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

by Alexandra V. Garafalo, Rebecca Sheplock, Alexander Sumaroka, Alejandro J. Roman, Artur V. Cideciyan, Samuel G. Jacobson
Published 2021-01-01

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

by Alexander Sumaroka, Artur V. Cideciyan, Rebecca Sheplock, Vivian Wu, Susanne Kohl, Bernd Wissinger, Samuel G. Jacobson
Published 2020-08-01

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

by Alexander Sumaroka, Artur V. Cideciyan, Jason Charng, Vivian Wu, Christian A. Powers, Bhavya S. Iyer, Brianna Lisi, Malgorzata Swider, Samuel G. Jacobson
Published 2019-10-01

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

by Rinki Ratnapriya, Rinki Ratnapriya, Samuel G. Jacobson, Artur V. Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Published 2021-08-01

CDHR1 mutations in retinal dystrophies

by Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
Published 2017-08-01

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

by Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Malgorzata Swider, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo
Published 2021-02-01

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.

by Melissa L Williams, Jason E Coleman, Shannon E Haire, Tomas S Aleman, Artur V Cideciyan, Izabel Sokal, Krzysztof Palczewski, Samuel G Jacobson, Susan L Semple-Rowland
Published 2006-06-01

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

by Alejandro J. Roman, Christian A. Powers, Evelyn P. Semenov, Rebecca Sheplock, Valeryia Aksianiuk, Robert C. Russell, Alexander Sumaroka, Alexandra V. Garafalo, Artur V. Cideciyan, Samuel G. Jacobson
Published 2019-05-01

Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.

by Xinhua Shu, Ulrich F O Luhmann, Tomas S Aleman, Susan E Barker, Alan Lennon, Brian Tulloch, Mei Chen, Heping Xu, Samuel G Jacobson, Robin Ali, Alan F Wright
Published 2011-01-01

Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and Blind.

by Geoffrey K Aguirre, Ritobrato Datta, Noah C Benson, Sashank Prasad, Samuel G Jacobson, Artur V Cideciyan, Holly Bridge, Kate E Watkins, Omar H Butt, Aleksandra S Dain, Lauren Brandes, Efstathios D Gennatas
Published 2016-01-01

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

by David B. McGuigan, Elise Heon, Artur V. Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J. Roman, Vaishnavi Batmanabane, Alexandra V. Garafalo, Edwin M. Stone, Anand Swaroop, Samuel G. Jacobson
Published 2017-07-01

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations.

by William A Beltran, Artur V Cideciyan, Karina E Guziewicz, Simone Iwabe, Malgorzata Swider, Erin M Scott, Svetlana V Savina, Gordon Ruthel, Frank Stefano, Lingli Zhang, Richard Zorger, Alexander Sumaroka, Samuel G Jacobson, Gustavo D Aguirre
Published 2014-01-01

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.

by Xunda Luo, Artur V Cideciyan, Alessandro Iannaccone, Alejandro J Roman, Lauren C Ditta, Barbara J Jennings, Svetlana A Yatsenko, Rebecca Sheplock, Alexander Sumaroka, Malgorzata Swider, Sharon B Schwartz, Bernd Wissinger, Susanne Kohl, Samuel G Jacobson
Published 2015-01-01

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

by Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye
Published 2021-05-01

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

by Geoffrey K Aguirre, András M Komáromy, Artur V Cideciyan, David H Brainard, Tomas S Aleman, Alejandro J Roman, Brian B Avants, James C Gee, Marc Korczykowski, William W Hauswirth, Gregory M Acland, Gustavo D Aguirre, Samuel G Jacobson
Published 2007-06-01

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

by Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop
Published 2017-07-01

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

by Shannon E Boye, Wei-Chieh Huang, Alejandro J Roman, Alexander Sumaroka, Sanford L Boye, Renee C Ryals, Melani B Olivares, Qing Ruan, Budd A Tucker, Edwin M Stone, Anand Swaroop, Artur V Cideciyan, William W Hauswirth, Samuel G Jacobson
Published 2014-01-01

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

by Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Published 2016-01-01