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Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT. Sebastian S, et al. Among authors: schaefer fv. Clin Chem. 2004 Jan;50(1):251-4. doi: 10.1373/clinchem.2003.028068. Clin Chem. 2004. PMID: 14709668 No abstract available.
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Bernacki SH, et al. Among authors: schaefer fv. Clin Chem. 2005 Nov;51(11):2013-24. doi: 10.1373/clinchem.2005.048694. Epub 2005 Sep 15. Clin Chem. 2005. PMID: 16166172
Development of genomic reference materials for Huntington disease genetic testing.
Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Kalman L, et al. Genet Med. 2007 Oct;9(10):719-23. doi: 10.1097/gim.0b013e318156e8c1. Genet Med. 2007. PMID: 18073586 Free article.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.
Huntington disease: a detective story.
Schaefer FV, Floyd M, Say B. Schaefer FV, et al. J Okla State Med Assoc. 1992 May;85(5):223-6. J Okla State Med Assoc. 1992. PMID: 1387416
38 results