Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Garafalo, Alexandra V., Cideciyan, Artur V., Héon, Elise, Sheplock, Rebecca, Pearson, Alexander, WeiYang Yu, Caberry, Sumaroka, Alexander, Aguirre, Gustavo D., Jacobson, Samuel G.
Published in Progress in retinal and eye research (01.07.2020)
Published in Progress in retinal and eye research (01.07.2020)
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Journal Article
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.
Published in Nature medicine (01.02.2019)
Published in Nature medicine (01.02.2019)
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Journal Article
Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease
Roman, Alejandro J., Cideciyan, Artur V., Wu, Vivian, Garafalo, Alexandra V., Jacobson, Samuel G.
Published in Progress in retinal and eye research (01.03.2022)
Published in Progress in retinal and eye research (01.03.2022)
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Journal Article
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations
Cideciyan, Artur V., Jacobson, Samuel G., Sumaroka, Alexander, Swider, Malgorzata, Krishnan, Arun K., Sheplock, Rebecca, Garafalo, Alexandra V., Guziewicz, Karina E., Aguirre, Gustavo D., Beltran, William A., Matsui, Yoshitsugu, Kondo, Mineo, Heon, Elise
Published in Vision research (Oxford) (01.02.2023)
Published in Vision research (Oxford) (01.02.2023)
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Journal Article
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
Sumaroka, Alexander, Garafalo, Alexandra V, Cideciyan, Artur V, Charng, Jason, Roman, Alejandro J, Choi, Windy, Saxena, Supna, Aksianiuk, Valeryia, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G
Published in Investigative ophthalmology & visual science (05.12.2018)
Published in Investigative ophthalmology & visual science (05.12.2018)
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Journal Article
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function
Jacobson, Samuel G, Cideciyan, Artur V, Sumaroka, Alexander, Roman, Alejandro J, Wu, Vivian, Swider, Malgorzata, Sheplock, Rebecca, Krishnan, Arun K, Garafalo, Alexandra V
Published in International journal of molecular sciences (18.02.2021)
Published in International journal of molecular sciences (18.02.2021)
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Journal Article
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy
Cideciyan, Artur V, Roman, Alejandro J, Warner, Raymond L, Sumaroka, Alexander, Wu, Vivian, Jiang, Yu Y, Swider, Malgorzata, Garafalo, Alexandra V, Viarbitskaya, Iryna, Russell, Robert C, Kohl, Susanne, Wissinger, Bernd, Ripamonti, Caterina, Barbur, John L, Bach, Michael, Carroll, Joseph, Morgan, Jessica I W, Aleman, Tomas S
Published in International journal of molecular sciences (01.10.2024)
Published in International journal of molecular sciences (01.10.2024)
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Journal Article
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
Roman, Alejandro J, Cideciyan, Artur V, Wu, Vivian, Mascio, Abraham A, Krishnan, Arun K, Garafalo, Alexandra V, Jacobson, Samuel G
Published in BMC ophthalmology (14.06.2022)
Published in BMC ophthalmology (14.06.2022)
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Journal Article
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials
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
Published in International journal of molecular sciences (21.05.2019)
Published in International journal of molecular sciences (21.05.2019)
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Journal Article
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
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., Cheang, Bee-Lin, Davidson, Vanessa, O'Riordan, Catherine R., Dizhoor, Alexander M., Boye, Shannon E.
Published in iScience (21.05.2021)
Published in iScience (21.05.2021)
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Journal Article
Night vision restored in days after decades of congenital blindness
Jacobson, Samuel G., Cideciyan, Artur V., Ho, Allen C., Roman, Alejandro J., Wu, Vivian, Garafalo, Alexandra V., Sumaroka, Alexander, Krishnan, Arun K., Swider, Malgorzata, Mascio, Abraham A., Kay, Christine N., Yoon, Dan, Fujita, Kenji P., Boye, Sanford L., Peshenko, Igor V., Dizhoor, Alexander M., Boye, Shannon E.
Published in iScience (21.10.2022)
Published in iScience (21.10.2022)
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Journal Article
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
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
Published in Translational vision science & technology (24.01.2023)
Published in Translational vision science & technology (24.01.2023)
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Journal Article
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
Cideciyan, Artur V., Jacobson, Samuel G., Ho, Allen C., Krishnan, Arun K., Roman, Alejandro J., Garafalo, Alexandra V., Wu, Vivian, Swider, Malgorzata, Sumaroka, Alexander, Van Cauwenbergh, Caroline, Russell, Stephen R., Drack, Arlene V., Leroy, Bart P., Schwartz, Michael R., Girach, Aniz
Published in Ophthalmology science (Online) (01.06.2022)
Published in Ophthalmology science (Online) (01.06.2022)
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Journal Article
Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report
Cideciyan, Artur V., Jacobson, Samuel G., Ho, Allen C., Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Krishnan, Arun K., Swider, Malgorzata, Schwartz, Michael R., Girach, Aniz
Published in Nature medicine (01.05.2021)
Published in Nature medicine (01.05.2021)
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Journal Article
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Russell, Stephen R., Drack, Arlene V., Cideciyan, Artur V., Jacobson, Samuel G., Leroy, Bart P., Van Cauwenbergh, Caroline, Ho, Allen C., Dumitrescu, Alina V., Han, Ian C., Martin, Mitchell, Pfeifer, Wanda L., Sohn, Elliott H., Walshire, Jean, Garafalo, Alexandra V., Krishnan, Arun K., Powers, Christian A., Sumaroka, Alexander, Roman, Alejandro J., Vanhonsebrouck, Eva, Jones, Eltanara, Nerinckx, Fanny, De Zaeytijd, Julie, Collin, Rob W. J., Hoyng, Carel, Adamson, Peter, Cheetham, Michael E., Schwartz, Michael R., den Hollander, Wilhelmina, Asmus, Friedrich, Platenburg, Gerard, Rodman, David, Girach, Aniz
Published in Nature medicine (01.05.2022)
Published in Nature medicine (01.05.2022)
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Journal Article
Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence
Sumaroka, Alexander, Garafalo, Alexandra V, Semenov, Evelyn P, Sheplock, Rebecca, Krishnan, Arun K, Roman, Alejandro J, Jacobson, Samuel G, Cideciyan, Artur V
Published in Investigative ophthalmology & visual science (01.06.2019)
Published in Investigative ophthalmology & visual science (01.06.2019)
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Journal Article
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5
Li, Randa T H, Roman, Alejandro J, Sumaroka, Alexander, Stanton, Chloe M, Swider, Malgorzata, Garafalo, Alexandra V, Heon, Elise, Vincent, Ajoy, Wright, Alan F, Megaw, Roly, Aleman, Tomas S, Browning, Andrew C, Dhillon, Baljean, Cideciyan, Artur V
Published in Investigative ophthalmology & visual science (01.12.2023)
Published in Investigative ophthalmology & visual science (01.12.2023)
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Journal Article
Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years
Cideciyan, Artur V, Charng, Jason, Roman, Alejandro J, Sheplock, Rebecca, Garafalo, Alexandra V, Heon, Elise, Jacobson, Samuel G
Published in Investigative ophthalmology & visual science (04.09.2018)
Published in Investigative ophthalmology & visual science (04.09.2018)
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Journal Article
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation
Calzetti, Giacomo, Levy, Richard A., Cideciyan, Artur V., Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Charng, Jason, Heon, Elise, Jacobson, Samuel G.
Published in American journal of ophthalmology (01.09.2018)
Published in American journal of ophthalmology (01.09.2018)
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