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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 | 394 | 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 | 349 | 2012 |
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 | 277 | 2021 |
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 | 277 | 2020 |
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 | 252 | 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 | 243 | 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 | 223 | 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 | 219 | 2016 |
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 | 187 | 2019 |
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 | 187 | 2013 |
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 | 182 | 2010 |
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 | 182 | 2008 |
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 | 177 | 2018 |
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 | 176 | 2015 |
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic … M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ... Genetics in Medicine 21 (8), 1761-1771, 2019 | 161 | 2019 |
Splice-modulating oligonucleotide QR-110 restores CEP290 mRNA and function in human c. 2991+ 1655A> G LCA10 models K Dulla, M Aguila, A Lane, K Jovanovic, DA Parfitt, I Schulkens, HL Chan, ... Molecular Therapy-Nucleic Acids 12, 730-740, 2018 | 160 | 2018 |
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 | 158 | 2010 |
Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease S Albert, A Garanto, R Sangermano, M Khan, NM Bax, CB Hoyng, ... The American Journal of Human Genetics 102 (4), 517-527, 2018 | 147 | 2018 |
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