Ocular Surface – Merging Challenges and Opportunities

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

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

di Goetz, Kerry E., Reeves, Melissa J., Tumminia, Santa J., Brooks, Brian P.
Pubblicazione 2012

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

di Wright, Charles, Mazzucco, Anna E., Becker, Steven M., Sieving, Paul A., Tumminia, Santa J.
Pubblicato 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

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

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

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

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

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

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

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

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

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

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

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

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

di 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.
Pubblicazione 2013

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

di 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.
Pubblicato in Biopreserv Biobank (2016)

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

di 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.
Pubblicazione 2014

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

di 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.
Pubblicato in Clin Pharmacol Ther (2017)