Search Results - "Kitchner, Terrie E."
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PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies
Published in Nature communications (27-10-2017)“…Genome-wide, imputed, sequence, and structural data are now available for exceedingly large sample sizes. The needs for data management, handling population…”
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2
A GWAS Study on Liver Function Test Using eMERGE Network Participants
Published in PloS one (28-09-2015)“…Liver enzyme levels and total serum bilirubin are under genetic control and in recent years genome-wide population-based association studies have identified…”
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Intraocular Pressure Response to Medication in a Clinical Setting: The Marshfield Clinic Personalized Medicine Research Project
Published in Journal of glaucoma (01-08-2008)“…PURPOSETo estimate glaucoma and ocular hypertension prevalence and to describe temporal trends in prescribing patterns and intraocular pressure (IOP) response…”
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Desiderata for computable representations of electronic health records-driven phenotype algorithms
Published in Journal of the American Medical Informatics Association : JAMIA (01-11-2015)“…Background Electronic health records (EHRs) are increasingly used for clinical and translational research through the creation of phenotype algorithms…”
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5
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
Published in American journal of human genetics (01-10-2015)“…Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr…”
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CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease
Published in Journal of neurosurgery (01-06-2016)“…OBJECT Symptomatic intracranial atherosclerotic disease (ICAD) has a high risk of recurrent stroke. Genetic polymorphisms in CYP2C19 and CES1 are associated…”
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Enrichment sampling for a multi-site patient survey using electronic health records and census data
Published in Journal of the American Medical Informatics Association : JAMIA (01-03-2019)“…We describe a stratified sampling design that combines electronic health records (EHRs) and United States Census (USC) data to construct the sampling frame and…”
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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes
Published in Molecular vision (17-10-2016)“…The gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in have been mainly reported in recessive pediatric ocular…”
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Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy
Published in PloS one (01-06-2015)“…Vancomycin, a commonly used antibiotic, can be nephrotoxic. Known risk factors such as age, creatinine clearance, vancomycin dose / dosing interval, and…”
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10
CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids
Published in Immunity, Inflammation and Disease (01-12-2015)“…Inhaled corticosteroids (ICS) are the most effective controller medications for asthma, and variability in ICS response is associated with genetic variation…”
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A novel gene–environment interaction involved in endometriosis
Published in International journal of gynecology and obstetrics (01-01-2012)“…Abstract Objective To establish a well-defined cohort for genetic epidemiology studies of endometriosis and conduct a pilot study to confirm validity using…”
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Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
Published in American journal of human genetics (02-03-2017)“…Individuals participating in biobanks and other large research projects are increasingly asked to provide broad consent for open-ended research use and…”
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Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration: A Mendelian Randomization Study
Published in JAMA ophthalmology (01-12-2021)“…Advanced age-related macular degeneration (AMD) is a leading cause of blindness in Western countries. Causal, modifiable risk factors need to be identified to…”
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Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
Published in JAMA : the journal of the American Medical Association (05-01-2016)“…IMPORTANCE: Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical…”
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Probing the Virtual Proteome to Identify Novel Disease Biomarkers
Published in Circulation (New York, N.Y.) (27-11-2018)“…BACKGROUND:Proteomic approaches allow measurement of thousands of proteins in a single specimen, which can accelerate biomarker discovery. However, applying…”
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Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration
Published in Investigative ophthalmology & visual science (03-09-2019)“…Age-related macular degeneration (AMD) is the worldwide leading cause of blindness among the elderly. Although genome-wide association studies (GWAS) have…”
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Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
Published in Genome medicine (27-03-2017)“…Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors…”
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A polymorphism in HLA-G modifies statin benefit in asthma
Published in The pharmacogenomics journal (01-06-2015)“…Several reports have shown that statin treatment benefits patients with asthma; however, inconsistent effects have been observed. The mir-152 family (148a,…”
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Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy: e0127791
Published in PloS one (01-06-2015)“…Vancomycin, a commonly used antibiotic, can be nephrotoxic. Known risk factors such as age, creatinine clearance, vancomycin dose / dosing interval, and…”
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