Search Results - "Mayo, Ping"
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Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study
Published in PLoS genetics (01-12-2014)“…We performed a Phenome-wide association study (PheWAS) utilizing diverse genotypic and phenotypic data existing across multiple populations in the National…”
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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Published in Molecular genetics & genomic medicine (01-12-2022)“…Background A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder,…”
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Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration
Published in Human genetics (01-05-2010)“…Controversy remains as to which gene at the chromosome 10q26 locus confers risk for age-related macular degeneration (AMD) and statistical genetic analysis is…”
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4
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers
Published in PloS one (12-12-2013)“…Alzheimer disease (AD) is a devastating neurodegenerative disease affecting more than five million Americans. In this study, we have used updated genetic…”
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Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
Published in Human genetics (01-11-2012)“…Both environmental and genetic factors impact lipid traits. Environmental modifiers of known genotype–phenotype associations may account for some of the…”
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Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study
Published in BMC genetics (11-01-2013)“…Although smoking behavior is known to affect body mass index (BMI), the potential for smoking to influence genetic associations with BMI is largely unexplored…”
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Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β
Published in Brain (London, England : 1878) (01-04-2015)“…Genetic and environmental factors that increase the risk of late-onset Alzheimer disease are now well recognized but the cause of variable progression rates…”
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Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study
Published in Circulation. Cardiovascular genetics (01-12-2014)“…BACKGROUND—A founder mutation was recently discovered and described as conferring favorable lipid profiles and reduced subclinical atherosclerotic disease in a…”
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Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration
Published in Human genetics (01-05-2010)“…Controversy remains as to which gene at the chromosome 10q26 locus confers risk for age-related macular degeneration (AMD) and statistical genetic analysis is…”
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Journal Article -
10
Detection of pleiotropy through a Phenome-wide association study study
Published in PLoS genetics (01-12-2014)“…We performed a Phenome-wide association study (PheWAS) utilizing diverse genotypic and phenotypic data existing across multiple populations in the National…”
Get full text
Journal Article -
11
Detection of Pleiotropy through a Phenome-Wide Association Study (PheWAS) of Epidemiologic Data as Part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study: e1004678
Published in PLoS genetics (01-12-2014)“…We performed a Phenome-wide association study (PheWAS) utilizing diverse genotypic and phenotypic data existing across multiple populations in the National…”
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Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
Published in BMC genetics (21-11-2013)“…Gallstone disease is one of the most common digestive disorders, affecting more than 30 million Americans. Previous twin studies suggest a heritability of 25%…”
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Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys
Published in Human genetics (12-06-2012)Get full text
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CNV analysis using TaqMan copy number assays
Published in Current protocols in human genetics (01-10-2010)“…Copy number variations are important polymorphisms that can influence the expression of genes within and close to the rearranged region. This allows…”
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KIAA1462, A Coronary Artery Disease Associated Gene, Is a Candidate Gene for Late Onset Alzheimer Disease in APOE Carriers: e82194
Published in PloS one (01-12-2013)“…Alzheimer disease (AD) is a devastating neurodegenerative disease affecting more than five million Americans. In this study, we have used updated genetic…”
Get full text
Journal Article