James Fasham
Gladstone Road
Exeter, ENG, United Kingdom
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 25 publications
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.
Journal: The Journal of general physiology
Published: February 27, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.
Journal: European journal of human genetics : EJHG
Published: January 31, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.
Journal: European journal of human genetics : EJHG
Published: January 30, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.
Journal: European journal of human genetics : EJHG
Published: January 30, 2026
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
Journal: American journal of human genetics
Published: July 28, 2025
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Journal: Annals of neurology
Published: March 16, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2025
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Journal: American journal of medical genetics. Part A
Published: October 11, 2023
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Journal: American journal of human genetics
Published: August 04, 2022
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Journal: Brain : a journal of neurology
Published: April 08, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 23, 2021
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
Journal: Frontiers in genetics
Published: October 29, 2021
Last Updated: 09/26/2026