American Journal of Human Genetics, 108: 1-15

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromuscularskeletal findings.​

Wilson MP, Garanto A, ..., Morava E, Lefeber DJ

Human Molecular Genetics, 2021

Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.​

de Jong S, de Breuk A, ..., Garanto A, ..., van den Heuvel LP, den Hollander AI

International Journal of Molecular Sciences, 22, 9154

Zebrafish as a Model to Evaluate a CRISPR/Cas-9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa.​

Schellens R, de Vrieze E, ..., Collin RWJ, van Wijk E

Cellular and Molecular Life Sciences, 2021

A look into retinal organoids: methods, analytical techniques, and applications.​

Afanasyeva TAV, Corral-Serrano JC, Garanto A, Roepman R, Cheetham ME, Collin RWJ

Human Mutation, 2021; 1-27

RPPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.​

Peeters MHCA, ..., Hoyng CB, Cremers FPM, ..., Collin RWJ

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 A, Collin 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 JQC,  Hoogendoorn ADM, Garanto 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 LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van 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 M, Garanto A, Sangermano R,..., Collin RWJ, Cremers FPM, Leroy BP, De Baere E

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

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 L, van den Born LI, Neidhardt J, Bax NM, Pierrache LHM, Klevering BJ, Collin 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

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

Sangermano R, Khan M, Cornelis SS, ..., Garanto A, ..., van den Born LI, Collin RWJ, Cremers 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 M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ

Human Mutation, 39: 177-186