Progress in methods for rare variant association

por Santorico, Stephanie A., Hendricks, Audrey E.
Publicado 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 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 2014

Statistics for Next Generation Sequencing – Meeting Report

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

Denver Papillae Protocol for Objective Analysis of Fungiform Papillae

por Nuessle, Tiffany M., Garneau, Nicole L., Sloan, Meghan M., Santorico, Stephanie A.
Publicado 2015

Taste Responses to Linoleic Acid: A Crowdsourced Population Study

por Garneau, Nicole L, Nuessle, Tiffany M, Tucker, Robin M, Yao, Mengjie, Santorico, Stephanie A, Mattes, Richard D
Publicado 2017

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 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 2014

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 2015

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

por Hendricks, Audrey E., Billups, Stephen C., Pike, Hamish N. C., Farooqi, I. Sadaf, Zeggini, Eleftheria, Santorico, Stephanie A., Barroso, Inês, Dupuis, Josée
Publicado 2018

Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study

por Wan, Jia Y., Goodman, Deborah L., Willems, Emileigh L., Freedland, Alexis R., Norden-Krichmar, Trina M., Santorico, Stephanie A., Edwards, Karen L.
Publicado 2021

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans

por Null, Megan, Yilmaz, Feyza, Astling, David, Yu, Hung-Chun, Cole, Joanne B., Hallgrímsson, Benedikt, Santorico, Stephanie A., Spritz, Richard A., Shaikh, Tamim H., Hendricks, Audrey E.
Publicado 2021

Genome-wide copy number variations in a large cohort of bantu African children

por Yilmaz, Feyza, Null, Megan, Astling, David, Yu, Hung-Chun, Cole, Joanne, Santorico, Stephanie A., Hallgrimsson, Benedikt, Manyama, Mange, Spritz, Richard A., Hendricks, Audrey E., Shaikh, Tamim H.
Publicado 2021

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

por Jin, Ying, Roberts, Genevieve H. L., Ferrara, Tracey M., Ben, Songtao, van Geel, Nanja, Wolkerstorfer, Albert, Ezzedine, Khaled, Siebert, Janet, Neff, Charles P., Palmer, Brent E., Santorico, Stephanie A., Spritz, Richard A.
Publicado 2019

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 2016

Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA)

por Wang, Zhe, Manichukal, Ani, Goff, David C., Mora, Samia, Ordovas, Jose M., Pajewski, Nicholas M., Post, Wendy S., Rotter, Jerome I., Sale, Michele M., Santorico, Stephanie A., Siscovick, David, Tsai, Michael Y., Arnett, Donna K., Rich, Stephen, Frazier-Wood, Alexis C.
Publicado 2017

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 2016

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk

por Pouget, Jennie G, Han, Buhm, Wu, Yang, Mignot, Emmanuel, Ollila, Hanna M, Barker, Jonathan, Spain, Sarah, Dand, Nick, Trembath, Richard, Martin, Javier, Mayes, Maureen D, Bossini-Castillo, Lara, López-Isac, Elena, Jin, Ying, Santorico, Stephanie A, Spritz, Richard A, Hakonarson, Hakon, Polychronakos, Constantin, Raychaudhuri, Soumya, Knight, Jo
Publicado 2019

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 2014

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

por Jin, Ying, Andersen, Genevieve, Yorgov, Daniel, Ferrara, Tracey M, Ben, Songtao, Brownson, Kelly M, Holland, Paulene J, Birlea, Stanca A, Siebert, Janet, Hartmann, Anke, Lienert, Anne, van Geel, Nanja, Lambert, Jo, Luiten, Rosalie M, Wolkerstorfer, Albert, van der Veen, JP Wietze, Bennett, Dorothy C, Taïeb, Alain, Ezzedine, Khaled, Kemp, E Helen, Gawkrodger, David J, Weetman, Anthony P, Kõks, Sulev, Prans, Ele, Kingo, Külli, Karelson, Maire, Wallace, Margaret R, McCormack, Wayne T, Overbeck, Andreas, Moretti, Silvia, Colucci, Roberta, Picardo, Mauro, Silverberg, Nanette B, Olsson, Mats, Valle, Yan, Korobko, Igor, Böhm, Markus, Lim, Henry W., Hamzavi, Iltefat, Zhou, Li, Mi, Qing-Sheng, Fain, Pamela R., Santorico, Stephanie A, Spritz, Richard A
Publicado 2016