Mariya Moosajee

London, ENG EC1V2PD, United Kingdom

Last Updated: 09/26/2026

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Found 174 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

Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes.

Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes.

Journal: Eye (London, England)

Published: April 21, 2026

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

Journal: International journal of biological sciences

Published: February 06, 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

Feasibility of smartphone-based digital phenotyping to measure visual function and mental health outcomes in patients with inherited retinal diseases.

Feasibility of smartphone-based digital phenotyping to measure visual function and mental health outcomes in patients with inherited retinal diseases.

Journal: NPJ digital medicine

Published: January 07, 2026

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to CRB1: Implications for Clinical Trials.

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to CRB1: Implications for Clinical Trials.

Journal: Computational and structural biotechnology journal

Published: December 27, 2025

From stem cells to somites: Revealing genetic and exogenous factors of human embryogenesis.

From stem cells to somites: Revealing genetic and exogenous factors of human embryogenesis.

Journal: Stem cell reports

Published: November 24, 2025

Management of Charles Bonnet syndrome in routine eye care services.

Management of Charles Bonnet syndrome in routine eye care services.

Journal: Eye (London, England)

Published: November 21, 2025

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Journal: Investigative ophthalmology & visual science

Published: November 13, 2025

GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma.

GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma.

Journal: International journal of molecular sciences

Published: October 27, 2025

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Journal: NPJ genomic medicine

Published: September 30, 2025

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.

Journal: Investigative ophthalmology & visual science

Published: September 09, 2025

Showing 1-12 of 174

Last Updated: 09/26/2026