PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation von Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butcher, Rossano, van Essen, Max D., Sakami, Sanae, van Beersum, Sylvia E. C., Palczewski, Krzysztof, Cheetham, Michael E., Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, Collin, Rob W. J.

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Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina von Vázquez-Domínguez, Irene, Anido, Alejandro Allo, Duijkers, Lonneke, Hoppenbrouwers, Tamara, Hoogendoorn, Anita D M, Koster, Céline, Collin, Rob W J, Garanto, Alejandro

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Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature von Karjosukarso, Dyah W., Ali, Zaheer, Peters, Theo A., Zhang, Jia Qi Cheng, Hoogendoorn, Anita D. M., Garanto, Alejandro, van Wijk, Erwin, Jensen, Lasse D., Collin, Rob W. J.

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Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH von Schuurmans, Imke M.E., van Karnebeek, Clara D.M., Hoogendoorn, Anita D.M., Ribes, Antonia, Nadif Kasri, Nael, Garanto, Alejandro

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Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4 von Vázquez-Domínguez, Irene, Öktem, Mert, Winkelaar, Florian A., Nguyen, Thai Hoang, Hoogendoorn, Anita D.M., Roschi, Eleonora, Astuti, Galuh D.N., Timmermans, Raoul, Suárez-Herrera, Nuria, Bruno, Ilaria, Ruiz-Llombart, Albert, Brealey, Joseph, de Jong, Olivier G., Collin, Rob W.J., Mastrobattista, Enrico, Garanto, Alejandro

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Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis von Schuurmans, Imke M.E., van Karnebeek, Clara D.M., Hoogendoorn, Anita D.M., Nadif Kasri, Nael, Garanto, Alejandro

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The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner von Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro

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Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations von Andersson, Emma R., Chivukula, Indira V., Hankeova, Simona, Sjöqvist, Marika, Tsoi, Yat Long, Ramsköld, Daniel, Masek, Jan, Elmansuri, Aiman, Hoogendoorn, Anita, Vazquez, Elenae, Storvall, Helena, Netušilová, Julie, Huch, Meritxell, Fischler, Björn, Ellis, Ewa, Contreras, Adriana, Nemeth, Antal, Chien, Kenneth C., Clevers, Hans, Sandberg, Rickard, Bryja, Vitezslav, Lendahl, Urban

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The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner von Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro

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The Predicted Splicing Variant c.11+5GA in IRPE65/I Leads to a Reduction in mRNA Expression in a Cell-Specific Manner von Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C. W, Post, Merel A, van Oosten, Edwin M, O’Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D. M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P. M, Collin, Rob W. J, Roosing, Susanne, Garanto, Alejandro

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Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations von Andersson, Emma R, Chivukula, Indira V, Hankeova, Simona, Sjöqvist, Marika, Tsoi, Yat Long, Ramsköld, Daniel, Masek, Jan, Elmansuri, Aiman, Hoogendoorn, Anita, Vazquez, Elenae, Storvall, Helena, Netušilová, Julie, Huch, Meritxell, Fischler, Björn, Ellis, Ewa, Contreras, Adriana, Nemeth, Antal, Chien, Kenneth C, Clevers, Hans, Sandberg, Rickard, Bryja, Vitezslav, Lendahl, Urban

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Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism von Stroek, Kevin, Visser, Allerdien, van der Ploeg, Catharina P.B., Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C., Bosch, Annet M., van Trotsenburg, A.S. Paul, Boelen, Anita, Hoogendoorn, Mark, de Jonge, Robert

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Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model von Jansen, Heleen I, van Haeringen, Marije, Bouva, Marelle J, den Elzen, Wendy P J, Bruinstroop, Eveline, van der Ploeg, Catharina P B, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, Bosch, Annet M, de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita

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Revitalizing the Bloemfontein CBD: Prospects, Obstacles and Lost Opportunities von Hoogendoorn, Gijsbert, Visser, Gustav, Lenka, Molefi, Marais, Lochner, Van Rooyen, Deidre, Venter, Anita

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