2022
Human Molecular Genetics, 00: 1-11 (ddac057)
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
Afanasyeva TAV, Schnellbach YT, Gibson TJ, Roepman R, Collin RWJ
Stem Cell Research, 60: 102689
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Vázquez-Domínguez I, Kwint, M, ...,Cremers FPM, Collin RWJ, Roosing S, Garanto A
Delivery of Antisense Oligonucleotides to the Mouse Retina.
Garanto A
Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.
Vázquez-Domínguez I, Garanto A
Development and Use of Cellular Systems to Assess and Correct Splicing Defects.
Suárez-Herrera N, Tomkiewicz TZ, Garanto A, Collin RWJ
2021
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
Prog Retin Eye Res, 6;100987
Approaches for corneal endothelium regenerative medicine.
Catala P, ..., Collin RWJ, ..., Dickman MM
International Journal of Molecular Science, 22(9), 4621
Antisense Oligonucleotides-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.
Tomkiewicz TZ, Suárez-Herrera N, Cremers FPM, Collin RWJ, Garanto A
Delivery of oligonucleotide - based therapeutics: challenges and opportunities.
Hammond SM, ..., Collin RWJ, ..., Garanto A, ..., Arechavala-Gomeza V
EMBO Molecular Medicine, 13, e13243
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.
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
2019
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
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
2018
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
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
Genome Research, 28: 100-110
Human Mutation, 39: 177-186