| Non-syndromic retinitis pigmentosa SK Verbakel, RAC van Huet, CJF Boon, AI den Hollander, RWJ Collin, ... Progress in retinal and eye research 66, 157-186, 2018 | 659 | 2018 |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 373 | 2010 |
| Next‐generation genetic testing for retinitis pigmentosa K Neveling, RWJ Collin, C Gilissen, RAC Van Huet, L Visser, MP Kwint, ... Human mutation 33 (6), 963-972, 2012 | 322 | 2012 |
| Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ... The American Journal of Human Genetics 86 (2), 240-247, 2010 | 246 | 2010 |
| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, ... The American journal of human genetics 85 (2), 240-247, 2009 | 224 | 2009 |
| Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290 RWJ Collin, AI Den Hollander, SD Van Der Velde-visser, J Bennicelli, ... Molecular Therapy-Nucleic Acids 1, 2012 | 210 | 2012 |
| In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery A Garanto, DC Chung, L Duijkers, JC Corral-Serrano, M Messchaert, ... Human molecular genetics 25 (12), 2552-2563, 2016 | 199 | 2016 |
| Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations FPM Cremers, W Lee, RWJ Collin, R Allikmets Progress in retinal and eye research 79, 100861, 2020 | 188 | 2020 |
| Delivery of oligonucleotide‐based therapeutics: challenges and opportunities SM Hammond, A Aartsma‐Rus, S Alves, SE Borgos, RAM Buijsen, ... EMBO Molecular Medicine 13 (4), e13243, 2021 | 184 | 2021 |
| Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa RWJ Collin, KW Littink, BJ Klevering, LI van den Born, RK Koenekoop, ... The American Journal of Human Genetics 83 (5), 594-603, 2008 | 169 | 2008 |
| Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP K Nikopoulos, H Venselaar, RWJ Collin, R Riveiro‐Alvarez, FN Boonstra, ... Human mutation 31 (6), 656-666, 2010 | 160 | 2010 |
| ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature RWJ Collin, K Nikopoulos, M Dona, C Gilissen, A Hoischen, FN Boonstra, ... Proceedings of the National Academy of Sciences 110 (24), 9856-9861, 2013 | 157 | 2013 |
| Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome KM Bujakowska, Q Zhang, AM Siemiatkowska, Q Liu, E Place, MJ Falk, ... Human molecular genetics 24 (1), 230-242, 2015 | 156 | 2015 |
| A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype KW Littink, JWR Pott, RWJ Collin, HY Kroes, JBGM Verheij, EAW Blokland, ... Investigative ophthalmology & visual science 51 (7), 3646-3652, 2010 | 156 | 2010 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ... Genetics in Medicine 21 (8), 1751-1760, 2019 | 154 | 2019 |
| ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease R Sangermano, M Khan, SS Cornelis, V Richelle, S Albert, A Garanto, ... Genome research 28 (1), 100-110, 2018 | 146 | 2018 |
| IQCB1 mutations in patients with leber congenital amaurosis A Estrada-Cuzcano, RK Koenekoop, F Coppieters, S Kohl, I Lopez, ... Investigative ophthalmology & visual science 52 (2), 834-839, 2011 | 134 | 2011 |
| Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis A Garanto, SEC van Beersum, TA Peters, R Roepman, FPM Cremers, ... PLoS One 8 (11), e79369, 2013 | 132 | 2013 |
| Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa H Wang, AI den Hollander, Y Moayedi, A Abulimiti, Y Li, RWJ Collin, ... The American Journal of Human Genetics 84 (3), 380-387, 2009 | 131 | 2009 |
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 RWJ Collin, E Kalay, M Tariq, T Peters, B van der Zwaag, H Venselaar, ... The American Journal of Human Genetics 82 (1), 125-138, 2008 | 128 | 2008 |
