Items where authors include "Wheway, G"

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

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

Johnson, C orcid.org/0000-0002-2979-8234, Szymanska, K orcid.org/0000-0001-7736-5225, Logan, C et al. (4 more authors) (2022) Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1. eLife, 11. e57593. ISSN 2050-084X

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12). pp. 2041-2051. ISSN 1098-3600

van Dam, TJP, Kennedy, J, van der Lee, R et al. (45 more authors) (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PloS one, 14 (5). ARTN: e0216705.

Abdelhamed, ZA, Abdelmottaleb, DI, El-Asrag, ME et al. (5 more authors) (2019) The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. Scientific Reports, 9. 5446. ISSN 2045-2322

Buskin, A, Zhu, L, Chichagova, V et al. (39 more authors) (2018) Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9. 4234.

Hartill, V, Szymanska, K orcid.org/0000-0001-7736-5225, Malik Sharif, S et al. (2 more authors) (2017) Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances. Frontiers in Pediatrics, 5. 244. ISSN 2296-2360

Slaats, GG, Wheway, G, Foletto, V et al. (9 more authors) (2015) Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. Journal of Cell Science, 128 (24). pp. 4550-4559. ISSN 0021-9533

Wheway, G, Schmidts, M, Mans, DA et al. (75 more authors) (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17 (8). pp. 1074-1087. ISSN 1465-7392

Abdelhamed, ZA, Natarajan, S, Wheway, G et al. (4 more authors) (2015) The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Disease models & mechanisms, 8 (6). 527 - 541. ISSN 1754-8403

Conference or Workshop Item

Wheway, G, Legebeke, J, Carr, SB et al. (21 more authors) (2020) Primary ciliary dyskinesia and non-CF bronchiectasis in the 100,000 Genomes Project. In: 2020 ERS International Congress, 06-09 Sep 2020, Online.