Ocular Surface – Merging Challenges and Opportunities

Por Araj, Houmam, Tumminia, Santa J., Yeung, David T.
Publicado no Transl Vis Sci Technol (2020)

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

Por Goetz, Kerry E., Reeves, Melissa J., Tumminia, Santa J., Brooks, Brian P.
Publicado em 2012

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 no Transl Vis Sci Technol (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 no Cell Biosci (2017)

Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE(™))

Por Brooks, Brian P., MacDonald, Ian M., Tumminia, Santa J., Smaoui, Nizar, Blain, Delphine, Nezhuvingal, Ajaina A., Sieving, Paul A.
Publicado em 2008

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

Por Alapati, Akhila, Goetz, Kerry, Suk, John, Navani, Mili, Al-Tarouti, Amani, Jayasundera, Thiran, Tumminia, Santa J., Lee, Pauline, Ayyagari, Radha
Publicado em 2014

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

Por Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.
Publicado no Hum Mutat (2020)

High-Throughput Retina-Array for Screening 93 Genes Involved in Inherited Retinal Dystrophy

Por Song, Jin, Smaoui, Nizar, Ayyagari, Radha, Stiles, David, Benhamed, Sonia, MacDonald, Ian M., Daiger, Stephen P., Tumminia, Santa J., Hejtmancik, Fielding, Wang, Xinjing
Publicado em 2011

Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Por 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.
Publicado em 2013

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

Por 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.
Publicado no Biopreserv Biobank (2016)

CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

Por 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.
Publicado em 2014

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

Por Manolio, Teri A., Hutter, Carolyn M., Avigan, Mark, Cibotti, Ricardo, Davis, Robert L., Denny, Joshua C., La Grenade, Lois, 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.
Publicado no Clin Pharmacol Ther (2017)