Search Results - "Blue, Elizabeth"

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome by Zhou, Hufeng, Arapoglou, Theodore, Li, Xihao, Li, Zilin, Zheng, Xiuwen, Moore, Jill, Asok, Abhijith, Kumar, Sushant, Blue, Elizabeth E, Buyske, Steven, Cox, Nancy, Felsenfeld, Adam, Gerstein, Mark, Kenny, Eimear, Li, Bingshan, Matise, Tara, Philippakis, Anthony, Rehm, Heidi L, Sofia, Heidi J, Snyder, Grace, Weng, Zhiping, Neale, Benjamin, Sunyaev, Shamil R, Lin, Xihong

“…Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a multitude of coding and non-coding variants. They provide an unprecedented…”
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8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer by Dupont, William D., Breyer, Joan P., Plummer, W. Dale, Chang, Sam S., Cookson, Michael S., Smith, Joseph A., Blue, Elizabeth E., Bamshad, Michael J., Smith, Jeffrey R.

“…The 8q24 genomic locus is tied to the origin of numerous cancers. We investigate its contribution to hereditary prostate cancer (HPC) in independent study…”
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Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics by Blue, Elizabeth E., Horimoto, Andréa R.V.R., Mukherjee, Shubhabrata, Wijsman, Ellen M., Thornton, Timothy A.

“…Although the relationship between APOE and Alzheimer's disease (AD) is well established in populations of European descent, the effects of APOE and ancestry on…”
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Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis by Aksit, Melis A., Ling, Hua, Pace, Rhonda G., Raraigh, Karen S., Onchiri, Frankline, Faino, Anna V., Pagel, Kymberleigh, Pugh, Elizabeth, Stilp, Adrienne M., Sun, Quan, Blue, Elizabeth E., Wright, Fred A., Zhou, Yi-Hui, Bamshad, Michael J., Gibson, Ronald L., Knowles, Michael R., Cutting, Garry R., Blackman, Scott M., Aksit, Melis A., Bamshad, Michael J., Blackman, Scott M., Blue, Elizabeth, Buckingham, Kati, Chong, Jessica X., Collaco, J. Michael, Cutting, Garry R., Dang, Hong, Eastman, Alice, Faino, Anna, Gallins, Paul J., Gibson, Ronald, Godwin, Beth, Gordon, William W., Hetrick, Kurt, Huang, Le, Knowles, Michael R., Lam, Anh-Thu N., Ling, Hua, Liu, Weifang, Li, Yun, Onchiri, Frankline, O'Neal, Wanda K., Pace, Rhonda G., Pagel, Kymberleigh, Porter, Mark, Pugh, Elizabeth, Raraigh, Karen S., Mikeasky, Rebekah, Rosenfeld, Margaret, Rosen, Jonathan, Stilp, Adrienne, Stonebraker, Jaclyn R., Sun, Quan, Wen, Jia, Wright, Fred A., Yang, Yingxi, Zhang, Peng, Zhang, Yan, Zhou, Yi-Hui

“…Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic…”
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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients by Zhou, Yi-Hui, Gallins, Paul J, Pace, Rhonda G, Dang, Hong, Aksit, Melis A, Blue, Elizabeth E, Buckingham, Kati J, Collaco, Joseph M, Faino, Anna V, Gordon, William W, Hetrick, Kurt N, Ling, Hua, Liu, Weifang, Onchiri, Frankline M, Pagel, Kymberleigh, Pugh, Elizabeth W, Raraigh, Karen S, Rosenfeld, Margaret, Sun, Quan, Wen, Jia, Li, Yun, Corvol, Harriet, Strug, Lisa J, Bamshad, Michael J, Blackman, Scott M, Cutting, Garry R, Gibson, Ronald L, O'Neal, Wanda K, Wright, Fred A, Knowles, Michael R

“…Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR (CF…”
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Non‐coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women by Blue, Elizabeth E., Thornton, Timothy A., Kooperberg, Charles, Liu, Simin, Wactawski‐Wende, Jean, Manson, JoAnn, Kuller, Lew, Hayden, Kathleen, Reiner, Alexander P.

“…Introduction Recent studies suggest that both sex‐specific genetic risk factors and those shared between dementia and stroke are involved in dementia…”
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Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing by Rolf, Bradley, Blue, Elizabeth E., Bucks, Stephanie, Dorschner, Michael O., Jayadev, Suman

“…Genetic testing has become routine for many inherited conditions; however, little is known about the unique issues that arise when offering genetic testing for…”
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The Genetic Landscape of Familial Pulmonary Fibrosis by Liu, Qi, Zhou, Yuan, Cogan, Joy D, Mitchell, Daphne B, Sheng, Quanhu, Zhao, Shilin, Bai, Youhuang, Ciombor, Kristen K, Sabusap, Carleen M, Malabanan, M Merced, Markin, Cheryl R, Douglas, Katrina, Ding, Guixiao, Banovich, Nicholas E, Nickerson, Deborah A, Blue, Elizabeth E, Bamshad, Michael J, Brown, Kevin K, Schwartz, David A, Phillips, 3rd, John A, Martinez-Barricarte, Ruben, Salisbury, Margaret L, Shyr, Yu, Loyd, James E, Kropski, Jonathan A, Blackwell, Timothy S

“…Up to 20% of idiopathic interstitial lung disease is familial, referred to as familial pulmonary fibrosis (FPF). An integrated analysis of FPF genetic risk was…”
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A Statistical Framework to Guide Sequencing Choices in Pedigrees by Cheung, Charles Y.K., Marchani Blue, Elizabeth, Wijsman, Ellen M.

“…The use of large pedigrees is an effective design for identifying rare functional variants affecting heritable traits. Cost-effective studies using sequence…”
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Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics by Horimoto, Andréa R V R, Xue, Diane, Thornton, Timothy A, Blue, Elizabeth E

“…Genetic studies have primarily been conducted in European ancestry populations, identifying dozens of loci associated with late-onset Alzheimer's disease (AD)…”
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Functional annotation of genomic variants in studies of late-onset Alzheimer's disease by Butkiewicz, Mariusz, Blue, Elizabeth E, Leung, Yuk Yee, Jian, Xueqiu, Marcora, Edoardo, Renton, Alan E, Kuzma, Amanda, Wang, Li-San, Koboldt, Daniel C, Haines, Jonathan L, Bush, William S

“…Abstract Motivation Annotation of genomic variants is an increasingly important and complex part of the analysis of sequence-based genomic analyses…”
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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation by Truong, Brittany T, Shull, Lomeli C, Lencer, Ezra, Bend, Eric G, Field, Michael, Blue, Elizabeth E, Bamshad, Michael J, Skinner, Cindy, Everman, David, Schwartz, Charles E, Flanagan-Steet, Heather, Artinger, Kristin B

“…Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown…”
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Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants by Sok, Pagna, Sabo, Aniko, Almli, Lynn M., Jenkins, Mary M., Nembhard, Wendy N., Agopian, A. J., Bamshad, Michael J., Blue, Elizabeth E., Brody, Lawrence C., Brown, Austin L., Browne, Marilyn L., Canfield, Mark A., Carmichael, Suzan L., Chong, Jessica X., Dugan‐Perez, Shannon, Feldkamp, Marcia L., Finnell, Richard H., Gibbs, Richard A., Kay, Denise M., Lei, Yunping, Meng, Qingchang, Moore, Cynthia A., Mullikin, James C., Muzny, Donna, Olshan, Andrew F., Pangilinan, Faith, Reefhuis, Jennita, Romitti, Paul A., Schraw, Jeremy M., Shaw, Gary M., Werler, Martha M., Harpavat, Sanjiv, Lupo, Philip J.

“…The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein‐altering variants (PAVs). Exome sequencing data from the…”
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Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data by Wang, Yanbing, Sarnowski, Chloé, Lin, Honghuang, Pitsillides, Achilleas N., Heard‐Costa, Nancy L., Choi, Seung Hoan, Wang, Dongyu, Bis, Joshua C., Blue, Elizabeth E., Boerwinkle, Eric, De Jager, Philip L., Fornage, Myriam, Wijsman, Ellen M., Seshadri, Sudha, Dupuis, Josée, Peloso, Gina M., DeStefano, Anita L.

“…INTRODUCTION Genome‐wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or…”
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Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19 by Sun, Quan, Rowland, Bryce, Wang, Wanjiang, Miller-Fleming, Tyne W., Cox, Nancy, Graff, Misa, Faucon, Annika, Shuey, Megan M., Blue, Elizabeth E., Auer, Paul, Li, Yun, Sankaran, Vijay G., Reiner, Alexander P., Raffield, Laura M.

“…People hospitalized with COVID-19 often exhibit altered hematological traits associated with disease prognosis (e.g., lower lymphocyte and platelet counts). We…”
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The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data by Xue, Diane, Blue, Elizabeth E., Conomos, Matthew P., Fohner, Alison E.

“…INTRODUCTION Alzheimer's disease (AD) is a complex disease influenced by genetics and environment. More than 75 susceptibility loci have been linked to…”
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Addition of N−H and O−H Bonds of Amines and Alcohols to Electron-Deficient Olefins Catalyzed by Monomeric Copper(I) Systems:  Reaction Scope, Mechanistic Details, and Comparison of Catalyst Efficiency by Munro-Leighton, Colleen, Delp, Samuel A, Blue, Elizabeth D, Gunnoe, T. Brent

“…Monomeric copper(I) amido, alkoxide, and aryloxide complexes catalyze the addition of N−H and O−H bonds of amines and alcohols, respectively, to…”
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Club cell secretory protein and lung function in children with cystic fibrosis by Zhai, Jing, Emond, Mary J., Spangenberg, Amber, Stern, Debra A., Vasquez, Monica M., Blue, Elizabeth E., Buckingham, Kati J., Sherrill, Duane L., Halonen, Marilyn, Gibson, Ronald L., Rosenfeld, Margaret, Sagel, Scott D., Bamshad, Michael J., Morgan, Wayne J., Guerra, Stefano

“…Club cell secretory protein (CC16) exerts anti-inflammatory functions in lung disease. We sought to determine the relation of serum CC16 deficits and genetic…”
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Human microglia show unique transcriptional changes in Alzheimer's disease by Prater, Katherine E, Green, Kevin J, Mamde, Sainath, Sun, Wei, Cochoit, Alexandra, Smith, Carole L, Chiou, Kenneth L, Heath, Laura, Rose, Shannon E, Wiley, Jesse, Keene, C Dirk, Kwon, Ronald Y, Snyder-Mackler, Noah, Blue, Elizabeth E, Logsdon, Benjamin, Young, Jessica E, Shojaie, Ali, Garden, Gwenn A, Jayadev, Suman

“…Microglia, the innate immune cells of the brain, influence Alzheimer's disease (AD) progression and are potential therapeutic targets. However, microglia…”
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Association of Pseudomonas aeruginosa infection stage with lung function trajectory in children with cystic fibrosis by Rosenfeld, Margaret, Faino, Anna V, Qu, Pingping, Onchiri, Frankline M, Blue, Elizabeth E, Collaco, Joseph M, Gordon, William W, Szczesniak, Rhonda, Zhou, Yi-Hui, Bamshad, Michael J, Gibson, Ronald L

“…Pseudomonas aeruginosa (Pa) infection in cystic fibrosis (CF) is characterized in stages: never (prior to first positive culture) to incident (first positive…”
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