Manuscripts

General

1. Todd A. Durham; Jacque L. Duncan; Allison R. Ayala; David G. Birch; Janet K. Cheetham; Frederick L. Ferris III; Carel B. Hoyng; Mark E. Pennesi; José-Alain Sahel. Tackling the Challenges of Product Development through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium. Transl Vis Sci Technol. 2021 Apr; 10(4):23. doi: https://doi.org/10.1167/tvst.10.4.23. (Accepted).
(Manuscript) |  View Publication   
 

Protocol RUSH2A - Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A)

1. David G. Birch; Peiyao Cheng; Jacque L. Duncan; Allison R. Ayala; Maureen G. Maguire; Isabelle Audo; Janet K. Cheetham; Todd A Durham; Abigail T. Fahim; Frederick L. Ferris III; Elise Heon; Rachel M. Huckfeldt; Alessandro Iannaccone; Naheed W. Khan; Eleonora M. Lad; Michel Michaelides; Mark E. Pennesi; Katarina Stingl; Ajoy Vincent; Christina Y. Weng. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 Oct;9(11):9. doi:10.1167/tvst.9.11.9 (Published).
(Manuscript) |  View Publication   
 
2. Jacque L. Duncan; Wendi Liang; Maureen G. Maguire; Isabelle Audo; Allison R. Ayala; David G. Birch; Joseph Carroll; Janet K. Cheetham; Simona Degli Esposti; Todd A. Durham; Laura Erker; Sina Farsiu; Frederick L. Ferris III; Elise Heon; Robert B. Hufnagel; Alessandro Iannaccone; Glenn J. Jaffe; Christine N. Kay; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity. Am J of Ophthalmol. 2020 Nov;219:87-100. doi: 10.1016/j.ajo.2020.05.024 (Published).
(Manuscript) |  View Publication   
 
3. Alessandro Iannaccone; Carmen C. Brewer; Peiyao Cheng; Jacque L. Duncan; Maureen G. Maguire; Isabelle Audo, Allison R. Ayala; Paul S. Bernstein; Gavin M. Bidelman; Janet K. Cheetham; Richard L. Doty; Todd A. Durham; Robert B. Hufnagel; Mark H. Myers; Katarina Stingl; Wadih M. Zein. Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). Am J Med Genet A. 2021 Dec; 185(12): 3717-3727. doi: 10.1002/ajmg.a.62437 (Accepted).
(Manuscript) |  View Publication   
 
4. David G. Birch; Lassana Samarakoon; Michele Melia; Jacque L. Duncan; Allison R. Ayala; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Alessandro Iannaccone; Mark E. Pennesi; Katarina Stingl. The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene. Invest Ophthalmol Vis Sci. 2022;63(3):17. doi:10.1167/iovs.63.3.17 (Published).
(Manuscript) |  View Publication   
 
5. Robert B Hufnagel; Wendi Liang; Jacque L Duncan; Carmen C Brewer; Isabelle Audo; Allison R Ayala; Kari Branham; Janet K Cheetham; Stephen P Daiger; Todd A Durham; Bin Guan; Elise Heon; Carel B Hoyng; Alessandro Iannaccone; Christine N Kay; Michel Michaelides; Mark E Pennesi; Mandeep S Singh; Ehsan Ullah. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum Mutat. 2022;43(5):613-624. doi:10.1002/humu.24365 (Accepted).
(Manuscript) |  View Publication   
 
6. Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Travis C. Porco, Jessica Wong, Isabelle Audo, Jenna A. Cava, Kate Grieve, Angelos Kalitzeos, Joseph Kreis, Michel Michaelides, Nathaniel Norberg, Michel Paques, Joseph Carroll. Change in cone structure over 24 months in USH2A-related retinal degeneration. Am J Ophthalmol. 2023 Aug;252:77-93. doi: 10.1016/j.ajo.2023.03.006. (Published).
(Manuscript) |  View Publication   
 
7. Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu. Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. Am J Ophthalmol. 2022;244:98-116. doi:10.1016/j.ajo.2022.08.013 (Accepted).
(Manuscript) |  View Publication