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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: hufnagel rb. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Cideciyan AV, et al. Among authors: hufnagel rb. Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30. Hum Gene Ther. 2013. PMID: 24067079 Free PMC article.
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. Kalaskar VK, et al. Among authors: hufnagel rb. Hum Mutat. 2020 Mar;41(3):678-695. doi: 10.1002/humu.23954. Epub 2019 Dec 9. Hum Mutat. 2020. PMID: 31816153 Free PMC article.
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Among authors: hufnagel rb. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Daich Varela M, et al. Among authors: hufnagel rb. Ophthalmology. 2020 Dec;127(12):1772-1774. doi: 10.1016/j.ophtha.2020.05.028. Epub 2020 May 17. Ophthalmology. 2020. PMID: 32434002 Free PMC article.
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Chertkof J, et al. Among authors: hufnagel rb. Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32787478 Free PMC article.
123 results