Ocular Surface – Merging Challenges and Opportunities

by Araj, Houmam, Tumminia, Santa J., Yeung, David T.
Published in Transl Vis Sci Technol (2020)

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

by Goetz, Kerry E., Reeves, Melissa J., Tumminia, Santa J., Brooks, Brian P.
Published 2012

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

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

by Gao, Jackson, D’Souza, Leera, Wetherby, Keith, Antolik, Christian, Reeves, Melissa, Adams, David R., Tumminia, Santa, Wang, Xinjing
Published in Cell Biosci (2017)

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

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

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

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

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

by Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.
Published in Hum Mutat (2020)

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

by Goetz, Kerry E., Reeves, Melissa J., Gagadam, Shaina, Blain, Delphine, Bender, Chelsea, Lwin, Cara, Naik, Amelia, Tumminia, Santa J., Hufnagel, Robert B.
Published in Am J Med Genet C Semin Med Genet (2020)

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

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

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

by 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.
Published 2013

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

by 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.
Published in Biopreserv Biobank (2016)

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

by 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.
Published 2014

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

by 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.
Published in Clin Pharmacol Ther (2017)