James Fasham

12PUBLICATIONS

35CO-AUTHORS

Gene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Cellular nervous systemNeurology and neuromuscular diseases

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Publications (12)

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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.

|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

|Mar 04, 2024

Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna

|Jul 17, 2023

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

James Fasham, Antje K Huebner, Lutz Liebmann

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Frequent Collaborators

Emma L Baple

Caroline F Wright

Timothy S Hall

Leigh Jackson

Alistair T Pagnamenta

Robin N Beaumont

Siying Lin

Barry A Chioza

Andrew H Crosby

Joseph S Leslie

Frequent Collaborators

Emma L Baple

Caroline F Wright

Timothy S Hall

Leigh Jackson