Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Sarah Naessens

ORCID iD: 0000-0001-9080-3103

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- PhD Thesis
- open access
Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases

Sarah Naessens

(2019)
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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, Rob W Collin, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Lonneke Duijkers, Irina Balikova (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Alex Garanto

(2019) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9).
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- Journal Article
- A1
- open access
Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa

Sarah Naessens, Laurien Ruysschaert, Steve Lefever (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) GENES. 10.
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- Journal Article
- A1
- open access
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens, Julie De Zaeytijd (UGent) , Delfien Syx (UGent) , Roosmarijn Vandenbroucke (UGent) , Frédéric Smeets, Caroline Van Cauwenbergh (UGent) , Bart Leroy (UGent) , Frank Peelman (UGent) and Frauke Coppieters (UGent)

(2019) HUMAN MUTATION. 40(5). p.539-551
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- Journal Article
- A1
- open access
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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- 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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- Conference Paper
- C3
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens, Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43
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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

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
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- Conference Paper
- C3
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah Naessens, Delfien Syx (UGent) , Frank Peelman (UGent) , Roosmarijn Vandenbroucke (UGent) , Sarah De Jaegere (UGent) , Frédéric Smeets, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(9).

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