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Page 1
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: mejecase c. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: mejecase c. Int J Mol Sci. 2021 Jul 23;22(15):7875. doi: 10.3390/ijms22157875. Int J Mol Sci. 2021. PMID: 34360642 Free PMC article.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Sarkar H, Méjécase C, Harding P, Eintracht J, Toualbi L, Cunha DL, Moosajee M. Sarkar H, et al. Among authors: mejecase c. Stem Cell Res. 2021 Jul;54:102449. doi: 10.1016/j.scr.2021.102449. Epub 2021 Jun 28. Stem Cell Res. 2021. PMID: 34216980 Free PMC article.
Ocular Phenotype Associated with DYRK1A Variants.
Méjécase C, Way CM, Owen N, Moosajee M. Méjécase C, et al. Genes (Basel). 2021 Feb 5;12(2):234. doi: 10.3390/genes12020234. Genes (Basel). 2021. PMID: 33562844 Free PMC article.
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Smirnov VM, et al. Among authors: mejecase c. JAMA Ophthalmol. 2021 Mar 1;139(3):278-291. doi: 10.1001/jamaophthalmol.2020.6089. JAMA Ophthalmol. 2021. PMID: 33507216 Free PMC article.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C. Solaguren-Beascoa M, et al. Among authors: mejecase c. Clin Genet. 2021 Feb;99(2):298-302. doi: 10.1111/cge.13872. Epub 2020 Nov 9. Clin Genet. 2021. PMID: 33124039 Free PMC article.
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