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 for the Foundation Fighting Blindness Consortium Investigator Group.. 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. PMID: 34004001 PMCID: PMC8083110 (Published).
(Manuscript) | View Publication
|
2. Maureen G. Maguire, David G. Birch, Jacque L. Duncan, Allison R. Ayala, Lauren N. Ayton, Janet K. Cheetham, Peiyao Cheng, Todd A. Durham, Frederick L. Ferris, Carel B. Hoyng, Rachel M. Huckfeldt, Glenn J. Jaffe, Christine Kay, Eleonora M. Lad, Bart P. Leroy, Wendi Liang, Lee S. McDaniel, Michele Melia, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Lassana Samarakoon for the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group.. Endpoints and Design for Clinical Trials in USH2A-related Retinal Degeneration: Results and Recommendations from the RUSH2A Natural History Study. Transl. Vis. Sci. Technol. 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. PMID: 39382872; PMCID: PMC11469320. (Published).
(Manuscript) | View Publication
|
3. Kari Branham, Lassana Samarakoon, Isabelle Audo, Allison R. Ayala, Janet K. Cheetham, Stephen P. Daiger, Patricia Dhooge, Jacque L. Duncan, Todd A. Durham, Abigail T. Fahim, Rachel M. Huckfeldt, Robert B. Hufnagel, Suzanne Kohl, Ramiro S. Maldonado, Michele Melia, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Juliana M. Sallum, Mandeep S. Singh, Dror Sharon, Kimberly E. Stepien, Kaylie Jones, Christina Y. Weng for the Foundation Fighting Blindness Clinical Consortium Investigator Group.. Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium’s Gene Poll.. Invest. Ophthalmol. Vis. Sci. 2025;66(2):12. doi: 10.1167/iovs.66.2.12. PMID: 39908130; PMCID: PMC11804890. (Published).
(Manuscript) | View Publication
|
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 for the Foundation Fighting Blindness Consortium Investigator Group.. 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 PMID: 33133772 PMCID: PMC7552938 (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 for the Foundation Fighting Blindness Consortium Investigator Group.. 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 PMID: 32446738 PMCID: PMC8596302 (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 for the Fighting Blindness Consortium Investigator Group.. 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 PMID: 34331386 PMCID: PMC8717864 (Published).
(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 for the Fighting Blindness Consortium Investigator Group.. 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 PMID: 35293952 PMCID: PMC8944389 (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 for the Foundation Fighting Blindness Consortium Investigator Group.. 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 PMID: 35266249 PMCID: PMC9018588 (Published).
(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 for the Foundation Fighting Blindness Consortium Investigator Group.. 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. Epub 2023 Mar 21. PMID: 36948373; PMCID: PMC11087021 (Published).
(Manuscript) | View Publication
|
7. Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison R. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Stingl K, Christina Y. Weng for the Foundation Fighting Blindness Consortium Investigator Group.. Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years. Am J Ophthalmol.2023;250:103-110.
doi: 10.1016/j.ajo.2023.02.002. PMID: 36764426 PMCID: PMC10705000 (Published).
(Manuscript) | View Publication
|
8. 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 PMID: 36007554 PMCID: PMC9712171 (Published).
(Manuscript) | View Publication
|
9. Elise Heon, Michele Melia, Laura E. Bocchino, Lassana Samarakoon, Jacque L. Duncan, Allison R. Ayala, Isabelle Audo, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Carel B. Hoyng, Nieraj Jain, Kanishka T. Jayasundera, Mark E. Pennesi, Christina Y. Weng for the Foundation Fighting Blindness Consortium Investigator Group.. Functional Vision in Patients With Biallelic USH2A Variants. Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21. PMID: 38135239 PMCID: PMC11844904 (Published).
(Manuscript)
|
10. Bela Parekh, Jacque L. Duncan, Lassana Samarakoon, Michele Melia, Maria Fernanda Abalem, Chris A. Andrews, Isabelle Audo, Allison R. Ayala, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Rachel M. Huckfeldt, Gabrielle D. Lacy, Brett Malbin, Michel Michaelides, David C. Musch, Nicholas Peck-Dimit, Katarina Stingl, Christine Y. Weng, Alex Z. Zmejkoski, K. Thiran Jayasundera for the Foundation Fighting Blindness Clinical Consortium Investigator Group.. Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire. Invest. Ophthalmol. Vis. Sci. 2024;65(6):5. doi: 10.1167/iovs.65.6.5 PMCID: PMC11156206
PMID: 38833260 (Published).
(Manuscript) | View Publication
|
11. David G. Birch, Peiyao Cheng, Maureen G. Maguire, Jacque L. Duncan, Allison R. Ayala, Janet K. Cheetham, Nicole R. Doucet, Todd A. Durham, Abigail T. Fahim, Frederick L. Ferris, Rachel M. Huckfeldt, Michele Melia, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y. Weng for the Foundation Fighting Blindness Clinical Consortium Investigator Group.. Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study. Ophthalmology Science. 2025 March-April; 5:2(10). https://doi.org/10.1016/j.xops.2024.100648. PMID: 39811264 PMCID: PMC11730847 (Published).
(Manuscript) | View Publication
|