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Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Wen S, et al. Among authors: pennesi me. bioRxiv [Preprint]. 2023 Jan 3:2023.01.02.522522. doi: 10.1101/2023.01.02.522522. bioRxiv. 2023. PMID: 36789417 Free PMC article. Updated. Preprint.
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: pennesi me. 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.
Gene Editing for CEP290-Associated Retinal Degeneration.
Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Pierce EA, et al. Among authors: pennesi me. N Engl J Med. 2024 May 6. doi: 10.1056/NEJMoa2309915. Online ahead of print. N Engl J Med. 2024. PMID: 38709228
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: pennesi me. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12738. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623632
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: pennesi me. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
Maclaren RE, Lam BL, Fischer MD, Holz FG, Pennesi ME, Birch DG, Sankila EM, Meunier IA, Stepien KE, Sallum JMF, Li J, Yoon D, Panda S, Gow JA; NIGHT Study Group. Maclaren RE, et al. Among authors: pennesi me. Am J Ophthalmol. 2024 Feb 3;263:35-49. doi: 10.1016/j.ajo.2024.01.022. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38311152
165 results