Items where authors include "Best, S"

Article

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

Lange, KI, Best, S, Tsiropoulou, S et al. (3 more authors) (2022) Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. Human Molecular Genetics, 31 (10). ddab344. pp. 1574-1587. ISSN 0964-6906

Best, S, Inglehearn, CF orcid.org/0000-0002-5143-2562, Watson, CM orcid.org/0000-0003-2371-1844 et al. (3 more authors) (2022) Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190 (1). pp. 5-8. ISSN 1552-4868

Pickering, BS orcid.org/0000-0002-8474-9005, Best, S, Dufton, D et al. (3 more authors) (2021) Improving Observations of Precipitation Type at the Surface: A 5-Year Verification of a Radar-Derived Product from the United Kingdom’s Met Office. Journal of Hydrometeorology, 22 (6). pp. 1487-1505. ISSN 1525-755X

Elpidorou, M, Best, S, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (4 more authors) (2020) Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Journal of Medical Genetics. ISSN 0022-2593