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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. Deveault C, et al. Among authors: duncan jl. Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21344540
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Billingsley G, et al. Among authors: duncan jl. J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472660
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: duncan jl. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL 3rd, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Birch DG, et al. Among authors: duncan jl. Transl Vis Sci Technol. 2020 Oct 8;9(11):9. doi: 10.1167/tvst.9.11.9. eCollection 2020 Oct. Transl Vis Sci Technol. 2020. PMID: 33133772 Free PMC article.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: duncan jl. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 Free PMC article.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group. Hufnagel RB, et al. Among authors: duncan jl. Hum Mutat. 2022 May;43(5):613-624. doi: 10.1002/humu.24365. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266249 Free PMC article.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S; Foundation Fighting Blindness Consortium Investigator Group. Lad EM, et al. Among authors: duncan jl. Am J Ophthalmol. 2022 Dec;244:98-116. doi: 10.1016/j.ajo.2022.08.013. Epub 2022 Aug 22. Am J Ophthalmol. 2022. PMID: 36007554 Free PMC article.
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL 3rd, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA; Foundation Fighting Blindness Consortium Investigator Group. Duncan JL, et al. Am J Ophthalmol. 2020 Nov;219:87-100. doi: 10.1016/j.ajo.2020.05.024. Epub 2020 May 22. Am J Ophthalmol. 2020. PMID: 32446738 Free PMC article.
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.
Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: duncan jl. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.
367 results