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Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: stone em. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140
Variations in the myocilin gene in patients with open-angle glaucoma.
Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Alward WL, et al. Among authors: stone em. Arch Ophthalmol. 2002 Sep;120(9):1189-97. doi: 10.1001/archopht.120.9.1189. Arch Ophthalmol. 2002. PMID: 12215093
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: stone em. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 Free PMC article.
Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.
O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, Braun TA. O'Leary BM, et al. Among authors: stone em. J Bioinform Comput Biol. 2007 Dec;5(6):1155-72. doi: 10.1142/s0219720007003132. J Bioinform Comput Biol. 2007. PMID: 18172923
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Tucker BA, et al. Among authors: stone em. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E569-76. doi: 10.1073/pnas.1108918108. Epub 2011 Aug 8. Proc Natl Acad Sci U S A. 2011. PMID: 21825139 Free PMC article.
610 results