Items where authors include "Watson, C.M."

Article

Topping, J., Chang, L., Nadat, F. et al. (17 more authors) (2024) Characterization of genetic landscape and novel inflammatory biomarkers in patients with adult-onset Still's disease. Arthritis & Rheumatology. ISSN 2326-5191

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

Durkie, M., Watson, C.M. orcid.org/0000-0003-2371-1844, Winship, P. et al. (10 more authors) (2023) The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease. Human Mutation, 2023. 5597005. ISSN 1059-7794

Best, S., Yu, J., Lord, J. orcid.org/0000-0002-0539-9343 et al. (16 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59. pp. 1151-1164. ISSN 0022-2593

Watson, C.M. orcid.org/0000-0003-2371-1844, Nadat, F., Ahmed, S. et al. (4 more authors) (2022) Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. Genes and Immunity, 23. pp. 66-72. ISSN 1466-4879