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2024
Study of Late-Onset Stargardt Type 1 disease: Characteristics, Genetics and Progression
Catherina HZ Li, Jeroen AAH Pas, Zelia Corradi, Rebekkah J Hitti-Malin, Anne Hoogstede, Esmee H Runhart, Patty PA Dhooge, Rob WJ Collin, Frans PM Cremers, Carel B Hoyng
Ophthalmology, 131: 87-97
2023
Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9
Imke M E Schuurmans, Ka M Wu, Clara D M van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Stem Cell Res, 71: 103173
Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9
Imke M E Schuurmans, Ka M Wu, Clara D M van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Stem Cell Res, 71: 103173
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
Melita Kaltak, Zelia Corradi, Rob W J Collin, Jim Swildens, Frans P M Cremers
Hum Mol Genet. 2023 Oct 17;32(21):3078-3089
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution
Joeri van Strien, Felix Evers, Madhurya Lutikurti, Stijn L Berendsen, Alejandro Garanto, Geert-Jan van Gemert, Alfredo Cabrera-Orefice, Richard J Rodenburg, Ulrich Brandt, Taco W A Kooij, Martijn A Huynen
PLoS Comput Biol. 2023 Aug 7;19(8):e1011090
Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics
Haiyan Zhou, Virginia Arechavala-Gomeza, Alejandro Garanto
Nucleic Acid Ther. 2023 Aug;33(4):238-247
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease
Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Rob W J Collin
Stem Cell Res. 2023 Sep:71:103169
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants
Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Carel B Hoyng, Rob W J Collin
Stem Cell Res. 2023 Sep:71:103164
Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
Imke M E Schuurmans, Ka M Wu, Clara D M van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Stem Cell Res. 2023 Jun:69:103069
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a
Jessie M Hendricks, Juriaan R Metz, Hedwig M Velde, Jack Weeda, Franca Hartgers, Suzanne Yzer, Carel B Hoyng, Ronald J E Pennings, Rob W J Collin, Myrthe H M Boss, Erik de Vrieze, Erwin van Wijk
Opthalmol Sci. 2023 May 5;3(4):100323
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
Tess A V Afanasyeva, Dimitra Athanasiou, Pedro R L Perdigao, Kae R Whiting, Lonneke Duijkers, Galuh D N Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E Cheetham, Rob W J Collin
Mol Ther Methods Clin Dev. 2023 May 17:29:522-531
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G P van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P Mahalleh-Yousefi, Merel A Post, Karin Huijben, Daan M Panneman, Richard J T Rodenburg, Nicol C Voermans, Alejandro Garanto, Werner J H Koopman, Hans J C T Wessels, Marek J Noga, Dirk J Lefeber
Int J Mol Sci. 2023 May 4;24(9):8247
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W J Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
JCI Insight. 2023 May 22;8(10):e169162
Exploring genotype-phenotype correlations in glutaric aciduria type 1
Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D M van Karnebeek, Stefan Kölker, Alejandro Garanto
J Inherit Metab Dis. 2023 May;46(3):371-390
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R Webster, Rob W J Collin, Michael E Cheetham, Gerard Platenburg, Jim Swildens
Mol Ther Nucleic Acids. 2023 Feb 18:31:674-688
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R Webster, Rob W J Collin, Michael E Cheetham, Gerard Platenburg, Jim Swildens
Mol Ther Nucleic Acids. 2023 Feb 18:31:674-688
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, ... , Erwin 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.
2022
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.
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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