Wright Cf

35PUBLICATIONS
206CO-AUTHORS
NeurogeneticsDisease surveillanceDevelopment cooperationGene mappingEpigenetics (incl. genome methylation and epigenomics)
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Publications (35)

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Jul 28, 2026
Reducing the diagnostic odyssey in rare disease: why screening is not the only answer.

|Jul 20, 2026
Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening.

|Jul 02, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

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Frequent Collaborators

8 joint publications

Leigh Jackson

8 joint publications

Robin N Beaumont

6 joint publications

Andrew R Wood

6 joint publications

Anna Murray