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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: oluonye n. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.
Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M. Wright GA, et al. Among authors: oluonye n. Ophthalmol Retina. 2020 Apr;4(4):433-445. doi: 10.1016/j.oret.2019.11.005. Epub 2019 Nov 13. Ophthalmol Retina. 2020. PMID: 31926949 Free PMC article.
Congenital cataract: a guide to genetic and clinical management.
Bell SJ, Oluonye N, Harding P, Moosajee M. Bell SJ, et al. Among authors: oluonye n. Ther Adv Rare Dis. 2020 Jul 22;1:2633004020938061. doi: 10.1177/2633004020938061. eCollection 2020 Jan-Dec. Ther Adv Rare Dis. 2020. PMID: 37180497 Free PMC article. Review.