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Page 1
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. Bowne SJ, et al. Among authors: slifer s. Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654732 Free PMC article.
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.
Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley J, Finch KL, Stevens JF, Livak KJ, Slotterbeck BD, Slifer SH, Warren LL, Conneally PM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM. Martin ER, et al. Among authors: slifer sh. Am J Hum Genet. 2000 Aug;67(2):383-94. doi: 10.1086/303003. Epub 2000 Jun 21. Am J Hum Genet. 2000. PMID: 10869235 Free PMC article.
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. Deak KL, et al. Among authors: slifer sh. Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883837 Free PMC article.
Maternal lineages and Alzheimer disease risk in the Old Order Amish.
van der Walt JM, Scott WK, Slifer S, Gaskell PC, Martin ER, Welsh-Bohmer K, Creason M, Crunk A, Fuzzell D, McFarland L, Kroner CC, Jackson CE, Haines JL, Pericak-Vance MA. van der Walt JM, et al. Among authors: slifer s. Hum Genet. 2005 Oct;118(1):115-22. doi: 10.1007/s00439-005-0032-x. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078048
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA. Ma D, et al. Ann Hum Genet. 2009 May;73(Pt 3):263-73. doi: 10.1111/j.1469-1809.2009.00523.x. Ann Hum Genet. 2009. PMID: 19456320 Free PMC article.
55 results