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Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Scott HA, et al. Among authors: huckfeldt rm. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004754. doi: 10.1101/mcs.a004754. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014858 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.
Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.
Aleman TS, Huckfeldt RM, Serrano LW, Pearson DJ, Vergilio GK, McCague S, Marshall KA, Ashtari M, Doan TM, Weigel-DiFranco CA, Biron BS, Wen XH, Chung DC, Liu E, Ferenchak K, Morgan JIW, Pierce EA, Eliott D, Bennett J, Comander J, Maguire AM. Aleman TS, et al. Among authors: huckfeldt rm. Ophthalmology. 2022 Oct;129(10):1177-1191. doi: 10.1016/j.ophtha.2022.06.006. Epub 2022 Jun 15. Ophthalmology. 2022. PMID: 35714735 Clinical Trial.
45 results