Rob W J Collin

Rob W J Collin

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Rob W J Collin

Publications by authors named "Rob W J Collin"

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Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases".

Genes (Basel) 2020 02 5;11(2). Epub 2020 Feb 5.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/genes11020169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074026PMC
February 2020

Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines.

Oncotarget 2020 Feb 4;11(5):573. Epub 2020 Feb 4.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.18632/oncotarget.27475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007293PMC
February 2020

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.

Genes (Basel) 2019 08 28;10(9). Epub 2019 Aug 28.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/genes10090654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770110PMC
August 2019

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic Variant c.4539+2001G>A in Stargardt Disease.

Genes (Basel) 2019 06 14;10(6). Epub 2019 Jun 14.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525GA Nijmegen, The Netherlands.

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https://www.mdpi.com/2073-4425/10/6/452
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http://dx.doi.org/10.3390/genes10060452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628380PMC
June 2019

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

Adv Exp Med Biol 2018 ;1074:83-89

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/978-3-319-75402-4_11
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http://dx.doi.org/10.1007/978-3-319-75402-4_11DOI Listing
May 2019

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Eur J Hum Genet 2018 12 4;26(12):1819-1823. Epub 2018 Sep 4.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0243-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244075PMC
December 2018

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Hum Mol Genet 2018 10;27(20):3519-3527

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1093/hmg/ddy244DOI Listing
October 2018

Non-syndromic retinitis pigmentosa.

Prog Retin Eye Res 2018 09 27;66:157-186. Epub 2018 Mar 27.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.005DOI Listing
September 2018

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.

Methods Mol Biol 2018 ;1715:61-78

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-7522-8_5DOI Listing
July 2018

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Am J Hum Genet 2018 04 8;102(4):517-527. Epub 2018 Mar 8.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985352PMC
April 2018

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Hum Mutat 2018 02 26;39(2):177-186. Epub 2017 Dec 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23371DOI Listing
February 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases.

Curr Opin Ophthalmol 2017 May;28(3):260-266

aDepartment of Human Genetics bDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1097/ICU.0000000000000363DOI Listing
May 2017

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 2016

Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.

Authors:
Rob W J Collin

Stem Cell Investig 2016 4;3:72. Epub 2016 Nov 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.21037/sci.2016.10.05DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104582PMC
November 2016

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Ophthalmology 2016 06 12;123(6):1375-85. Epub 2016 Mar 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.053DOI Listing
June 2016

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.

PLoS One 2015 4;10(5):e0126660. Epub 2015 May 4.

Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126660PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418656PMC
April 2016

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Adv Exp Med Biol 2016 ;854:517-24

Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences Radboud University Medical Center, Geert Grooteplein 10, 6525, Nijmegen, GA, The Netherlands.

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http://dx.doi.org/10.1007/978-3-319-17121-0_69DOI Listing
April 2016

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PLoS One 2015 16;10(3):e0119806. Epub 2015 Mar 16.

Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598PMC
January 2016

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies.

Prog Retin Eye Res 2015 Sep 1;48:137-59. Epub 2015 May 1.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2015.04.004DOI Listing
September 2015

Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.

Int J Mol Sci 2015 Mar 9;16(3):5285-98. Epub 2015 Mar 9.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/ijms16035285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394476PMC
March 2015

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712PMC
January 2015

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://www.molvis.org/molvis/v20/753/mv-v20-753.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043607PMC
September 2014

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

PLoS One 2013 6;8(11):e79369. Epub 2013 Nov 6.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands ; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079369PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269PMC
August 2014

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

JAMA Ophthalmol 2014 Aug;132(8):1002-4

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.983DOI Listing
August 2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Cold Spring Harb Perspect Med 2014 Jun 17;4(8). Epub 2014 Jun 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/cshperspect.a017137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109577PMC
June 2014

Prenylation defects in inherited retinal diseases.

J Med Genet 2014 Mar 8;51(3):143-51. Epub 2014 Jan 8.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2013-102138DOI Listing
March 2014

The molecular basis of retinal dystrophies in pakistan.

Genes (Basel) 2014 Mar 11;5(1):176-95. Epub 2014 Mar 11.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan.

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http://dx.doi.org/10.3390/genes5010176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978518PMC
March 2014

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2013 Dec 29;120(12):2697-2705. Epub 2013 Sep 29.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.07.052DOI Listing
December 2013

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Invest Ophthalmol Vis Sci 2013 Jul 12;54(7):4683-90. Epub 2013 Jul 12.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.12-11439DOI Listing
July 2013

Identification and analysis of inherited retinal disease genes.

Methods Mol Biol 2013 ;935:3-23

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-62703-080-9_1DOI Listing
April 2013

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

PLoS One 2012 21;7(8):e43251. Epub 2012 Aug 21.

Berman-Gund Laboratory for the Study of Retinal Degenerations, Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3424119PMC
January 2013

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Mol Vis 2012 4;18:2447-53. Epub 2012 Oct 4.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472923PMC
January 2013

The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy.

Adv Exp Med Biol 2012 ;723:345-51

The Rotterdam Eye Hospital, 70030, 3000 LM, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4614-0631-0_45DOI Listing
April 2012

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2011 Jul 18;118(7):1444-8. Epub 2011 Feb 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.ophtha.2010.10.047DOI Listing
July 2011

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. Epub 2011 Jul 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-7128DOI Listing
July 2011

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

Audiol Neurootol 2011 26;16(2):93-105. Epub 2010 Jun 26.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000313282DOI Listing
April 2011

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Am J Hum Genet 2010 May 15;86(5):783-8. Epub 2010 Apr 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869006PMC
May 2010

Promises and challenges of genetic therapy for blindness.

Lancet 2009 Nov 23;374(9701):1569-70. Epub 2009 Oct 23.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(09)61869-9DOI Listing
November 2009

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

Audiol Neurootol 2009 15;14(5):303-7. Epub 2009 Apr 15.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, NL-6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000212109DOI Listing
October 2009

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

Ann Otol Rhinol Laryngol 2009 May;118(5):382-90

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940911800511DOI Listing
May 2009

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Ann Otol Rhinol Laryngol 2009 Apr;118(4):313-20

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940911800413DOI Listing
April 2009

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Eur J Hum Genet 2008 Dec 25;16(12):1430-6. Epub 2008 Jun 25.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.110DOI Listing
December 2008

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Arch Otolaryngol Head Neck Surg 2008 Mar;134(3):294-300

Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/archotol.134.3.294DOI Listing
March 2008