Lisette Hetterschijt

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

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 255 citations · Full text

<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

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Radulfus WN Slijkerman, Christel Vaché, Margo Dona et al. · Molecular Therapy — Nucleic Acids · 2016 · 133 citations · Full text

Ocular Disease, Genetics, Molecular Biology +17

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco et al. · The American Journal of Human Genetics · 2012 · 127 citations · Full text

Developmental Biology, Genetics, Audiology +10

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

Sebiha Cevik, Anna A. W. M. Sanders, Erwin van Wijk et al. · PLoS Genetics · 2013 · 110 citations · Full text

Membrane Anchoring, Pathology, Cytoskeleton +18