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About our Studies

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)

Study Participant FAQ
Clinical Staff

Ophthalmic Genetics Publications

Young TL, Schaffer DB, Cohen AR. Infantile glaucoma associated with the Diamond-Blackfan syndrome. J Pediatr Ophthalmol Strabismus 29:55-58, 1992.

Hertle RW, Katowitz JA, Young TL, Quinn GE, Farber MG. Congenital unilateral fibrosis, ptosis, and enophthalmos syndrome. Ophthalmology 99:347-55, 1992.

Young TL, Ziylan S, Schaffer DB. The ophthalmologic manifestations of the cardiofacio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus 30: 48-52, 1993.

Young TL, Himmelstein BP, Rebsamen SL, Ruchelli E, Quinn GE, Bunin N. Intraocular Ki-1 lymphoma in a 2-year-old boy. J Pediatr Ophthalmol Strabismus. 1996 Sep-Oct;33(5):268-70.

Young TL, Weis JR, Summers CG, Egbert JE. The association of strabismus, amblyopia, and refractive errors in spasmus nutans. Ophthalmology. 1997 Jan;104(1):112-117.

Weigel BJ, Pierpont ME, Young TL, Mutchler S, Neglia JP. Retinoblastoma and Hirschsprung disease in a patient with an interstitial deletion of chromosome 13. Am J Med Genet 77:285-8, 1998.

Tripathi RK, Flanders DJ, Young TL, Oetting WS, Ramiah A, King RA, Boissy RE, Nordlund JJ. Microphthalmia-associated transcription Factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation. Pigment Cell Res. 1999 Jun;12(3):187-192.

Ahmed I, Tope WD, Young TL, Miller DM, Bloom KE. Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol Aug 47: S196-200, 2002.

Young TL. Ophthalmic genetics/ Inherited eye disease. Curr Opin Ophthalmol Oct 14 (5): 296-303, 2003.

Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Orchard PJ, Ramenghi U, Johan Van Hove JV,Vujic D, Young TL, Vezzoni P, Villa A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct;18(10):1740-7.

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Hollescha u AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004 Jun;122(6):897-908.

DeScipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Wheeler PG, Williams MS, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) Syndrome. Am J Med Genet 134A: 3-11, 2005.

Hutcheson KA, Paluru PC, Bernstein SL, Koh J, Rappaport EF, Young TL. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis 11:501-8, 2005.

Hoffman JD, Jacobson Z, Young TL, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four siblings. Am J Med Genet A. 2005 May 15;135(1):96-8.

Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, Pawel BR, Honig PJ, Camacho J, Imaizumi S, Heymann WR, Schnur RE. Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype. Arch Dermatol Dec 141(12):1591-4, 2005.

Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz I, Young TL. Ophthalmologic findings in Cornelia de Lange syndrome: A genotype-phenotype correlation study. Arch Ophthalmol Apr 124(4):552-7, 2006.

Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young TL, Neri G. The cardiofaciocutaneous syndrome. J Med Genet Nov 43(11):833-42. Epub 2006 Jul 6.

Jadico SK, Young DA, Huebner A, Edmond JC, Pollock AN, McDonald-McGinn DM, Li YJ, Zackai EH, Young TL. Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. J AAPOS Dec 10(6):521-7, 2006.

Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS Oct 10(5):435-44, 2006.

Metlapally R, Bulusu A, Li Y-J, White TR, Tran-Viet KN, Young TL. Common MFRP sequence variants are not associated with moderate-high hyperopia, isolated microphthalmia and high myopia. Mol Vis. 2008;14:387-93.

Zhou J, Kherani F, Bardakjian TM, Katowitz J , Hughes N, Schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008;14:583-592.

Schneider A, Bardakjian TM, Zhou J, Kherani F, Katowitz J , Hughes N, Schimmenti LA, Young TL. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008 Nov 1;146A(21):2794-8.

Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Zuchner S, Bowes Rickman C, Young TL. Evaluation of the X-linked high grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552-8. Epub 2008 Dec 20.

White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang TY, Tran-Viet KN, Young TL. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/ microphthalmia. Mol Vis. 2008;14:2458-65. Epub 2008 Dec 26.

Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF. Replication of the Recessive STBMS1 Locus but with Dominant Inheritance Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3210-7. Epub 2009 Feb 14.

Carbonaro F, Andrew T, Mackey DA, Young TL, Spector TD, Hammond CJ. Repeated measures of intraocular pressure result in a higher heritability and greater power in genetic linkage studies. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5115-9. Epub 2009 May 6.

Ronan SM, Tran-Viet, KN, Burner E, Toth CA, Young TL. Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. Arch Ophthalmol. 2009 Nov;127(11):1511-9.

Sun C, Zhu G, Wong T-Y, Hewitt AW, Ruddle JB, Martin NG, Montgomery GW, Young TL, Hammond CJ, Craig JE, Hodges L, He M, Mackey DA. Quantitative genetic analysis of retinal vascular caliber: the Australian twin eye study. Hypertension. 2009 Oct;54(4):788-95. Epub 2009 Aug 17.

Dellinger A, Saw SM, Goh LK, Seielstad M, Young TL, Li Y-J. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucl Acids Res. (2010) 38(9):e105. Epub 2010 Feb 8.

Lavanya R, Jeganathan VS, Zheng Y, Raju P, Cheung N, Tai ES, Wang JJ, Lamoureux E, Mitchell P, Young TL, Cajucom-Uy H, Foster PJ, Aung T, Saw SM, Wong TY. Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol. 2009 Nov-Dec;16(6):325-36.

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.

Khor CC, Fan Q, Goh LK, Wong TY, Li YJ, Cheung N, Seielstad M, Goh DL, Young TL, Tai ES, Saw SM. Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese. Ophthalmology.2010 May;117(5):939-45. Epub 2010 Feb 1.

MacGregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet. (2010) 19(13):2716-24. Epub 2010 Apr 15.

Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, MacGregor S, Craig JE, Mackey DA. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet. 2010 May 13;6(5):e1000947.

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.

Chang L, El-Dairi M, Frempong T, Burner E, Bhatti T, Young TL, Leigh F. Optical coherence tomography in the evaluation of Neurofibromatosis Type 1 subjects with optic pathway gliomas. J AAPOS. 2010 Dec;14(6):511-7.

Ikram MK, Sim Xueling S, Jensen RA, Cotch MF, ... Young TL, ..., Wong TY. Four novel loci (19q13, 6q24, 12q24 and 5q14) influence the microcirculation in vivo. PLoS Genet. 2010 Oct 28;6(10):e1001184.

Yanovitch T, Wallace DK, Freedman SF, Enyedi LB, Kishnani P, Worley G, Crissman B, Burner E, Young TL. The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome. J AAPOS. 2010 Dec;14(6):472-7.

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 Ophthalmol Vis Sci. 2011 Jul 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. Epub 2011 Aug 10.

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 December; 7(12):e1002402.Epub 2011 Dec 1.

Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA Genetic Variants near PDGFRA Are Associated with Corneal Curvature in Australians. Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131-6.

Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, Takahashi A, Maeda S, Tsunoda T, Chen P, Lim SC, Wong TY, Liu J, Young TL, ... , Tanaka T. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet. 2012 Jul 15;44(8):904-9.

Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74.

van Koolwijk LM, Ramdas WD, ..., Young TL, ..., van Duijn CM. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet. 2012;8(5):e1002611. Epub 2012 May 3.

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