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RNA-based therapies in inherited retinal diseases.
Girach A, Audo I, Birch DG, Huckfeldt RM, Lam BL, Leroy BP, Michaelides M, Russell SR, Sallum JMF, Stingl K, Tsang SH, Yang P. Girach A, et al. Among authors: huckfeldt rm. Ther Adv Ophthalmol. 2022 Nov 4;14:25158414221134602. doi: 10.1177/25158414221134602. eCollection 2022 Jan-Dec. Ther Adv Ophthalmol. 2022. PMID: 36388727 Free PMC article. Review.
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: huckfeldt rm. 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.
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. Georgiou M, et al. Among authors: huckfeldt rm. Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11. Am J Ophthalmol. 2021. PMID: 33309813 Free PMC article.
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M. Georgiou M, et al. Among authors: huckfeldt rm. Am J Ophthalmol. 2021 Oct;230:1-11. doi: 10.1016/j.ajo.2021.03.004. Epub 2021 Mar 15. Am J Ophthalmol. 2021. PMID: 33737031 Free PMC article.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. da Palma MM, et al. Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):27. doi: 10.1167/iovs.62.7.27. Invest Ophthalmol Vis Sci. 2021. PMID: 34185059 Free PMC article.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: huckfeldt rm. NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8. NPJ Genom Med. 2021. PMID: 34188062 Free PMC article.
Disparities in Inherited Retinal Degenerations.
Chorfi S, Place EM, Huckfeldt RM. Chorfi S, et al. Among authors: huckfeldt rm. Semin Ophthalmol. 2023 Feb;38(2):201-206. doi: 10.1080/08820538.2022.2152715. Epub 2022 Dec 19. Semin Ophthalmol. 2023. PMID: 36536519
44 results