | Citations (PDF) |
| 488 | Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer 1999, 85, 2512-2518 | | 38 | Citations (PDF) |
| 489 | Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study | 4.0 | 154 | Citations (PDF) |
| 490 | Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status | 10.3 | 74 | Citations (PDF) |
| 491 | Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations | 3.2 | 676 | Citations (PDF) |
| 492 | Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. | 2.2 | 16 | Citations (PDF) |
| 493 | BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients. | 2.2 | 12 | Citations (PDF) |
| 494 | Elevated frequency of p53-independent apoptosis after irradiation increases levels of DNA breaks in ataxia telangiectasia lymphoblasts | 1.3 | 26 | Citations (PDF) |
| 495 | BRCA1 mutations found in archived early onset breast tumours | 2.8 | 3 | Citations (PDF) |
| 496 | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis | 1.8 | 50 | Citations (PDF) |
| 497 | German family study on hereditary breast and/or ovarian cancer: Germline mutation analysis of theBRCA1 gene | 1.7 | 20 | Citations (PDF) |
| 498 | Disease expression in Swiss hereditary non-polyposis colorectal cancer (HNPCC) kindreds 1997, 74, 281-285 | | 21 | Citations (PDF) |
| 499 | Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation | 2.1 | 135 | Citations (PDF) |
| 500 | Hypoplastic Left Heart Syndrome in the Second Trimester | 1.0 | 5 | Citations (PDF) |
| 501 | Secretory phospholipase A 2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis | 1.8 | 26 | Citations (PDF) |
| 502 | Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli | 1.8 | 169 | Citations (PDF) |
| 503 | Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. | 2.2 | 26 | Citations (PDF) |
| 504 | BRCA1 mutations in a selected series of breast/ovarian cancer patients. | 2.2 | 6 | Citations (PDF) |
| 505 | Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. | 2.2 | 83 | Citations (PDF) |
| 506 | Survival of Patients with Turcot's Syndrome and Glioblastoma | 26.5 | 16 | Citations (PDF) |
| 507 | Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. | 2.2 | 66 | Citations (PDF) |
| 508 | Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. | 10.3 | 78 | Citations (PDF) |
| 509 | How Common is Hereditary Cancer? | 2.5 | 0 | Citations (PDF) |
| 510 | Investigation of the Fetal Pulmonary Inflammatory Reaction in Chorioamnionitis, Using an in Situ Y Chromosome Marker | 0.5 | 14 | Citations (PDF) |
| 511 | Apoptosis is not involved in the hypersensitivity of fanconi anemia cells to mitomycin C | 1.2 | 17 | Citations (PDF) |
| 512 | Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene | 2.8 | 49 | Citations (PDF) |
| 513 | Colorectal cancer: lessons for genetic counselling and care for families | 1.5 | 5 | Citations (PDF) |
| 514 | Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repair | 1.5 | 65 | Citations (PDF) |
| 515 | Whole-body hyperthermia combined with hyperfractionated irradiation of the thorax in dog: Acute physiological response | 1.5 | 4 | Citations (PDF) |
| 516 | IL-2 Approval Recommended by FDA Panel | 3.2 | 1 | Citations (PDF) |
| 517 | Dermatologists Warn Nation of Increased Skin Cancer Risk | 3.2 | 3 | Citations (PDF) |
| 518 | Hereditary conditions in which the loss of heterozygosity may be important | 1.2 | 22 | Citations (PDF) |
| 519 | FASEB Panel Escalates Debate About IOM Training Recommendations | 3.2 | 3 | Citations (PDF) |
| 520 | Late Breaking News: Commission Urges Stronger Leadership Against AIDS | 3.2 | 0 | Citations (PDF) |
| 521 | Survey Suggests U.S. Leadership in Biomedical Science is Threatened | 3.2 | 1 | Citations (PDF) |
| 522 | Changes in the expression of class I major histocompatibility complex antigen RNA induced by interferon in rat hepatoma cells | 6.5 | 1 | Citations (PDF) |
| 523 | Whole body hyperthermia in dogs using a radiant heating device: Effect of surface cooling on temperature uniformity | 1.5 | 9 | Citations (PDF) |
| 524 | Infection withMycobacterium aviumComplex in Patients without Predisposing Conditions | 26.5 | 722 | Citations (PDF) |
| 525 | Characterization and genetic analysis of antheridiogen-insensitive mutants in the fern Ceratopteris | 1.2 | 30 | Citations (PDF) |
| 526 | Pyruvate kinase isoenzyme transitions in cultures of fetal rat hepatocytes | 1.9 | 6 | Citations (PDF) |
| 527 | GENETIC ANALYSIS OF ANTHERIDIOGEN SENSITIVITY IN CERATOPTERIS RICHARDII | 1.4 | 37 | Citations (PDF) |
| 528 | Response of canine oral carcinomas to heat and radiation | 1.3 | 47 | Citations (PDF) |
| 529 | Fulminant Hepatic Failure Secondary to Diffuse Liver Infiltration by Melanoma | 0.8 | 21 | Citations (PDF) |
| 530 | A requirement for DNA synthesis in foetal hepatocyte differentiation | 2.0 | 5 | Citations (PDF) |
| 531 | Appearance of the liver form of pyruvate kinase in differentiating cultured foetal hepatocytes | 2.0 | 8 | Citations (PDF) |
| 532 | COMBINED PHARMACOLOGIC AND SURGICAL TREATMENTS FOR ACUTE SPINAL CORD TRAUMA | 2.6 | 6 | Citations (PDF) |
| 533 | Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function | 1.0 | 17 | Citations (PDF) |
| 534 | Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and
HLA
‐
DRB1
*1501
Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset | 4.6 | 6 | Citations (PDF) |
| 535 | Serum Iodine Levels and 8-Year Survival in Patients After Kidney Cancer Diagnosis | 2.7 | 0 | Citations (PDF) |
| 536 | Biobanking: Possibilities for Wastewater-Based Epidemiology | 0.8 | 2 | Citations (PDF) |
| 537 | From
DNA
Methylation Microarray to Digital
PCR
: A Stepwise Strategy for Tissue Specific
cfDNA
Biomarker Development | 1.4 | 0 | Citations (PDF) |
| 538 | Are current Polish guidelines for prophylactic mastectomy sufficient? | 1.4 | 0 | Citations (PDF) |
| 539 | A Novel Blood‐Based Screening Test for Colorectal Cancer Using Raman Spectroscopy | 0.9 | 0 | Citations (PDF) |
