Onderzoeker

Miriam Bauwens

Disciplines:Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen

Publicaties

1 - 10 of 34 results

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease(2020)
Auteurs: Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan M. Jones, Rui Chen, Elfride De Baere, et al.
Pagina's: 9001 - 9012
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Auteurs: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Rita De Rycke, Brecht Guillemyn, Sarah De Jaegere, Frauke Coppieters, Rudy Van Coster, Bart Leroy, et al.
Pagina's: 426 - 436
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides(2019)
Auteurs: Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens, Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.
Pagina's: 1751 - 1760
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2019)
Volume: 27
Auteurs: Miriam Bauwens, Sarah Naessens, Caroline Van Cauwenbergh, Thalia Van Laethem, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd, Bart Leroy, Elfride De Baere
Pagina's: 42 - 43
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells(2019)
Volume: 60
Auteurs: Sarah Naessens, Rob W Collin, Frauke Coppieters, Miriam Bauwens, Lonneke Duijkers, Irina Balikova, Bart Leroy, Elfride De Baere, Alex Garanto
Aantal pagina's: 1
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Auteurs: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, et al.
Pagina's: 1761 - 1771
Missing heritability in inherited blindness : ABCA4-associated disease as a model(2018)
Auteurs: Miriam Bauwens
Pagina's: 332 p.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations(2018)
Auteurs: Kristof Van Schil, Sarah Naessens, Stijn Van De Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, et al.
Pagina's: 202 - 213
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease(2018)
Auteurs: Sarah Naessens, Alejandro Garanto, Miriam Bauwens, Riccardo Sangermano, Irina Balikova, Bart Leroy, Frans Cremers, Elfride De Baere, Rob Collin
Aantal pagina's: 1
Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus(2017)
Volume: 58
Auteurs: Miriam Bauwens, Riccardo Sangermano, Timothy Cherry, Caroline Van Cauwenbergh, Jose Luis Gomez-Skarmeta, Nicole Weisschuh, Susanne Kohl, Bart Leroy, Frans Cremers, Elfride De Baere
Aantal pagina's: 1

Onderzoeker

Miriam Bauwens

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