Ocular Surface – Merging Challenges and Opportunities

per Araj, Houmam, Tumminia, Santa J., Yeung, David T.
Publicat a Transl Vis Sci Technol (2020)

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

per Goetz, Kerry E., Reeves, Melissa J., Tumminia, Santa J., Brooks, Brian P.
Publicat 2012

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

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

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

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

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

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

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

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

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

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

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

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

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

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

per 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.
Publicat 2013

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

per 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.
Publicat a Biopreserv Biobank (2016)

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

per 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.
Publicat 2014

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

per 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.
Publicat a Clin Pharmacol Ther (2017)