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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: navarro j. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. Update in: NPJ Genom Med. 2024 Nov 8;9(1):58. doi: 10.1038/s41525-024-00439-3. PMID: 38405922 Free PMC article. Updated. 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: navarro j. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016/j.gim.2024.101081. Epub 2024 Jan 28. Genet Med. 2024. PMID: 38293907 Free article.
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, DiTroia S, O'Heir E, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: navarro j. NPJ Genom Med. 2024 Nov 8;9(1):58. doi: 10.1038/s41525-024-00439-3. NPJ Genom Med. 2024. PMID: 39516462 Free PMC article.
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.
Bianco L, Navarro J, Michiels C, Sangermano R, Condroyer C, Antonio A, Antropoli A, Andrieu C, Place EM, Pierce EA, El Shamieh S, Smirnov V, Kalatzis V, Mansard L, Roux AF, Bocquet B, Sahel JA, Meunier I, Bujakowska KM, Audo I, Zeitz C. Bianco L, et al. Among authors: navarro j. Genet Med. 2025 Jun;27(6):101418. doi: 10.1016/j.gim.2025.101418. Epub 2025 Mar 19. Genet Med. 2025. PMID: 40119724 Free article.
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Antropoli A, Bianco L, Zanlonghi X, Benadji A, Condroyer C, Antonio A, Navarro J, Dhaenens CM, Sahel JA, Zeitz C, Audo I. Antropoli A, et al. Among authors: navarro j. Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):7. doi: 10.1167/iovs.66.4.7. Invest Ophthalmol Vis Sci. 2025. PMID: 40172514 Free PMC article.
3,099 results