Duke Center for Human Genetics Duke University Medical CenterDuke University
About Us Research Disorders Study Participation Education/Learning Employment Home

Core Programs

CHG Resources
Publications

Age-Related Macular Degeneration (AMD)

Amyotrophic Lateral Sclerosis (ALS)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Essential Tremer

Facioscapulohumeral
Muscular Dystrophy


Focal Segmental Glomerulosclerosis
(FSGS)

Glaucoma

Limb-Girdle Muscular
Dystrophy


Multiple Sclerosis (MS)

Myopia

Neural Tube Defects
(NTD)

Parkinson Disease

Publications

Age-Related Macular Degeneration (AMD)

Postel EA, Agarwal A, Caldwell J, Gallins P, Toth C, Schmidt S, Scott WK, Hauser MA, Haines JL, Pericak-Vance MA. Complement Factor H Increases Risk for Atrophic Age-Related Macular Degeneration. Ophthalmology 2006 Jul 5 [Epub ahead of print].

Schmidt, S, Hauser, MA, Scott, WK, Postel, EA, Agarwal, A, Gallins, P, Wong, F, Chen, YS, Spencer, K, Schnetz-Boutaud, N, Haines, JL, Pericak-Vance, MA (2006). Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration. Am J Hum Genet 78(5):852-64.

Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, Postel EA, Olsen L, Kenealy SJ, Hauser MA, Gilbert JR, Pericak-Vance MA (2006). Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 47(1):329-335.

Schmidt S, Haines JL, Postel EA, Agarwal A, Fan YT, Kwan SY, Gilbert JR, Pericak-Vance MA, Scott WK (2005). Joint effects of smoking history and APOE genotypes in age-related macular degeneration. Mol Vis 11:941-949.

Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BEK, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schultz HL, Pardi F, Lewis CM, Weber BHF. Meta-Analysis of Genome Scans of Age-Related Macular Degeneration. Hum Mol Genet. 2005 Aug 1;14(15):2257-64. Epub 2005 Jun 29.

Postel EA, Agarwal A, Schmidt S, Fan YTR, Scott WK, Gilbert JR, Haines JL, Pericak- Vance MA. (2004) Comparing age related macular degeneration phenotype in probands from singleton and multiplex families. Am J Ophthalmol. 2005 May;139(5):820-5.

Haines, Jonathan L., Hauser, Michael A., Schmidt, Silke, Scott, William K., Olson, Lana M., Gallins, Paul, Spencer, Kylee L., Kwan, Shu Ying, Noureddine, Maher, Gilbert, John R., Schnetz-Boutaud, Nathalie, Agarwal, Anita, Postel, Eric A., Pericak-Vance, Margaret A. Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration Science 2005 308: 419-421

Schmidt S, Scott WK, Postel EA, Agarwal A, Hauser ER, De La Paz MA, Gilbert JR, Weeks DE, Gorin MB, Haines JL, Pericak-Vance MA. Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet 5(1):18, 2004

Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions. Am J Hum Genet 75:174-189, 2004.

Kenealy SJ, Schmidt S, Agarwal A, Postel EA, De La Paz MA, Pericak-Vance MA, Haines JL. Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis10:57-61, 2004.

Schmidt S, Postel EA, Agarwal A, Allen Jr IC, Walters SN, De La Paz MA, Scott WK, Haines JL, Pericak-Vance MA, Gilbert JR. Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Investigative Ophthalmology and Visual Science 44(7):2868-75, 2003.

Schmidt S, Klaver C, Saunders AM, Postel EA, De La Paz MA, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenny C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong P, van Duijn C, Haines JL, Pericak-Vance MA. A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 23(4):209-23, 2002.

Schmidt S, Saunders AM, De La Paz MA, Postel EA, Heinis RM, Agarwal A, Scott WK, Gilbert JR, McDowell JG, Bazyk A, Gass JDM, Haines JL, Pericak-Vance MA. Association of the Apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Molecular Vision 6: 287-293, 2000

de La Paz M, Guy V, Abou-Donia S, Heinis R, Bracken B, Vance JM, Gilbert JR, Gass DM, Haines JL, Pericak-Vance M. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology 106(8): 1531- 1536, 1999.

De La Paz MA, Pericak-Vance MA, Haines JL, Seddon JM. Phenotypic heterogeneity in families with age-related macular degeneration. Am J Ophthalmology 124:331-343, 1997.

De La Paz MA, Pericak-Vance MA, Lennon F, Haines JL, Seddon JM. Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 38: 1060-1065, 1997.


// top //

About Us | Research | Disorders | Study Participation | Education/Learning | Employment | Home
News & Events
| Giving | Success Stories | Contact Us