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Author Details

Santa J Tumminia
National Eye Institute
1989
45
16
PMIDPaper TitleJournal TitlePublished Year
34736763The 2021 National Eye Institute Strategic Plan: Eliminating Vision Loss and Improving Quality of Life.Ophthalmology2022
35353811Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS Genet2022
35525297Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials.Exp Eye Res2022
35456481Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.Genes (Basel)2022
36108770Systems genomics in age-related macular degeneration.Exp Eye Res2022
34383880The NEI Audacious Goals Initiative: Advancing the Frontier of Regenerative Medicine.Transl Vis Sci Technol2021
32531846Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Hum Mutat2020
33200045Ocular Surface - Merging Challenges and Opportunities.Transl Vis Sci Technol2020
32832254NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.Transl Vis Sci Technol2020
32893963Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.Am J Med Genet C Semin Med Genet2020
29105735Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.Clin Pharmacol Ther2018
28451379Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the <i>OCA2</i> gene revealed a co-segregation of the controversial variant, p.R305W.Cell Biosci2017
26891080Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.Biopreserv Biobank2016
25082885Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Invest Ophthalmol Vis Sci2014
25205868CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.Invest Ophthalmol Vis Sci2014
23662816eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.Clin Genet2013
23950152Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Invest Ophthalmol Vis Sci2013
22562854Harnessing academia, government, and industry.Invest Ophthalmol Vis Sci2012
22847030eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.Curr Opin Ophthalmol2012
22025579High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Invest Ophthalmol Vis Sci2011
18332328Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).Arch Ophthalmol2008
14607518Tempol-H inhibits opacification of lenses in organ culture.Free Radic Biol Med2003
11161727Three distinct stages of lens opacification in transgenic mice expressing the HIV-1 protease.Exp Eye Res2001
11021323The tensegrity model applied to the lens: a hypothesis for the presence of the fiber cell ball and sockets.Med Hypotheses2000
9660484Mechanical stretch alters the actin cytoskeletal network and signal transduction in human trabecular meshwork cells.Invest Ophthalmol Vis Sci1998
9196037Transient loss of alphaB-crystallin: an early cellular response to mechanical stretch.Biochem Biophys Res Commun1997
9245895Light scattering and morphology of cataract formation in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter.Exp Eye Res1997
8550598Cataractogenesis in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter.J Biol Chem1996
8921227A comparison of antioxidant enzyme activities in organ-cultured rhesus monkey lenses following peroxide challenge.Curr Eye Res1996
8943220Cysteine protease activated by expression of HIV-1 protease in transgenic mice. MIP26 (aquaporin-0) cleavage and cataract formation in vivo and ex vivo.J Biol Chem1996
8670779Investigations into the loss of glutathione from lenses in organ culture.Curr Eye Res1996
8554313Lens hydration in transgenic mice containing HIV-1 protease linked to the lens alpha A-crystallin promoter.Arch Biochem Biophys1995
7896758Alpha B-crystallin accumulation in human astroglioma cell line U373MG is stress-dependent and phosphorylation-independent.J Biochem1994
8308887Visualization of protein-nucleic acid interactions involved in the in vitro assembly of the Escherichia coli 50 S ribosomal subunit.J Mol Biol1994
8174656The integrity of mammalian lenses in organ culture.Exp Eye Res1994
8268208Xenobiotic induction of quinone oxidoreductase activity in lens epithelial cells.Biochim Biophys Acta1993
1288613Image analysis of Artemia salina ribosomes by scanning transmission electron microscopy.J Struct Biol1992
1742364Heterogeneity of Escherichia coli ribosomes established by scanning transmission electron microscopy.Biochimie1991
1766869A paradigm for local conformational control of function in the ribosome: binding of ribosomal protein S19 to Escherichia coli 16S rRNA in the presence of S7 is required for methylation of m2G966 and blocks methylation of m5C967 by their respective methyltransferases.Nucleic Acids Res1991
1817605Localization of a specific nucleotide in yeast tRNA by scanning transmission electron microscopy using an undecagold cluster.J Struct Biol1991
1896466Assembly of the Escherichia coli 30S ribosomal subunit reveals protein-dependent folding of the 16S rRNA domains.Proc Natl Acad Sci U S A1991
2223842Hydrostatic pressure studies of native and synthetic thick filaments: II. Native thick filaments from rabbit skeletal muscle.Biochim Biophys Acta1990
2407189Visualization of ion-dependent conformational changes in Escherichia coli 23 S rRNA by scanning transmission electron microscopy.Arch Biochem Biophys1990
2574997Hydrostatic pressure studies of native and synthetic thick filaments: in vitro myosin aggregates at pH 7.0 with and without C-protein.Biochim Biophys Acta1989
2689654Protein-induced conformational changes in 16 S ribosomal RNA during the initial assembly steps of the Escherichia coli 30 S ribosomal subunit.J Mol Biol1989
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Collaborators

Paul Russell
The Scripps Research Institute
Co-authored papers 14
Kerry E Goetz
National Eye Institute, National Institute of Health
Co-authored papers 9
Radha Ayyagari
Shiley Eye Institute, University of California San Diego
Co-authored papers 3
David L Epstein
St. Erik Eye Hospital, Karolinska Institutet
Co-authored papers 2
Jonathan L Haines
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 2
Rando Allikmets
Columbia University Medical Center
Co-authored papers 2
Brian P Brooks
Co-authored papers 2
Catherine A Cukras
Unit on Clinical Investigation of Retinal Disease, National Eye Institute
Co-authored papers 2
Felix Grassmann
Karolinska Institutet
Co-authored papers 2
Sobha Sivaprasad
NIHR Moorfields Biomedical Research Centre, Moorfields Eye Hospital
Co-authored papers 1
Charles A Reisman
Co-authored papers 1
Tiarnan D L Keenan
National Eye Institute, National Institutes of Health
Co-authored papers 1
Anne Marie Cairns
10 Maine Medical Center
Co-authored papers 1
Luca Zalunardo
Co-authored papers 1
Hao Chen
Co-authored papers 1
Mary K Durbin
Carl Zeiss Meditec Inc.
Co-authored papers 1
Rui Chen
Co-authored papers 1
David L Veenstra
University of Washington
Co-authored papers 1
Joshua C Denny
Vanderbilt University
Co-authored papers 1
Antonio Yaghy
Tufts University Medical Center
Co-authored papers 1
Howard L McLeod
Center for Precision Medicine and Functional Genomics, Utah Tech University
Co-authored papers 1
Elizabeth J Phillips
Vanderbilt University Medical Center
Co-authored papers 1
Caroline C W Klaver
Erasmus Medical Center
Co-authored papers 1
Michael B Gorin
Jules Stein Eye Institute
Co-authored papers 1
Nadia K Waheed
Tufts University School of Medicine
Co-authored papers 1
Naoto Honda
CO. LTD
Co-authored papers 1
Daniel S W Ting
Singapore Eye Research Institute
Co-authored papers 1
Cynthia Owsley
University of Alabama at Birmingham
Co-authored papers 1
Robert F Mullins
the University of Iowa Carver College of Medicine
Co-authored papers 1
Kelly A Frazer
University of California, USA Institute for Genomic Medicine
Co-authored papers 1
Release 1.2