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S. Tumminia · SciRah

Researcher profile · Semantic Scholar

S. Tumminia

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S. Tumminia — researcher profile on SciRah

h-index: 16
Works: 54
Citations: 938

Most-cited papers

Mechanical stretch alters the actin cytoskeletal network and signal transduction in human trabecular meshwork cells.
S. Tumminia, K. Mitton, Jaspreet Arora, Peggy S. Zelenka +2 more
1998Investigative Ophthalmology and Visual Science165 citations
Semantic Scholar
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Lori S. Sullivan, Sara J. Bowne, Melissa J. Reeves, D. Blain +6 more
2013Investigative Ophthalmology and Visual Science81 citations Open access
Semantic Scholar
Transient loss of alphaB-crystallin: an early cellular response to mechanical stretch.
K. Mitton, S. Tumminia, Jaspreet Arora, Peggy S. Zelenka +2 more
1997Biochemical and Biophysical Research Communications - BBRC66 citations
Semantic Scholar
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.
W. Zein, B. G. Jeffrey, H. Wiley, Amy E. Turriff +7 more
2014Investigative Ophthalmology and Visual Science55 citations Open access
Semantic Scholar
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network
Kerry E. Goetz, Melissa J. Reeves, Shaina Gagadam, D. Blain +5 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics47 citations Open access
Semantic Scholar
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
J. Song, N. Smaoui, R. Ayyagari, D. Stiles +6 more
2011Investigative Ophthalmology and Visual Science46 citations Open access
Semantic Scholar
Tempol-H inhibits opacification of lenses in organ culture.
J. Zigler, C. Qin, T. Kamiya, M. Krishna +3 more
2003Free Radical Biology & Medicine46 citations
Semantic Scholar
The integrity of mammalian lenses in organ culture.
S. Tumminia, Chuan Qin, J. Zigler, Paul Russell
1994Experimental Eye Research44 citations
Semantic Scholar
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort
Melissa J. Reeves, Kerry E. Goetz, Bin Guan, Ehsan Ullah +4 more
2020Human Mutation42 citations Open access
Semantic Scholar
Systems genomics in age-related macular degeneration
A. den Hollander, R. Mullins, Luz D. Orozco, A. Voigt +17 more
2022Experimental Eye Research28 citations Open access
Semantic Scholar
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Akhila Alapati, Kerry E. Goetz, John Suk, Mili Navani +5 more
2014Investigative Ophthalmology and Visual Science27 citations Open access
Semantic Scholar
eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease
Kerry E. Goetz, Melissa J. Reeves, S. Tumminia, B. Brooks
2012Current Opinion in Ophthalmology23 citations Open access
Semantic Scholar
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).
B. Brooks, I. MacDonald, S. Tumminia, N. Smaoui +3 more
2008A M A Archives of Ophthalmology20 citations Open access
Semantic Scholar
Cataractogenesis in Transgenic Mice Containing the HIV-1 Protease Linked to the Lens A-Crystallin Promoter (*)
S. Tumminia, G. Jonak, R. Focht, Y. Cheng +1 more
1996Journal of Biological Chemistry20 citations Open access
Semantic Scholar
Cysteine Protease Activated by Expression of HIV-1 Protease in Transgenic Mice
K. Mitton, T. Kamiya, S. Tumminia, P. Russell
1996Journal of Biological Chemistry18 citations Open access
Semantic Scholar
Investigations into the loss of glutathione from lenses in organ culture.
Chuan Qin, S. Tumminia, Paul Russell, P. Rao +1 more
1996Current Eye Research18 citations
Semantic Scholar
Xenobiotic induction of quinone oxidoreductase activity in lens epithelial cells.
S. Tumminia, P. Rao, J. Zigler, Paul Russell
1993Biochimica et Biophysica Acta16 citations
Semantic Scholar
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
J. Zernant, Winston Lee, Jun Wang, Kerry E. Goetz +10 more
2022PLoS Genetics15 citations Open access
Semantic Scholar
Ocular Surface – Merging Challenges and Opportunities
Houmam Araj, S. Tumminia, David T. Yeung
2020Translational Vision Science & Technology15 citations Open access
Semantic Scholar
Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis
T. Manolio, Carolyn M. Hutter, M. Avigan, R. Cibotti +26 more
2017Clinical pharmacology and therapy15 citations Open access
Semantic Scholar
The tensegrity model applied to the lens: a hypothesis for the presence of the fiber cell ball and sockets.
T. Yamada, D. Richiert, S. Tumminia, Paul Russell
2000Medical Hypotheses14 citations
Semantic Scholar
Lens hydration in transgenic mice containing HIV-1 protease linked to the lens alpha A-crystallin promoter.
Frederick A. Bettelheim, Fei-Fei Zeng, Bia Ying, S. Tumminia +1 more
1995Archives of Biochemistry and Biophysics12 citations
Semantic Scholar
Artificial Intelligence-based Strategies to Identify Patient Populations and Advance Analysis in Age-Related Macular Degeneration Clinical Trials
Antonio Yaghy, Aaron Y. Lee, P. Keane, T. Keenan +28 more
2022Experimental Eye Research11 citations Open access
Semantic Scholar
Three distinct stages of lens opacification in transgenic mice expressing the HIV-1 protease.
S. Tumminia, John I. Clark, Dawn M. Richiert, K. Mitton +4 more
2001Experimental Eye Research11 citations
Semantic Scholar
Alpha B-crystallin accumulation in human astroglioma cell line U373MG is stress-dependent and phosphorylation-independent.
S. Tumminia, Paul Russell
1994Journal of Biochemistry (Tokyo)10 citations
Semantic Scholar
The 2021 National Eye Institute Strategic Plan: Eliminating Vision Loss and Improving Quality of Life
Michael F. Chiang, S. Tumminia
2021Ophthalmology (Rochester, Minn.)9 citations Open access
Semantic Scholar
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
Jackson Y Gao, Leera D’Souza, K. Wetherby, C. Antolik +4 more
2017Cell & Bioscience9 citations Open access
Semantic Scholar
The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine
Steven M. Becker, S. Tumminia, Michael F. Chiang
2021Translational Vision Science & Technology8 citations Open access
Semantic Scholar
NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future
Charles B Wright, Anna E. Mazzucco, Steven M. Becker, P. Sieving +1 more
2020Translational Vision Science & Technology8 citations Open access
Semantic Scholar
Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository
Rebecca S Parrish, Alexandra V. Garafalo, Vida Ndifor, Kerry E. Goetz +6 more
2016Biopreservation and Biobanking7 citations Open access
Semantic Scholar
Light scattering and morphology of cataract formation in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter.
Frederick A. Bettelheim, A. Churchill, E. L. Siew, S. Tumminia +1 more
1997Experimental Eye Research6 citations
Semantic Scholar
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
Chelsea Bender, E. Woo, Bin Guan, Ehsan Ullah +6 more
2022Genes5 citations Open access
Semantic Scholar
A comparison of antioxidant enzyme activities in organ-cultured rhesus monkey lenses following peroxide challenge.
S. Tumminia, C. Chambers, Chuan Qin, J. Zigler +1 more
1996Current Eye Research5 citations
Semantic Scholar
Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms
R. Ratnapriya, Felix Grassman, Rui Chen, Alex W. Hewitt +10 more
2025Experimental Eye Research4 citations Open access
Semantic Scholar
Prevention of cataractous changes in cultured rat lenses by the hydroxylamine of Tempol (Tempol-H)
J. Zigler, C. Qin, S. Tumminia, P. Russell
19964 citations
Semantic Scholar
Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes
Fulya Yaylacıoğlu Tuncay, Melissa J. Reeves, Saira Yousaf, E. Ullah +4 more
2025Investigative Ophthalmology and Visual Science3 citations Open access
Semantic Scholar
Translational Roadmap for Regenerative Therapies of Eye Disease
Leonard A. Levin, Michael F. Chiang, Michael A. Dyer, Thomas N. Greenwell +4 more
2023i Medicina2 citations
Semantic Scholar
RGR gene mutation causative of peripapillary choroidal atrophy
M. Leys, A. Turner, Hong He, Marybeth Hummel +5 more
20142 citations
Semantic Scholar
Harnessing academia, government, and industry.
S. Tumminia
2012Investigative Ophthalmology and Visual Science2 citations
Semantic Scholar
Clinical, Research, or Clinical Research Laboratory—A Review of Laboratory Types and Regulating Bodies
Melissa J. Reeves, R. Hufnagel, S. Tumminia
2018American Journal of Clinical Pathology1 citations Open access
Semantic Scholar
P257: AP-5 complex variants cause macular dystrophy: A case series
Kati Veres, Melissa J. Reeves, Amelia Naik, Ranya Al Rawi +10 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Cover, Volume 41, Issue 8
Melissa J. Reeves, Kerry E. Goetz, Bin Guan, Ehsan Ullah +4 more
2020Human Mutation0 citations Open access
Semantic Scholar
Quality Management: Institution of Incident Reporting in the Clinical Laboratory
Melissa J. Reeves, Ehsan Ullah, R. Hufnagel, S. Tumminia
2019American Journal of Clinical Pathology0 citations
Semantic Scholar
Analysis of the PRPH2-associated Retinopathy Cohort within the National Ophthalmic Disease Genotype Phenotype Network (eyeGENE®)
S. Tumminia, W. Zein, R. Hufnagel, Kerry E. Goetz +1 more
20180 citations
Semantic Scholar
eyeGENE®: A Model for Advancing Research of Rare, Inherited Eye Conditions Through Biobanking and Data Sharing
Rebecca S Parrish, Kerry E. Goetz, S. Tumminia
2018Essentials in Ophthalmology0 citations
Semantic Scholar
Beyond SNVs: comprehensive cohort-level analytics of 100 samples from the eyeGENE® program
R. Hufnagel, Bin Guan, David M. McGaughey, Melissa J. Reeves +6 more
20180 citations
Semantic Scholar
NEI eyeGENE® clinical research data accessibility through a Biomedical Research Informatics Computing System
S. Tumminia, Yvonne O Akporji, Chelsea Bender, Jemma Iano-Fletcher +6 more
20170 citations
Semantic Scholar
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
Jackson Y Gao, Leera D’Souza, K. Wetherby, C. Antolik +4 more
2017Cell & Bioscience0 citations Open access
Semantic Scholar
A Set of Ophthalmologic Logical Observation Identifiers Names and Codes (LOINC®) for Standardizing Data Collection in eyeGENE® and in Other Ocular Clinical Studies
S. Tumminia, S. Abhyankar, Bryant Hendrickson, R. Hufnagel +3 more
20160 citations
Semantic Scholar
eyeGENE®: a cross-cutting international inherited eye disease clinical research network
S. Tumminia, D. Blain, Remy C. Cooper, Alexandra V. Garafalo +5 more
20150 citations
Semantic Scholar

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