Carmel Toomes

8PUBLICATIONS
178CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene mapping
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Publications (8)

|Jul 20, 2026
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.

|Mar 26, 2025
Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models.

Rita Ferla, Eugenio Pugni, Mariangela Lupo

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jun 07, 2023
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Samar Yahya, Christopher M Watson, Ian Carr

|Mar 19, 2023
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.

Benjamin McClinton, Laura A Crinnion, Martin McKibbin

|Jan 21, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin

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Frequent Collaborators

4 joint publications

Martin McKibbin

4 joint publications

Manir Ali

4 joint publications

Christopher M Watson

4 joint publications

Chris F Inglehearn