Lonneke Duijkers

<i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Rob W.J. Collin, Konstantinos Nikopoulos, Margo Dona et al. · Proceedings of the National Academy of Sciences · 2013 · 179 citations · Full text

Ocular Disease, Peripheral Retina, Exome Sequencing +17

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A&gt;G LCA10 Models

Kalyan Dulla, Mònica Aguilà, Amelia Lane et al. · Molecular Therapy — Nucleic Acids · 2018 · 162 citations · Full text

G Lca10 Models, Transcriptional Regulation, Natural Sciences +8

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers et al. · Journal of Medical Genetics · 2013 · 139 citations · Full text

<i>In vitro</i>and<i>in vivo</i>rescue of aberrant splicing in<i>CEP290</i>-associated LCA by antisense oligonucleotide delivery

Alejandro Garanto, Daniel C. Chung, Lonneke Duijkers et al. · Human Molecular Genetics · 2016 · 108 citations · Full text

In Vivo Gene Therapy, Aberrant Splicing, Rna Splicing +18

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Julio C. Corral-Serrano, Ideke J.C. Lamers, Jeroen van Reeuwijk et al. · Proceedings of the National Academy of Sciences · 2020 · 77 citations · Full text