Publications

Publications

Balasubramanian, S., Lei, J., Nittala, M. G., Velaga, S. B., Haines, J., Pericak-Vance, M. A., … & Sadda, S. R. (2017). Association of Drusen Volume with Choroidal Parameters in Nonneovascular Age-Related Macular Degeneration. Retina.

Sardell, R. J., Nittala, M. G., Adams, L. D., Laux, R. A., Bailey, J. N. C., Fuzzell, D., … & Mackay, T. (2016). Heritability of Choroidal Thickness in the Amish. Ophthalmology, 123(12), 2537-2544.

Sardell, R. J., Persad, P. J., Pan, S. S., Whitehead, P., Adams, L. D., Laux, R. A., … & Agarwal, A. (2016). Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH LocusGenetic Risk Factors and AMD Progression Rate. Investigative Ophthalmology & Visual Science, 57(14), 6107-6115.

Sardell, R. J., Bailey, J. N. C., Courtenay, M. D., Whitehead, P., Laux, R. A., Adams, L. D., … & Agarwal, A. (2016). Whole exome sequencing of extreme age-related macular degeneration phenotypes. Molecular vision, 22, 1062.

Cooke Bailey, J. N., Hoffman, J. D., Sardell, R. J., Scott, W. K., Pericak-Vance, M. A., & Haines, J. L. (2016). The application of genetic risk scores in age-related macular degeneration: a review. Journal of clinical medicine,5(3), 31.

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., … & Kim, I. K. (2016). A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature genetics, 48(2), 134-143.

Hall, J. B., Bailey, J. N. C., Hoffman, J. D., Pericak-Vance, M. A., Scott, W. K., Kovach, J. L., … & Bush, W. S. (2015). Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models. BMC bioinformatics, 16(1), 329.

Ratnapriya, R., Zhan, X., Fariss, R. N., Branham, K. E., Zipprer, D., Chakarova, C. F., … & Maminishkis, A. (2014). Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human molecular genetics, 23(21), 5827-5837.

Bailey, J. N. C., Pericak-Vance, M. A., & Haines, J. L. (2014). Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. Cold Spring Harbor perspectives in medicine, 4(12), a017186.

Bailey, J. N. C., Pericak-Vance, M. A., & Haines, J. L. (2014). The impact of the human genome project on complex disease. Genes, 5(3), 518-535.

Courtenay, M. D., Cade, W. H., Schwartz, S. G., Kovach, J. L., Agarwal, A., Wang, G., … & Scott, W. K. (2014). Set-Based Joint Test of Interaction Between SNPs in the VEGF Pathway and Exogenous Estrogen Finds Association With Age-Related Macular DegenerationSNPs in VEGF Pathway and Estrogen Related to AMD. Investigative ophthalmology & visual science, 55(8), 4873-4879.

Hoffman, J. D., CookeBailey, J. N., D’Aoust, L., Cade, W., Ayala-Haedo, J., Fuzzell, D., … & Whitehead-Gay, P. (2014). Rare Complement Factor H Variant Associated With Age-Related Macular Degeneration in the AmishAMD Rare Variant Analysis in the Amish. Investigative ophthalmology & visual science, 55(7), 4455-4460.

Zhan, X., Larson, D. E., Wang, C., Koboldt, D. C., Sergeev, Y. V., Fulton, R. S., … & Jun, G. (2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature genetics, 45(11), 1375-1379.

Bailey, J. N. C., Sobrin, L., Pericak-Vance, M. A., Haines, J. L., Hammond, C. J., & Wiggs, J. L. (2013). Advances in the genomics of common eye diseases. Human molecular genetics, 22(R1), R59-R65.

Wang, G., Dubovy, S. R., Kovach, J. L., Schwartz, S. G., Agarwal, A., Scott, W. K., … & Pericak-Vance, M. A. (2013). Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina. Experimental eye research, 112, 102-105.

Wang, G., Scott, W. K., Agarwal, A., Haines, J. L., & Pericak-Vance, M. A. (2013). Coding variants in ARMS2 and the risk of age-related macular degeneration. JAMA ophthalmology, 131(6), 804-805.

Naj, A. C., Scott, W. K., Courtenay, M. D., Cade, W. H., Schwartz, S. G., Kovach, J. L., … & Pericak‐Vance, M. A. (2013). Genetic Factors in Nonsmokers with Age‐Related Macular Degeneration Revealed Through Genome‐Wide Gene‐Environment Interaction Analysis. Annals of human genetics, 77(3), 215-231.

AMD Gene Consortium. (2013). Seven new loci associated with age-related macular degeneration. Nature genetics, 45(4), 433-439.

Schwartz, S. G., Agarwal, A., Kovach, J. L., Gallins, P. J., Cade, W., Postel, E. A., … & Pericak-Vance, M. A. (2012). The ARMS2 A69S variant and bilateral advanced age-related macular degeneration. Retina (Philadelphia, Pa.), 32(8), 1486.

Spencer, K. L., Olson, L. M., Schnetz-Boutaud, N., Gallins, P., Wang, G., Scott, W. K., … & Gorin, M. B. (2011). Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. Investigative ophthalmology & visual science, 52(3), 1748-1754.

Spencer, K. L., Olson, L. M., Schnetz-Boutaud, N., Gallins, P., Agarwal, A., Iannaccone, A., … & Scott, W. K. (2011). Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration. PloS one, 6(3), e17784.

Ayala‐Haedo, J. A., Gallins, P. J., Whitehead, P. L., Schwartz, S. G., Kovach, J. L., Postel, E. A., … & Scott, W. K. (2010). Analysis of Single Nucleotide Polymorphisms in the NOS2A Gene and Interaction with Smoking in Age‐Related Macular Degeneration. Annals of human genetics, 74(3), 195-201.

Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., … & Tan, P. L. (2010). Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration. Proceedings of the National Academy of Sciences,107(16), 7401-7406.

Wang, G., Spencer, K. L., Scott, W. K., Whitehead, P., Ayala-Haedo, J., Mayo, P., … & Agarwal, A. (2010). Analysis of the indel at the ARMS2 3′ UTR in age-related macular degeneration. Human genetics, 127(5), 595-602.

Montgomery, M. P., Kamel, F., Pericak-Vance, M. A., Haines, J. L., Postel, E. A., Agarwal, A., … & Schmidt, S. (2010). Overall diet quality and age-related macular degeneration. Ophthalmic epidemiology, 17(1), 58-65.

Wang, G., Spencer, K. L., Olson, L. M., Scott, W. K., Haines, J. L., & Pericak-Vance, M. A. (2009). Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Investigative ophthalmology & visual science, 50(7), 3084-3090.

Spencer, K. L., Olson, L. M., Anderson, B. M., Schnetz-Boutaud, N., Scott, W. K., Gallins, P., … & Haines, J. L. (2008). C3 R102G polymorphism increases risk of age-related macular degeneration. Human molecular genetics, 17(12), 1821-1824.

Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., … & Sternberg Jr, P. (2008). Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS One, 3(5), e2091.

Spencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P., … & Haines, J. L. (2008). Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Human molecular genetics, 17(7), 971-977.

Shuler, R. K., Schmidt, S., Gallins, P., Hauser, M. A., Scott, W. K., Caldwell, J., … & Postel, E. A. (2008). Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration. Ophthalmology, 115(3), 520-524.

Shuler, R. K., Schmidt, S., Gallins, P., Hauser, M. A., Scott, W. K., Caldwell, J., … & Postel, E. A. (2008). Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.American journal of ophthalmology, 145(2), 303-307.

Spencer, K. L., Hauser, M. A., Olson, L. M., Schnetz-Boutaud, N., Scott, W. K., Schmidt, S., … & Haines, J. L. (2007). Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. Investigative ophthalmology & visual science, 48(9), 4277-4283.

Spencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P., … & Haines, J. L. (2007). Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Human molecular genetics, 16(16), 1986-1992.

Scott, W. K., Schmidt, S., Hauser, M. A., Gallins, P., Schnetz-Boutaud, N., Spencer, K. L., … & Pericak-Vance, M. A. (2007). Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. Ophthalmology, 114(6), 1151-1156.

Haines, J. L., & Pericak-Vance, M. A. (2007). Rapid dissection of the genetic risk of age-related macular degeneration. Jama, 297(4), 401-402.

Shuler, R. K., Hauser, M. A., Caldwell, J., Gallins, P., Schmidt, S., Scott, W. K., … & Postel, E. A. (2007). Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Archives of Ophthalmology, 125(1), 63-67.

Postel, E. A., Agarwal, A., Caldwell, J., Gallins, P., Toth, C., Schmidt, S., … & Pericak-Vance, M. A. (2006). Complement factor H increases risk for atrophic age-related macular degeneration. Ophthalmology, 113(9), 1504-1507.

Schmidt, S., Hauser, M. A., Scott, W. K., Postel, E. A., Agarwal, A., Gallins, P., … & Haines, J. L. (2006). Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. The American Journal of Human Genetics, 78(5), 852-864.

Haines, J. L., Schnetz-Boutaud, N., Schmidt, S., Scott, W. K., Agarwal, A., Postel, E. A., … & Pericak-Vance, M. A. (2006). Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Investigative ophthalmology & visual science, 47(1), 329-335.

Schmidt, S., Haines, J. L., Postel, E. A., Agarwal, A., Kwan, S. Y., Gilbert, J. R., … & Scott, W. K. (2005). Joint effects of smoking history and APOE genotypes in age-related macular degeneration. Mol Vis, 11, 941-949.

Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., … & Schultz, D. W. (2005). Meta-analysis of genome scans of age-related macular degeneration. Human molecular genetics, 14(15), 2257-2264.

Postel, E. A., Agarwal, A., Schmidt, S., Fan, Y. T. R., Scott, W. K., Gilbert, J. R., … & Pericak-Vance, M. A. (2005). Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.American journal of ophthalmology, 139(5), 820-825.

Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., … & Schnetz-Boutaud, N. (2005). Complement factor H variant increases the risk of age-related macular degeneration. Science, 308(5720), 419-421.

Weeks, D. E., Conley, Y. P., Tsai, H. J., Mah, T. S., Schmidt, S., Postel, E. A., … & Paul, T. O. (2004). Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. The American Journal of Human Genetics, 75(2), 174-189.

Schmidt, S., Scott, W. K., Postel, E. A., Agarwal, A., Hauser, E. R., De La Paz, M. A., … & Pericak-Vance, M. A. (2004). Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC genetics, 5(1), 18.

Kenealy, S. J., Schmidt, S., Agarwal, A., Postel, E. A., De La Paz, M. A., Pericak-Vance, M. A., & Haines, J. L. (2004). Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis, 10, 57-61.

Schmidt, S., Saunders, A. M., De La Paz, M. A., Postel, E. A., Heinis, R. M., Agarwal, A., … & Gass, J. D. (2000). Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis, 6(287), 93.

Monica, A., Guy, V. K., Abou-Donia, S., Heinis, R., Bracken, B., Vance, J. M., … & Pericak-Vance, M. A. (1999). Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology, 106(8), 1531-1536.

De La Paz, M. A., Pericak-Vance, M. A., Haines, J. L., & Seddon, J. M. (1997). Phenotypic heterogeneity in families with age-related macular degeneration. American journal of ophthalmology, 124(3), 331-343.

De La Paz, M. A., Pericak-Vance, M. A., Lennon, F., Haines, J. L., & Seddon, J. M. (1997). Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Investigative ophthalmology & visual science,38(6), 1060-1065.

Small, K. W., Weber, J. L., Roses, A., Lennon, F., Vance, J. M., & Pericak-Vance, M. A. (1992). North Carolina macular dystrophy is assigned to chromosome 6. Genomics, 13(3), 681-685.