The Genetic and Clinical Features of <i>FOXL2</i>-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

by Cécile Méjécase, Chandni Nigam, Mariya Moosajee, John C. Bladen
Published 2021-03-01

Ocular Phenotype Associated with <i>DYRK1A</i> Variants

by Cécile Méjécase, Christopher M. Way, Nicholas Owen, Mariya Moosajee
Published 2021-02-01

Practical guide to genetic screening for inherited eye diseases

by Cécile Méjécase, Samantha Malka, Zeyu Guan, Amy Slater, Gavin Arno, Mariya Moosajee
Published 2020-09-01

Identification of a Novel Frameshift Variant in <i>MYF5</i> Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies

by Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena Schiff, Vijay Tailor, Mariya Moosajee
Published 2024-05-01

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

by Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak
Published 2021-01-01

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

by Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee
Published 2021-03-01

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

by Cécile Méjécase, Philippa Harding, Hajrah Sarkar, Jonathan Eintracht, Dulce Lima Cunha, Lyes Toualbi, Mariya Moosajee
Published 2020-12-01

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated...

by Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee
Published 2021-07-01

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

by Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle Audo
Published 2019-12-01

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

by Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2019-10-01

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

by Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Published 2018-07-01

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

by Said El Shamieh, Cécile Méjécase, Matteo Bertelli, Angélique Terray, Christelle Michiels, Christel Condroyer, Stéphane Fouquet, Maxime Sadoun, Emmanuelle Clérin, Binqian Liu, Thierry Léveillard, Olivier Goureau, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2017-10-01

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

by Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Published 2016-01-01

Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

by Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Published 2021-07-01