Items where authors include "Szymanska, K"

Article

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

Elpidorou, M, Poulter, JA orcid.org/0000-0003-2048-5693, Szymanska, K et al. (8 more authors) (2022) Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 30 (7). pp. 860-864. ISSN 1018-4813

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

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.

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, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

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

Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X

Lambacher, NJ, Bruel, A, van Dam, TJP et al. (21 more authors) (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18 (1). pp. 122-131. ISSN 1465-7392

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

Logan, CV, Lucke, B, Pottinger, C et al. (7 more authors) (2011) Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genetics, 43 (12). 1189 - 1192 . ISSN 1061-4036