Morag E. Shanks

Oxford, ENG OX37LE, United Kingdom

Last Updated: 09/26/2026

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Found 34 publications

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

Journal: Genes
Published: April 24, 2026

OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa Variants.

OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa Variants.

Journal: Vision (Basel, Switzerland)
Published: February 14, 2026

Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

Journal: Genes
Published: October 31, 2025

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).

Journal: Ophthalmic genetics
Published: September 16, 2025

Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Journal: Genes
Published: July 31, 2025

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Journal: Ophthalmic genetics
Published: September 19, 2024

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.

Journal: Ophthalmic genetics
Published: September 04, 2024

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.

Journal: Biomolecules
Published: August 16, 2023

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

Journal: Genes
Published: April 19, 2023

MERTK missense variants in three patients with retinitis pigmentosa.

MERTK missense variants in three patients with retinitis pigmentosa.

Journal: Ophthalmic genetics
Published: August 29, 2022

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Journal: Genes
Published: July 05, 2022
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Last Updated: 09/26/2026