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Study Disorders

Amyotrophic Lateral Sclerosis (ALS)


Attention Deficit/Hyperactivity Disorder (AD/HD)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Familial Focal Segmental Glomerulosclerosis (FSGS)


Multiple Sclerosis (MS)


Neural Tube Defects (NTD)

Ophthalmic Genetic Disorders

Sickle Cell Disease (SCD)

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Clinical Staff



Quinn GE, Berlin JA, Young TL, Ziylan S, Stone RA. An association of intraocular pressure and myopia in children. Ophthalmology 1995; 102: 180-6.

Young TL, Weis JR, Summers CG, Egbert JE. The association of strabismus, amblyopia, and refractive errors in spasmus nutans. Ophthalmology 1997; 104:112-17.

Cheung JC, Summers CG, Young TL. Myopia predicts better outcome in persistent hyperplastic primary vitreous. J Pediatr Ophthalmol Strabismus 1997; 34:170-6.

Young TL, Ronan S, Alvear A, Drahozal L, Wildenberg SC, Oetting WS, Atwood L, Wilkin, D, King R. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet 1998; 63:109-119.

Young TL, Ronan S, Alvear A, Wildenberg SC, Oetting WS, Atwood L, Wilkin D, King RA. A second locus for familial high myopia on chromosome 12q. Am J Hum Genet 1998; 63:1419-1424.

Oetting WS, Armstrong-Jacobs CM, Ronan SM, Young TL, Sellers TA, King RA. Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using infrared fluorescence and M13 tailed primers. Electrophoresis 1998, 19,3079-3083.

Young TL, Atwood LD, Ronan SM, Dewan AT, Alvear AB, Peterson J, Holleschau A, King RA. Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmic Genetics 2001;22:69-75.

Paluru P, Heon E, Devoto M, Ronan SM, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL. A new locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 2003; 44:1830-1836.

Young TL, Guo XD, Scavello G, Johnson J, King RA, Rada JA. Identification of genes expressed in a human scleral cDNA library. Mol Vis 2003; 9:508-514.

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Haya shi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsk y AG, King RA. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol, Jun 2004;122:897-908.

Paluru PC, Scavello GS, Ganter W, Young TL. Exclusion of Lumican and Fibromodulin as candidate genes in MYP3-linked high-grade myopia. Mol Vis 2004;10:917-922.

Scavello GS, Paluru PC, Ganter WR, Young TL. Sequence variants in the Transforming Growth Beta-Induced Factor (TGIF) gene are not associated with high myopia. Invest Ophthalmol Vis Sci 2004;45(7):2091-2097.

Young TL, Scavello G, Paluru P, Choi J, Rappaport EF, Rada JA. Microarray analysis of gene expression in human donor sclera. Mol Vis . 2004;10:163-76.

Young TL. Dissecting the genetics of human high myopia: A molecular biologic approach. Trans Am Ophthalmol Soc 2004;52:432-446.

Scavello GS, Paluru PC, Zhou J, White PS, Rappaport EF, Young TL. Genomic structure and organization of the high grade myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. Mol Vis 2005; 11:97-110.

Zhou J, Young TL. Evaluation of LIPIN2 as a candidate gene for autosomal dominant 1 high-grade. myopia. Gene. 2005;352:10-19.

Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL. Identification of a novel locus on chromosome 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 2005;46(7):2300-2307.

Heidary G, Ying G-S, Maguire MG, Young TL. The association of sphere on cylinder type and severity in a high myopia cohort. Optom Vis Sci Apr 2005;82(4):244-7.

Zhou J, Rappaport EF, Tobias JW, Young TL. Differential gene expression in mouse sclera during ocular development. Invest Ophthalmol Vis Sci 2006;47:1794-1802.

Johnson JM, Young TL, Summers-Rada JA. Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP. Mol Vis. 2006;12:1057-66.

Young TL, Metlapally R, Shay A. Complex Trait Genetics of Refractive Error. Arch Ophthalmol 2007;125:38-48.

Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis. 2007;13:229-36.

Metlapally R, Li Y-J, Tran-Viet KN, Bulusu A, White TR, Ellis J, Kao D, Young TL. Common MFRP sequence variants are not associated with moderate-high hyperopia, isolated microphthalmia and high myopia. Mol Vis. 2008;14:387-393.

Young TL. Molecular Genetics of Human Myopia: An Update. Vis Sci 2009;86:E8-E22.

Zayats T, Yanovitch T, Creer RC, McMahon G, Li Y-J, Young TL, Guggenheim JA. Myocilin polymorphisms and high myopia in subjects of European origin. Mol Vis 2009; 15:213-222.

Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore, AT, Zuchner S, Rickman, CB, Young TL. Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies. Invest Ophthalmol Vis Sci 2009; 50:1552-8.

McBrien NA, Young TL, Pang CP, Hammond C, Baird P, Saw S-M, Morgan IG, Mutti DO, Rose KA, Wallman J, Gentle A, Wildsoet CF, Gwiazda J, Schmid KL, Smith E 3rd, Troilo D, Summers-Rada J, Norton TT, Schaeffel F, Megaw P, Beuerman RW, McFadden SA. Myopia: Recent Advances in Molecular Studies; Prevalence, Progression and Risk Factors; Emmetropization; Therapies; Optical Links; Peripheral Refraction; Sclera and Ocular Growth; Signalling Cascades; and Animal Models. Optom Vis Sci 2009;86:45-66

Dirani M, Paul Mitchell P, Rose K, Gazzard G, Tong L, Young TL, Chia A, Xiaoe Z, Saw S-M. Outdoor activity and myopia in Singapore teenage children. Br J Ophthalmol 2009; Feb 11. [Epub ahead of print]

Li Y-J, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey D, Young TL. An International Collaborative Family-based Whole Genome Linkage Scan for High-Grade Myopia. Invest Ophthalmol Vis Sci 2009 50:3210-3217.

Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL. Novel Base-Pair Mutation of the CSPG2 Gene in a Family with Wagner Syndrome Suggests a Mutational Hot-Spot. Arch of Ophthalmol. 2009 Nov;127(11):1511-9.

Metlapally R, Ki C-S, Li Y-J, Tran Viet K-N, Abbott D, Malecaze F, Calvas P, Mackey D, Rosenberg T, Paget S, Guggenheim J, Young TL. (2010) Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci 2010 Sep;51(9):4476-9.

Low W, Dirani M, Gazzard G, Chan Y-H, Zhou HJ, Prabakaran S, Au-Eong KG, Young TL, Mitchell P, Wong TY, Saw S-M. Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children. Br J Ophthalmol. 2010;94:1012-6.

Mackey DA, MacKinnon JR, Brown SA, Kearns LS, Ruddle JB, Sanfilippo P, Sun C, Hammond C, Young TL, Martin, NG, Hewitt AW. Twins Eye Study in Tasmania (TEST): rationale and methodology to recruit and examine twins. Twin Res Hum Genet. 2009;Oct;12(5):441-54.

Li Y-J, Goh LK, Khor CC, Fan Q, Yu M, Han S, Sim X, Ong RT, Wong TY, Vithana EN, Yap E, Nakanishi H, Matsuda F, Ohno-Matsui K, Yoshimura N, Seielstad M, Tai ES, Young TL, Saw SM. Genome wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmology. 2011 Feb;118(2):368-75.

Young TL*, Hysi PG*, Mackey DA, Andrew T, et. al. Porteros A, Lopes MC, Carbonaro F, Fahy SJ, Martin NG, van Duijn CM, Spector TD, Rahi JS, Santos E, Klaver CC, Hammond CJ. (2010) A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet. 2010 Oct;42(10):902-5. Epub 2010 Sep 12. (*equal contributions)

Solouki AM, Verhoeven VJM, ...,Young TL, ..., Klaver CC. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010 Oct;42(10):897-901. Epub 2010 Sep 12.

Thorleiffson G, Wlalters GB, Hewitt A, ..., Young TL, ..., Stefansson K. (2010) Common variants near CAV1 and CAV2 are associated with primary open angle glaucoma. Nat Genet. 2010 Oct;42(10):906-9. Epub 2010 Sep 12.

Lamoureux EL, Marella M, Chang B, Dirani M, Kah-Guan AE, Chia A, Young TL, Wong TY, Saw SM. Is the pediatric quality of life inventory valid for use in preschool children with refractive errors? Optom Vis Sci. 2010 Nov;87(11):813-22.

Leo SW, Young TL. An evidence-based update on myopia and interventions to retard its progression. J AAPOS. 2011 Apr;15(2):181-9.

Lyle R, Awal R, Bindu G, Giacobino A, Bartoloni L, Palura P, Young TL, Morris M, Antonarakis S, Radhakrishna U. Refinement of the X-linked nonsyndromic high-grade myopia locus (MYP1) on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthal Vis Sci. 2011 August 29;52(9):6814-6819.

Sanfilippo PG, Medland SE, Hewitt AW, Kearns LS, Ruddle JB, Sun C, Hammond CJ, Young TL, Martin NG, Mackey DA. Ophthalmic phenotypes and the representativeness of twin data for the general population. Invest Ophthal Vis Sci. 2011 July 29;52(8):5565-72.

Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN, Malecaze F, Calvas P, Rosenberg T, Guggenheim JA,Young TL. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Mol Vis. 2011;17:2118-28.

Qiao Fan, Xin Zhou, Chiea-Chuen Khor, Ching-Yu Cheng, Liang-Kee Goh, Xueling Sim, Wan-Ting Tay, Yi-Ju Li, Rick Twee-Hee Ong, Chen Suo, Belinda Cornes, Mohammad Kamran Ikram, Kee-Seng Chia, Mark Seielstad, Jianjun Liu, Eranga Vithana, Terri L. Young, E.-Shyong Tai, Tien-Yin Wong, Tin Aung, Yik-Ying Teo, Seang-Mei Saw. Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. PLoS Genet. 2011 Dec;7(12):e1002402.Epub 2011 Dec 1.

Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, Khor CC, Goh LK, Li YJ, Lim W, Ho CE, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai ES, Yoshimura N, Aung T, Young TL, Wong TY, Teo YY, Saw SM. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet. 2012;8(6):e1002753. Epub 2012 Jun 7.

Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, ..., Klaver CC Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet. 2012 Sep;131(9):1467-80.

Tran-Viet KN, St Germain E, Soler V, Powell C, Lim SH, Klemm T, Saw SM, Young TL. Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Mol Vis. 2012;18:937-44. Epub 2012 Apr 12.

Abbott D, Li YJ, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, Rosenberg T, Paget S, Zayats T, Mackey DA, Feng S, Young TL An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis. 2012;18:720-9. Epub 2012 Mar 26.

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