Progress in methods for rare variant association

Por Santorico, Stephanie A., Hendricks, Audrey E.
Publicado no BMC Genet (2016)

Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels

Por Razzaghi, Hamid, Santorico, Stephanie A., Kamboh, M. Ilyas
Publicado em 2012

Use of admixture and association for detection of quantitative trait loci in the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples (T2D-GENES) stu...

Por Yorgov, Daniel, Edwards, Karen L, Santorico, Stephanie A
Publicado em 2014

Statistics for Next Generation Sequencing – Meeting Report

Por Wu, Hao, Wu, Michael C., Zhi, Degui, Santorico, Stephanie A., Cui, Xiangqin
Publicado em 2012

Denver Papillae Protocol for Objective Analysis of Fungiform Papillae

Por Nuessle, Tiffany M., Garneau, Nicole L., Sloan, Meghan M., Santorico, Stephanie A.
Publicado no J Vis Exp (2015)

Genetic and Structure-Function Studies of Missense Mutations in Human Endothelial Lipase

Por Razzaghi, Hamid, Tempczyk-Russell, Anna, Haubold, Kurt, Santorico, Stephanie A., Shokati, Touraj, Christians, Uwe, Churchill, Mair E. A.
Publicado em 2013

Crowdsourcing taste research: genetic and phenotypic predictors of bitter taste perception as a model

Por Garneau, Nicole L., Nuessle, Tiffany M., Sloan, Meghan M., Santorico, Stephanie A., Coughlin, Bridget C., Hayes, John E.
Publicado em 2014

Reply to M Gotteland and F Magne

Por Friedman, Jacob E, Young, Bridget E, Lemas, Dominick J, Barbour, Linda A, Frank, Daniel N, Santorico, Stephanie A
Publicado no Am J Clin Nutr (2017)

Effects of Vaccination with 10-Valent Pneumococcal Non-Typeable Haemophilus influenza Protein D Conjugate Vaccine (PHiD-CV) on the Nasopharyngeal Microbiome of Kenyan Toddlers

Por Feazel, Leah M., Santorico, Stephanie A., Robertson, Charles E., Bashraheil, Mahfudh, Scott, J. Anthony G., Frank, Daniel N., Hammitt, Laura L.
Publicado no PLoS One (2015)

Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo

Por Hayashi, Masahiro, Jin, Ying, Yorgov, Daniel, Santorico, Stephanie A., Hagman, James, Ferrara, Tracey M., Jones, Kenneth L., Cavalli, Giulio, Dinarello, Charles A., Spritz, Richard A.
Publicado no Proc Natl Acad Sci U S A (2016)

Human Facial Shape and Size Heritability and Genetic Correlations

Por Cole, Joanne B., Manyama, Mange, Larson, Jacinda R., Liberton, Denise K., Ferrara, Tracey M., Riccardi, Sheri L., Li, Mao, Mio, Washington, Klein, Ophir D., Santorico, Stephanie A., Hallgrímsson, Benedikt, Spritz, Richard A.
Publicado no Genetics (2017)

MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo

Por Cavalli, Giulio, Hayashi, Masahiro, Jin, Ying, Yorgov, Daniel, Santorico, Stephanie A., Holcomb, Cherie, Rastrou, Melinda, Erlich, Henry, Tengesdal, Isak W., Dagna, Lorenzo, Neff, C. Preston, Palmer, Brent E., Spritz, Richard A., Dinarello, Charles A.
Publicado no Proc Natl Acad Sci U S A (2016)

Rapid automated landmarking for morphometric analysis of three‐dimensional facial scans

Por Li, Mao, Cole, Joanne B., Manyama, Mange, Larson, Jacinda R., Liberton, Denise K., Riccardi, Sheri L., Ferrara, Tracey M., Santorico, Stephanie A., Bannister, Jordan J., Forkert, Nils D., Spritz, Richard A., Mio, Washington, Hallgrimsson, Benedikt
Publicado no J Anat (2017)

Genetic Analysis Workshop 19: methods and strategies for analyzing human sequence and gene expression data in extended families and unrelated individuals

Por Engelman, Corinne D., Greenwood, Celia M. T., Bailey, Julia N., Cantor, Rita M., Kent, Jack W., König, Inke R., Bermejo, Justo Lorenzo, Melton, Phillip E., Santorico, Stephanie A., Schillert, Arne, Wijsman, Ellen M., MacCluer, Jean W., Almasy, Laura
Publicado no BMC Proc (2016)

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

Por Cole, Joanne B., Manyama, Mange, Kimwaga, Emmanuel, Mathayo, Joshua, Larson, Jacinda R., Liberton, Denise K., Lukowiak, Ken, Ferrara, Tracey M., Riccardi, Sheri L., Li, Mao, Mio, Washington, Prochazkova, Michaela, Williams, Trevor, Li, Hong, Jones, Kenneth L., Klein, Ophir D., Santorico, Stephanie A., Hallgrimsson, Benedikt, Spritz, Richard A.
Publicado no PLoS Genet (2016)

Alterations in human milk leptin and insulin are associated with early changes in the infant intestinal microbiome(1)(2)

Por Lemas, Dominick J, Young, Bridget E, Baker, Peter R, Tomczik, Angela C, Soderborg, Taylor K, Hernandez, Teri L, de la Houssaye, Becky A, Robertson, Charles E, Rudolph, Michael C, Ir, Diana, Patinkin, Zachary W, Krebs, Nancy F, Santorico, Stephanie A, Weir, Tiffany, Barbour, Linda A, Frank, Daniel N, Friedman, Jacob E
Publicado no Am J Clin Nutr (2016)

Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees

Por Bickeböller, Heike, Bailey, Julia N, Beyene, Joseph, Cantor, Rita M, Cordell, Heather J, Culverhouse, Robert C, Engelman, Corinne D, Fardo, David W, Ghosh, Saurabh, König, Inke R, Lorenzo Bermejo, Justo, Melton, Phillip E, Santorico, Stephanie A, Satten, Glen A, Sun, Lei, Tintle, Nathan L, Ziegler, Andreas, MacCluer, Jean W, Almasy, Laura
Publicado em 2014

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

Por Shaffer, John R., Orlova, Ekaterina, Lee, Myoung Keun, Leslie, Elizabeth J., Raffensperger, Zachary D., Heike, Carrie L., Cunningham, Michael L., Hecht, Jacqueline T., Kau, Chung How, Nidey, Nichole L., Moreno, Lina M., Wehby, George L., Murray, Jeffrey C., Laurie, Cecelia A., Laurie, Cathy C., Cole, Joanne, Ferrara, Tracey, Santorico, Stephanie, Klein, Ophir, Mio, Washington, Feingold, Eleanor, Hallgrimsson, Benedikt, Spritz, Richard A., Marazita, Mary L., Weinberg, Seth M.
Publicado no PLoS Genet (2016)

Cluster Analysis in the COPDGene Study Identifies Subtypes of Smokers with Distinct Patterns of Airway Disease and Emphysema

Por Castaldi, Peter J, Dy, Jennifer, Ross, James, Chang, Yale, Washko, George R, Curran-Everett, Douglas, Williams, Andre, Lynch, David A, Make, Barry J, Crapo, James D, Bowler, Russ P, Regan, Elizabeth A, Hokanson, John E, Kinney, Greg L, Han, Meilan K, Soler, Xavier, Ramsdell, Joseph W, Barr, R Graham, Foreman, Marilyn, van Beek, Edwin, Casaburi, Richard, Criner, Gerald J, Lutz, Sharon M, Rennard, Steven I, Santorico, Stephanie, Sciurba, Frank C, DeMeo, Dawn L, Hersh, Craig P, Silverman, Edwin K, Cho, Michael H
Publicado em 2014

Prediction of Acute Respiratory Disease in Current and Former Smokers With and Without COPD

Por Bowler, Russell P., Kim, Victor, Regan, Elizabeth, Williams, André A. A., Santorico, Stephanie A., Make, Barry J., Lynch, David A., Hokanson, John E., Washko, George R., Bercz, Peter, Soler, Xavier, Marchetti, Nathaniel, Criner, Gerard J., Ramsdell, Joe, Han, MeiLan K., Demeo, Dawn, Anzueto, Antonio, Comellas, Alejandro, Crapo, James D., Dransfield, Mark, Wells, J. Michael, Hersh, Craig P., MacIntyre, Neil, Martinez, Fernando, Nath, Hrudaya P., Niewoehner, Dennis, Sciurba, Frank, Sharafkhaneh, Amir, Silverman, Edwin K., van Beek, Edwin J. R., Wilson, Carla, Wendt, Christine, Wise, Robert A.
Publicado em 2014