James Fasham

14PUBLICATIONS
55CO-AUTHORS
NeurogeneticsGene mappingEpigenetics (incl. genome methylation and epigenomics)Cellular nervous systemNeurology and neuromuscular diseases
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Publications (14)

|Sep 18, 2026
Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.

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

|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.

|Feb 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Lettie E Rawlins, Philip H Iffland, John Page

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Frequent Collaborators

10 joint publications

Emma L Baple

6 joint publications

Caroline F Wright

4 joint publications

Timothy S Hall

4 joint publications

Leigh Jackson