Ocular Phenotype Associated with DYRK1A Variants

od Méjécase, Cécile, Way, Christopher M., Owen, Nicholas, Moosajee, Mariya
izdano v Genes (Basel) (2021)

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

od Méjécase, Cécile, Nigam, Chandni, Moosajee, Mariya, Bladen, John C.
izdano v Genes (Basel) (2021)

Practical guide to genetic screening for inherited eye diseases

od Méjécase, Cécile, Malka, Samantha, Guan, Zeyu, Slater, Amy, Arno, Gavin, Moosajee, Mariya
izdano v Ther Adv Ophthalmol (2020)

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

od Mahmood, Usman, Méjécase, Cécile, Ali, Syed M. A., Moosajee, Mariya, Kozak, Igor
izdano v Genes (Basel) (2021)

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

od Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
izdano v Biomed Res Int (2018)

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions

od Méjécase, Cécile, Harding, Philippa, Sarkar, Hajrah, Eintracht, Jonathan, Lima Cunha, Dulce, Toualbi, Lyes, Moosajee, Mariya
izdano v Stem Cell Res (2020)

Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6

od Harding, Philippa, Lima Cunha, Dulce, Méjécase, Cécile, Eintracht, Jonathan, Toualbi, Lyes, Sarkar, Hajrah, Moosajee, Mariya
izdano v Stem Cell Res (2021)

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

od Khateb, Samer, Nassisi, Marco, Bujakowska, Kinga M., Méjécase, Cécile, Condroyer, Christel, Antonio, Aline, Foussard, Marine, Démontant, Vanessa, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
izdano v JAMA Ophthalmol (2019)

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

od Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
izdano v Int J Mol Sci (2019)

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy

od El Shamieh, Said, Méjécase, Cécile, Bertelli, Matteo, Terray, Angélique, Michiels, Christelle, Condroyer, Christel, Fouquet, Stéphane, Sadoun, Maxime, Clérin, Emmanuelle, Liu, Binqian, Léveillard, Thierry, Goureau, Olivier, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
izdano v Genes (Basel) (2017)

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

od Nassisi, Marco, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Boyard, Fiona, Démontant, Vanessa, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Foussard, Marine, Méjécase, Cécile, Eandi, Chiara Maria, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
izdano v Int J Mol Sci (2018)

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

od Smirnov, Vasily M., Nassisi, Marco, Solis Hernandez, Cyntia, Méjécase, Cécile, El Shamieh, Said, Condroyer, Christel, Antonio, Aline, Meunier, Isabelle, Andrieu, Camille, Defoort-Dhellemmes, Sabine, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
izdano v JAMA Ophthalmol (2021)

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

od Méjécase, Cécile, Laurent-Coriat, Caroline, Mayer, Claudine, Poch, Olivier, Mohand-Saïd, Saddek, Prévot, Camille, Antonio, Aline, Boyard, Fiona, Condroyer, Christel, Michiels, Christelle, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean-Paul, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
izdano v PLoS One (2016)

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

od Solaguren-Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand-Saïd, Saddek, Condroyer, Christel, Lancelot, Marie-Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle, Zeitz, Christina
izdano v Clin Genet (2020)