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Page 1
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB, Brooks BP. Pfau M, et al. Among authors: cukras ca. Adv Exp Med Biol. 2023;1415:289-295. doi: 10.1007/978-3-031-27681-1_42. Adv Exp Med Biol. 2023. PMID: 37440047 Free PMC article.
The qMini assay identifies an overlooked class of splice variants.
Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. Guan B, et al. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. medRxiv. 2023. PMID: 38076877 Free PMC article. Preprint.
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B. Ullah E, et al. Among authors: cukras ca. JAMA Ophthalmol. 2024 Nov 1;142(11):1081-1086. doi: 10.1001/jamaophthalmol.2024.3836. JAMA Ophthalmol. 2024. PMID: 39325468
Oral Hypoxia-Inducible Factor 2α Inhibitor Belzutifan in Ocular von Hippel-Lindau Disease: Subgroup Analysis of the Single-Arm Phase 2 LITESPARK-004 Study.
Wiley HE, Srinivasan R, Maranchie JK, Chhablani J, Iversen ABB, Kruse A, Jonasch E, Gombos DS, Else T, Demirci H, Maughan BL, Hartnett ME, Coleman HR, Fu W, Perini RF, Liu Y, Linehan WM, Chew EY; LITESPARK-004 Investigator Group - Ocular VHL. Wiley HE, et al. Ophthalmology. 2024 Nov;131(11):1324-1332. doi: 10.1016/j.ophtha.2024.05.024. Epub 2024 Jun 6. Ophthalmology. 2024. PMID: 38849055 Clinical Trial.
Phase 2 Trial Evaluating Minocycline for Geographic Atrophy in Age-Related Macular Degeneration: A Nonrandomized Controlled Trial.
Keenan TDL, Bailey C, Abraham M, Orndahl C, Menezes S, Bellur S, Arunachalam T, Kangale-Whitney C, Srinivas S, Karamat A, Nittala M, Cunningham D, Jeffrey BG, Wiley HE, Thavikulwat AT, Sadda S, Cukras CA, Chew EY, Wong WT. Keenan TDL, et al. Among authors: cukras ca. JAMA Ophthalmol. 2024 Apr 1;142(4):345-355. doi: 10.1001/jamaophthalmol.2024.0118. JAMA Ophthalmol. 2024. PMID: 38483382 Clinical Trial.
74 results