NANOG and CDX2 Pattern Distinct Subtypes of Human Mesoderm during Exit from Pluripotency
Mendjan, Sasha, Mascetti, Victoria L., Ortmann, Daniel, Ortiz, Mariaestela, Karjosukarso, Dyah W., Ng, Yifan, Moreau, Thomas, Pedersen, Roger A.
Published in Cell stem cell (04.09.2014)
Published in Cell stem cell (04.09.2014)
Get full text
Journal Article
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
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
Published in Cells (Basel, Switzerland) (29.03.2024)
Published in Cells (Basel, Switzerland) (29.03.2024)
Get full text
Journal Article
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
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.
Published in Molecular therapy (06.03.2024)
Published in Molecular therapy (06.03.2024)
Get full text
Journal Article
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
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
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
Get full text
Journal Article
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature
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
Published in Investigative ophthalmology & visual science (01.02.2020)
Published in Investigative ophthalmology & visual science (01.02.2020)
Get full text
Journal Article
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature
Karjosukarso, Dyah W, van Gestel, Sebastianus H C, Qu, Jieqiong, Kouwenhoven, Evelyn N, Duijkers, Lonneke, Garanto, Alejandro, Zhou, Huiqing, Collin, Rob W J
Published in Human molecular genetics (15.10.2018)
Published in Human molecular genetics (15.10.2018)
Get full text
Journal Article
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Karjosukarso, Dyah W, Cremers, Frans P M, van Nouhuys, C Erik, Collin, Rob W J
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
Get full text
Journal Article
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare IABCA4/I Variant in a Child with Early-Onset Stargardt Disease
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
Published in Cells (Basel, Switzerland) (01.04.2024)
Published in Cells (Basel, Switzerland) (01.04.2024)
Get full text
Journal Article