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Rob Collin
Rob Collin
Associate Professor, Radboudumc
Dirección de correo verificada de radboudumc.nl
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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
7302018
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
3792010
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
3282012
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
2482010
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
2302009
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
2222020
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
2162012
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
2112021
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
2052016
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
1732013
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
1732010
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
1702008
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
1692019
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
1662015
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
1612018
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
1562010
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
1412019
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
1392011
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
1362013
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
1342018
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Artículos 1–20