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Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. Krafchak CM, et al. Among authors: epstein mp. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14. Am J Hum Genet. 2005. PMID: 16252232 Free PMC article.
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.
Watanabe RM, Ghosh S, Langefeld CD, Valle TT, Hauser ER, Magnuson VL, Mohlke KL, Silander K, Ally DS, Chines P, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, Kaleta HS, Lange EM, Li C, McEachin RC, Stringham HM, Trager E, White PP, Balow J Jr, Birznieks G, Chang J, Eldridge W. Watanabe RM, et al. Among authors: epstein mp. Am J Hum Genet. 2000 Nov;67(5):1186-200. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11032784 Free PMC article.
Ascertainment-adjusted parameter estimates revisited.
Epstein MP, Lin X, Boehnke M. Epstein MP, et al. Am J Hum Genet. 2002 Apr;70(4):886-95. doi: 10.1086/339517. Epub 2002 Mar 5. Am J Hum Genet. 2002. PMID: 11880949 Free PMC article.
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.
Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager EH, Reed DM, Boehnke M, Moroi SE, Richards JE. Shimizu S, et al. Among authors: epstein mp. Am J Med Genet A. 2004 Nov 1;130A(4):372-7. doi: 10.1002/ajmg.a.30267. Am J Med Genet A. 2004. PMID: 15384081 Free PMC article.
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants.
Broadaway KA, Cutler DJ, Duncan R, Moore JL, Ware EB, Jhun MA, Bielak LF, Zhao W, Smith JA, Peyser PA, Kardia SLR, Ghosh D, Epstein MP. Broadaway KA, et al. Among authors: epstein mp. Am J Hum Genet. 2016 Mar 3;98(3):525-540. doi: 10.1016/j.ajhg.2016.01.017. Am J Hum Genet. 2016. PMID: 26942286 Free PMC article.
153 results