| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis DM Panneman, RJ Hitti-Malin, LK Holtes, SE de Bruijn, J Reurink, ... Frontiers in cell and developmental biology 11, 1112270, 2023 | 15 | 2023 |
| Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis D Panneman, RJ Hitti-Malin, EGM Boonen, LK Holtes, MG Ramos, ... Investigative Ophthalmology & Visual Science 63 (7), 134–A0314-134–A0314, 2022 | 1 | 2022 |
| De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa M Quinodoz, K Rodenburg, Z Cvackova, K Kaminska, SE de Bruijn, ... medRxiv, 2025.01. 06.24317169, 2025 | | 2025 |
| Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel N Midgley, G Rebello, LK Holtes, R Ramesar, L Roberts Molecular Genetics & Genomic Medicine 12 (12), e70046, 2024 | | 2024 |
| Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms LK Holtes, SE de Bruijn, FPM Cremers, S Roosing Progress in Retinal and Eye Research, 101308, 2024 | | 2024 |
| Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach SE de Bruijn, DM Panneman, N Weisschuh, EL Cadena, EGM Boonen, ... Frontiers in Genetics 15, 1469686, 2024 | | 2024 |
