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

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The 2021 National Eye Institute Strategic Plan: Eliminating Vision Loss and Improving Quality of Life von Chiang, Michael F., Tumminia, Santa J.

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy von Song, Jin, Smaoui, Nizar, Ayyagari, Radha, Stiles, David, Benhamed, Sonia, MacDonald, Ian M, Daiger, Stephen P, Tumminia, Santa J, Hejtmancik, Fielding, Wang, Xinjing

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Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort von Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.

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Systems genomics in age-related macular degeneration von 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.

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

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Harnessing academia, government, and industry von Tumminia, Santa J

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

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Ocular Surface - Merging Challenges and Opportunities von Araj, Houmam, Tumminia, Santa J, Yeung, David T

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The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine von Becker, Steven M, Tumminia, Santa J, Chiang, Michael F

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss von Alapati, Akhila, Goetz, Kerry, Suk, John, Navani, Mili, Al-Tarouti, Amani, Jayasundera, Thiran, Tumminia, Santa J, Lee, Pauline, Ayyagari, Radha

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

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

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

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NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future von Wright, Charles, Mazzucco, Anna E, Becker, Steven M, Sieving, Paul A, Tumminia, Santa J

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Translational roadmap for regenerative therapies of eye disease von 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.

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eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease von Goetz, Kerry E, Reeves, Melissa J, Tumminia, Santa J, Brooks, Brian P

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

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Special Commentary: Cerebral/Cortical Visual Impairment Working Definition: A Report from the National Institutes of Health CVI Workshop von Chang, Melinda Y, Merabet, Lotfi B

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Special Commentary: Cerebral/Cortical Visual Impairment Working Definition von Chang, Melinda Y., Merabet, Lotfi B., Borchert, Mark, Chandna, Arvind, Heidary, Gena, Kran, Barry, Lawrence, Linda, Legge, Richard H., Lehman, Sharon, Rice, Melissa, Shah, Veeral, Stasheff, Steve, Chen, Daofen, Cruz, Theresa, Goetz, Kerry, Gordon, Shefa, Hardy, Kristi, Kerr, Alicia, Nelson, Erika, Nitkin, Ralph M., Parisi, Melissa A., Reed, Amber, Tumminia, Santa J., Wiggs, Cheri

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