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Tim Hall

2PUBLICATIONS

8CO-AUTHORS

Gene mappingNeurogenetics

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Publications (2)

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|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

2 joint publications

James Fasham

2 joint publications

Alistair T Pagnamenta

2 joint publications

Emma L Baple

2 joint publications

Caroline F Wright

2 joint publications

Leigh Jackson

1 joint publications

Robin N Beaumont

1 joint publications

Sylvia Keigwin

1 joint publications

Meena Balasubramanian

Frequent Collaborators

2 joint publications

James Fasham

2 joint publications

Alistair T Pagnamenta

2 joint publications

Emma L Baple

2 joint publications

Caroline F Wright