Rob Collin
Rob Collin
Associate Professor, Radboudumc
Verified email at
Cited by
Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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