Colin A Johnson

18PUBLICATIONS
87CO-AUTHORS
Medical devicesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Molecular targets
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Publications (18)

|Sep 30, 2026
Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy.

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Feb 25, 2026
Regional nonsense constraint offers biological and clinical insights into genetic disease.

Alexander J M Blakes, Nicola Whiffin, Colin A Johnson

|Feb 10, 2026
A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

Mitra Kabir, Verity Hartill, Gist H Farr Iii

|May 28, 2025
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Manu Ahmed, Sydney Fischer, Karyn L Robert

|Apr 19, 2025
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.

Claire E L Smith, Andrew J Streets, Alice V R Lake

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Frequent Collaborators

3 joint publications

Katarzyna Szymanska

3 joint publications

Gabrielle Wheway

3 joint publications

James A Poulter

3 joint publications

Christopher Mark Watson