| Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population |
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| Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio |
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| Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity |
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| Transmission ratio distortion: review of concept and implications for genetic association studies |
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| Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans |
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| Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance |
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African |
| A large-scale meta-analysis of the association between the ANKK1/DRD2 Taq1A polymorphism and alcohol dependence |
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| Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study |
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African-American; Hispanic |
| A non-synonymous SNP in the NOS2 associated with septic shock in patients with sepsis in Chinese populations |
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| TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population |
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| Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population |
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| Polymorphisms of the Interleukin 6 gene contribute to cervical cancer susceptibility in Eastern Chinese women |
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| Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia |
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| Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome |
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| Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population |
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Chinese Han population |
| Genome-wide investigation of gene–environment interactions in colorectal cancer |
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| Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease |
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| Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study |
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| Positive natural selection of TRIB2, a novel gene that influences visceral fat accumulation, in East Asia |
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| Synergistical effect of 20-HETE and high salt on NKCC2 protein and blood pressure via ubiquitin–proteasome pathway |
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| Leon E. Rosenberg and Diane Drobnis Rosenberg: Human Genes and Genomes: Science, Health, Society |
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| Assessment of systematic effects of methodological characteristics on candidate genetic associations |
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| A dominant-negative mutation of HSF2 associated with idiopathic azoospermia |
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| Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans |
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✓ |
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Europeans |
| The population genetics of the Jewish people |
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| HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG) |
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| David Goldman: Our genes, our choices |
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| Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis |
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| Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy |
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| Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort |
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| Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome |
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| Familial prostate cancer and HOXB13 founder mutations: geographic and racial/ethnic variations |
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| Novel association of a PROC variant with ischemic stroke in a Chinese Han population |
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| Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD |
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| Association between TNFRSF11B gene polymorphisms and history of ischemic stroke in Italian diabetic patients |
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| Investigation of genetic risk factors for chronic adult diseases for association with preterm birth |
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| The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era |
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| A genome-wide association study of breast cancer in women of African ancestry |
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women of African ancestry |
| VKORC1 rs2359612C allele is associated with increased risk of coronary artery disease in the presence of coronary calcification |
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| Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection |
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| Study designs and methods post genome-wide association studies |
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| A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers |
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| Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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| Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization |
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| Genome-wide association study of glioma and meta-analysis |
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| A beginners guide to SNP calling from high-throughput DNA-sequencing data |
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| Genetics of familial forms of thrombocytopenia |
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| Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2 |
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| Causation and causal inference for genetic effects |
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| Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer |
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| Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet’s disease susceptibility |
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Chinese Han |
| Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset |
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| Network medicine: linking disorders |
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| Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts |
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| Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia |
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| Heritability in the genome-wide association era |
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| Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness |
✓ |
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| Genetic variation in MDR1, LPL and eNOS genes and the response to atorvastatin treatment in ischemic stroke |
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| Influences of FTO gene on onset age of adult overweight |
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| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa |
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| Integration of biological networks and pathways with genetic association studies |
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| Personalized medicine using DNA biomarkers: a review |
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| Challenges and opportunities in genome-wide environmental interaction (GWEI) studies |
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| Risk estimation and risk prediction using machine-learning methods |
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| Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21 |
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| Strong purifying selection against gene conversions in the trypsin genes of primates |
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| Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations |
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| The role of phenotype in gene discovery in the whole genome sequencing era |
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| Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium |
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| Identification of germline genomic copy number variation in familial pancreatic cancer |
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| Recommendations for ethical approaches to genotype-driven research recruitment |
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| Genome-wide genetic associations with IFNγ response to smallpox vaccine |
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| Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts |
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| Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study |
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| Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma |
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| The role of large pedigrees in an era of high-throughput sequencing |
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| Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction |
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| Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities |
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| Genome-wide association analysis of circulating vitamin D levels in children with asthma |
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| The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders |
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| Environmental epigenetics: prospects for studying epigenetic mediation of exposure–response relationships |
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| U-statistics in genetic association studies |
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| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients |
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| Reduced interferon (IFN)-α conditioned by IFNA2 (−173) and IFNA8 (−884) haplotypes is associated with enhanced susceptibility to severe malarial anemia and longitudinal all-cause mortality |
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| The genetics of addiction |
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| Mouse models of SMA: tools for disease characterization and therapeutic development |
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| The genetics of the opioid system and specific drug addictions |
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| Epidemiology of substance use disorders |
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| Genetics of smoking and depression |
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| A common genetic network underlies substance use disorders and disruptive or externalizing disorders |
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| The interplay of genes and adolescent development in substance use disorders: leveraging findings from GWAS meta-analyses to test developmental hypotheses about nicotine consumption |
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| Premature to conclude no genetic basis to the association between smoking and major depressive disorder |
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| McKinlay Gardner RJ, Sutherland GR, Shaffer LG: Chromosome abnormalities and genetic counselling |
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| Randall H. Morse (ed.): Chromatin remodelling: methods and protocols |
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| Further clarification of the contribution of the ADH1C gene to vulnerability of alcoholism and selected liver diseases |
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| Genomic rearrangements at the FRA2H common fragile site frequently involve non-homologous recombination events across LTR and L1(LINE) repeats |
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| Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case–control study in China |
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| Erratum to: Association between gout and polymorphisms in GCKR in male Han Chinese |
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✓ |
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Han Chinese |
| Using graded response model for the prediction of prostate cancer risk |
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| A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher |
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| Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population |
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| Coexisting mutations/polymorphisms of the long QT syndrome genes in patients with repaired Tetralogy of Fallot are associated with the risks of life-threatening events |
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| Adaptive evolution of loci covarying with the human African Pygmy phenotype |
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| Association between gout and polymorphisms in GCKR in male Han Chinese |
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| The prevalence of CD33 and MS4A6A variant in Chinese Han population with Alzheimer’s disease |
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| Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China |
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| NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy |
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| Genome-wide two-locus epistasis scans in prostate cancer using two European populations |
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✓ |
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European populations |
| Genetic variant in TP63 on locus 3q28 is associated with risk of lung adenocarcinoma among never-smoking females in Asia |
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| Evolutionary genetics of the human Rh blood group system |
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| Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations |
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| Cognitive and serum BDNF correlates of BDNF Val66Met gene polymorphism in patients with schizophrenia and normal controls |
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| Genetics of dopamine receptors and drug addiction |
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| Drosophila melanogaster as a model to study drug addiction |
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| Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes |
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| Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry |
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✓ |
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✓ |
|
European and Ashkenazi Jewish ancestry; Ashkenazi Jewish ancestry |
| Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines |
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| The human lactase persistence-associated SNP −13910*T enables in vivo functional persistence of lactase promoter–reporter transgene expression |
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| A multi-ethnic study of a PNPLA3 gene variant and its association with disease severity in non-alcoholic fatty liver disease |
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| A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms |
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| Unraveling the genetic component of systemic sclerosis |
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