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Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: huckfeldt rm. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. PMID: 38405922 Free PMC article. Preprint.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. de Guimaraes TAC, et al. Among authors: huckfeldt rm. Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print. Br J Ophthalmol. 2023. PMID: 37852740 Free article.
Retinal Manifestations in Spinocerebellar Ataxia Type 3.
Chorfi S, Place EM, Mallery RM, Huckfeldt RM. Chorfi S, et al. Among authors: huckfeldt rm. J Neuroophthalmol. 2024 Mar 1;44(1):e3-e5. doi: 10.1097/WNO.0000000000001759. Epub 2022 Dec 8. J Neuroophthalmol. 2024. PMID: 36729871 Free PMC article. No abstract available.
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
37 results