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Timothy S Hall

3PUBLICATIONS

8CO-AUTHORS

Gene mappingNeurogenetics

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Publications (3)

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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.

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Emma L Baple

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Caroline F Wright

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Leigh Jackson

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Alistair T Pagnamenta

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Robin N Beaumont

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Sylvia Keigwin

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Meena Balasubramanian

Frequent Collaborators

3 joint publications

James Fasham

3 joint publications

Emma L Baple

3 joint publications

Caroline F Wright

3 joint publications

Leigh Jackson