Ghent University Academic Bibliography

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Your filters: cql: author="Garanto, Alejandro" or (type any "bookEditor issueEditor" and editor="Garanto, Alejandro")

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- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
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- Journal Article
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1751-1760
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- Conference Paper
- C3
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah Naessens, Alejandro Garanto, Miriam Bauwens (UGent) , Riccardo Sangermano, Irina Balikova (UGent) , Bart Leroy (UGent) , Frans Cremers, Elfride De Baere (UGent) and Rob Collin

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
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- Conference Paper
- C3
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens, Alejandro Garanto, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Silvia Albert, Rob Collin and Elfride De Baere (UGent)

(2018) Belgian Society for Stem Cell Research, 5th Annual meeting, Abstracts.
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- Conference Paper
- C3
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah Naessens, Alejandro Garanto, Miriam Bauwens (UGent) , Riccardo Sangermano, Irina Balikova (UGent) , Bart Leroy (UGent) , Frans Cremers, Elfride De Baere (UGent) and Rob Collin

(2017) European Human Genetics conference, Abstracts.
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- Conference Paper
- C3
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Sarah Naessens, Alejandro Garanto, Miriam Bauwens (UGent) , Riccardo Sangermano, Irina Balikova (UGent) , Bart Leroy (UGent) , Frans Cremers, Elfride De Baere (UGent) and Rob Collin

(2017) Young Researcher Vision Camp, Abstracts.
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Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Riccardo Sangermano, Nathalie M Bax, Miriam Bauwens (UGent) , L Ingeborgh Van den Born, Elfride De Baere (UGent) , Alejandro Garanto, Rob WJ Collin, Angelique SA Goercharn-Ramlal, Anke HA den Engelsman-van Dijk, Klaus Rohrschneider, et al.

(2016) OPHTHALMOLOGY. 123(6). p.1375-1385

Academic Bibliography

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease

Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

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