Publications

The following are recent publications from the members of this lab. Click on the title of a publication to read its abstract, or follow the Pubmed ID link to view the Pubmed entry.

Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years

Albert M Maguire, Stephen Russell, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Arlene V Drack, Francesca Simonelli, Bart P Leroy, Kathleen Z Reape, Katherine A High, Jean Bennett

Ophthalmology Oct 1 2021
Pubmed ID: 33798654
89 Five-year update for the Phase III voretigene neparvovec study in biallelic RPE65 mutation–associated inherited retinal disease

Bart P Leroy, Stephen R Russell, Jean Bennett, Katherine A High, Arlene V Drack, Zi-Fan Yu, Amy Tillman, Daniel Chung, Kathleen Z Reape, Albert M Maguire

Archives of Disease in Childhood Oct 1 2021
Pubmed ID:
Interpretation of electroretinograms in children–know your equipment

Wanda Pfeifer, Jennifer Wu, Arlene V Drack

Journal of the American Association for Pediatric Ophthalmology and Strabismus (JAAPOS) Aug 1 2021
Pubmed ID:
A different type of genetic therapy: correcting a defective gene using antisense oligonucleotide treatment in CEP290 p.Cys998X LCA

Arlene V Drack, Stephen R Russell, Artur V Cideciyan, Samuel G Jacobson, Bart P Leroy, Wanda L Pfeifer, Alina V Dumitrescu, Alexandra V Garafolo, Allen C Ho, Caroline Van Cauwenbergh, Julie De Zaeytijd, Wil den Hollander, Michael R Schwartz, Fredrich Asmu

Journal of American Association for Pediatric Ophthalmology and Strabismus Aug 1 2021
Pubmed ID:
Endothelial BBSome is essential for vascular, metabolic, and retinal functions

Jiang J, Reho JJ, Bhattarai S, Cherascu I, Hedberg-Buenz A, Meyer KJ, Tayyari F, Rauckhorst AJ, Guo DF, Morgan DA, Taylor EB, Anderson MG, Drack AV, Rahmouni K.

Molecular Metabolism Jul 23 2021
Pubmed ID: 34303879
Clinical phenocopies of albinism

Dumitrescu AV, Pfeifer WL, Drack AV.

Journal of American Association for Pediatric Ophthalmology and Strabismus Jul 17 2021
Pubmed ID: 34280564
Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations

Dangremond T, Wang K, Helms M, Bhattarai S, Pfeifer W, Drack AV.

Documenta Ophthalmologica Jun 26 2021
Pubmed ID: 34173938
Subretinal gene replacement rescues retinal phenotype in BBS10 mouse

Arlene V Drack, Angela Mahoney, Sajag Bhattarai, Sara Mayer, Jacintha Thomas, Poppy Datta, Ying Hsu, Janelle Garrison, Elise Heon, Charles Searby, Luk H Vandenberghe, Seongjin Seo, Val Sheffield

Investigative Ophthalmology & Visual Science Jun 21 2021
Pubmed ID:
Five-year post-injection results of the phase 3 trial of voretigene neparvovec-rzyl in biallelic RPE65 mutation-associated inherited retinal disease

Jean Bennett, Stephen R Russell, Katherine A High, Arlene V Drack, Zi-Fan Yu, Daniel C Chung, Kathy Reape, Albert M Maguire

Investigative Ophthalmology & Visual Science Jun 21 2021
Pubmed ID:
Safety and efficacy of sepofarsen in the second treated eye in a Ph1b/2 extension trial in Leber Congenital Amaurosis type 10 (LCA10)

Stephen R Russell, Arlene V Drack, Artur V Cideciyan, Samuel G Jacobson, Bart Leroy, Allen Ho, Caroline Van Cauwenbergh, Arun kumar Krishnan, Wilhelmina R den Hollender, Adriana Hollestein-Havelaar, Mike Schwartz, Aniz Girach

Investigative Ophthalmology & Visual Science Jun 21 2021
Pubmed ID:

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