Leigh Jackson

12PUBLICATIONS
36CO-AUTHORS
Development cooperationGene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (12)

|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.

|Apr 21, 2026
Revisiting penetrance in an era of genomic screening.

|Feb 06, 2026
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations.

Gareth Hawkes, Harrison I W Wright, Robin N Beaumont

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Frequent Collaborators

8 joint publications

Caroline F Wright

4 joint publications

Robin N Beaumont

4 joint publications

Michael Weedon

3 joint publications

James Fasham