Implications of genetic variation in the complement system in age-related macular degeneration.

de Jong Sarah, ………, Garanto A,……… den Hollander A

Progress in Retinal and Eye Research, 2021, 100952


The deubiquitinating enzyme ataxin-3 regulates ciliogenesis and phagocytosis in the retina. 

Toulis V, ………, Garanto A, Costa MdC, Marfany G

Cell Reports, 33: 108360

Detailed phenotyping and therapeutic strategies for intronic ABCA4 variants in Stargardt disease.

Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax, NM, Duijkers L, ………, Garanto ACollin RWJ

Molecular Therapy Nucleic Acids, 21: 412-427

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Corral-Serrano JC, Lamers IJC, van Reeuwijk J, Duijkers L, Hoogendoorn ADM, ………, Garanto A, Roepman R, Collin RWJ

Proc Natl Acad Sci U S A, 18: 9922-9931

In or out? New insights on exon recognition through splice-site interdependency

Khan M, Cornelis SS, Sangermano R, Post IJM, Janssen Groesbeek A, Amsu J, Glissen C, Garanto A, Collin RWJ, Cremers FPM

International Journal of Molecular Science, 21: E2300

Modeling ZNF408-associated FEVR in zebrafish results in abnormal retinal vasculature

Karjosukarso DW, Ali Z, Peters TA, Zhang JQCHoogendoorn ADMGaranto A, van Wijk E, Jensen LD, Collin RWJ

Investigative Ophthalmology & Visual Science, 61: 39


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

Timmermans-Spring E, Collin RWJ, Henkes A, Philipsen M, Mol JA

Oncotarget, 11: 573

RNA-based therapeutic strategies for inherited retinal dystrophies

Garanto A

Advances in Experimental Medicine and Biology, 1185: 71-77

Molecular therapies for inherited retinal diseases - current standing, opportunities and challenges

Vázquez-Domínguez I, Garanto A, Collin RWJ 

Genes, 10: E654

Antisense oligonucleotide screening to optimize the rescue of the splicing Defect caused by the recurrent deep-intronic ABCA4 variant c.4539+2001G>A in Stargardt disease

Garanto A, Duijkers L, Tomkiewicz TZ, Collin RWJ

Genes, 10: E452

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

Pierrache LHMMesschaert MThiadens AAHJHaer-Wigman Lde Jong-Hesse Yvan Zelst-Stams WAGCollin RWJKlaver CCWvan den Born LI

Investigative Ophthalmology & Visual Science, 60: 2049-2063

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

Bauwens MGaranto ASangermano R,..., Collin RWJCremers FPMLeroy BPDe Baere E

Deep-intronic ABCA4 variants explain mis

Genetics in Medicine, 21: 1761–1771

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Sangermano R, Garanto A, Khan M, ....., Albert S, Collin RWJ, Cremers FPM

Genetics in Medicine, 21: 1750-1761

Deep-intronic ABCA4 variants explain mis


Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Valkenburg D, van Cauwenbergh C, Lorenz B,....., Leroy BP, van den Born LI, Collin RWJ

Investigative Ophthalmology & Visual Science, 59: 4384-4391

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

Karjosukarso DW, Cremers FPM, van Nouhuys CE, Collin RWJ

European Journal of Human Genetics, 26: 1819–1823

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

Messchaert M, Dona M, Broekman S, Peters TA, Corral-Serrano JC, Slijkerman RWN, van Wijk E, Collin RWJ

PLoS One, 13: e0200789

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

Karjosukarso DW, van Gestel SHC, Qu J, Kouwenhoven EN, Duijkers L, Garanto A, Zhou H, Collin RWJ

Human Molecular Genetics, 27: 3519–3527

Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia

Garanto A, van der Velde-Visser SD, Cremers FPM, Collin RWJ

Advances in Experimental Medicine and Biology, 1074: 83-89

Antisense oligonucleotide-based splicing correction in individuals with Leber Congenital Amaurosis due to compound heterozygosity for the c.2991+1655A>G mutation in CEP290

Duijkers Lvan den Born LINeidhardt JBax NMPierrache LHMKlevering BJCollin RWJ, Garanto A

International Journal of Molecular Science, 19: E753

Design and in vitro use of antisense oligonucleotides to correct pre-mRNA splicing defects in inherited retinal dystrophies

Garanto A, Collin RWJ

Methods in Molecular Biology; Retinal Gene Therapy: Methods and Protocols, 1715: 61-78

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Sangermano RKhan MCornelis SS,....., Garanto A,....., van den Born LICollin RWJCremers FPM

Genome Research, 28: 100-110

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

Messchaert MHaer-Wigman LKhan MICremers FPMCollin RWJ

Human Mutation, 39: 177-186

EYS mutation update In silico assessment

Radboud university medical center

Department of Human Genetics

Route 855

Geert Grooteplein-Zuid 30

6525 GA Nijmegen

The Netherlands