Graeme Black

Professor of Genetics and Ophthalmology

The University of Manchester

United Kingdom

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About

Professor Graeme Black is a leading academic in the field of Genetics and Ophthalmology at the University of Manchester, UK. His research focuses on retinal dystrophy, gene therapy, and the genetic underpinnings of albinism, as well as the clinical interpretation of genetic variants. He has contributed significantly to understanding hereditary eye diseases and has published numerous articles addressing real-world outcomes of gene therapies and the necessity for genomic testing in rare disorders.

Articles (13)

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2025

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2024

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2022

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2021

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2021

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2021

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2021

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2021

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2021

Collaborators (17)

Panos Sergouniotis

Senior Lecturer & Honorary Consultant

The University of Manchester

UNITED KINGDOM

Graeme Black

Research Interests

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Articles (13)

Beware the midline scalp lump in a patient with retinal dystrophy

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

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

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.

Improving the clinical interpretation of missense variants in X linked genes using structural analysis.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak.

Collaborators (17)

Panos Sergouniotis

Anthony Khawaja

Mark Simcoe

Katie M Williams

Juho Wedenoja

Jessica Cooke Bailey

Sir Peng Tee Khaw

Kari Pulkki

Petra Liskova

Stefan Meyer

Benoit Arveiler

Andrew Dick

Max Yates

Jamie Ellingford

Paul Lichter

Robyn Tapp

Katri Pylkäs

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