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

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

por Jacobson, Samuel G, Cideciyan, Artur V, Aguirre, Gustavo D, Roman, Alejandro J, Sumaroka, Alexander, Hauswirth, William W, Palczewski, Krzysztof
Publicado 2015

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

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

por Sumaroka, Alexander, Cideciyan, Artur V., Charng, Jason, Wu, Vivian, Powers, Christian A., Iyer, Bhavya S., Lisi, Brianna, Swider, Malgorzata, Jacobson, Samuel G.
Publicado 2019

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

por Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2017

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

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

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

por Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Windsor, Elizabeth A.M., Swider, Malgorzata, Herrera, Waldo, Stone, Edwin M.
Publicado 2009

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations

por Cideciyan, Artur V., Jacobson, Samuel G., Roman, Alejandro J., Sumaroka, Alexander, Wu, Vivian, Charng, Jason, Lisi, Brianna, Swider, Malgorzata, Aguirre, Gustavo D., Beltran, William A.
Publicado 2020

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

Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes

por Cideciyan, Artur V., Jacobson, Samuel G., Ho, Allen C., Swider, Malgorzata, Sumaroka, Alexander, Roman, Alejandro J., Wu, Vivian, Russell, Robert C., Viarbitskaya, Iryna, Garafalo, Alexandra V., Schwartz, Michael R., Girach, Aniz
Publicado 2023

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

por McGuigan, David B., Heon, Elise, Cideciyan, Artur V., Ratnapriya, Rinki, Lu, Monica, Sumaroka, Alexander, Roman, Alejandro J., Batmanabane, Vaishnavi, Garafalo, Alexandra V., Stone, Edwin M., Swaroop, Anand, Jacobson, Samuel G.
Publicado 2017

Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations

por Beltran, William A., Cideciyan, Artur V., Guziewicz, Karina E., Iwabe, Simone, Swider, Malgorzata, Scott, Erin M., Savina, Svetlana V., Ruthel, Gordon, Stefano, Frank, Zhang, Lingli, Zorger, Richard, Sumaroka, Alexander, Jacobson, Samuel G., Aguirre, Gustavo D.
Publicado 2014

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

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

por Boye, Shannon E., Huang, Wei-Chieh, Roman, Alejandro J., Sumaroka, Alexander, Boye, Sanford L., Ryals, Renee C., Olivares, Melani B., Ruan, Qing, Tucker, Budd A., Stone, Edwin M., Swaroop, Anand, Cideciyan, Artur V., Hauswirth, William W., Jacobson, Samuel G.
Publicado 2014