Wright Cf

32PUBLICATIONS

186CO-AUTHORS

Gene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases

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Publications (32)

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|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

|Feb 24, 2025

Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.

Gareth Hawkes, Kartik Chundru, Leigh Jackson

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Frequent Collaborators

Robin N Beaumont

Leigh Jackson

Andrew R Wood

Anna Murray

Matthew E Hurles

Gareth Hawkes

Michael N Weedon

Hilary C Martin

Eugene J Gardner

Sarah Lindsay

Frequent Collaborators

Robin N Beaumont

Leigh Jackson

Andrew R Wood

Anna Murray