Cécile Méjécase (C Méjécase)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 13

Top Topics

Intellectual Disability

Neuroendocrine Tumors

Epidermal Growth Factor Receptor

Top Venues

Clinical genetics

Therapeutic advances in ophthalmology

This page only lists publications with an associated author ORCID identifier.

Publications

Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena R Schiff, Vijay K Tailor, Mariya Moosajee
Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies. Genes 15 (6) (2024)
Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena R Schiff, Vijay K Tailor, Mariya Moosajee
Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies. Genes 15 (6) (2024)
Paulina Ocieczek, Ngozi Oluonye, Cécile Méjécase, Elena R Schiff, Vijay K Tailor, Mariya Moosajee
Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies. Genes 15 (6) (2024)
Cécile Méjécase, Chandni Nigam, Mariya Moosajee, John C Bladen
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. Genes 12 (3) (2021)
Cécile Méjécase, Christopher M Way, Nicholas Owen, Mariya Moosajee
Ocular Phenotype Associated with DYRK1A Variants. Genes 12 (2) (2021)
Usman Mahmood, Cécile Méjécase, Syed M A Ali, Mariya Moosajee, Igor Kozak
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes 12 (2) (2021)
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
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. International journal of molecular sciences 22 (15) (2021)
Cécile Méjécase, Samantha Malka, Zeyu Guan, Amy Slater, Gavin Arno, Mariya Moosajee
Practical guide to genetic screening for inherited eye diseases. Therapeutic advances in ophthalmology 12 (2020)
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, Lisa Emmenegger, Elise Orhan, Marion Neuillé, Saddek Mohand-Saïd, Christel Condroyer, Marie-Elise Lancelot, Christelle Michiels, Vanessa Demontant, Aline Antonio, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, Thierry Léveillard, Eric A Pierce, Hélène Dollfus, José Alain Sahel, Shomi S Bhattacharya, Isabelle Audo, Christina Zeitz
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clinical genetics 99 (2) (2020)
Cécile Méjécase, S Mohand-Saïd, Said El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, José Alain Sahel, Isabelle Audo, Christina Zeitz
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clinical genetics 93 (3) (2019)
Cécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, Camille Andrieu, Said El Shamieh, Aline Antonio, Christel Condroyer, Fiona Boyard, Marine Foussard, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José Alain Sahel, Christina Zeitz, Isabelle Audo
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clinical genetics 95 (2) (2018)
Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F Marmor
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. BioMed research international 2018 (2018)
Isabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Said El Shamieh, José Alain Sahel, Christina Zeitz
MERTK mutation update in inherited retinal diseases. Human mutation 39 (7) (2018)