Research Explorer

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Sarah Naessens

Prijzen & Erkenningen

24 Resultaten

2019

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

Miriam BauwensAlejandro GarantoRiccardo SangermanoSarah NaessensNicole WeisschuhJulie De ZaeytijdMubeen KhanFrançoise SadlerIrina BalikovaCaroline Van Cauwenbergh et al.

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

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

Sarah NaessensRob W CollinFrauke CoppietersMiriam BauwensLonneke DuijkersIrina BalikovaBart LeroyElfride De BaereAlex Garanto

Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa

Sarah NaessensLaurien RuysschaertSteve LefeverFrauke CoppietersElfride De Baere

A1 Artikel in een tijdschrift in GENES

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

Miriam BauwensSarah NaessensCaroline Van CauwenberghThalia Van LaethemSarah De JaegereIrina BalikovaYves SznajerJulie De ZaeytijdBart LeroyElfride De Baere

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

Riccardo SangermanoAlejandro GarantoMubeen KhanEsmee H RunhartMiriam BauwensNathalie M BaxL Ingeborgh van den BornMuhammad Imran KhanStéphanie S CornelisJoke BGM Verheij et al.

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases

Sarah NaessensElfride De BaereFrauke Coppieters

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah NaessensJulie De ZaeytijdDelfien SyxRoosmarijn VandenbrouckeFrédéric SmeetsCaroline Van CauwenberghBart LeroyFrank PeelmanFrauke Coppieters

A1 Artikel in een tijdschrift in HUMAN MUTATION

2018

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

Sarah NaessensAlejandro GarantoFrauke CoppietersMiriam BauwensIrina BalikovaBart LeroySilvia AlbertRob CollinElfride De Baere

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah NaessensDelfien SyxFrank PeelmanRoosmarijn VandenbrouckeSarah De JaegereFrédéric SmeetsJulie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

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 SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

2017

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

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

Sarah NaessensAlejandro GarantoMiriam BauwensRiccardo SangermanoIrina BalikovaBart LeroyFrans CremersElfride De BaereRob Collin

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 SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnne Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

2016

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters