Graeme C. Black

Oxford Road
Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 156 publications

Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.

Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.

Journal: Ophthalmology science

Published: October 06, 2025

Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration.

Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Beware the midline scalp lump in a patient with retinal dystrophy.

Beware the midline scalp lump in a patient with retinal dystrophy.

Journal: Eye (London, England)

Published: July 12, 2025

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.

Journal: Genes

Published: July 04, 2025

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Journal: Clinical genetics

Published: June 26, 2025

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Journal: Nature communications

Published: June 03, 2025

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina.

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina.

Journal: medRxiv : the preprint server for health sciences

Published: May 02, 2025

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Journal: American journal of human genetics

Published: October 15, 2024

Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series.

Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series.

Journal: Eye (London, England)

Published: July 22, 2024

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Journal: Clinical genetics

Published: April 17, 2024

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.

Journal: European journal of human genetics : EJHG

Published: January 11, 2024

Enlarged Vestibular Aqueduct and Associated Inner Ear Malformations: Hearing Loss Prognostic Factors and Data Modeling from an International Cohort.

Enlarged Vestibular Aqueduct and Associated Inner Ear Malformations: Hearing Loss Prognostic Factors and Data Modeling from an International Cohort.

Journal: The journal of international advanced otology

Published: December 13, 2023

Showing 1-12 of 156

Last Updated: 09/26/2026