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Genetic Analysis Workshop 19: methods and strategies for analyzing human sequence and gene expression data in extended families and unrelated individuals.
Engelman CD, Greenwood CM, Bailey JN, Cantor RM, Kent JW Jr, König IR, Bermejo JL, Melton PE, Santorico SA, Schillert A, Wijsman EM, MacCluer JW, Almasy L. Engelman CD, et al. Among authors: santorico sa. BMC Proc. 2016 Oct 18;10(Suppl 7):67-70. doi: 10.1186/s12919-016-0007-z. eCollection 2016. BMC Proc. 2016. PMID: 27980613 Free PMC article.
Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees.
Bickeböller H, Bailey JN, Beyene J, Cantor RM, Cordell HJ, Culverhouse RC, Engelman CD, Fardo DW, Ghosh S, König IR, Lorenzo Bermejo J, Melton PE, Santorico SA, Satten GA, Sun L, Tintle NL, Ziegler A, MacCluer JW, Almasy L. Bickeböller H, et al. Among authors: santorico sa. BMC Proc. 2014 Jun 17;8(Suppl 1):S1. doi: 10.1186/1753-6561-8-S1-S1. eCollection 2014. BMC Proc. 2014. PMID: 25519310 Free PMC article.
Progress in methods for rare variant association.
Santorico SA, Hendricks AE. Santorico SA, et al. BMC Genet. 2016 Feb 3;17 Suppl 2(Suppl 2):6. doi: 10.1186/s12863-015-0316-7. BMC Genet. 2016. PMID: 26866487 Free PMC article.
Genome-wide copy number variations in a large cohort of bantu African children.
Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Yilmaz F, et al. Among authors: santorico sa. BMC Med Genomics. 2021 May 17;14(1):129. doi: 10.1186/s12920-021-00978-z. BMC Med Genomics. 2021. PMID: 34001112 Free PMC article.
The genetic architecture of vitiligo.
Roberts GHL, Santorico SA, Spritz RA. Roberts GHL, et al. Among authors: santorico sa. Pigment Cell Melanoma Res. 2020 Jan;33(1):8-15. doi: 10.1111/pcmr.12848. Epub 2019 Dec 4. Pigment Cell Melanoma Res. 2020. PMID: 31743585 Free PMC article. Review.
MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo.
Cavalli G, Hayashi M, Jin Y, Yorgov D, Santorico SA, Holcomb C, Rastrou M, Erlich H, Tengesdal IW, Dagna L, Neff CP, Palmer BE, Spritz RA, Dinarello CA. Cavalli G, et al. Among authors: santorico sa. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1363-8. doi: 10.1073/pnas.1523482113. Epub 2016 Jan 19. Proc Natl Acad Sci U S A. 2016. PMID: 26787888 Free PMC article.
Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo.
Hayashi M, Jin Y, Yorgov D, Santorico SA, Hagman J, Ferrara TM, Jones KL, Cavalli G, Dinarello CA, Spritz RA. Hayashi M, et al. Among authors: santorico sa. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1357-62. doi: 10.1073/pnas.1525001113. Epub 2016 Jan 19. Proc Natl Acad Sci U S A. 2016. PMID: 26787886 Free PMC article.
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