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Biochemistry and Molecular Biology February 2020

Modeling ZNF408 -Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature

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Dyah W. Karjosukarso; Zaheer Ali; Theo A. Peters; Jia Qi Cheng Zhang; Anita D M. Hoogendoorn; Alejandro Garanto; Erwin van Wijk; Lasse D. Jensen; Rob W J. Collin
TAGS: familial exudative vitreoretinopathies, retinal vasculature, zebrafish, retinal vessels
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):39. doi: https://doi.org/10.1167/iovs.61.2.39

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The shorter the better?: Assessing novel therapeutic strategies for CRB1 -associated retinal disease

Alex Garanto; Anita Hoogendoorn; Joep J J Lurvink; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3389. doi:

ARVO Annual Meeting Abstract July 2019

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Rob W J Collin; Mubeen Khan; Riccardo Sangermano; Sarah Naessens; Miriam Bauwens; Carel C B Hoyng; Frauke Coppieters; Silvia Albert; Michael E Cheetham; Elfride De Baere; Frans P Cremers; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3401. doi:

ARVO Annual Meeting Abstract July 2019

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens; Rob W J Collin; Frauke Coppieters; Miriam Bauwens; Lonneke Duijkers; Irina Balikova; Bart P Leroy; Elfride De Baere; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4950. doi:

ARVO Annual Meeting Abstract July 2019

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377. doi:

Genetics May 2019

Extending the Spectrum of EYS -Associated Retinal Disease to Macular Dystrophy

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Laurence H. M. Pierrache; Muriël Messchaert; Alberta A. H. J. Thiadens; Lonneke Haer-Wigman; Yvonne de Jong-Hesse; Wendy A. G. van Zelst-Stams; Rob W. J. Collin; Caroline C. W. Klaver; L. Ingeborgh van den Born
TAGS: genotype, macular dystrophy, phenotype, retinal diseases, vision
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2049-2063. doi: https://doi.org/10.1167/iovs.18-25531

Includes: Supplemental Content

Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. doi: https://doi.org/10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Delivery and deployment of a ciliary actin dynamics module by PCARE drives the neogenesis of phototransductive membrane disks

Rob W J Collin; Julio Cesar Corral Serrano; Jeroen van Reeuwijk; Anita DM Hoogendoorn; Renate AA Ruigrok; Adem Yildirim; Stef JF Letteboer; Lonneke Duijkers; Sanae Sakami; Krzysztof Palczewski; Karsten Boldt; Uwe Wolfrum; Marius Ueffing; Alex Garanto; Ronald Roepman

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4979. doi:

ARVO Annual Meeting Abstract July 2018

ABCA4 midigenes reveal the full splice spectrum of all reported and newly identified non-canonical splice site variants in Stargardt disease

Mubeen Khan; Riccardo Sangermano; Stéphanie Cornelis; Valerie Richelle; Duaa Elmelik; Silvia Albert; Alex Garanto; Raheel Qamar; Dorien Lugtenberg; Ingeborgh Born; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4503. doi:

ARVO Annual Meeting Abstract July 2018

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Alex Garanto; Riccardo Sangermano; Silvia Albert; Mubeen Khan; Miriam Bauwens; Sarah Naessens; Rando Allikmets; Ingeborgh Born; Carel C B Hoyng; Elfride De Baere; Frans P Cremers; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4532. doi:

ARVO Annual Meeting Abstract June 2017

CRISPR/Cas9-mediated generation and characterization of a C2orf71a -/- zebrafish model

Julio Cesar Corral Serrano; Muriël Messchaert; Margo Dona; Theo Peters; Erwin van Wijk; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):292. doi:

ARVO Annual Meeting Abstract June 2017

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Silvia Albert; Riccardo Sangermano; Alejandro Garanto; Miriam Bauwens; Ana Fakin; Ingeborgh Van Den Born; Andrew R Webster; Elfride De Baere; Heidi Stoehr; Bernhard HF Weber; Carel C B Hoyng; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5580. doi:

ARVO Annual Meeting Abstract June 2017

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

Riccardo Sangermano; Mubeen Khan; Valerie Richelle; Stephanie Cornelis; Alejandro Garanto; Rob W J Collin; Silvia Albert; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5581. doi:

ARVO Annual Meeting Abstract June 2017

Functional characterization of EYS using zebrafish as a model organism

Muriël Messchaert; Ralph Slijkerman; Erwin van Wijk; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):606. doi:

ARVO Annual Meeting Abstract June 2017

Deciphering the molecular network surrounding ZNF408 in the regulation of retinal angiogenesis

Dyah W Karjosukarso; Sebastianus HC van Gestel; Jieqiong Qu; Evelyn N Kouwenhoven; Lonneke Duijkers; Huiqing Zhou; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2051. doi:

Genetics November 2016

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

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Galuh D. N. Astuti; Gavin Arno; Sarah Hull; Laurence Pierrache; Hanka Venselaar; Keren Carss; F. Lucy Raymond; Rob W. J. Collin; Sultana M. H. Faradz; L. Ingeborgh van den Born; Andrew R. Webster; Frans P. M. Cremers
TAGS: autosomal recessive inheritance, mutation, retinitis pigmentosa, tubulin, family, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. doi: https://doi.org/10.1167/iovs.16-20148

Genetics November 2015

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

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Kristof Van Schil; B. Jeroen Klevering; Bart P. Leroy; Jan Willem R. Pott; Dikla Bandah-Rozenfeld; Marijke N. Zonneveld-Vrieling; Dror Sharon; Anneke I. den Hollander; Frans P. M. Cremers; Elfride De Baere; Rob W. J. Collin; L. Ingeborgh van den Born
TAGS: alleles, autosomal recessive inheritance, mutation, mutation, nonsense, recurrence, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2015; 56(12):7418-7426. doi: https://doi.org/10.1167/iovs.15-17920

Includes: Supplemental Content

Genetics June 2014

IMPG2 -Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

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Ramon A. C. van Huet; Rob W. J. Collin; Anna M. Siemiatkowska; Caroline C. W. Klaver; Carel B. Hoyng; Francesca Simonelli; Muhammad I. Khan; Raheel Qamar; Eyal Banin; Frans P. M. Cremers; Thomas Theelen; Anneke I. den Hollander; L. Ingeborgh van den Born; B. Jeroen Klevering
TAGS: atrophy, mutation, retinitis pigmentosa, eye, visual acuity, phenotype, retina, bone spicule in retina, proteins, vision
Invest. Ophthalmol. Vis. Sci.. 2014; 55(6):3939-3953. doi: https://doi.org/10.1167/iovs.14-14129

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Mutations in IFT172 cause isolated and syndromic retinal degeneration

Kinga Maria Bujakowska; Qi Zhang; Qin Liu; Anna M Siemiatkowska; Xiaowu Gai; L Ingeborgh van den Born; Rob W J Collin; Christina Zeitz; Isabelle Audo; Eric Pierce

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1278. doi:

ARVO Annual Meeting Abstract April 2014

AAV-mediated antisense oligonucleotide-based therapy for CEP290 -associated LCA

Alejandro Garanto; Lonneke Duijkers; Ru Xiao; Luk H Vandenberghe; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3312. doi:

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Modeling ZNF408 -Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature

The shorter the better?: Assessing novel therapeutic strategies for CRB1 -associated retinal disease

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Extending the Spectrum of EYS -Associated Retinal Disease to Macular Dystrophy

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Delivery and deployment of a ciliary actin dynamics module by PCARE drives the neogenesis of phototransductive membrane disks

ABCA4 midigenes reveal the full splice spectrum of all reported and newly identified non-canonical splice site variants in Stargardt disease

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

CRISPR/Cas9-mediated generation and characterization of a C2orf71a -/- zebrafish model

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

Functional characterization of EYS using zebrafish as a model organism

Deciphering the molecular network surrounding ZNF408 in the regulation of retinal angiogenesis

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

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

IMPG2 -Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

Mutations in IFT172 cause isolated and syndromic retinal degeneration

AAV-mediated antisense oligonucleotide-based therapy for CEP290 -associated LCA

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