Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations E Zampaglione, B Kinde, EM Place, D Navarro-Gomez, M Maher, ... Genetics in Medicine 22 (6), 1079-1087, 2020 | 80 | 2020 |
Expanding the phenotypic spectrum in RDH12-associated retinal disease HA Scott, EM Place, K Ferenchak, E Zampaglione, NE Wagner, KR Chao, ... Molecular Case Studies 6 (1), a004754, 2020 | 22 | 2020 |
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD R Sangermano, I Deitch, VG Peter, R Ba-Abbad, EM Place, ... NPJ Genomic Medicine 6 (1), 53, 2021 | 10 | 2021 |
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK) E Zampaglione, M Maher, EM Place, NE Wagner, S DiTroia, KR Chao, ... Genetics in Medicine 24 (2), 332-343, 2022 | 9 | 2022 |
Large scale matching of function to the genetic identity of retinal ganglion cells F Pisano, E Zampaglione, N McAlinden, J Roebber, MD Dawson, ... Scientific reports 7 (1), 15395, 2017 | 8 | 2017 |
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker J Comander, CW DiFranco, K Sanderson, E Place, M Maher, ... JCI insight 8 (15), 2023 | 6 | 2023 |
Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression … CW DiFranco, J Comander, KG Sanderson, E Place, M Maher, ... Investigative Ophthalmology & Visual Science 64 (8), 4446-4446, 2023 | | 2023 |
Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa R Sangermano, E Galdikaite-Braziene, E Zampaglione, EA Pierce, ... Investigative Ophthalmology & Visual Science 63 (7), 1594–A0383-1594–A0383, 2022 | | 2022 |
Large scale matching of anatomy and function of retinal ganglion cells F Pisano, E Zampaglione, N McAlinden, J Roebber, MD Dawson, ... Investigative Ophthalmology & Visual Science 57 (12), 3587-3587, 2016 | | 2016 |
Transcription factors Satb1 and Satb2 are required for normal direction selective responses in the mouse retina E Zampaglione, N Sweeney, A Litke, D Feldheim, A Sher Investigative Ophthalmology & Visual Science 57 (12), 2755-2755, 2016 | | 2016 |
Functional, anatomical, and genetic characterization of mouse retinal ganglion cells E Zampaglione University of California, Santa Cruz, 2016 | | 2016 |
Population-Level Functional Characterization of Direction Selective Mouse Retinal Ganglion Cells E Zampaglione, N Sweeney, A Litke, D Feldheim, A Sher Investigative Ophthalmology & Visual Science 56 (7), 3245-3245, 2015 | | 2015 |
DSCAM is required for functional retinal circuitry A Ng, E Zampaglione, P Fuerst, R Burgess, A Litke, D Feldheim, A Sher Investigative Ophthalmology & Visual Science 54 (15), 2497-2497, 2013 | | 2013 |
Functional Classification of Mouse Retinal Ganglion Cells E Zampaglione, A Ng, J Roebber, D Feldheim, A Sher Investigative Ophthalmology & Visual Science 54 (15), 3388-3388, 2013 | | 2013 |