Garanto A - Search Results

1

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

Garanto A, Ferreira CR, Boon CJF, van Karnebeek CDM, Blau N. Garanto A, et al. Mol Genet Metab. 2022 Apr;135(4):311-319. doi: 10.1016/j.ymgme.2022.02.002. Epub 2022 Feb 15. Mol Genet Metab. 2022. PMID: 35227579 Free PMC article. Review.

2

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

Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: garanto a. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.

3

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9.

Schuurmans IME, Wu KM, van Karnebeek CDM, Nadif Kasri N, Garanto A. Schuurmans IME, et al. Among authors: garanto a. Stem Cell Res. 2023 Jun;69:103069. doi: 10.1016/j.scr.2023.103069. Epub 2023 Mar 15. Stem Cell Res. 2023. PMID: 36947993 Free article.

4

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A. Schuurmans IME, et al. Among authors: garanto a. J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16. J Inherit Metab Dis. 2023. PMID: 37020324

5

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Schuurmans IME, Wu KM, van Karnebeek CDM, Nadif Kasri N, Garanto A. Schuurmans IME, et al. Among authors: garanto a. Stem Cell Res. 2023 Sep;71:103173. doi: 10.1016/j.scr.2023.103173. Epub 2023 Jul 28. Stem Cell Res. 2023. PMID: 37540965 Free article.

6

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.

Garanto A, Chung DC, Duijkers L, Corral-Serrano JC, Messchaert M, Xiao R, Bennett J, Vandenberghe LH, Collin RW. Garanto A, et al. Hum Mol Genet. 2016 Jun 15;25(12):2552-2563. doi: 10.1093/hmg/ddw118. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106101 Free PMC article.

7

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.

Garanto A, Collin RWJ. Garanto A, et al. Methods Mol Biol. 2018;1715:61-78. doi: 10.1007/978-1-4939-7522-8_5. Methods Mol Biol. 2018. PMID: 29188506

8

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. Karjosukarso DW, et al. Among authors: garanto a. Hum Mol Genet. 2018 Oct 15;27(20):3519-3527. doi: 10.1093/hmg/ddy244. Hum Mol Genet. 2018. PMID: 29982478

9

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.

Vázquez-Domínguez I, Garanto A, Collin RWJ. Vázquez-Domínguez I, et al. Among authors: garanto a. Genes (Basel). 2019 Aug 28;10(9):654. doi: 10.3390/genes10090654. Genes (Basel). 2019. PMID: 31466352 Free PMC article. Review.

10

Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases".

Collin RWJ, Garanto A. Collin RWJ, et al. Among authors: garanto a. Genes (Basel). 2020 Feb 5;11(2):169. doi: 10.3390/genes11020169. Genes (Basel). 2020. PMID: 32033431 Free PMC article.

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