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1.

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant, Jana; Lee, Winston; Wang, Jun; Goetz, Kerry; Ullah, Ehsan; Nagasaki, Takayuki; Su, Pei-Yin; Fishman, Gerald A; Tsang, Stephen H; Tumminia, Santa J; Brooks, Brian P; Hufnagel, Robert B; Chen, Rui; Allikmets, Rando.

PLoS Genet; 18(3): e1010129, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35353811

2.

Systems genomics in age-related macular degeneration.

den Hollander, Anneke I; Mullins, Robert F; Orozco, Luz D; Voigt, Andrew P; Chen, Hsu-Hsin; Strunz, Tobias; Grassmann, Felix; Haines, Jonathan L; Kuiper, Jonas J W; Tumminia, Santa J; Allikmets, Rando; Hageman, Gregory S; Stambolian, Dwight; Klaver, Caroline C W; Boeke, Jef D; Chen, Hao; Honigberg, Lee; Katti, Suresh; Frazer, Kelly A; Weber, Bernhard H F; Gorin, Michael B.

Exp Eye Res; 225: 109248, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36108770

3.

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.

Reeves, Melissa J; Goetz, Kerry E; Guan, Bin; Ullah, Ehsan; Blain, Delphine; Zein, Wadih M; Tumminia, Santa J; Hufnagel, Robert B.

Hum Mutat; 41(9): 1528-1539, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32531846

4.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

Goetz, Kerry E; Reeves, Melissa J; Gagadam, Shaina; Blain, Delphine; Bender, Chelsea; Lwin, Cara; Naik, Amelia; Tumminia, Santa J; Hufnagel, Robert B.

Am J Med Genet C Semin Med Genet; 184(3): 828-837, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32893963

5.

The 2021 National Eye Institute Strategic Plan: Eliminating Vision Loss and Improving Quality of Life.

Chiang, Michael F; Tumminia, Santa J.

Ophthalmology; 129(1): 12-14, 2022 01.

Artículo en Inglés | MEDLINE | ID: mdl-34736763

6.

Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials.

Yaghy, Antonio; Lee, Aaron Y; Keane, Pearse A; Keenan, Tiarnan D L; Mendonca, Luisa S M; Lee, Cecilia S; Cairns, Anne Marie; Carroll, Joseph; Chen, Hao; Clark, Julie; Cukras, Catherine A; de Sisternes, Luis; Domalpally, Amitha; Durbin, Mary K; Goetz, Kerry E; Grassmann, Felix; Haines, Jonathan L; Honda, Naoto; Hu, Zhihong Jewel; Mody, Christopher; Orozco, Luz D; Owsley, Cynthia; Poor, Stephen; Reisman, Charles; Ribeiro, Ramiro; Sadda, Srinivas R; Sivaprasad, Sobha; Staurenghi, Giovanni; Ting, Daniel Sw; Tumminia, Santa J; Zalunardo, Luca; Waheed, Nadia K.

Exp Eye Res; 220: 109092, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35525297

7.

Translational roadmap for regenerative therapies of eye disease.

Levin, Leonard A; Chiang, Michael F; Dyer, Michael A; Greenwell, Thomas N; Svendsen, Clive N; Tumminia, Santa J; Van Gelder, Russell N; Wong, Rachel O.

Med; 4(9): 583-590, 2023 09 08.

Artículo en Inglés | MEDLINE | ID: mdl-37689055

8.

eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.

Goetz, Kerry E; Reeves, Melissa J; Tumminia, Santa J; Brooks, Brian P.

Curr Opin Ophthalmol; 23(5): 355-63, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-22847030

9.

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Bender, Chelsea; Woo, Elizabeth Geena; Guan, Bin; Ullah, Ehsan; Feng, Eric; Turriff, Amy; Tumminia, Santa J; Sieving, Paul A; Cukras, Catherine A; Hufnagel, Robert B.

Genes (Basel); 13(4)2022 04 12.

Artículo en Inglés | MEDLINE | ID: mdl-35456481

10.

The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine.

Becker, Steven M; Tumminia, Santa J; Chiang, Michael F.

Transl Vis Sci Technol; 10(10): 2, 2021 08 12.

Artículo en Inglés | MEDLINE | ID: mdl-34383880

11.

Ocular Surface - Merging Challenges and Opportunities.

Araj, Houmam; Tumminia, Santa J; Yeung, David T.

Transl Vis Sci Technol; 9(12): 3, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-33200045

12.

NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.

Wright, Charles; Mazzucco, Anna E; Becker, Steven M; Sieving, Paul A; Tumminia, Santa J.

Transl Vis Sci Technol; 9(7): 49, 2020 06.

Artículo en Inglés | MEDLINE | ID: mdl-32832254

13.

Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.

Manolio, Teri A; Hutter, Carolyn M; Avigan, Mark; Cibotti, Ricardo; Davis, Robert L; Denny, Joshua C; Grenade, Lois La; Wheatley, Lisa M; Carrington, Mary N; Chantratita, Wasun; Chung, Wen-Hung; Dalton, Andrea D; Hung, Shuen-Iu; Lee, Ming Ta Michael; Leeder, J Steven; Lertora, Juan J L; Mahasirimongkol, Surakameth; McLeod, Howard L; Mockenhaupt, Maja; Pacanowski, Michael; Phillips, Elizabeth J; Pinheiro, Simone; Pirmohamed, Munir; Sung, Cynthia; Suwankesawong, Wimon; Trepanier, Lauren; Tumminia, Santa J; Veenstra, David; Yuliwulandari, Rika; Shear, Neil H.

Clin Pharmacol Ther; 103(3): 390-394, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29105735

14.

Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.

Parrish, Rebecca S; Garafalo, Alexandra V; Ndifor, Vida; Goetz, Kerry E; Reeves, Melissa J; Yim, Annette; Cooper, Remy C; Iano-Fletcher, Jemma; Wang, Xinjing; Tumminia, Santa J.

Biopreserv Biobank; 14(2): 149-55, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26891080

15.

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati, Akhila; Goetz, Kerry; Suk, John; Navani, Mili; Al-Tarouti, Amani; Jayasundera, Thiran; Tumminia, Santa J; Lee, Pauline; Ayyagari, Radha.

Invest Ophthalmol Vis Sci; 55(9): 5510-21, 2014 Jul 31.

Artículo en Inglés | MEDLINE | ID: mdl-25082885

16.

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Zein, Wadih M; Jeffrey, Brett G; Wiley, Henry E; Turriff, Amy E; Tumminia, Santa J; Tao, Weng; Bush, Ronald A; Marangoni, Dario; Wen, Rong; Wei, Lisa L; Sieving, Paul A.

Invest Ophthalmol Vis Sci; 55(10): 6301-8, 2014 Sep 09.

Artículo en Inglés | MEDLINE | ID: mdl-25205868

17.

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Brooks, Brian P; Macdonald, Ian M; Tumminia, Santa J; Smaoui, Nizar; Blain, Delphine; Nezhuvingal, Ajaina A; Sieving, Paul A.

Arch Ophthalmol; 126(3): 424-5, 2008 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-18332328

18.

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan, Lori S; Bowne, Sara J; Reeves, Melissa J; Blain, Delphine; Goetz, Kerry; Ndifor, Vida; Vitez, Sally; Wang, Xinjing; Tumminia, Santa J; Daiger, Stephen P.

Invest Ophthalmol Vis Sci; 54(9): 6255-61, 2013 Sep 19.

Artículo en Inglés | MEDLINE | ID: mdl-23950152

19.

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Song, Jin; Smaoui, Nizar; Ayyagari, Radha; Stiles, David; Benhamed, Sonia; MacDonald, Ian M; Daiger, Stephen P; Tumminia, Santa J; Hejtmancik, Fielding; Wang, Xinjing.

Invest Ophthalmol Vis Sci; 52(12): 9053-60, 2011 Nov 25.

Artículo en Inglés | MEDLINE | ID: mdl-22025579

20.

Harnessing academia, government, and industry.

Tumminia, Santa J.

Invest Ophthalmol Vis Sci; 53(5): 2515-21, 2012 May 04.

Artículo en Inglés | MEDLINE | ID: mdl-22562854

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