Items where authors include "Smith, C.E.L."

Article

Hany, U., Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (16 more authors) (2025) Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci. Human Mutation, 2025. 8942542. ISSN 1059-7794

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. orcid.org/0009-0008-3593-8409 et al. (16 more authors) (2025) Genetic Screening of a nonsyndromic amelogenesis imperfecta patient cohort using a custom smMIP reagent for selective enrichment of target loci. Human Mutation, 2025 (1). 8942542. ISSN 1059-7794

Smith, C.E.L., Streets, A.J. orcid.org/0000-0002-4328-044X, Lake, A.V.R. orcid.org/0000-0002-6341-8661 et al. (14 more authors) (2025) Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies. Communications Medicine, 5. 129. ISSN 2730-664X

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Smith, C.E.L. orcid.org/0000-0001-8320-5105, Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Smith, C.E.L., Whitehouse, L.L.E., Poulter, J.A. et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics, 29 (9). pp. 1417-1425. ISSN 0964-6906

Brookes, S.J., Barron, M.J., Smith, C.E.L. et al. (7 more authors) (2017) Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. Human Molecular Genetics, 26 (10). pp. 1863-1876. ISSN 0964-6906