Articles with public access mandates - Rob CollinLearn more
Not available anywhere: 5
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype
KW Littink, LI van den Born, RK Koenekoop, RWJ Collin, MN Zonneveld, ...
Ophthalmology 117 (10), 2026-2033. e7, 2010
Mandates: Canadian Institutes of Health Research
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
KM Nishiguchi, A Avila-Fernandez, RAC Van Huet, M Corton, ...
Ophthalmology 121 (8), 1620-1627, 2014
Mandates: Swiss National Science Foundation, Government of Spain
Applications of antisense oligonucleotides for the treatment of inherited retinal diseases
RWJ Collin, A Garanto
Current Opinion in Ophthalmology 28 (3), 260-266, 2017
Mandates: Netherlands Organisation for Scientific Research
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
T Chassine, B Bocquet, V Daien, A Avila-Fernandez, C Ayuso, RWJ Collin, ...
British Journal of Ophthalmology 99 (10), 1360-1365, 2015
Mandates: Government of Spain
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
N Suárez-Herrera, IB Riswick, I Vázquez-Domínguez, L Duijkers, ...
Molecular Therapy 32 (3), 837-851, 2024
Mandates: Wellcome Trust, European Commission
Available somewhere: 66
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
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
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
Mandates: US National Institutes of Health, European Commission
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
Mandates: Research Foundation (Flanders), Canadian Institutes of Health Research …
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
Mandates: Danish Council for Independent Research, National Institute of Health and …
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
Mandates: US National Institutes of Health, Netherlands Organisation for Scientific …
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
Mandates: Swiss National Science Foundation
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
Mandates: Research Foundation (Flanders), Netherlands Organisation for Scientific …
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
Mandates: Fonds de recherche du Québec - Santé
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
Mandates: US National Institutes of Health
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
Mandates: European Commission
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
Mandates: Research Foundation (Flanders), National Institute for Health Research, UK
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
Mandates: Wellcome Trust
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
Mandates: Research Foundation (Flanders), Canadian Institutes of Health Research …
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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