Christopher K. Campbell

St Mary's Hospital, Health Innovation Manchester
Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 24 publications

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 2026

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications

Published: September 23, 2025

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Journal: European journal of human genetics : EJHG

Published: March 08, 2025

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Journal: American journal of medical genetics. Part A

Published: December 23, 2024

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.

Journal: JIMD reports

Published: December 17, 2024

Optimising the manufacture of perfluorocarbon nanodroplets through varying sonication parameters.

Optimising the manufacture of perfluorocarbon nanodroplets through varying sonication parameters.

Journal: Ultrasonics sonochemistry

Published: November 25, 2024

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Journal: Genome medicine

Published: November 21, 2024

pH-sensitive release of nitric oxide gas using peptide-graphene co-assembled hybrid nanosheets.

pH-sensitive release of nitric oxide gas using peptide-graphene co-assembled hybrid nanosheets.

Journal: Nitric oxide : biology and chemistry

Published: March 14, 2024

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Journal: medRxiv : the preprint server for health sciences

Published: September 25, 2023

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 29, 2023

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Journal: Orphanet journal of rare diseases

Published: January 31, 2023

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

Journal: Journal of medical genetics

Published: December 01, 2022

Showing 1-12 of 24

Last Updated: 09/26/2026