Genetic Association Studies
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COL4A2 is associated with lacunar ischemic stroke and deep ICH Academic Article
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TSPEARvariants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Academic Article
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A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor Academic Article
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A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families Academic Article
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A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility Academic Article
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A framework for an evidence-based gene list relevant to autism spectrum disorder Academic Article
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Academic Article
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A large-scale candidate gene association study of age at menarche and age at natural menopause Academic Article
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A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics Academic Article
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A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease Academic Article
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A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy Academic Article
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A review of the associations between single nucleotide polymorphisms in taste receptors, eating behaviors, and health Academic Article
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AGTR1 gene variation: Association with depression and frontotemporal morphology Academic Article
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Advances in Genomic Analysis of Stroke Academic Article
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An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases Conference Paper
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Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool Academic Article
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Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation Academic Article
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Association between high expression macrophage migration inhibitory factor (MIF) alleles and West Nile virus encephalitis Academic Article
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Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry Academic Article
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Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome Academic Article
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Association of Granulomatosis With Polyangiitis (Wegener's) WithHLA-DPB1*04andSEMA6AGene Variants: Evidence From Genome-Wide Analysis Academic Article
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Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses Academic Article
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Autism Spectrum Disorders and Epigenetics Academic Article
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Benefits and limitations of genome-wide association studies Academic Article
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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Academic Article
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Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Academic Article
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Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population Academic Article
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Challenges in reproducibility of genetic association studies: lessons learned from the obesity field Academic Article
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Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1 Academic Article
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Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study Academic Article
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Common coding variant in
SERPINA1
increases the risk for large artery stroke Academic Article
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Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Academic Article
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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection Academic Article
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DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients Academic Article
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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
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Decreased comfort food intake and allostatic load in adolescents carrying the A3669G variant of the glucocorticoid receptor gene Academic Article
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article
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Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing Academic Article
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
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Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution Academic Article
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Effect of Genetic Variants Associated With Plasma Homocysteine Levels on Stroke Risk Academic Article
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Empirical evaluation of the Q-Genie tool: a protocol for assessment of effectiveness Academic Article
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Evaluation of the Disease Liability of CFTR Variants Academic Article
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Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium Academic Article
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Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients Academic Article
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Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry Academic Article
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Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations Academic Article
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Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial Academic Article
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Genetic basis of delay discounting in frequent gamblers: examination of a priori candidates and exploration of a panel of dopamine‐related loci Academic Article
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Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study Academic Article
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Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status Academic Article
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Genotype and phenotype in 12 additional individuals with SATB2
-associated syndrome Academic Article
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Genotype-phenotype correlations in recessive RYR1-related myopathies Academic Article
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Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency Academic Article
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HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis Academic Article
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Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation Academic Article
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Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the locus control region Academic Article
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Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease Academic Article
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Hierarchical investigation of genetic influences on response inhibition in healthy young adults. Academic Article
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IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis Academic Article
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Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study Academic Article
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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 Academic Article
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KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases Academic Article
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Krüppel-like factor 1: hematologic phenotypes associated withKLF1gene mutations Academic Article
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L. rhamnosus improves the immune response and tryptophan catabolism in laying hen pullets Academic Article
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Longitudinal Data Analysis in Genome-Wide Association Studies Academic Article
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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features Academic Article
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Maternal childhood adversity and child temperament: An association moderated by child 5-HTTLPR genotype Academic Article
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Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF Academic Article
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Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia Academic Article
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Molecular structural analysis of a novel and de-novo mutation in theSERPINC1gene associated with type 1 antithrombin deficiency Academic Article
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Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study Academic Article
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Academic Article
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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Academic Article
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Natural history and genotype‐phenotype correlations in 72 individuals with
SATB2
‐associated syndrome Academic Article
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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
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Obesity Genes and Risk of Major Depressive Disorder in a Multiethnic Population Academic Article
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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 Academic Article
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Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders Academic Article
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Academic Article
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Per3 length polymorphism in patients with type 2 diabetes mellitus Academic Article
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Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg) Academic Article
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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Academic Article
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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Academic Article
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Physical activity and genetic predisposition to obesity in a multiethnic longitudinal study Academic Article
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PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure Academic Article
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders Academic Article
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Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Academic Article
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Preventing Alzheimer's disease and cognitive decline. Academic Article
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Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities Academic Article
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Recommendations From the International Stroke Genetics Consortium, Part 2 Academic Article
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Academic Article
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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 Academic Article
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Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti Academic Article
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SNPs in DNA repair or oxidative stress genes and late subcutaneous fibrosis in patients following single shot partial breast irradiation Academic Article
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Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population Academic Article
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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1 Academic Article
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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 Academic Article
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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Academic Article
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StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors Academic Article
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Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis Academic Article
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Testing genotypes-phenotype relationships using permutation tests on association rules Academic Article
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The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders Academic Article
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The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study Academic Article
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The Human Ortholog of Acid-Sensing Ion Channel Gene ASIC1a Is Associated With Panic Disorder and Amygdala Structure and Function Academic Article
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The MC4R p.Ile269Asn mutation confers a high risk for type 2 diabetes in the Mexican population via obesity dependent and independent effects Academic Article
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The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome Academic Article
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
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Thrombus stability explains the factor V Leiden paradox: a mouse model Academic Article
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Transformation of the Anticancer Drug Doxorubicin in the Human Gut Microbiome Academic Article
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What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations Academic Article
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α0-Thalassemia Due to a 90.7 kb Deletion (– –NFLD) Academic Article