Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast

por Roman, Alejandro J., Cideciyan, Artur V., Matsui, Rodrigo, Sheplock, Rebecca, Schwartz, Sharon B., Jacobson, Samuel G.
Publicado 2015

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

por Sumaroka, Alexander, Cideciyan, Artur V., Sheplock, Rebecca, Wu, Vivian, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Publicado 2020

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

por Garafalo, Alexandra V., Sheplock, Rebecca, Sumaroka, Alexander, Roman, Alejandro J., Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2021

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

por Semenov, Evelyn P., Sheplock, Rebecca, Roman, Alejandro J., McGuigan, David B., Swider, Malgorzata, Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2020

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

por Ratnapriya, Rinki, Jacobson, Samuel G., Cideciyan, Artur V., English, Milton A., Roman, Alejandro J., Sumaroka, Alexander, Sheplock, Rebecca, Swaroop, Anand
Publicado 2021

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

por Sumaroka, Alexander, Garafalo, Alexandra V., Semenov, Evelyn P., Sheplock, Rebecca, Krishnan, Arun K., Roman, Alejandro J., Jacobson, Samuel G., Cideciyan, Artur V.
Publicado 2019

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

por Charng, Jason, Jacobson, Samuel G., Heon, Elise, Roman, Alejandro J., McGuigan, David B., Sheplock, Rebecca, Kosyk, Mychajlo S., Swider, Malgorzata, Cideciyan, Artur V.
Publicado 2017

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function

por Jacobson, Samuel G., Cideciyan, Artur V., Sumaroka, Alexander, Roman, Alejandro J., Wu, Vivian, Swider, Malgorzata, Sheplock, Rebecca, Krishnan, Arun K., Garafalo, Alexandra V.
Publicado 2021

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

por Jacobson, Samuel G., McGuigan, David B., Sumaroka, Alexander, Roman, Alejandro J., Gruzensky, Michaela L., Sheplock, Rebecca, Palma, Judy, Schwartz, Sharon B., Aleman, Tomas S., Cideciyan, Artur V.
Publicado 2016

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials

por Roman, Alejandro J., Powers, Christian A., Semenov, Evelyn P., Sheplock, Rebecca, Aksianiuk, Valeryia, Russell, Robert C., Sumaroka, Alexander, Garafalo, Alexandra V., Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2019

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

por Cideciyan, Artur V., Jacobson, Samuel G., Swider, Malgorzata, Sumaroka, Alexander, Sheplock, Rebecca, Krishnan, Arun K., Garafalo, Alexandra V., Guziewicz, Karina E., Aguirre, Gustavo D., Beltran, William A., Heon, Elise
Publicado 2022

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

por Mascio, Abraham A., Roman, Alejandro J., Cideciyan, Artur V., Sheplock, Rebecca, Wu, Vivian, Garafalo, Alexandra V., Sumaroka, Alexander, Pirkle, Sydney, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G., Barbur, John L.
Publicado 2023

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

por Luo, Xunda, Cideciyan, Artur V., Iannaccone, Alessandro, Roman, Alejandro J., Ditta, Lauren C., Jennings, Barbara J., Yatsenko, Svetlana A., Sheplock, Rebecca, Sumaroka, Alexander, Swider, Malgorzata, Schwartz, Sharon B., Wissinger, Bernd, Kohl, Susanne, Jacobson, Samuel G.
Publicado 2015

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

por Jacobson, Samuel G., Cideciyan, Artur V., Ho, Allen C., Peshenko, Igor V., Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Wu, Vivian, Krishnan, Arun K., Sheplock, Rebecca, Boye, Sanford L., Dizhoor, Alexander M., Boye, Shannon E.
Publicado 2021