Penny Clouston

Oxford, ENG OX37LE, United Kingdom

Last Updated: 09/26/2026

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Found 43 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

Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene.

Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene.

Journal: Parkinsonism & related disorders

Published: February 07, 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

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

Journal: Ophthalmic genetics

Published: January 26, 2024

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

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Journal: Nature communications

Published: October 31, 2022

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Last Updated: 09/26/2026