| Item Type | Name |
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Concept
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Phenotype
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Academic Article
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Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
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Academic Article
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Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma.
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Academic Article
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Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.
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Academic Article
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Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.
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Academic Article
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Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.
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Academic Article
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Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians.
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Academic Article
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Genetic Analysis Workshop II: results of segregation analyses using POINTER and linkage analyses using LIPED.
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Academic Article
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Genome scan for loci linked to mite sensitivity: the Collaborative Study on the Genetics of Asthma (CSGA).
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Academic Article
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Human genetics: an expression of interest.
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Academic Article
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The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population.
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Academic Article
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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.
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Academic Article
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Genetic bases of the temperature-sensitive phenotype of a master donor virus used in live attenuated influenza vaccines: A/Leningrad/134/17/57 (H2N2).
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Academic Article
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Genome-wide meta-analysis for severe diabetic retinopathy.
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Academic Article
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The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.
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Academic Article
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Segregation analysis of speech and language disorders.
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Academic Article
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Interaction of prenatal exposure to cigarettes and MAOA genotype in pathways to youth antisocial behavior.
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Academic Article
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Parent-of-origin effects of the serotonin transporter gene associated with autism.
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Academic Article
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Copy number polymorphisms and anticancer pharmacogenomics.
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Academic Article
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Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.
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Academic Article
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Variants affecting exon skipping contribute to complex traits.
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Academic Article
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Influenza A virus haemagglutinin polymorphism: pleiotropic antigenic variants of A/Shanghai/11/87 (H3N2) virus selected as high yield reassortants.
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Academic Article
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Stuttering: a complex behavioral disorder for our times?
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Academic Article
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Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
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Academic Article
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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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Academic Article
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Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
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Academic Article
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Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.
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Academic Article
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Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans.
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Academic Article
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Can recovery from stuttering be considered a genetically milder subtype of stuttering?
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Academic Article
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Localization of MODY3 to a 5-cM region of human chromosome 12.
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Academic Article
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An exponential combination procedure for set-based association tests in sequencing studies.
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Academic Article
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Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients.
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Academic Article
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Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data.
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Academic Article
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Genome-wide interrogation of longitudinal FEV1 in children with asthma.
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Academic Article
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Poly-omic prediction of complex traits: OmicKriging.
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Academic Article
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Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity.
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Academic Article
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Genome-wide association studies in pharmacogenomics: successes and lessons.
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Academic Article
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Structural architecture of SNP effects on complex traits.
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Academic Article
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Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait.
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Academic Article
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
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Academic Article
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Quantitative allelic test--a fast test for very large association studies.
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Academic Article
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Obesity-associated variants within FTO form long-range functional connections with IRX3.
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Academic Article
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Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients.
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Academic Article
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Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.
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Academic Article
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A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13.
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Academic Article
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A gene-based association method for mapping traits using reference transcriptome data.
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Academic Article
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Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx.
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Academic Article
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Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits.
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Academic Article
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Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines.
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Academic Article
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Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues.
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Academic Article
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STAMS: STRING-assisted module search for genome wide association studies and application to autism.
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Academic Article
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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.
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Academic Article
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
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Academic Article
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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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Academic Article
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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
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Academic Article
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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
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Academic Article
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An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.
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Academic Article
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LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
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Academic Article
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De novo pattern discovery enables robust assessment of functional consequences of non-coding variants.
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Academic Article
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GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
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Academic Article
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Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences.
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Academic Article
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Estimating heritability and genetic correlations from large health datasets in the absence of genetic data.
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Academic Article
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A brief history of human disease genetics.
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Academic Article
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Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
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Academic Article
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Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.
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Academic Article
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Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis.
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Academic Article
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PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records.
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Academic Article
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Alcohol and cigarette smoking consumption as genetic proxies for alcohol misuse and nicotine dependence.
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Academic Article
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Fate or coincidence: do COPD and major depression share genetic risk factors?
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Academic Article
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
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Academic Article
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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing.
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Academic Article
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Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.
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Academic Article
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Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
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Academic Article
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
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Academic Article
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Exploration of an alternative to body mass index to characterize the relationship between height and weight for prediction of metabolic phenotypes and cardiovascular outcomes.
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Academic Article
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Improving the computation efficiency of polygenic risk score modeling: faster in Julia.
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Academic Article
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Discerning asthma endotypes through comorbidity mapping.
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Academic Article
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A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes.
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Academic Article
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Exploring the genetics of rhythmic perception and musical engagement in the Vanderbilt Online Musicality Study.
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Academic Article
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Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19.
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Academic Article
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The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci.
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Academic Article
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Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI.
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