2022

How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Wortmann SB, Oud MM, ..., Garanto A, Hoischen A, ..., Vissers LELM, van Karnebeek CDM

Generation of an iPSC line (SCTCio14-A) and isogenic control line (SCTCio14-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

de Jong S, ..., Vázquez-Domínguez I, ..., I de Hollander A, Garanto A

Nature Medicine, 2022: Apr 4. doi: 10.1038/s41591-022-01755-w.

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Generation of an iPSC line (SCTCio15-A) and isogenic control line (SCTCio15-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.

de Jong S, ..., Vázquez-Domínguez I, ..., I de Hollander A, Garanto A

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Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Vázquez-Domínguez I, Li CHZ, ..., Garanto A, ..., Roosing S

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.

Russell SR, Drack AV, Cideciyan AV, ..., Collin RWJ, Hoyng C, ..., Rodman D, Girach A

Nature Medicine, 2022: Apr 4. doi: 10.1038/s41591-022-01755-w.

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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

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Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.

Garanto A, Ferreira CRBoon CJFvan Karnebeek CDMBlau N

Molecular Genetics and Metabolism, 60: S1096-7192(22)00134-2

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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

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Methods in Molecular Biology; Antisense RNA Design, Delivery, and Analysis: Methods and Protocols, 2434: 321-332

Delivery of Antisense Oligonucleotides to the Mouse Retina.

Garanto A

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Methods in Molecular Biology; Antisense RNA Design, Delivery, and Analysis: Methods and Protocols, 2434: 267-279

Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.

Vázquez-Domínguez I, Garanto A

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Methods in Molecular Biology; Antisense RNA Design, Delivery, and Analysis: Methods and Protocols, 2434: 145-165

Development and Use of Cellular Systems to Assess and Correct Splicing Defects.

Suárez-Herrera N, Tomkiewicz TZ, Garanto A, Collin RWJ

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Methods in Molecular Biology; Antisense RNA Design, Delivery, and Analysis: Methods and Protocols, 2434: 33-49

Antisense RNA Therapeutics: A Brief Overview.

Arechavala-Gomeza V, Garanto A

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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

Active site variants in STT3A cause a dominant type 1 congenital disorder of glycosylation

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

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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

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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

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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

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Prog Retin Eye Res, 6;100987

Approaches for corneal endothelium regenerative medicine.

Catala P, ..., Collin RWJ, ..., Dickman MM

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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

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Delivery of oligonucleotide - based therapeutics: challenges and opportunities.

Hammond SM, ..., Collin RWJ, ..., Garanto A, ..., Arechavala-Gomeza V

EMBO Molecular Medicine, 13, e13243

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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

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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

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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

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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

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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

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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

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Retinal Degenerative Diseases 2019 Dec.p

RNA-based therapeutic strategies for inherited retinal dystrophies.

Garanto A

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

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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

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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

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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

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

Clinical Characterization of 66 Patients

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

Detection and quantification of a KIF11

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

Eyes shut homolog is important for the m

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

An FEVR associated muttaion in ZNF408 al

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

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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

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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

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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

ABCA4 midigenes reveal the full splice s

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