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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: hufnagel rb. 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. Among authors: hufnagel rb. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. medRxiv. 2023. PMID: 38076877 Free PMC article. Preprint.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S. Huryn LA, et al. Among authors: hufnagel rb. Ophthalmology. 2023 Apr;130(4):423-432. doi: 10.1016/j.ophtha.2022.10.026. Epub 2022 Nov 2. Ophthalmology. 2023. PMID: 36332842 Free PMC article.
132 results