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Page 1
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Lucas CL, et al. Among authors: butrick m. J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8. J Exp Med. 2014. PMID: 25488983 Free PMC article.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA. Milner JD, et al. Among authors: butrick m. Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30. Blood. 2015. PMID: 25359994 Free PMC article. Clinical Trial.
Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling.
Butrick M, Kelly S, Peshkin BN, Luta G, Nusbaum R, Hooker GW, Graves K, Feeley L, Isaacs C, Valdimarsdottir HB, Jandorf L, DeMarco T, Wood M, McKinnon W, Garber J, McCormick SR, Schwartz MD. Butrick M, et al. Genet Med. 2015 Jun;17(6):467-75. doi: 10.1038/gim.2014.125. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232856 Free PMC article. Clinical Trial.
Behavioral and psychosocial responses to genomic testing for colorectal cancer risk.
Graves KD, Leventhal KG, Nusbaum R, Salehizadeh Y, Hooker GW, Peshkin BN, Butrick M, Tuong W, Mathew J, Goerlitz D, Fishman MB, Shields PG, Schwartz MD. Graves KD, et al. Among authors: butrick m. Genomics. 2013 Aug;102(2):123-30. doi: 10.1016/j.ygeno.2013.04.002. Epub 2013 Apr 11. Genomics. 2013. PMID: 23583311 Free PMC article.
Translational Genomic Research: Protocol Development and Initial Outcomes following SNP Testing for Colon Cancer Risk.
Nusbaum R, Leventhal KG, Hooker GW, Peshkin BN, Butrick M, Salehizadeh Y, Tuong W, Eggly S, Mathew J, Goerlitz D, Shields PG, Schwartz MD, Graves KD. Nusbaum R, et al. Among authors: butrick m. Transl Behav Med. 2013 Mar 1;3(1):17-29. doi: 10.1007/s13142-012-0149-0. Epub 2012 Jun 10. Transl Behav Med. 2013. PMID: 23565131 Free PMC article.