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164 results

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Page 1
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: saunders cj. 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.
Next-generation community genetics for low- and middle-income countries.
Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ. Kingsmore SF, et al. Among authors: saunders cj. Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012. Genome Med. 2012. PMID: 22458566 Free PMC article.
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Badolato R, et al. Among authors: saunders cj. Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. Blood. 2012. PMID: 22461475 Free article. No abstract available.
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Saunders CJ, et al. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. Sci Transl Med. 2012. PMID: 23035047 Free PMC article.
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Dinwiddie DL, Bracken JM, Bass JA, Christenson K, Soden SE, Saunders CJ, Miller NA, Singh V, Zwick DL, Roberts CC, Dalal J, Kingsmore SF. Dinwiddie DL, et al. Among authors: saunders cj. Genomics. 2013 Nov-Dec;102(5-6):442-7. doi: 10.1016/j.ygeno.2013.08.008. Epub 2013 Aug 31. Genomics. 2013. PMID: 24001973 Free PMC article.
164 results