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Erin Zampaglione
Erin Zampaglione
未知所在单位机构
在 meei.harvard.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
802020
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
222020
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
102021
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
92022
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
82017
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
62023
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
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