Genetic Association Studies Concept

subject area of

• COL4A2 is associated with lacunar ischemic stroke and deep ICH  Journal Articles
• Per3 length polymorphism in patients with type 2 diabetes mellitus  Journal Articles
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Journal Articles
• A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor  Journal Articles
• A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families  Journal Articles
• A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility  Journal Articles
• A framework for an evidence-based gene list relevant to autism spectrum disorder  Journal Articles
• A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders  Journal Articles
• A large-scale candidate gene association study of age at menarche and age at natural menopause  Journal Articles
• A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics  Journal Articles
• A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease  Journal Articles
• A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene  Journal Articles
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Journal Articles
• A review of the associations between single nucleotide polymorphisms in taste receptors, eating behaviors, and health  Journal Articles
• AGTR1 gene variation: Association with depression and frontotemporal morphology  Journal Articles
• Advances in Genomic Analysis of Stroke  Journal Articles
• An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases  Conferences
• Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool  Journal Articles
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Journal Articles
• Association between high expression macrophage migration inhibitory factor (MIF) alleles and West Nile virus encephalitis  Journal Articles
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Journal Articles
• Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome  Journal Articles
• Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis  Journal Articles
• Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses  Journal Articles
• Autism Spectrum Disorders and Epigenetics  Journal Articles
• Benefits and limitations of genome-wide association studies  Journal Articles
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Journal Articles
• Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis  Journal Articles
• Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population  Journal Articles
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1  Journal Articles
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study  Journal Articles
• Common coding variant in SERPINA1 increases the risk for large artery stroke  Journal Articles
• Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation  Journal Articles
• Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection  Journal Articles
• DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients  Journal Articles
• De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder  Journal Articles
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Journal Articles
• Decreased comfort food intake and allostatic load in adolescents carrying the A3669G variant of the glucocorticoid receptor gene  Journal Articles
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Journal Articles
• Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes  Journal Articles
• Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution  Journal Articles
• Effect of Genetic Variants Associated With Plasma Homocysteine Levels on Stroke Risk  Journal Articles
• Empirical evaluation of the Q-Genie tool: a protocol for assessment of effectiveness  Journal Articles
• Evaluation of the Disease Liability of CFTR Variants  Journal Articles
• Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium  Journal Articles
• Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients  Journal Articles
• Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry  Journal Articles
• Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations  Journal Articles
• Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial  Journal Articles
• Genetic basis of delay discounting in frequent gamblers: examination of a priori candidates and exploration of a panel of dopamine‐related loci  Journal Articles
• Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study  Journal Articles
• Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status  Journal Articles
• Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome  Journal Articles
• Genotype-phenotype correlations in recessive RYR1-related myopathies  Journal Articles
• Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency  Journal Articles
• HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis  Journal Articles
• Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• Heart rate variability in leucine‐rich repeat kinase 2‐associated Parkinson's disease  Journal Articles
• Hierarchical investigation of genetic influences on response inhibition in healthy young adults.  Journal Articles
• IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis  Journal Articles
• Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study  Journal Articles
• KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases  Journal Articles
• Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations  Journal Articles
• L. rhamnosus improves the immune response and tryptophan catabolism in laying hen pullets  Journal Articles
• Longitudinal Data Analysis in Genome‐Wide Association Studies  Journal Articles
• Maternal childhood adversity and child temperament: An association moderated by child 5‐HTTLPR genotype  Journal Articles
• Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF  Journal Articles
• Moderating effect of PLIN4 genetic variant on impulsivity traits in 5-year-old-children born small for gestational age  Journal Articles
• Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia  Journal Articles
• Molecular structural analysis of a novel and de‐novo mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency  Journal Articles
• Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study  Journal Articles
• Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly  Journal Articles
• Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases  Journal Articles
• Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome  Journal Articles
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Journal Articles
• Obesity Genes and Risk of Major Depressive Disorder in a Multiethnic Population  Journal Articles
• On the Use of Variance per Genotype as a Tool to Identify Quantitative Trait Interaction Effects: A Report from the Women's Genome Health Study  Journal Articles
• Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders  Journal Articles
• Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome  Journal Articles
• Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization  Journal Articles
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Journal Articles
• Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder  Journal Articles
• Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder  Journal Articles
• Physical activity and genetic predisposition to obesity in a multiethnic longitudinal study  Journal Articles
• PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure  Journal Articles
• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders  Journal Articles
• Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene  Journal Articles
• Preventing Alzheimer's disease and cognitive decline.  Journal Articles
• Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities  Journal Articles
• Recommendations From the International Stroke Genetics Consortium, Part 2  Journal Articles
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Journal Articles
• Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study  Journal Articles
• Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti  Journal Articles
• SNPs in DNA repair or oxidative stress genes and late subcutaneous fibrosis in patients following single shot partial breast irradiation  Journal Articles
• Single Nucleotide Polymorphisms Alter the Promoter Activity of Bovine MIF  Journal Articles
• Single Nucleotide Polymorphisms in Taste Receptor Genes Are Associated with Snacking Patterns of Preschool-Aged Children in the Guelph Family Health Study: A Pilot Study  Journal Articles
• Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern  Journal Articles
• StrandAdvantage test for early‐line and advanced‐stage treatment decisions in solid tumors  Journal Articles
• Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis  Journal Articles
• Testing genotypes-phenotype relationships using permutation tests on association rules  Journal Articles
• The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders  Journal Articles
• The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study  Journal Articles
• The Human Ortholog of Acid-Sensing Ion Channel Gene ASIC1a Is Associated With Panic Disorder and Amygdala Structure and Function  Journal Articles
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Journal Articles
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Journal Articles
• Thrombus stability explains the factor V Leiden paradox: a mouse model  Journal Articles
• Transformation of the Anticancer Drug Doxorubicin in the Human Gut Microbiome  Journal Articles
• What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations  Journal Articles
• α⁰-Thalassemia Due to a 90.7 kb Deletion (– –^NFLD)  Journal Articles