Cecile Mejecase

London, ENG NW11AT, United Kingdom

Last Updated: 09/26/2026

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Found 33 publications

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.

Journal: International journal of molecular sciences
Published: June 29, 2026

Differentiation of Retinal Pigment Epithelium (RPE) and Retinal Organoids from Human iPSCs.

Differentiation of Retinal Pigment Epithelium (RPE) and Retinal Organoids from Human iPSCs.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: January 22, 2026

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Journal: Pharmaceuticals (Basel, Switzerland)
Published: May 23, 2025

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Journal: Ophthalmology science
Published: May 19, 2025

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Journal: Antioxidants (Basel, Switzerland)
Published: November 30, 2024

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.

Journal: Frontiers in cell and developmental biology
Published: October 14, 2024

Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.

Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.

Journal: Stem cell research
Published: July 08, 2024

Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.

Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.

Journal: Stem cell research
Published: May 20, 2024

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.

Journal: Genes
Published: April 28, 2024

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 17, 2023

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.

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.

Journal: Stem cell research
Published: May 04, 2021

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Journal: International journal of molecular sciences
Published: April 26, 2021
Showing 1-12 of 33

Last Updated: 09/26/2026