2021

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

2020

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.

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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

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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

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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

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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

2019

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

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

Oncotarget, 11: 573

RNA-based therapeutic strategies for inherited retinal dystrophies

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Garanto A

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

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

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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

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Garanto A, Duijkers L, Tomkiewicz TZ, Collin RWJ

Genes, 10: E452

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

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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

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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

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

Genetics in Medicine, 21: 1750-1761

2018

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

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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

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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

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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