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Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: ben yacoub t. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Interface self-referenced dynamic full-field optical coherence tomography.
Monfort T, Azzollini S, Ben Yacoub T, Audo I, Reichman S, Grieve K, Thouvenin O. Monfort T, et al. Among authors: ben yacoub t. Biomed Opt Express. 2023 Jun 21;14(7):3491-3505. doi: 10.1364/BOE.488663. eCollection 2023 Jul 1. Biomed Opt Express. 2023. PMID: 37497503 Free PMC article.
Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9.
Ben Yacoub T, Letellier C, Wohlschlegel J, Condroyer C, Slembrouck-Brec A, Goureau O, Zeitz C, Audo I. Ben Yacoub T, et al. Stem Cell Res. 2023 Sep;71:103166. doi: 10.1016/j.scr.2023.103166. Epub 2023 Jul 14. Stem Cell Res. 2023. PMID: 37473460 Free article.
[CRISPR/Cas9: From research to therapeutic application].
Ben Yacoub T, Wohlschlegel J, Sahel JA, Zeitz C, Audo I. Ben Yacoub T, et al. J Fr Ophtalmol. 2023 Apr;46(4):398-407. doi: 10.1016/j.jfo.2022.10.008. Epub 2023 Feb 8. J Fr Ophtalmol. 2023. PMID: 36759244 Free article. Review. French.