Items where authors include "Inglehearn, C."

Article

Sun, D., Henderson, R.H., Clement, E. et al. (7 more authors) (2026) Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR. Journal of Medical Genetics, 63 (3). pp. 187-196. ISSN 0022-2593

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

Conference abstract

Best, S., Lord, J., Roche, M. et al. (10 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project. [Conference abstract]