Publications by authors named "Rob W Collin"

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Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Rob Wj Collin

JCI Insight· May 2023

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Applications of antisense oligonucleotides for the treatment of inherited retinal diseases.
Rob W J Collin, Alejandro Garanto

Curr Opin Ophthalmol· May 2017

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Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Radulfus Wn Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Rob Wj Collin

Mol Ther Nucleic Acids· November 2016

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Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Galuh D N Astuti, Gavin Arno, Sarah Hull, Laurence Pierrache, Hanka Venselaar, Rob W J Collin

Invest Ophthalmol Vis Sci· November 2016

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Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.
Rob W J Collin

Stem Cell Investig· November 2016

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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz, Rob W J Collin

Eur J Hum Genet· July 2016

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Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
Riccardo Sangermano, Nathalie M Bax, Miriam Bauwens, L Ingeborgh van den Born, Elfride De Baere, Rob W J Collin

Ophthalmology· June 2016

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In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Alejandro Garanto, Daniel C Chung, Lonneke Duijkers, Julio C Corral-Serrano, Muriël Messchaert, Rob W J Collin

Hum Mol Genet· June 2016

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Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.
Dina F Ahram, Sinisa D Grozdanic, Helga Kecova, Arjen Henkes, Rob W J Collin

PLoS One· April 2016

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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
Ramon A C van Huet, Laurence H M Pierrache, Magda A Meester-Smoor, Caroline C W Klaver, L Ingeborgh van den Born, Rob W J Collin

Mol Vis· April 2016

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Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.
Xavier Gerard, Alejandro Garanto, Jean-Michel Rozet, Rob W J Collin

Adv Exp Med Biol· April 2016

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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Rob W J Collin

PLoS One· January 2016

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A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
Kristof Van Schil, B Jeroen Klevering, Bart P Leroy, Jan Willem R Pott, Dikla Bandah-Rozenfeld, Rob W J Collin

Invest Ophthalmol Vis Sci· November 2015

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Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
Thomas Chassine, Béatrice Bocquet, Vincent Daien, Almudena Avila-Fernandez, Carmen Ayuso, Rob Wj Collin

Br J Ophthalmol· October 2015

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The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies.
Ralph W N Slijkerman, Fei Song, Galuh D N Astuti, Martijn A Huynen, Erwin van Wijk, Rob W J Collin

Prog Retin Eye Res· September 2015

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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Almudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, Maria Isabel Lopez-Molina, Laura Campello, Rob W J Collin

Hum Mol Genet· July 2015

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Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.
Alejandro Garanto, Lonneke Duijkers, Rob W J Collin

Int J Mol Sci· March 2015

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Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
Ramon A C van Huet, Anna M Siemiatkowska, Riza K Özgül, Didem Yücel, Carel B Hoyng, Rob W J Collin

Acta Ophthalmol· February 2015

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Rob W J Collin

Hum Mol Genet· January 2015

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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Galuh D N Astuti, Vincent Sun, Miriam Bauwens, Ditta Zobor, Bart P Leroy, Rob W J Collin

Mol Genet Genomic Med· January 2015

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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Anna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, Mette Bertelsen, Ditta Zobor, Rob W J Collin

Mol Vis· September 2014

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Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, F Nienke Boonstra, Frans C C Riemslag, Rob W J Collin

JAMA Ophthalmol· August 2014

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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, Yar Muhammad Khan, Maleeha Azam, Rob W J Collin

J Med Genet· July 2014

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Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.
Anna M Siemiatkowska, Rob W J Collin, Anneke I den Hollander, Frans P M Cremers

Cold Spring Harb Perspect Med· June 2014

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IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
Ramon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, Caroline C W Klaver, Carel B Hoyng

Invest Ophthalmol Vis Sci· May 2014

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