Publications

Novel gene defects | Inherited Retinal Diseases | Candidate gene

My work leads to 23 publications, with 9 as first or co-first author.

2021

Smirnov V, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel J-A, Audo I, Zeitz C (2021) Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. JAMA Ophthalmol. 10.1001/jamaophthalmol.2020.6089.
Mahmood U*, Méjécase C*, Ali S M A, Moosajee M, Kozak I (2021) A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes (Basel). 10.3390/genes12020171 *Equal first authors
Harding P, Lima Cunha D, Méjécase C, Eintracht J, Toualbi L, Sarkar H, Moosajee M (2021) 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. Stem Cell Res. 10.1016/j.scr.2021.102184
Méjécase C*, Way CM*, Owen N, Moosajee M (2021) Ocular phenotype associated with DYRK1A variants. Genes (Basel). 10.3390/genes12020234 *Equal first authors
Méjécase C, Nigam C, Moosajee M, Bladen J C (2021) The genetic and clinical features of FOXL2-related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. Genes (Basel). 10.3390/genes12030364 *Equal first authors
Sarkar H, Méjécase C, Harding P, Eintracht J, Toualbi L, Lima Cunha D, Moosajee M (2021) 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. Stem Cell Res. 10.1016/j.scr.2021.102449
Zeitz C, Méjécase C, Michiels C, Condroyer C, […], Léveillard T, Mohand-Saïd S, Sahel J-A, Audo I (2021) Mutated CCDC51 coding for a mitochondrial protein, MITOK is a candidate gene defect for autosomal recessive rod-cone dystrophy. Int. J. Mol. Sci. 10.3390/ijms22157875

2020

Méjécase C, Kozak I, Moosajee M (2020) The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates. Am J Med Genet C Semin Med Genet. 10.1002/ajmg.c.31824
Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M (2020) Practical guide to genetic screening for inherited eye diseases. Ther Adv Ophthalmol. 10.1177/2515841420954592
Solaguren-Beascoa M*, Bujakowska K*, Méjécase C*, Emmenegger L, Orhan E, Neuillé M, Mohand-Said S, Condroyer C, Lancelot M-E, Michiels C, Démontant V, Antonio A, Letexier M, Saraiva J-P, Lonjou C, Carpentier W, Léveillard T, Pierce E A, Dollfus H, Sahel J-A, Bhattacharya S, Audo I, Zeitz C (2020) WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clin Genet. 10.1111/cge.13872 *Equal first authors

2019

Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva J-P, Sahel J-A, Zeitz C, Audo I (2019) Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clin Genet. 10.1111/cge.13453
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Said S, Sahel J-A, Zeitz C, Audo I (2019) Longitudinal clinical follow-up and genetic spectrum of patients with rod-cone dystrophy associated with mutations in PDE6A and PDE6B. JAMA Ophthalmol. 10.1001/jamaophthalmol.2018.6367
Nassisi M, Mohand-Saïd S, Andrieu C, Antonio A, Condroyer C, Méjécase C, Varin J, Wohlschlegel J, Dhaenens, Sahel J-A, Zeitz C, Audo I (2019) Prevalence of ABCA4 deep-intronic variants and related phenotype in an unsolved “one-hit” cohort with Stargardt disease. Int J Mol Sci. 10.3390/ijms20205053
Wohlschlegel J, Letellier C, Liu B, Méjécase C, Slembrouck-Brec A, Condroyer C, Michiels C, Sahel J-A, Zeitz C, Goureau O, Audo I (2019) Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. Stem Cell Res. 10.1016/j.scr.2019.101625
Nassisi M, Mohand-Saïd S, Andrieu C, Antonio A, Condroyer C, Méjécase C, Dhaenens CM, Sahel J-A, Zeitz C, Audo I (2019) Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease. Invest Ophthalmol Vis Sci. 10.1167/iovs.19-27100

2018

Zeitz C, Méjécase C, Stévenard M, Michiels C, Marmor M, Audo I (2018) A novel heterozygous missense mutation in GNAT1 leads to autosomal dominant Riggs-type of Congenital Stationary Night Blindness. BioMed Research International. 10.1155/2018/7694801
Audo I, Mohand-Said S, Boulanger-Scemama E, Xavier Zanlonghi, Condroyer C, Vanessa Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C (2018) MERTK mutations update in inherited retinal diseases. Hum Mutat. 10.1002/humu.23431
Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I (2018) Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. Int J Mol Sci. 10.3390/ijms19082196

2017

El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel J-A, Audo I, Zeitz C (2017) Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. Genes. 10.3390/genes8100277
Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva J-P, Sahel J-A, Audo I, Zeitz C (2017) A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clin Genet. 10.1111/cge.13171

2016

Audo I, Shamieh SE, Méjécase C, Michiels C, V Demontant V, Antonio A, Condroyer C, F Boyard F, Letexier M, J-P Saraiva J-P, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C (2016) ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. Clinical Genetics 10.1111/cge.12909
Méjécase C, Laurent-Coriat C, Mayer C, Olivier Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva J-P, Sahel JA, Audo I, Zeitz C (2016) Identification of a novel homozygous nonsense mutation confirms the implication of GNAT1 in rod-cone dystrophy. PLoS One. 10.1371/journal.pone.0168271

Photo of Moosajee's lab members front of the Francis Crick Institute, London, UK.

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