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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: yang p. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
Vitelliform maculopathy in MELAS syndrome.
Jahrig C, Ku CA, Marra M, Pennesi ME, Yang P. Jahrig C, et al. Among authors: yang p. Am J Ophthalmol Case Rep. 2023 Apr 6;30:101842. doi: 10.1016/j.ajoc.2023.101842. eCollection 2023 Jun. Am J Ophthalmol Case Rep. 2023. PMID: 37096132 Free PMC article.
Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
Wongchaisuwat N, Amato A, Lamborn AE, Yang P, Everett L, Pennesi ME. Wongchaisuwat N, et al. Among authors: yang p. Saudi J Ophthalmol. 2023 Oct 24;37(4):276-286. doi: 10.4103/sjopt.sjopt_168_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155670 Free PMC article.
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Among authors: yang p. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Wongchaisuwat N, Wang J, Yang P, Everett L, Gregor A, Sahel JA, Nischal KK, Pennesi ME, Gillingham MB, Jia Y. Wongchaisuwat N, et al. Among authors: yang p. Am J Ophthalmol Case Rep. 2023 Nov 20;32:101958. doi: 10.1016/j.ajoc.2023.101958. eCollection 2023 Dec. Am J Ophthalmol Case Rep. 2023. PMID: 38161518 Free PMC article.
RNA-based therapies in inherited retinal diseases.
Girach A, Audo I, Birch DG, Huckfeldt RM, Lam BL, Leroy BP, Michaelides M, Russell SR, Sallum JMF, Stingl K, Tsang SH, Yang P. Girach A, et al. Among authors: yang p. Ther Adv Ophthalmol. 2022 Nov 4;14:25158414221134602. doi: 10.1177/25158414221134602. eCollection 2022 Jan-Dec. Ther Adv Ophthalmol. 2022. PMID: 36388727 Free PMC article. Review.
Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.
Pennesi ME, Yang P, Birch DG, Weng CY, Moore AT, Iannaccone A, Comander JI, Jayasundera T, Chulay J; XLRS-001 Study Group. Pennesi ME, et al. Among authors: yang p. Ophthalmol Retina. 2022 Dec;6(12):1130-1144. doi: 10.1016/j.oret.2022.06.013. Epub 2022 Jun 30. Ophthalmol Retina. 2022. PMID: 35781068 Clinical Trial.
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