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Deep learning model for automatic differentiation of EMAP from AMD in macular atrophy.
Sci Rep. 2023 Nov 21;13(1):20354. doi: 10.1038/s41598-023-47854-7.
Sci Rep. 2023.
PMID: 37990107
Free PMC article.
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V.
Sanjurjo-Soriano C, et al.
HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12.
HGG Adv. 2023.
PMID: 37654703
Free PMC article.
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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V.
Bocquet B, et al.
JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426.
JCI Insight. 2023.
PMID: 37768732
Free PMC article.
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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.
Panneman DM, et al.
Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023.
Front Cell Dev Biol. 2023.
PMID: 36819107
Free PMC article.
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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: meunier ia.
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
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