Ghent University Academic Bibliography

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Your filters: cql: author exact 870111211169 cql: author exact 0000-0001-9080-3103

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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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- 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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- 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
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
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van Schil (UGent) , Sarah Naessens, Stijn Van de Sompele (UGent) , Nuria Gruartmoner Roura, Marjolein Carron (UGent) , Katharina Dannhausen, Sarah De Jaegere (UGent) , Maxim Vanpanteghem, Frauke Coppieters (UGent) , Marcus Karlstetter, et al.

(2018) Belgian Society for Human Genetics, 18th 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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- Conference Paper
- C3
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van Schil (UGent) , Sarah Naessens, Stijn Van de Sompele (UGent) , Nuria Gruartmoner Roura, Marjolein Carron (UGent) , Katharina Dannhausen, Sarah De Jaegere (UGent) , Maxim Vanpanteghem, Frauke Coppieters (UGent) , Marcus Karlstetter, et al.

(2017) American Society of Human Genetics, Annual meeting, Abstracts.

Academic Bibliography

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

Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

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

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

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

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

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

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