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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2005 1
2007 2
2008 2
2009 2
2010 9
2011 7
2012 7
2013 12
2014 13
2015 16
2016 12
2017 12
2018 13
2019 24
2020 19
2021 29
2022 22
2023 12
2024 7

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202 results

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Page 1
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: audo i. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. PMID: 38405922 Free PMC article. Preprint.
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: audo i. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Heon E, et al. Among authors: audo i. Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21. Am J Ophthalmol. 2024. PMID: 38135239
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: audo i. 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. Among authors: audo i. 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.
Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F. Kay C, et al. Among authors: audo i. J Patient Rep Outcomes. 2023 Jul 19;7(1):74. doi: 10.1186/s41687-023-00610-x. J Patient Rep Outcomes. 2023. PMID: 37466759 Free PMC article.
202 results