Items where authors include "Smithson, S.F."

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Hashim, M. orcid.org/0000-0003-3395-8453, Kennedy, J. et al. (4 more authors) (2025) A cryptic CBFB deletion–inversion expands the mutational spectrum of variants associated with cleidocranial dysplasia. Clinical Genetics. ISSN 0009-9163

Pagnamenta, A.T., Yu, J., Evans, J. et al. (7 more authors) (2023) Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics, 60 (5). pp. 505-510. ISSN 0022-2593

Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X

Edgerley, K., Barnicoat, A., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (13 more authors) (2021) AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination. American Journal of Medical Genetics Part A, 185 (4). pp. 1228-1235. ISSN 1552-4825

Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825