Sanne Broekman

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

Kalyan Dulla, Ralph Slijkerman, Hester C. van Diepen et al. · Molecular Therapy · 2021 · 135 citations · Full text

Usherin defects lead to early-onset retinal dysfunction in zebrafish

Margo Dona, Ralph Slijkerman, Kimberly Lerner et al. · Experimental Eye Research · 2018 · 70 citations · Full text

Developmental Biology, Retina, Ophthalmology +3

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx et al. · Journal of Clinical Investigation · 2021 · 60 citations · Full text

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

Muriël Messchaert, Margo Dona, Sanne Broekman et al. · PLoS ONE · 2018 · 45 citations · Full text

Ocular Disease, Genetics, Molecular Genetics +19

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Maria Toms, Adam M. Dubis, Erik de Vrieze et al. · Human Molecular Genetics · 2020 · 41 citations · Full text

Ocular Disease, Retinal Examination, Clinical Endpoint +19