NANOG and CDX2 Pattern Distinct Subtypes of Human Mesoderm during Exit from Pluripotency von Mendjan, Sasha, Mascetti, Victoria L., Ortmann, Daniel, Ortiz, Mariaestela, Karjosukarso, Dyah W., Ng, Yifan, Moreau, Thomas, Pedersen, Roger A.

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Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease von Karjosukarso, Dyah W., Bukkems, Femke, Duijkers, Lonneke, Leijsten, Nico, Collin, Rob W.J.

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Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants von Karjosukarso, Dyah W., Bukkems, Femke, Duijkers, Lonneke, Leijsten, Nico, Hoyng, Carel B., Collin, Rob W.J.

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Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease von Karjosukarso, Dyah W., Bukkems, Femke, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Kiefmann, Julia, Sarlea, Andrei, Bervoets, Sander, Vázquez-Domínguez, Irene, Molday, Laurie L., Molday, Robert S., Netea, Mihai G., Hoyng, Carel B., Garanto, Alejandro, Collin, Rob W. J.

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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease von Suárez-Herrera, Nuria, Li, Catherina H Z, Leijsten, Nico, Karjosukarso, Dyah W, Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P M, Hoyng, Carel B, Garanto, Alejandro, Collin, Rob W J

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Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4 von Suárez-Herrera, Nuria, Riswick, Iris B., Vázquez-Domínguez, Irene, Duijkers, Lonneke, Karjosukarso, Dyah W., Piccolo, Davide, Bauwens, Miriam, De Baere, Elfride, Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.

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An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature von Karjosukarso, Dyah W, van Gestel, Sebastianus H C, Qu, Jieqiong, Kouwenhoven, Evelyn N, Duijkers, Lonneke, Garanto, Alejandro, Zhou, Huiqing, Collin, Rob W J

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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities von Weterman, Marian A J, Kuo, Molly, Kenter, Susan B, Gordillo, Sara, Karjosukarso, Dyah W, Takase, Ryuichi, Bronk, Marieke, Oprescu, Stephanie, van Ruissen, Fred, Witteveen, Ron J W, Bienfait, Henriette M E, Breuning, Martijn, Verhamme, Camiel, Hou, Ya-Ming, de Visser, Marianne, Antonellis, Anthony, Baas, Frank

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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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Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly von Karjosukarso, Dyah W, Cremers, Frans P M, van Nouhuys, C Erik, Collin, Rob W J

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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare IABCA4/I Variant in a Child with Early-Onset Stargardt Disease von Suárez-Herrera, Nuria, Li, Catherina H. Z, Leijsten, Nico, Karjosukarso, Dyah W, Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P. M, Hoyng, Carel B, Garanto, Alejandro, Collin, Rob W. J

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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare IABCA4/I Variant in a Child with Early-Onset Stargardt Disease von Suárez-Herrera, Nuria, Li, Catherina H. Z, Leijsten, Nico, Karjosukarso, Dyah W, Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P. M, Hoyng, Carel B, Garanto, Alejandro, Collin, Rob W. J

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Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR von Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel

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