Nancy Jean Cox to Phenotype
This is a "connection" page, showing publications Nancy Jean Cox has written about Phenotype.
Connection Strength
2.590
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Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am J Hum Genet. 2014 Nov 06; 95(5):521-34.
Score: 0.273
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Gene and phenome-based analysis of the shared genetic architecture of eye diseases. Am J Hum Genet. 2025 Feb 06; 112(2):318-331.
Score: 0.139
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Genetic determinants and phenotypic consequences of blood T-cell proportions in 207,000 diverse individuals. Nat Commun. 2024 Aug 07; 15(1):6732.
Score: 0.134
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PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records. J Am Med Inform Assoc. 2020 11 01; 27(11):1675-1687.
Score: 0.104
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Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genet Med. 2020 07; 22(7):1191-1200.
Score: 0.100
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GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. Am J Hum Genet. 2019 03 07; 104(3):503-519.
Score: 0.092
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Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits. Pharmacogenomics J. 2016 08; 16(4):388-92.
Score: 0.072
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Structural architecture of SNP effects on complex traits. Am J Hum Genet. 2014 Nov 06; 95(5):477-89.
Score: 0.068
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Copy number polymorphisms and anticancer pharmacogenomics. Genome Biol. 2011; 12(5):R46.
Score: 0.054
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Genome-wide meta-analysis for severe diabetic retinopathy. Hum Mol Genet. 2011 Jun 15; 20(12):2472-81.
Score: 0.053
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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. PLoS Genet. 2011 Feb 03; 7(2):e1001292.
Score: 0.053
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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 2010 Apr 01; 6(4):e1000888.
Score: 0.050
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EndoPRS: Incorporating endophenotype information to improve polygenic risk scores for clinical endpoints-A study in asthma. Am J Hum Genet. 2025 May 01; 112(5):1199-1214.
Score: 0.035
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Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 Feb 06; 112(2):276-290.
Score: 0.035
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Human genetics: an expression of interest. Nature. 2004 Aug 12; 430(7001):733-4.
Score: 0.034
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Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. Nat Commun. 2024 Feb 03; 15(1):1016.
Score: 0.032
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Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. Blood Cells Mol Dis. 2023 11; 103:102782.
Score: 0.031
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The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci. Nat Comput Sci. 2023 05; 3(5):403-417.
Score: 0.031
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Can recovery from stuttering be considered a genetically milder subtype of stuttering? Behav Genet. 1983 Mar; 13(2):129-39.
Score: 0.030
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Exploring the genetics of rhythmic perception and musical engagement in the Vanderbilt Online Musicality Study. Ann N Y Acad Sci. 2023 03; 1521(1):140-154.
Score: 0.030
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A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes. Nat Metab. 2023 02; 5(2):237-247.
Score: 0.030
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Discerning asthma endotypes through comorbidity mapping. Nat Commun. 2022 11 07; 13(1):6712.
Score: 0.030
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Improving the computation efficiency of polygenic risk score modeling: faster in Julia. Life Sci Alliance. 2022 07 18; 5(12).
Score: 0.029
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Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Apr; 87(4):1669-73.
Score: 0.029
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Genome Med. 2021 10 29; 13(1):172.
Score: 0.028
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Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 10 07; 108(10):1836-1851.
Score: 0.028
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Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies. J Hum Genet. 2022 Feb; 67(2):87-93.
Score: 0.027
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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.
Score: 0.027
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Fate or coincidence: do COPD and major depression share genetic risk factors? Hum Mol Genet. 2021 05 12; 30(7):619-628.
Score: 0.027
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245.
Score: 0.027
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Alcohol and cigarette smoking consumption as genetic proxies for alcohol misuse and nicotine dependence. Drug Alcohol Depend. 2021 04 01; 221:108612.
Score: 0.026
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Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis. Arthritis Rheumatol. 2020 09; 72(9):1483-1492.
Score: 0.025
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Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet. 2000 Feb; 66(2):517-26.
Score: 0.025
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Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med. 2020 01; 26(1):98-109.
Score: 0.024
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A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189.
Score: 0.024
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Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Nat Commun. 2019 12 03; 10(1):5508.
Score: 0.024
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Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences. Nat Ecol Evol. 2019 11; 3(11):1598-1606.
Score: 0.024
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De novo pattern discovery enables robust assessment of functional consequences of non-coding variants. Bioinformatics. 2019 05 01; 35(9):1453-1460.
Score: 0.023
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LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. Circulation. 2018 10 23; 138(17):1839-1849.
Score: 0.023
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nat Genet. 2018 07; 50(7):956-967.
Score: 0.022
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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nat Commun. 2018 05 08; 9(1):1825.
Score: 0.022
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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 03 16; 359(6381):1233-1239.
Score: 0.022
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An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies. Genome Med. 2018 01 29; 10(1):7.
Score: 0.021
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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proc Natl Acad Sci U S A. 2018 01 09; 115(2):379-384.
Score: 0.021
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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PLoS One. 2017; 12(7):e0175508.
Score: 0.021
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Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues. PLoS Genet. 2016 Nov; 12(11):e1006423.
Score: 0.020
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STAMS: STRING-assisted module search for genome wide association studies and application to autism. Bioinformatics. 2016 12 15; 32(24):3815-3822.
Score: 0.019
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Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. Am J Hum Genet. 2016 Apr 07; 98(4):697-708.
Score: 0.019
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Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics J. 2017 03; 17(2):137-145.
Score: 0.019
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Localization of MODY3 to a 5-cM region of human chromosome 12. Diabetes. 1995 Dec; 44(12):1408-13.
Score: 0.018
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A gene-based association method for mapping traits using reference transcriptome data. Nat Genet. 2015 Sep; 47(9):1091-8.
Score: 0.018
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A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. Genes Brain Behav. 2015 Jun; 14(5):387-97.
Score: 0.018
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Genome-wide interrogation of longitudinal FEV1 in children with asthma. Am J Respir Crit Care Med. 2014 Sep 15; 190(6):619-27.
Score: 0.017
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Poly-omic prediction of complex traits: OmicKriging. Genet Epidemiol. 2014 Jul; 38(5):402-15.
Score: 0.017
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Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity. BMC Genomics. 2014 Apr 16; 15:292.
Score: 0.016
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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. Proc Natl Acad Sci U S A. 2014 Apr 22; 111(16):5968-73.
Score: 0.016
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Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature. 2014 Mar 20; 507(7492):371-5.
Score: 0.016
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Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients. Clin Pharmacol Ther. 2014 Jun; 95(6):644-52.
Score: 0.016
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Stuttering: a complex behavioral disorder for our times? Am J Med Genet. 1993 Dec 15; 48(4):177-8.
Score: 0.016
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Quantitative allelic test--a fast test for very large association studies. Genet Epidemiol. 2013 Dec; 37(8):831-9.
Score: 0.016
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet. 2013 Oct; 9(10):e1003864.
Score: 0.016
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Genome-wide association studies in pharmacogenomics: successes and lessons. Pharmacogenet Genomics. 2013 Aug; 23(8):383-94.
Score: 0.016
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Influenza A virus haemagglutinin polymorphism: pleiotropic antigenic variants of A/Shanghai/11/87 (H3N2) virus selected as high yield reassortants. J Gen Virol. 1993 Jul; 74 ( Pt 7):1311-6.
Score: 0.016
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Segregation analysis of speech and language disorders. Behav Genet. 1993 May; 23(3):291-7.
Score: 0.015
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Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. Blood. 2013 May 23; 121(21):4366-76.
Score: 0.015
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An exponential combination procedure for set-based association tests in sequencing studies. Am J Hum Genet. 2012 Dec 07; 91(6):977-86.
Score: 0.015
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Variants affecting exon skipping contribute to complex traits. PLoS Genet. 2012; 8(10):e1002998.
Score: 0.015
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Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol. 2012 Jan; 36(1):22-35.
Score: 0.014
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Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. PLoS One. 2011; 6(7):e21920.
Score: 0.014
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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). Virology. 2011 Apr 10; 412(2):297-305.
Score: 0.013
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Parent-of-origin effects of the serotonin transporter gene associated with autism. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar; 156(2):139-44.
Score: 0.013
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Interaction of prenatal exposure to cigarettes and MAOA genotype in pathways to youth antisocial behavior. Mol Psychiatry. 2010 Sep; 15(9):928-37.
Score: 0.012
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Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 05; 147B(7):1116-25.
Score: 0.011
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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. Diabetologia. 2005 Oct; 48(10):2018-24.
Score: 0.009
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Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21. Am J Hum Genet. 2005 Feb; 76(2):349-57.
Score: 0.009
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Genome scan for loci linked to mite sensitivity: the Collaborative Study on the Genetics of Asthma (CSGA). Genes Immun. 2004 May; 5(3):226-31.
Score: 0.008
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Genetic Analysis Workshop II: results of segregation analyses using POINTER and linkage analyses using LIPED. Genet Epidemiol. 1984; 1(2):167-70.
Score: 0.008
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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. Diabetes. 2002 Dec; 51(12):3561-7.
Score: 0.007
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Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Sep; 87(9):4297-300.
Score: 0.007
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Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar; 84(3):1061-71.
Score: 0.006
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Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998 Sep; 7(9):1393-8.
Score: 0.006
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Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21.
Score: 0.004