Items where authors include "Fasham, J."

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Fasham, J. orcid.org/0000-0002-7614-9202, Beaumont, R.N. orcid.org/0000-0003-0750-8248 et al. (7 more authors) (2026) Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort. European Journal of Human Genetics. pp. 1-9. ISSN 1018-4813

Fasham, J., Rankin, J., Schot, R. et al. (40 more authors) (2026) Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia. The American Journal of Human Genetics, 113 (1). pp. 221-233. ISSN 0002-9297