Research Faculty

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Publications
Selected Publications

Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M., and Lupski, J.R.: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics 15: 236-246, 1997. 

Allikmets, R., Shroyer, N.F., Singh, N., Seddon, J.M., Lewis, R.A., Bernstein, P., Peiffer A., Zabriskie, N., Li, Y., Hutchinson, A., Dean, M., Lupski, J.R., and Leppert, M.: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807, 1997. 

Allikmets, R. and the International ABCR Screening Consortium: Further evidence of an association of ABCR alleles with age-related macular degeneration. Am. J. Hum. Genet. 67: 487-491, 2000.

Allikmets, R. Simple and complex ABCR: genetic predisposition to retinal disease. Am. J. Hum. Genetics 67:793-799, 2000. 

Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M.L., Allikmets, R., Zack, D.J., Kakuk, L.E., Lagali, P.S., Wong, P.S., MacDonald, I.M., Sieving, P.A., Figueroa, D., Austin, C.P., Gould, R.J., Ayyagari, R., and Petrukhin, K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics 27: 89-93, 2001. 

Dean, M., Rzhetsky, A., and Allikmets, R. The Human ATP-Binding Cassette (ABC) Transporter Superfamily. Genome Res. 11:1156-1166, 2001.

Jaakson, K., Zernant, J., Külm, M., Hutchinson, A., Tonisson, N, Hawlina, M., Ravnic-Glavac, M., Glavac, D., Meltzer, M., Caruso, R., Testa, F., Maugeri, A., Hoyng, C.B., Gouras, P., Simonelli, F., Lewis, R.A. Lupski, J.R., Cremers, F.P.M., and Allikmets, R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Human Mutation 22:395-403, 2003.

Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L.S., Taiber, A.J., Hardisty, L.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M., Smith, R.J., Silvestri, G., Russell, S.R., Klaver, C.C.W., Barbazetto, I., Chang, S., Yannuzzi, L.A., Barile, G.R., Merriam, J.C., Smith, R.T., Olsh, A.K., Bergeron, J., Zernant, J., Merriam, J.E., Gold, B., Dean, M. and Allikmets R.  A common haplotype in the complement regulatory gene, factor H (HF1/CFH), predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA 102:7227-7232, 2005.

Zernant, J., Külm, M., Dharmaraj, S., den Hollander, A.I., Perrault, I., Preising, M.N., Lorenz, B., Kaplan, J., Cremers, F.P.M., Maumenee, I., Koenekoop, R.K., and Allikmets, R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.  Invest. Ophthalmol. Vis. Sci. 46:3052-3059, 2005.

Maiti, P., Kong, J., Kim, S.R., Sparrow, J.R., Allikmets, R., and Rando, R.R. Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation. Biochemistry, 45:852-860, 2006.

Gold, B., Merriam, J.E., Zernant, J., Hancox, L.S., Taiber, A.J., Gehrs, K.M., Cramer, K., Neel, J., Bergeron, J., Barile, G.R., Smith, R.T., the AMD Genetics Clinical Study Group, Hageman, G.S., Dean, M. and Allikmets R.  Variation in the Factor B (BF) and Complement Component 2 (C2) Genes in the MHC Class III Locus is Associated with Age-related Macular Degeneration. Nature Genetics 38:458-642, 2006.