Roepman, Ronald

Artificial intelligence: A powerful paradigm for scientific research

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A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics

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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

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DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2

Rezi, C. K., Aslanyan, M. G., Diwan, G. D., Cheng, T., Chamlali, M., Junger, K., Anvarian, Z., Lorentzen, E., Pauly, K. B., Afshar-Bahadori, Y., et al. (2024) · EMBO Reports

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Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation

Lako, M., Molina, M. M., Dorgau, B., Flood, E., Letteboer, S., Lorentzen, E., Coxhead, J., Smith, G., Roepman, R., Nagaraja-Grellscheid, S., et al. (2024) · Cell Death and Disease

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