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1 . Academic Journal
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
저자
by
Suárez-Herrera, Nuria
;
Riswick, Iris B.
;
Vázquez-Domínguez, Irene
;
Duijkers, Lonneke
;
Karjosukarso, Dyah W.
, et al.
소스
In
Molecular Therapy
6 March 2024 32(3):837-851
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7 . Academic Journal
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
저자
by
Cavazza, Alessia
;
Hendel, Ayal
;
Bak, Rasmus O.
;
Rio, Paula
;
Güell, Marc
, et al.
소스
In
Molecular Therapy - Nucleic Acids
12 December 2023 34
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7 . Academic Journal
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
저자
by
Afanasyeva, Tess A.V.
;
Athanasiou, Dimitra
;
Perdigao, Pedro R.L.
;
Whiting, Kae R.
;
Duijkers, Lonneke
, et al.
소스
In
Molecular Therapy - Methods & Clinical Development
8 June 2023 29:522-531
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7 . Academic Journal
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
저자
by
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
;
Dockery, Adrian
;
van den Born, L. Ingeborgh
, et al.
소스
In
Human Genetics and Genomics Advances
January 2023
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7 . Academic Journal
Implications of genetic variation in the complement system in age-related macular degeneration
저자
by
de Jong, Sarah
;
Gagliardi, Giuliana
;
Garanto, Alejandro
;
de Breuk, Anita
;
Lechanteur, Yara T.E.
, et al.
소스
In
Progress in Retinal and Eye Research
September 2021 84
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7 . Academic Journal
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
저자
by
Suárez-Herrera, Nuria
;
Li, Catherina H. Z.
;
Leijsten, Nico
;
Karjosukarso, Dyah W.
;
Corradi, Zelia
, et al.
소스
Cells (2073-4409)
. Apr2024, Vol. 13 Issue 7, p601. 21p.
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7 . Academic Journal
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.
저자
by
Suárez-Herrera, Nuria
;
Garanto, Alejandro
;
Collin, Rob W.J.
.
소스
Nucleic Acid Therapeutics
. Apr2024, Vol. 34 Issue 2, p73-82. 10p.
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5 . Academic Journal
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution.
저자
by
van Strien, Joeri
;
Evers, Felix
;
Lutikurti, Madhurya
;
Berendsen, Stijn L.
;
Garanto, Alejandro
, et al.
소스
PLoS Computational Biology
. 8/7/2023, Vol. 19 Issue 8, p1-26. 26p. 4 Diagrams, 4 Charts, 4 Graphs.
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7 . Academic Journal
Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics.
저자
by
Zhou, Haiyan
;
Arechavala-Gomeza, Virginia
;
Garanto, Alejandro
.
소스
Nucleic Acid Therapeutics
. Aug2023, Vol. 33 Issue 4, p238-247. 10p.
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5 .
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
저자
by
Suárez-Herrera, Nuria
;
Leijsten, Nico
;
Albert, Silvia
;
Bax, Nathalie M.
;
Hoyng, Carel B.
, et al.
소스
In
Stem Cell Research
December 2023 73
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