Gavin Arno

City Road
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 185 publications

XXYLT1 and Mendelian Retinal Dystrophy.

XXYLT1 and Mendelian Retinal Dystrophy.

Journal: JAMA ophthalmology

Published: July 30, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 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

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Journal: Investigative ophthalmology & visual science

Published: March 11, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

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

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 08, 2025

Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.

Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.

Journal: Investigative ophthalmology & visual science

Published: August 29, 2025

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Journal: American journal of human genetics

Published: August 13, 2025

Showing 1-12 of 185

Last Updated: 09/26/2026