Items where authors include "Roosing, S"

Article

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

Mc Clinton, B, Corradi, Z, McKibbin, M et al. (10 more authors) (2023) Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes, 14 (1). 191. ISSN 2073-4425

de Bruijn, SE, Fiorentino, A, Ottaviani, D et al. (34 more authors) (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. The American Journal of Human Genetics, 107 (5). pp. 802-814. ISSN 0002-9297

Astuti, G, van den Born, L, Khan, M et al. (14 more authors) (2018) Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes, 9 (1). p. 21. ISSN 2073-4425

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

Roosing, S, Hofree, M, Kim, S et al. (42 more authors) (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife, 4. e06602. ISSN 2050-084X

Preprint

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint]