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2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, ... , JErwin van Wijk, Susanne Roosing
HGG Advances. 2023 April;4(2)
Consensus guidelines for the design and in vitro preclinical efficacy testing N-of-1 exon skipping antisense oligonucleotides.
Annemeieke Aartsma-Rus, Alejandro Garanto, ... , Jonathan K Watts, Timothy W Yu
Nucleic Acid Therapeutics. 2023 Feb;33(1)
PDE6D mediates trafficking of prenylated protein NIM1K and UBL3 to primary cilia.
Siebren Faber, Stef JF Letteboer, ... , Rob WJ Collin, ... , Karsten Boldt, Ronald Roepman
Cells. 2023 Jan;12(2):31.
Correction of the splicing defect caused by a recurrent variant in ABCA4 (c.769-784C>T) that underlies Stargardt disease.
Tomasz Z Tomkiewicz, Sara E. Nieuwenhuis, Frans P.M. Cremers, Alejandro Garanto, Rob WJ Collin
The predicted splicing variant c.11+5G>A in RPE65 leads to a reduction in mRNA expression in a cell-specific manner.
Irene Vázquez-Domínguez, Lonneke Duijkers, ... , Edwin M. van Oosten, ... Anita D.M. Hoogendoorn, ... , Rob WJ Collin, Susanne Roosing, Alejandro Garanto
Cells. 2022 Dec;11(24):3947.
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
Tess A Afanasyeva, Yan-Ting Schnellbach, Toby J Gibson, Ronal Roepman, Rob WJ Collin
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.
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
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.
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.
Garanto A, Ferreira CR, Boon CJF, van Karnebeek CDM, Blau N
Molecular Genetics and Metabolism, 60: S1096-7192(22)00134-2
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
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
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
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
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
2021
2020
2019
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
2018
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
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
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