Erica G. M. Boonen

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes et al. · Frontiers in Cell and Developmental Biology · 2023 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman et al. · Human Mutation · 2022 · 21 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková et al. · medRxiv · 2025 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et al. · Nature Genetics · 2026 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16