Ocular Surface – Merging Challenges and Opportunities

por Araj, Houmam, Tumminia, Santa J., Yeung, David T.
Publicado 2020

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

por Becker, Steven M., Tumminia, Santa J., Chiang, Michael F.
Publicado 2021

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

por Wright, Charles, Mazzucco, Anna E., Becker, Steven M., Sieving, Paul A., Tumminia, Santa J.
Publicado 2020

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

por Gao, Jackson, D’Souza, Leera, Wetherby, Keith, Antolik, Christian, Reeves, Melissa, Adams, David R., Tumminia, Santa, Wang, Xinjing
Publicado 2017

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

por 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.
Publicado 2022

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

por 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
Publicado 2022

Systems genomics in age-related macular degeneration

por 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.
Publicado 2022